Tag Archives: infantile spasms

Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

Love For Lani

May 27, 2013 Rebecca Gaunt Leave a comment

Day 20 of Guest Blogging for TSC Awareness

By guest blogger Kimberly Clisbee (Los Angeles, California)

When you are expecting a child everyone has advice to give. What diapers are the best, what to do for a fever, rash, or tummy aches. But no one prepares you to hear the words “your baby has brain cancer.” I would like to bring you on Lani’s journey and share with you her struggle and successes with this dreaded disease that we now know to be tuberous sclerosis.

I moved to California from NH in hopes for a better life. It was 2009 and we were in a deep recession. I was unemployed and could not find work to save my life, so I enrolled in college in the pursuit of a bachelor’s degree in criminal justice. I attended school for a year, but as my unemployment was coming to an end, I needed to find employment to pay the bills.

At the time I was teaching martial arts and had a great opportunity to open a school with a martial arts colleague of mine in LA. During a business meeting in September of 2009, I met Chris, and we fell for each other almost immediately. For the next three months he would fly out to visit me while I was closing out my affairs in NH. We would drive out to California on December 27, 2009. In February of 2010 I discovered I was three months pregnant. The plan was that I would give birth, then go back to school to finish my degree and get a job to support my family. When I arrived in California, Chris revealed that he was disabled and could not work due to seizures. He was scared to tell me because he thought I would leave him. But I am not that way. If you love someone, you love them no matter what.

When Leilani was in my tummy everything was fine. I had placenta previa when I was pregnant, so I had monthly ultrasounds which never displayed any developmental problems. I was always told everything looked great. I also had an amniocentesis which came out fine. So when I had Leilani on August 26 I was expecting to have a perfectly healthy baby girl. From the first moment I held her in my arms I knew something was not right. She seemed to jump and twitch every couple of minutes. I kept asking the doctors if there was a chance these were seizures since her dad had a history of seizures, but I was told they were infant twitches, common to newborns.

Well I have been around a lot of newborns in my life and I knew it had to be more than that. Trying to breast feed was also a big challenge for Lani. She would start off fine but then start jumping and end up stopping a couple of minutes in. The doctors again said everything was normal. Finally two days before we were to go home I called the nurse in my room because Lani’s breathing seemed labored. They brought in a respiratory specialist that said that Lani did not get all the fluid out of her lungs when she was born and needed to go to NICU until they were clear. I was relieved.

I thought that was it; she was just having problems breathing and the everything was going to be fine. That was on Saturday the 28th. The next morning at 6:00am I was woken up by the NICU doctor in charge. She had informed me that Leilani had a seizure at 3:00 am and was down having an MRI. Since Lani was delivered by caesarian they told me they were just waiting for a wheelchair and then they would bring me to her. I never hopped out of bed so fast in my life and started down the hall towards the elevators. Radiology was all the way on the other side of the building three floors down, and I think I made it there in light speed.

I don’t even remember being in pain, it just went away right at that moment. All I felt was fear. They were only a level 3 hospital, so they did not have the ability to perform contrast MRIs. All you could see was a 7 centimeter shadow taking up ¾ of Lani’s right hemisphere. She was immediately sent to CHLA. She would get the care she needed there. Unfortunately I was stuck in the hospital until the next day, so I sent Chris and my mother with Lani. That was the longest night of my life! I was alone, I was scared and I was asking every five minutes if I could leave. Finally, the next day around 2 pm, I was released.

We went straight to the NICU. She was hooked up to so many machines and had so many people around her. I literally felt drunk. So many people were coming in and out, introducing themselves, telling me not to worry, as if that were possible. Finally one of the doctors came in and told me they were able to perform a contrast MRI on Lani and what they were seeing was a solid mass. They needed to do a biopsy ASAP to determined what it was. So on September 9th at 7:00 am Leilani went in for her very first brain surgery. She was only 13 days old.

Knowing that your child is going to be in the hospital long term not only holds an emotional strain but a financial one as well. We live 60 miles from the hospital, and in LA traffic that could take up to 2 hours both ways depending what time you left. For the first week we had to commute back and forth and since I couldn’t drive. My poor mother who came out for two weeks had to cart me around. This was very hard for her. Not driving me around but the whole thing. She came out to see her granddaughter come into this world and to help me and instead she got to take part in this nightmare.

She was only able to stay for a couple of weeks and in that time she had to rotate seeing the baby with Chris, hold her granddaughter in a hospital room full of sick babies, and leave without knowing what Lani’s fate would be. Thank you Ma, and I am sorry you had to go through that! We met with a counselor, Glenda. She helped us arrange everything we needed for Lani- business, personal and otherwise. She organized Lani’s baptism which was held in the hospital before my mother left, and she hooked us up with one of the greatest organizations ever! The Ronald MacDonald House.

They made things so much easier for us!!! They are right across the street from the hospital. They have a fully stocked kitchen at your disposal, your own fridge space and cabinet space so you don’t have to eat out. They have a laundry room, gym, counselors, and most nights, volunteers come in and make dinner for you. The charge $25 a night but it is based on your income, so if you can’t afford to pay they waive the fees.

We met a lot of other wonderful people there that were going through their own struggles with their children. We bonded with a few of the families, but sadly, over our 43 day stay we witnessed half of them lose their battle. That was one of the hardest parts. These people were people we had coffee with in the morning and exchanged stories with, we would take the shuttle back and forth with them, our children were in the same rooms. Until one day they weren‘t. And you see the other parents in the hall crying, and they don’t really want to talk to you because your child is still fighting and theirs lost their fight. I pray for those families every day, and I thank GOD it was not us. People don’t realize the ¼ of the children in a NICU never make it out. We were one of the lucky ones.

I decided early on that I was going to act as if this was a normal for Lani’s sake, so I was there 12 hours a day. I brought clothes, toys and bedding from home. No hospital stuff was to be used. I would be there at every feeding, bath time and doctors rounds. If I was going to do this I had to stay strong, so there was no crying allowed around Lani.

One of the first thing a child learns is emotion and they feel that through their parents emotions so I tried very hard to keep it as normal as I could. Don’t get me wrong, I lost it plenty of times!! But I would leave so she wouldn’t feel it. She was not able to feed from me so I pumped every three hours. I read her bed time stories every night and held her all the time. Singing to her and telling her all about her room, her family who loved her, and what we were going to do when she got home.

I really think that mental mindset made a big difference for everyone. It helped me cope with what was going on and gain control over my situation, as well as seal the bond between Lani and I. Mom had to leave and it was time for Lani’s biopsy. I was never so scared in my life. The surgery took three hours which felt like an eternity. We had to wait a week for the results so in that time we just tried to stay positive. Leilani was having a seizure about every 10-45 min. Her oxygen levels were always good which is what you want; no oxygen is what causes brain damage. But she was having infantile spasms which are very dangerous and usually don’t show up until 6 months of age.

I had to convince them that was what was going on. The nurses kept telling me no, she could not be having infant spasms as a newborn and moved Lani to the back of the room. They took her from having two nurses to having one nurse who was not even paying attention to her. Well that was my first run-in with the nurses, and not the last I assure you! I called the head of the department of neurology. Lani being such a rare case it was easy for me to access anyone and everyone. Everyone wanted to be part of her story.

I told him what was going on and insisted they look into her seizures so there was no more doubt or guessing. So he did. He called down to her room, reprimanded the nurses, and had them move her to the front and reassign the other nurse. They were not happy with me but I didn’t care. I was not there to make friends, I was there to save my daughters life. Most of the nurses were great I must say, but there were a few that just didn’t work for me and I let them know it. You have to. If you see something that seems wrong it probably is, and if you do not open your mouth and address it you have no one to blame for the outcome.

They performed an EEG and it confirmed they were infantile spasms, which in itself was extremely rare. The hardest part for the staff, as well as us, was that they have never seen a case like Lani’s before and they had no idea what to do for her. Finally the pathology came back and we were called into the conference room. When we got there we saw ten people sitting around the table, some we knew and some we never seen before. We were told that Leilani had a rare form of brain cancer called “Congenital Gemistocytic Astrocytoma” and that there were only three other known cases in medical history. The other cases were successful but Lani’s case was a little more complicated. She had one big tumor and two small tumors on the right. But she also had one small tumor on the left.

They could only operate on one side and it had to be the right, so they told us it didn’t look good. They said if I never had the respiratory nurse check Lani’s breathing and she went home she would have died in a few weeks. Then they went on to say that her chances of surviving such a big surgery for such a small baby were slim, and if she did make it, the left side would eventually grow, and if that happened than there would be nothing they could do. They suggested the unthinkable. Just take her home and let whatever happens happen. I told them that was not an option! If she dies in surgery then that is what happens, but I was not going to sit by and do nothing! I don’t care if you have never done this surgery on a 3-week-old! But either you take her to UCLA or I will, but she is going to have this surgery! At first they told us they were going to take the whole right side, but they only took the frontal lobe and part of the center portion.

The surgery was a success! Her seizures were gone. Her pituitary gland went into shock as a result of the surgery, so she developed diabetes incipitus (water diabetes) and renal disorder. She had to go home having two shots a day of DDAVP (a really dangerous drug that controlled her sodium levels) along with phenobarbital and topamax to control her seizures and hydrocortisone to control her adrenalin. All this adult medication for this 7 pound baby, but if it was going to help, who am I to question. I am not a doctor. Boy has that attitude changed! I was just so happy to take her home! She didn’t sleep the first few days because of the dark and quiet. She was so used to all the lights and noise of the hospital. We were so hopeful that this would be it.

Lani was released from the hospital on October 14. We were so hopeful that this was going to be it. That she would come home and recover and never have to have another surgery again. The first week home was great, she progressed so much! She was smiling and playing, doing all the things a two-month-old baby should do. A week later, mother came to visit. Everything went well, my mother got to see Lani out of the hospital, and Lani got to spend time with her Grandma. It was the night before my mother was to fly back to Boston and I was getting Lani ready for bed. She was lying on my bed while I was puttering getting things ready, when I looked down at her and noticed she was kind of breathing funny and her eyes looked red and a little watery. She almost looked as if she was scared. We didn’t make much of it and went on with our night hoping it was nothing.

Two days later I noticed it happen again. It was really hard to tell because it lasted seconds and she didn’t have any typical seizure signs. But I knew. My heart dropped. We called her doctor the next day and told her what we were seeing. She said it didn’t sound like a seizure but she wanted her to have an EEG anyway. So we went in for an EEG and it was confirmed that she was having seizures again. Her doctor told me that her visual signs and EEG results were so slight, it was hard to tell what was going on. She asked me, “What, do you do stare at her all day?” And I said, “Why yes, I do.” She laughed and called me the “seizure dog mom.” She said that they had to look at the video over and over again to see what I was seeing. I replied, “Well, I am a mom and moms just know.”

The performed an MRI just to be sure that it was a tumor causing the problem and they found one on her temporal lobe. They scheduled to have a temporal lobe resectioning on November 30. In the mean time Lani was still receiving two shots a day for diabetes insipidus, which I insisted she no longer had. But I would fight that battle after Lani’s surgery. This surgery was a bit of a nightmare. Before surgery (as most of you know) you can not eat for 12 hours, so when it is a baby they try to get them in ASAP. Well, the scrubber in the operating room was not working and since Lani’s doctor did not want to use another room, we had to wait three hours. She was seizing every hour, and she was hungry and scared. It took them five times just to get an IV line. Complete nightmare! They finally took her in and then the waiting game began. This time it was nine hours! I was so scared. I kept having them call to make sure everything was ok. Finally the doctor came up and told us he got it all out and she was on her way to the PICU.

The first person we met the PICU was Lani’s nurse whose name I can’t remember. She was a good nurse for the most part- nice enough. But the thing that I remember the most was when I walked in and she was ordering insulin along with Lani’s other meds. When I explained to her that she didn’t have sugar diabetes, that she had diabetes insipidus and needed DDAVP she said to me, “What’s that?” Scary right!? But then that was followed by, “Thank you for telling me! It gets so busy in here that I don’t always get time to read the charts.” Well needless to say, I didn’t leave that night! Thankfully we were only in there for one night. We were transferred to the main floor the next day and released two days later. This was a relatively easy surgery for Lani and she was back to herself in a couple of days. They used the same incisions, so there was no new scaring and most importantly, no seizures for three weeks…

So after three brain surgeries we are right back where we started. But this time she is having infantile spasms again, along with her regular partial onsets. They were not sure if Lani could have more surgery being so young so they wanted to go the medication route. What does this mean for Leilani? More medication. The upside is that her seizures would eventually be under control. The downside is that you are filling your baby with poison that could give her all kinds of other problems.

These medications have serious side effects and as a mother I had to research each and every one so I would know what I was willing to try and what was too risky. I do recommend you for the most part listen to your doctors, they didn’t spend hundreds of thousands of dollars and 8+ years in school to not know what they are doing. But the reality is, hospitals like anything else, are businesses and everyone wants to get paid including the pharmaceutical companies. So don’t be afraid to say no if you are informed about what it is you are protesting.

I was finally able to convince them that Leilani’s pituitary gland was functioning on it’s own so her endocrinologist took her off of the DDAVP and Hydrocortisone J. So now she is only on four types of anticonvulsants at adult doses, and she is still having up to 18-22 seizures a day that last almost 5-10 minutes each. She has been going like this for three months, which is how long I told her doctors I would give all this medication to work. Add some subtract some, it made no difference. So I told them I want to do something else because I was not willing to let these medications ravage her internal organs, they were not helping.

They recommended two alternatives: Sabril, a drug that could damage her peripheral vision, and carried no guarantee to stop the seizures. Or a high powered steroid called Actar. We went with the steroid after doing much research. This medication cost $25,000 for a two week supply! Thank GOD I didn’t have to pay for it. But it had to be administered intramuscularly twice a day which was the hardest thing I ever had to do. My heart broke every time.. She immediately started having side effects. She was inconsolable all the time!!!! And this is a baby who is always happy. She was swollen, hungry all the time, and just flat out miserable.

Her seizures did not stop or slowed down, so after two weeks of this I wanted to stop. We went to her pediatrician for a check-up and her blood pressure was 170 over 95. We immediately took her to CHLA. Her neurologist did not want to admit her. She said the when her blood pressure got under control she could leave, but I knew there was more going wrong. I kept telling them she was having problems peeing and that she had a history of DI. This was not true of course but I knew it would force internal scan, given the fact that ACTAR can shut down your kidneys and liver.

After doing some tests they discovered her liver was ¼ larger than it should be and had a gritty texture on it. She was admitted immediately. Because the medication was not appropriate for her seizures, all the bad side effects took place. This is why it is dangerous to take medication your body does not need. After four days in the hospital I went to see her surgeon to demand he rethink Lani’s surgery. I was not taking anymore chances with medications, nor would I let her keep having seizures that could cause permanent brain damage or, even worse, kill her.

He said that it would be too dangerous and the seizures would not cause as much damage as the surgery could. It is hard to know what to think or what to believe sometimes. He has performed three surgeries on her already. I thought he truly cared; he is an accredited brain surgeon. I said I would try one more thing but on my own conditions. I would try a ketogenic diet. It was medicating, but with food; it was been proven to reduce and stop seizures. I wanted her taken off all but one of her anticonvulsants, and if this did not work I was going to do what I had to do. With much fighting over trying Sabril, which was off the table for me, considering this last fiasco they agreed.

We were getting ready to go to Boston for a visit so I asked Leilani’s doctor for all of her medical records, tests, MRI results etc. The plan was to have a doctor at Children’s in Boston take a look at her case and get a second opinion. She gave me a consolidated report of Leilani’s case. She also gave us a referral for a doctor in Orange County and stated that she has been pushing for the surgery.

We made an appointment in OC before we left for Boston and that is where we met her new doctor. If you have ever had to deal with a surgeon you know that for the most part they are not very warm and fuzzy. Especially brain surgeons! I don’t know if it is the whole GOD complex thing, or they have been numbed from seeing so much. Our new doctor was the exception to this rule. He insisted we call him Devin and hugged and kissed Leilani as if she was his own child. This gave us great comfort. To Dr. Binder Lani is a person not just a patient. Every time we go to his office he is introducing us to the staff that does not know us. He even keeps a picture of her in his shirt pocket.

Chris and I did not come to our decision easily, this was a big surgery. For the most part, small children recover from it nicely. But Lani was only one year old and this would be her fourth surgery in a year, something that in itself is unheard of. The other issue is Leilani had a tumor on the edge of the left hemisphere. And there was a dispute on whether it was on the basal ganglia or the third ventricle.

The basal ganglia are associated with a variety of functions, including voluntary motor control, procedural learning, relating to routine behaviors or “habits” such as eye movements, and cognitive, emotional functions. And the other was the third ventricle, which is mainly responsible for storing cerebral fluids, and not as dangerous to operate on. But our doctor was sure it was the third ventricle and that it would be ok. So with that we put our trust in him and consented to operating on both sides. The decision was the toughest decision we have ever had to make. This could have stopped her seizures or left her paralyzed, but we wouldn’t know until it was all done. Sometimes you just have to trust in your gut and in GOD to that everything will be ok. And it was.

Leilani’s surgery took three hours and she was screaming “Mamma” in the recovery room. Music to my ears! She was on her way to a speedy recovery, eating and showing that she recognized us. Her surgery was a success! When they wheeled her to PICU I noticed she did not have a drain. I asked why and the doctor told me that neither he nor the hydrocephalus surgeon who assisted him thought she would have any problem draining the fluid naturally. Wrong! Within a few hours her head swelled up like a balloon. She was throwing up and screaming from the pain. I was so mad because I asked them right out of surgery if she needed it and they said no. This is something that can be done at bedside, so if they did it when I asked then she would not be going through this.

One mistake does not reduce him as a doctor to us. Yes we are still dealing with the effects because she has a little droop to her eye, lots of nerve damage, and is still on a feeding tube. But in the grand scheme of things she is alive and seizure free. So we still stand by our decision to have him as a surgeon and would recommend him to anyone. He has since told me no matter how small the surgery, because of Leilani, he will always drain, so lesson learned I guess.

She would spend the next month in the hospital recovering from this. I slept in the hospital every night. The only time I left was two hours at night to shower and eat, but other than that I was a permanent fixture in the hospital. For the most part the hospital was top notch and the staff was great. There were moments where I was glad I didn’t leave, like the time the nurse forgot to stop the drain and her CSF was all over her bed! Or the time I did leave and came back to find my baby sitting in her own throw up! Of course these instances were few and far between. We were there for a month and it was a very busy PICU. More so than any other I have ever been in. So on a scale from 1-10 I give them an 11. They were truly amazing.

We had a genealogist who was trying to uncover what caused all of this. She took one look at Chris and could see he had TSC. She asked us to talk to his doctor since he has had brain surgery in the past and was under the care of a neurologist, but his doctor said no, he had Sterg Weber disorder, so we all let the idea go. Lani’s heart was fine, and after all, she was born with cancer. As time went on, I did a lot of research online about TSC, and a week before we were to be discharged, I noticed the smallest white spot on the side of her leg.

I called the doctor in and asked if she could do a DNA test on her to rule it out. I need to know how to go forward with Lani’s treatment and what to expect. Her test results came back positive. This weighed heavy on our hearts, but it was better to know than not know. We later had Chris tested and he also tested positive for TS1.

Going forward, Lani sees every week: two physical therapists, one occupational therapist, an early interventions therapist, an eye function therapist, chiropractor, acupuncturist, a feeding therapist and a speech therapist. And this is just to be able to do all the things that all of us take for granted, like walk and talk and feed ourselves. We work with her every day all day! And that is what it will take. But she will be able to function on her own if I can help it! She is the strongest little girl I know and if anyone can do it she can. With all of this we still and always will feel blessed to have Leilani as our daughter. She has given us so much love and hope and we would not change a thing. GOD has a purpose for Leilani. I truly believe that.

Please check out Kimberly’s Facebook page: Love 4 Lani

Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

Why We’re Thankful for TSC

May 17, 2013 Rebecca Gaunt 1 Comment

Day 17 of Guest Blogging for TSC Awareness Month

By Guest blogger Catrina Jones (Monroe, Louisiana)

Note from Mixed Up Mommy: This was originally a Facebook post in the TS Alliance forum. I asked if I could share it here because I think it’s such a great story.

My daughter Hannah Grace, now 11 years old, started having infantile spasms at 8 months old. After an EEG was performed, it was determined that she had idiopathic benign occipital epilepsy. We were then referred to a local neurologist a month or so later, who ordered MRI/Brain prior to our appointment. I will never forget the day I received the call with the MRI results from the neurologist’s office where the nurse told me over the phone (while I was at work) that it was suspected our daughter had tuberous sclerosis. She said I needed to pick up the film and report to bring with us to Hannah’s appointment, and the doctor would discuss this further. When I asked her what tuberous sclerosis was, she could not tell me and informed me that the doctor would have to give me that information. I was in such shock and dismay that I dropped the phone at work crying, and a co-worker had to finish the call with the nurse. This co-worker immediately went to the internet and pulled up a fact sheet about TS and began reading it to me. After I composed myself, I called my husband and the rest of our family with this news of our daughter having something we had never EVER heard of. I remember having this huge fear of the unknown. When we took Hannah Grace (who was 11 months old at this time) in to the appointment, the neurologist said that he wasn’t sure 100% she had TSC because of lack of other symptoms, but when he started naming off things associated with TSC, the white patches were present on Hannah Grace. He took the woods lamp and inspected Hannah Grace, and to our surprise, she had a LOT of them on her body. He then said he had to concur that she did have tuberous sclerosis. As for her infantile spasms, he ordered her phenobarbital. Later on, her IS started developing into partial seizures so Tegretol & Topamax was added to control those.

So, with the new diagnosis of TSC, began a life of yearly testing and doctors visits. Since Hannah Grace was so young when she was diagnosed, we were unsure of the severity of her TSC. Did she have a mild case or was hers more severe? She was meeting milestones at her regular pediatric checkups, so we were hoping that by controlling the IS, just maybe she would live normal life. She does have some mild developemental/learning/cognitive delays, but at 11 years old, she is pretty much living a normal life that TSC says she should not be living. She has been seizure free for eight years now, and we could not be happier with her progress and accomplishments . She has overcome so much in her life. But our story doesn’t stop there.

Where most of you hate/despise TSC, our family is THANKFUL for it. You see, it was because of Hannah Grace having TSC that we went to her yearly checkup with the neurologist this past July. Actually, it was a six-month checkup, because we had been weaning her off of Topamax, since she has been seizure free for so long. The neurologist always runs labs to check her medicine levels. Those labs that day came back to show Hannah Grace had extremely low white blood counts, and it was thought she was developing a virus. We were told to take her to her pediatrician for a followup to let them check her for mono or other viruses. We went into the office the next day, and they re-ran her labs to find that her counts had dropped even more. They tested for numerous viruses and all came back negative. We were sent home in hopes that she had some type of virus that she would rid itself over the next week, and were told to come back later for repeat labs. The following week, her counts were even lower than the week before. The pediatrician was baffled because Hannah Grace showed no signs of being sick, yet her counts continued to decline. We were sent home under strict isolation and told if she developed a fever to get her to the ER. That night brought the fever and an ER visit. She was admitted to the hospital where our new journey was just beginning.

For two weeks in the hospital, Hannah Grace fought extremely high fevers, developed a rash, and her chemistry levels began to fall. She eventually ended up in PICU, where the

MD told me she was critical and needed to go under a pediatric hematologist because her counts had bottomed out. It was determined that we would be transferred to a Baton Rouge Children’s Hospital under the care of a hematologist. When we got there, they believed she had an infectious disease, so tests were run for every infectious disease/fungus there was, and everything came back negative. After a week of this, a bone marrow aspirate was done August 7, 2012, and we were told on August 8, 2012 that Hannah Grace had acute lymphoblastic leukemia. OMG, for a second time in our lives, we were hit with devastating news. Our little girl has cancer. The last ten months of our lives have been spent at St. Jude Children’s Research Hospital & Affiliate fighting leukemia. I would give anything in the world if I could go back in time to the days of her having to deal with just TSC. TSC we were managing and doing well. Hannah Grace is in remission, but she will have to be in treatment for the next 2 1/2 yrs to make sure she is completely cured of leukemia. This road has had many difficulties, but we are most THANKFUL that St. Jude has decided to help treat her TSC along with the leukemia. This week, we came back St. Jude because they started Hannah Grace on Rapamune (Sirolimus) to try to shrink the SEGA and other tumors she has throughout her body (mostly on her brain & kidneys). We are so THANKFUL to have this opportunity, where we probably wouldn’t have had it back home in our small town. God works in mysterious ways!

We invite you all to checkout our pages at:

https://www.facebook.com/LouisianaTuberousSclerosisPage

and https://www.facebook.com/HannahsHopeForHealing.

Mutation timing counts for tuberous sclerosis (futurity.org)

Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

Humor Gets Us Through the TSC Battlefield

May 16, 2013 Rebecca Gaunt Leave a comment

Day 16 of Guest Blogging for TSC Awareness

By guest blogger Renee Seiling (Westbury, New York)

My husband and I married in 2007 after dating for over six years. We always planned to try and start a family in September 2008, and we did get pregnant that month. But we never planned for our daughter to be born with an incurable disease.

May 15, 2009 we heard devastating news; they found rhabdomyomas on our unborn daughter when we were 35 weeks pregnant. That is when we first heard the words tuberous sclerosis. I remember crying at home that night and my husband said to me “She can feel everything from you. You are stronger than this and she is going to get her strength from you, so no tears, so she’s as tough as you are.” He was right, so I started doing research, met with genetics doctors, cardiologists and had sonograms every 3 days to check on her. They induced our pregnancy three weeks early and admitted her to the NICU.

It was so hard to not have your baby in the room with you and having to go down to the NICU for feedings and for the doctor’s rounds. But the hardest was watching the days when babies were not well and they would be crashing right before your eyes. I did not know any of the moms there, but we all felt for each other. Seeing babies that have lived there for four months made you realize that you did not have it so bad.

When she was 4 days old a brain MRI confirmed TSC. Zoey was born with countless tubers on her brain and a subependymal giant astrocytoma (SEGA) as well. We were told by her neurosurgeon that it is the second largest SEGA he has ever seen, lucky us. Fortunately we were also told that if it ever grew it is operable. Zoey had blood work to find the strand of TSC she might have and at 8 weeks old it was confirmed she has TSC-2.

We had Zoey start early intervention when she was 4 months old, one of the greatest decisions we ever made. She was granted physical therapy, and we met Sonny. Sonny was Zoey’s first best friend. He came to our home 3 times a week, and Zoey just loved him. He helped us through all of the hard times. He was there for her no matter what. When we moved from Queens, NY to Long Island, he even followed us. He made sure he found a company that also worked with Long Island early intervention so he could stay with her. He was with us for 3 years, and I cried on his last day. He will always be remembered.

Zoey also had speech therapy and occupational therapy at home three times a week. We met Hadiah, a no nonsense OT who always made Zoey work harder and still have fun, and Kelly, her speech therapist ,with whom Zoey fell in love with immediately. Her bubbly personality helped Zoey sit through her 45 minute sessions.

Zoey is developmentally delayed; she has been going to school since she was 2. Zoey has a team of therapists and teachers that have helped tremendously. Zoey can wave hello and goodbye, blow me a kiss, give high fives, climb stairs, run, jump and loves spinning to get herself dizzy. These are simple gestures that I thought she was never going to be able to accomplish. While she is non-verbal, we always have hope that one day she might find her voice.

Zoey has been through more in her four years of existence than most go through in a lifetime. When she was 6 ½ months old she started having infantile spasms, I remember calling the on-call pediatrician because it was a Sunday, and she told me, oh she’s probably just teething. Zoey would cry, and when she stopped, her arms would go above her head and her eyes would roll to the back of her head while her legs crunched up. I knew it was not teething, so I called her everytime she had a spasm and had an EEG appointment made in two days.

Zoey spent her first Christmas Eve in the hospital and started a steroid, ACTH. I had to give her an injection every morning in her thigh. I remember the first time I had to do it at home. My dad came over to help me and hold her leg because I was so scared she was going to move. Lets face it, this steroid was a nightmare. All she wanted to do was eat, sleep and poop. But thankfully, because of the TS alliance, I was able to make contact with a fellow TSC mom, Cindy. She helped me get an appointment with a new neurologist, Dr. Orrin Devinsky, at NYU. He wanted her to start Sabril immediately. I am not even sure if Cindy remembers helping us, or if I ever thanked her enough because with Sabril, Zoey’s spasms stopped after the first dose and she still has to take this medication twice a day.

Zoey’s development had worsened after the spasms. She had a difficult time trying to crawl because she had gained five pounds in three weeks from the steroid, but Sonny, our superhero helped her. She was crawling at 9 months and started walking at 15 months old.

Then when she was 17 months old, Zoey vomited and turned blue. She was rushed to the hospital, where countless medications were given to her, and even a defibrillator was used on her. I thought we were going to lose our little girl. Once they put a central line in her thigh, the medication finally stabilized her after two hours, the longest two hours of our lives. They diagnosed her with Wolf Parkinson’s White, an extra electric charge in your heart causing dysrhthmia. Zoey spent eight days in the hospital trying to find the right dose and right kind of medication to help keep her heart beat at a normal rate. She takes flecainide and amiodarone still, just to maintain her rhythm. We spent Thanksgiving in Columbian Presbyterian Hospital that year, and you know you’re supported when your sisters and brother-in-law show up with Thanksgiving dinner, crockpots and all. We ate a very thankful meal that year for having our Zoey with us.

Well wouldn’t you know it, two days after she was released, Zoey was unresponsive again; we assume it’s her heart and call 911. She gets to the hospital, and it’s now seizures… hospitalized again, and prescribed Keppra. Well that month of December 2010 proved to be a crazy one. I stayed with my parents because they live so close to the hospital. That was a good decision because she had a seizure every 2 weeks that she could not get out of; she was hospitalized a total of eight days in December, including New Year’s Eve.

Some years are good, and some are bad. Last year, 2012, Zoey had some rough seizures. Zoey never gets out of her seizures. She always needs diastat, an emergency seizure medication, to stop the seizure. But then she has shallow breathing so she needs to be intubated…that happened six times last year. Most of Zoey’s seizures have been febrile as her immune system is slightly weakened, since she is on a newly FDA approved drug called Afinitior, a chemotherapeutic drug. Afinitor is prescribed to try and shrink a TSC person’s SEGA. Zoey’s SEGA has shrunk and is now stable. Her doctor said that she still might need brain surgery one day because of how large her SEGA is, but for now, thanks to the medication, she does not need to have any surgeries. We also had her start a vitamin, probiotic, and that seems to help her fight off any illnesses she might receive.

While my husband and I never planned to have a special needs child, we do. Now we just try to keep our sense of humor about everything, and realize she is the strongest person we both know. I mean when you get a needle stuck in your arm to take blood for the umpteenth time, and you just look at it, and then just start playing with your iPad like the needle is not there, that’s pretty amazing for any child.

Zoey is also one of the happiest kids you would ever meet. She is always smiling, laughing and hugging everyone. Everything she goes through has not changed her demeanor. She refuses to let TSC run her life and chooses to just be happy. Her outlook on life has helped us keep our sense of humor and live everyday to the fullest.

I like to find the humor in the fact that you never thought you would be writing her teachers asking if she had any bowel movements because of how constipated she gets from her medications. Or your mom texting you that her poop was “hard like little nuggets, I gave her some prunes.” But it’s humorous and gets me through the hard days.

We try to find the humor in everything we do, even the hospital visits, especially when you are dealing with doctors who sometimes forget how to talk to parents. Zoey had been intubated and was being moved to PICU when her tube came out and she started crashing in the hall. They had to rush her back to the ER to fix it. Everything was fine in a few minutes, but the ER doctor turns to me and goes, “Well that was scary, huh?” Really doc, is that appropriate to say to the worried mom? And then he high fives your husband and says ,“Until next time.” Your husband just replies back “Well, I hope not.”

Nurses have also told us that we are the calmest parents they have ever met. We have learned in Zoey’s 26 hospitals stays to just kind of stay out of the way, let them do their job and when she is stable you can hold her hand and lay with her. We remember a nurse saying, “You guys are amazing. I mean you are sitting here watching and just waiting patiently, when we have moms here who have a kid that stubbed a toe and they are freaking out.” See, humor gets me through these times.

Our family refuses to receive a “pity party”. Instead of people feeling sorry for us, we decided to try and raise awareness for an unknown disease. We have attended the TSC walk in Wantagh Park, NY every year it has existed; this will be the fourth year. Our team is Zoey’s Entourage. All of our family and friends come and support TSC and our team has raised over $15,000.00 for the TS alliance. This year the walk is on September 21, 2013. You can find our team page below, with pictures of Zoey and her story:

http://my.e2rm.com/personalPage.aspx?SID=3720000&LangPref=en-CA

We’ve also met an amazing family, the Spears, whose daughter, Ally, also has TSC and they are the chair people for the Wantagh walk. Their family has a fundraiser every year for TSC before the walk to raise donations. We finally got to attend last year and donate some baskets for the raffles. It was a great time. I met fellow TSC families, watched people empty their pockets for an unknown disease, and win a couple of baskets as well! If you are in the NY area and want to get out and have a good time, and raise donations to help find a cure, join us or if you know a company or yourself would like to donate items to for the raffles, contact me and I can give you some information:

August 12, 2013 from 6PM-11PM.

The Nutty Irishman

323 Main Street

Farmingdale, NY 11735

Just $10.00 entry fee, for a fun time, with live music, raffles, Chinese auctions, food and a cash bar.

This year our local High School’s Key Club had a fashion show honoring Zoey. They were raising donations for our family’s medical expenses and helped raise awareness for TSC. The halls were covered in blue TSC ribbons and the crowd there was their largest yet. Even the elementary school wanted to get involved and had a “Zippers for Zoey” day. They all wore zippers and if they did not have one, the teachers put zippers on pins and the kids wore them all day. The Key Club made a video raising awareness for TSC and sharing Zoey’s story. I might be a little biased, but it’s the best video ever made, it should win an academy award. The link is below if you would like to learn a little more about TSC:

http://www.youtube.com/watch?v=PEK9N4NgwEY

Our family will always raise awareness and give everything but up in trying to find a cure. Zoey has had seven MRI’s (so far), been intubated six times, has had 14 EEG’s, and too many blood tests to count, but she gets up from all of her procedures with a smile on her face. So we just take it one day at a time. Some days are harder than others, but Zoey does not let that bring her down. She gives the greatest hugs in the world and is our warrior. I can listen to her laugh all day long. So no pity party please; we are way too busy laughing, hugging and smiling the day away.

Renee

Email: Rseiling3@gmail.com

Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

Our Roller Coaster Journey with Tuberous Sclerosis

May 12, 2013 Rebecca Gaunt Leave a comment

Day 12 of Guest Blogging for TSC Awareness Month

By guest blogger Pamela Wolthuis (Portland, Michigan)

My husband Chuck and I were married on May 23, 1997. I brought one beautiful 4-year-old daughter, Melanee, into our marriage. Little did we know on that day almost 16 years ago, that soon we would be on a journey we never expected, and that Melanee would be the only “healthy” child we would have. (Chuck loved her as his own, from the day we met on a blind date that she went on with us. He would eventually adopt her, as soon as he legally could). Less than one year later, on May 17, 1998, we welcomed our son Nicolas into the world. He was the cutest little boy I’d ever seen, and the joy of all of our lives. When he was about four months old, he had surgery for a hydrocele repair. He seemed to be fine, and then all of a sudden he was bringing his legs up to his chest, almost like he was doubling over in pain. He would cry, do this jerking with his legs, and it would go on for hours. Several times we took him to the ER, but by the time they got around to seeing him, he would stop, and they would send us home saying he was fine. We knew something was wrong, but no one seemed to believe us. I called the surgeon, but he was rude and arrogant, telling me, “He is fine. What do you want me to do, cut him open again?”

We took him to the family doctor, who agreed with me that if we thought something was wrong, there very well was a problem that we needed to get to the bottom of. His exact words I can remember to this day: “Pam, you can have a room full of the best doctors in the world, and you as a mom, know more than them about your child. If you say there is something wrong, I believe you.” He sent us on for testing at the hospital. Nicolas was set to have a ph probe, but while there, a resident looked at our baby, said he would like to do an EEG, and would that be ok? We said yes, but thought it was a waste of time. That resident was the one who cracked the case. I can still remember the neurologist coming into the hospital room and telling us our perfect, beautiful baby boy had a terrible disease called tuberous sclerosis. He told us Nicolas was having seizures. He had epilepsy. I vividly remember telling him, “Well, if you know what is wrong, fix it.” He said he couldn’t, that there is no cure for this disease, and that there really isn’t much even known about it. He left the room, and I remember just crying, telling Chuck to “tell him he’s wrong. There’s nothing wrong with our baby’s brain.” Soon another doctor came in, telling us, “All you can do is take him home and just love him for the three to four years you will have him.” Yes, he told us our baby would die by the time he was four. I was inconsolable, and Chuck was feeling like it was his entire fault because he was told he passed the TS gene on to Nicolas. They could tell, just by looking at him and the angios on his face, that he had tuberous sclerosis. The angios that he never had a name for up until that point, that he had always worried his baby would have, but that doctors had assured him were no big deal.

When the neuro came back, he told us the other doctor was wrong, and that Nicolas wasn’t going to die. It took many doctors to convince us that he wouldn’t die, but finally we believed them. The first doctor who had told us didn’t know and had told us the worst case scenario. Nicolas was started on a seizure med that didn’t help. The neuro put him on ACTH, a steroid injection given for seizures. It had terrible side effects and didn’t help our baby. At the next trip to the family doctor, he told us about Dr. Chugani in Detroit, who was a world renowned expert in TS. We were so lucky to be so close to him and were able to get in fairly quick. Nicolas was started on vigabatrin, a drug we couldn’t get here in the US, but had to go to Canada for. Insurance wouldn’t cover it, and it was expensive, so we went into serious credit card debt to obtain it. (More than a decade later, we were still paying for it, and finally had to settle it with the credit card companies, ruining our credit, so that we could afford to live. But we do what we have to in order to help save our children!) It helped, but he still had seizures and was beginning to regress. He was slipping into his own little world where he wasn’t interacting with us anymore. Dr. Chugani recommended brain surgery.

In June 2000, Nicolas had his first brain surgery. It didn’t help his seizures, so we were angry and regretted doing it. Then, all of a sudden, he was interacting again, and our happy boy was back! The surgery was successful, because even though it didn’t stop his seizures, it helped him developmentally. In 2003, we were advocating along with Dr. Chugani for more surgery. The surgical board recommended him, and he had his second resection. This time his seizures decreased. He still had some seizures and was still on meds, but he was progressing.

Fast forward another year…..We finally decided to have another baby, with the thinking that God wouldn’t give us two disabled children. On December 26, 2005, our beautiful Malarie was born six weeks early. Within an hour of her birth, she had her first seizure and was diagnosed with TS. Our hearts broke again, grieving for the “perfect” baby we prayed so hard for. That is what people who have never been on this journey can never fully understand. Although, yes, our babies are alive, we still have to go through a grieving process after a diagnosis. No, our child hasn’t died, but our hopes and dreams for what was supposed to be have died. We are forced into a place we never intended to go. But just like the beautiful essay “Welcome to Holland” teaches us, we learn that we are not in a terrible place, just a different place. So we learn to accept it, and see the beauty and good in it. It’s not a place we willingly chose, but it’s not a horrible place either.

Over the years our kids have seen more medical professionals than most adults ever do. Our list includes a neurologist, ophthalmologist, nephrologist, cardiologist, geneticist, gastroenterologist, dietician, neurosurgeon, dermatologist, physiacist, psychologist, psychiatrist, countless occupational, physical, speech, and feeding therapists, and pharmacists. We also have the whole special education team at school. The kids have had home based therapies, school based therapies, outpatient therapies, and soon, possibly inpatient therapy for our son. We have been fortunate to meet some outstanding professionals, and some have even become our friends.

Today our children are 20, 14, and 7. Melanee is a happy, intelligent college student who has more compassion than most young adults because of the experiences she has had with her “special” siblings. We know without a doubt that she will become a remarkable adult, wherever her path in life takes her. We worry, because when we are gone, she will become the guardian of her siblings, and is this really fair to her? She will be tethered to them, and they will always be a major part of her life. She has never once complained, and has reassured us that she WANTS to care for them when we are gone. We thank God every single day for blessing us with such an amazing daughter! Nicolas is now almost 15, but functions at a 3-4 year level. He is autistic, has behavior issues that can occur unexpectedly at any time, is not potty trained, and may never be. He takes eight different meds for seizures (which are still not completely controlled), behavior, and a nerve problem he just started with after his most recent brain surgery one and a half months ago. He is also the funniest, sweetest boy (when not in meltdown mode) we’ve even known. His laugh is infectious and comes all the way from his toes! Malarie is seven, but functions like an infant. She depends on us for everything. She is on six seizure meds and still has seizures several times per day. Like her brother, she cannot be weaned off any of them, because then she starts seizing constantly. She cannot walk or talk. She can, however, scoot on her butt across a room at an incredibly fast speed, and communicate with smiles and cries. Her smile can light up a room in no time at all.

This is our crazy, roller coaster journey of tuberous sclerosis. We go day to day, sometimes minute to minute. It isn’t always easy, but it isn’t always bad. Our days are filled with laughter, and sometimes tears. We have lost friends, and even family, along the way, who can’t understand or cope with the way we live. Our children will always come first, with no exceptions. We have learned the hard way who we can count on, and who our true friends are. For that, we are grateful. We know the miracle of something as small as a smile, or the quiet babbling of a child. It isn’t a life we anticipated, but it is a life we enjoy, filled with love and acceptance. In the end, isn’t that what everyone is searching for?

Advance in tuberous sclerosis brain science (medicalxpress.com)
Alysse Mengason: A Mom’s Journey With Epilepsy (everydayhealth.com)

Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

A Few White Spots

May 10, 2013 Rebecca Gaunt Leave a comment

Day 10 of Guest Blogging for TSC Awareness Month

By guest blogger Annaka Vimahi (Utah)

I have wanted to be a mother as long as I can remember. You can imagine the heartache my husband and I experienced when we didn’t have our first child for almost 9 ½ years. I felt so much joy when our son finally arrived, but I also felt a twinge of fear. I couldn’t explain it. I just didn’t feel that everything was all right. After Nami’s birth I was told both apgar scores were 9, and I tried to have that great news reassure me that we had a healthy boy. It didn’t. I just couldn’t shake the feeling inside me that something was wrong. I tried to convince myself that it was just because I wasn’t used to receiving good news, considering many challenges I’d had up to that point in my life. I tried to tell myself that I was being a pessimistic person and that I should enjoy my dream to be a mother finally coming true.

A couple of significant things happened in the hospital after Nami was born that didn’t seem quite so significant at the time. First, he basically came out arching his back. My mom questioned my dad (Nami’s pediatrician) about it. I could see my dad trying to keep an open mind and discussing many possibilities of why this was. One was that sometimes babies with neurological issues do that. Second, a CNA noticed a weird heart beat and notified the other staff. An EKG was ordered and the results came back as normal. We left the hospital being told we had a healthy baby boy.

I kind of succeeded in being able to relax for the first three weeks of Nami’s life, enjoying lots of cuddle time. When Nami was three weeks old, I took him to my parents’ for my sister to take some pictures of him. Near the end of the photo shoot, I noticed two white spots on the back of Nami’s leg. I am embarrassed of my reaction now, but at the time I started freaking out. I started to cry and ask, “How could my beautiful child have to have such ugly spots on his leg? Are they birthmarks? Is it vitiligo? This is so unfair!”

I remember badgering my dad with questions about the marks. He remained calm like he always does when I’m frantic about something. I told him that I had had a dream about my son having vitiligo and I just knew that’s what it was. He told me not to get ahead of myself, but that he would call the dermatologist and see what he thought. I left that night feeling angry that my son’s physical appearance wasn’t perfect. I thought, “How could this happen to us after we endured so much before he arrived?”

Over the next couple of days I noticed more white spots appearing. (I now know that Nami was born with the white spots, but as his jaundice went down and the pigment of his skin appeared, the white spots started to appear.) We finally heard from the dermatologist who suggested using a cream to see if it was eczema and we could clear it up. I was a bit suspicious that my dad wasn’t telling me everything so I pressed him about what else these spots could mean. He said that sometimes spots like this could be ashleaf spots and are a sign of a very rare neurological disorder, but that he didn’t want me to have to worry about that until we ruled out eczema. I let the issue go, but I felt that my dad was trying to protect me from something he knew was a possibility…something that was really bad.

For the next couple weeks I put the cream on Nami religiously. I checked his spots multiple times a day and even convinced myself at one point that they were getting better. Then I checked the next day and they were still there, as clear as ever. We made an appointment to see the dermatologist. I continued to feel like my dad knew more details than he was telling me. I feel now that he was hoping that he was wrong in thinking that it was TSC and he wanted to get the dermatologist’s opinion before verifying the horrible news.

While at the appointment, I could quickly see that we were not going to receive good news. The dermatologist tried to mask his sadness for us as he confirmed that the white spots were ashleaf spots and that he felt our son likely had Tuberous Sclerosis Complex (TSC). He printed off a couple of pages from one of his medical books to read over. I felt my body instantly go numb. I couldn’t believe this was really happening. That night I cried and cried and cried. I hugged Nami tight as my tears drenched his head. The dermatologist and my dad tried to keep reassuring me that there was so much variation within this disease and not to think of the worst. But, there that feeling was again. I knew something was horribly wrong. I felt my child would have it all.

It’s amazing to me how little I knew about TSC at the time considering the knowledge I’ve gained with my new obsession over the last four years. I recorded my thoughts in an email to my family the next day:

“So, what do I know? This is most likely a genetic mutation that can cause many problems. The problems range from neurological problems such as Parkinson’s and seizures to a 50% chance of mental retardation. ADHD, autism and tumors on various organs such as the brain, heart and kidneys are all possibilities. Major skin problems, eye problems and teeth problems are also possibilities. It’s difficult for us to know what Nami will have to endure until he gets some testing and experiences things as he grows. Dad is a lot more familiar with correct side-effects than I am. My mind is not too sharp right now, so I don’t want to say something wrong. I know the biggest thing we need to do is some genetic testing. It seems that dad also told us of about 5 specialists we’d need to see right away. We’ll need to get an EKG and brain wave test, an MRI and eye testing as well as some other tests that I can’t remember. He will have to get an MRI and eye test yearly. Whew…this is overwhelming!

This summer will be very different than what I expected and it’s only the beginning. I kinda feel like I deserved more of a break than I received with struggles, but I guess that’s selfish. Salesi and I have been through so much and grown through it all. During our most difficult times I felt that we were being prepared for something else. Those thoughts SCARED me but I guess I was right. It seemed quite a pessimistic view on life, but I’ve learned to be very tentative with good news. I’ve learned to try not to get so excited because it seems like disappointment is always around the corner. Throughout Nami’s birth, I took all good news in stride but had a dull gnawing sense that I didn’t know everything. My thinking throughout his short life and in the past has been that our child would be autistic. I am wishing that was it. I am wishing that what was first a disappointing discovery of what I thought were birthmarks were just that. My perspective on life has changed in an instant. Now I can see that ALL the difficulties I’ve experienced in my life have prepared me to be ready to take care of this special child. I am not shocked at this news although I can’t express the heartbreak I feel. I think I was prepared to receive this news so that I would be able to stay sane and make the choices I need to that are in Nami’s best interest.”

So far it has been a really tough road for us. Nami didn’t get the easier road with TSC (I say that knowing that “easy” and “TSC” do NOT belong in the same sentence). We have been told he has hundreds of brain tumors (no one is able to count exactly how many because there are too many), both cortical tubers and numerous SENs. He has an eye tumor, dozens of heart tumors (including one on his mitral valve which makes his blood kind of backwash), kidney tumors and cysts, and he already has 3 skin manifestations of the disease. He started having infantile spasms when he was 4 months old and has endured seizures most days of his life. He is currently having anywhere between 100-300 seizures daily despite being on 4 anti-epileptic medicines. We have made numerous trips to the ER due to seizures we cannot stop. Most of the time he is admitted. Our son has stopped breathing twice and had to be intubated and life-flighted both times. Nami is autistic. He can only say a few words and most of the time he only says them with prompting. He has major behavioral issues and at times he lashes out and can be destructive. He does not have good sleeping patterns. I feel like Nami would be much worse off were it not for my dad, though, the best pediatrician in the world (no I am not biased =).

I think back on the day I first saw Nami’s white spots. Oh how I wish now that the marks had just been birthmarks. It’s amazing how perspectives change so quickly. In a few short weeks I went from being extremely vain to wishing for all my son to have is some simple marks on his skin. Despite all of Nami’s challenges, I would not change him for anything. He is the light of our lives. He endures so much yet he smiles and laughs a lot. He loves his little brother. He sees the world in a unique way and teaches us to take time to see things his way too. He brings light to everyone who comes in contact with him. He hugs people. He makes us want to be better people. Every accomplishment he makes is a HUGE celebration. He is a FIGHTER! We are so blessed to have him as our son.

Please check out Annaka’s blog at www.afteritsoaksin.com

Advance in tuberous sclerosis brain science (medicalxpress.com)

Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

Finding Family Through TSC

May 8, 2013 Rebecca Gaunt Leave a comment

Day 8 of Guest Blogging for TSC Awareness Month

By guest blogger Karren Nelson (Brunswick, Ohio)

My son Joel was born on February 3, 2011. After struggling for a couple years with infertility, my husband and I felt extremely blessed when we were finally able to hold our precious miracle in our arms! Doctors did routine exams on Joel after he was born. They told us he was healthy, but they did notice a long white patch (almost looked like a blister) on his right arm. They had no idea what it was or what caused it, so we were sent to a dermatologist when he was around three months old. By the time we saw the dermatologist, the white patch on his arm had changed in appearance and texture. The dermatologist told us it was linear epidermal nevus–just a cosmetic thing and we had nothing to worry about. We went home that night feeling relieved.

Months later, when Joel was seven months old, he began doing a strange head nodding thing. He would slowly drop his head and then quickly jerk it back up. The first time he did it we weren’t sure what to think; we had never seen anything like it before. When it continued the following day we knew we needed to see a doctor. We quickly scheduled an appointment with his pediatrician, and we tried our best to video record the heading nodding episodes to show the doctor. The pediatrician watched the video but almost sent us home, telling us he didn’t think we had anything to worry about. I knew in my heart there was something wrong, so I spoke up and questioned whether it could be somehow related to the white patch on Joel’s right arm. He was honest and said he had no idea, but he would call the dermatologist to discuss it. The next morning the pediatrician called me and said we needed to see a neurologist because Joel needed to have an EEG as soon as possible.

An hour after Joel’s EEG we were able to see the neurologist to discuss the results. The neurologist walked in the room, sat down and said, “The EEG showed abnormal activity which we believe is seizures, mostly on the left side of his brain, so we would like to do further testing to rule out a condition known as tuberous sclerosis complex, which can cause tumors to grow on the brain.” We had no idea what she was talking about. We had never heard of TSC before that day. I honestly can’t even remember anything else that was discussed during that appointment… All I could hear was my baby might have tumors on his brain!

The next step was for Joel to have a sedated MRI. We were terrified. I couldn’t handle being in the room and seeing Joel be sedated so Jeremy stayed by his side. When he walked out with tears in his eyes, I lost it. He told me he never wanted me to see that. It was the hardest thing he ever had to do. The nurses told us to go have lunch while we waited. We walked to the cafeteria but we could barely eat anything. We kept looking at the clock, wishing time would speed up so we could see our baby again.

When we finally received the MRI results we were devastated. The MRI showed Joel has tubers on his brain. Further testing also revealed he has rhabdomyomas on his heart. The good news is we were able to control his seizures very quickly after trying only one medication.

The hardest part of this whole thing was that we were miles away from any sort of family support system. We were living in Washington state for my husband’s career with the Navy. Jeremy’s unit was supportive, but we still felt so alone. During our first Step Forward To Cure TSC walk we realized we were wrong–we did have a support system there. A group of military friends came out to walk with us so we wouldn’t have to walk alone. That meant more to us than any dollar we were able to raise! I still get emotional talking about it!!

These days Joel is doing well. We have to monitor his weight very closely though, because if he gains too much weight, he starts having staring spells and we have to increase his dosage of medication. We are also watching his developmental growth very closely because TS can cause delays. He is in a grey area, right on the border of having delays in certain areas, so I’m constantly fighting with early intervention services to get Joel the help he needs. It’s frustrates me that we have to wait until he is extremely delayed to get help. You would think it would make more sense to be proactive with speech and occupational therapies BEFORE he is too far behind!

We recently moved to Ohio to be near my husband’s family. Moving here has been great because we are able to see a TS specialist. It’s amazing to be able to talk to a doctor that actually understands the condition and everything that comes along with it!

In February I had the amazing opportunity to join the TS Alliance for March the Hill. A very special lady named Dee told me that every time the Alliance gets together it’s like a big family reunion… She couldn’t have been more right! Everyone was so welcoming and instantly supportive. I don’t know how to explain in words how it felt to be surrounded by people that understand what we’re dealing with. I’m counting the days until we can all get together again though–I can’t wait to see everyone at the next “family reunion!” 🙂

Please check out Karren’s blog at http://www.nelsonfamily2008.blogspot.com

I’m a research scientist, and that’s why I drink | Kayleigh Dodd (guardian.co.uk)

Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

Diagnosed With TSC Less than a Month Ago

May 5, 2013 Rebecca Gaunt 1 Comment

Day 5 of Guest Blogging for TSC Awareness Month

By guest blogger Heather Lens (Stillwell, Oklahoma)

I’m not sure where to begin except right here…

Our world forever changed on April 13, 2013. It actually kind of started the Wednesday before, right before church. I was feeding Maddie and she kind of had a twitch, but it honestly didn’t look like anything more than that. By Friday I started noticing a small trend. She was twitching when she was getting tired so I went straight to the pediatrician. They were going to refer us to a pediatric neurologist in Tulsa for an EEG to rule out seizures. It was going to take a week to get into them. At the time it seemed like a good thing…If they aren’t getting us in that day it must not be anything too bad. Once again, they weren’t crazy seizure like activities.

By Friday night, Chris and I had noticed these movements were looking worse and her face was making different movements that we did not like. Saturday morning we headed straight to St. Francis Pediatric Trauma Center. It’s the nearest children’s hospital to us. We figured that they would be the best place to go if something was wrong, since it was a children’s center. They quickly got us admitted after seeing a video of one of her episodes, and that’s where everything went a little blurry. The first round of testing began… They drew blood to check her blood levels. They were thinking her potassium, electrolytes or sodium may have been off which could cause seizures. They then did a 20-minute EEG. Maddie did great with the test. She laid there like a champ as they hooked her up to 30 or so electrodes. I think Chris and I were hurting worse at that point. Seeing your beautiful perfect daughter hooked up is an awful feeling. Later on that day the doctor came in and broke the first part of our not so great news. Her EEG was abnormal and they confirmed that she had a diagnosis of infantile spasms which are caused by hypsarrhythmia. It’s where the brain sends of chaotic brain signals. Even though we thought something may be wrong, the news hit us like a ton of bricks. They were going to need to put on a EEG for 24 hours and monitor her by video as well.

The placement of the 24-hour EEG was the worst thing I have ever been through. Maddie was screaming, and Chris and I could only sit there and look at her while she was in such distress. It was the most helpless feeling ever. She ended up being on the EEG for over 30 hours. On the third day of our hospital stay they were going to do an ultrasound on her kidneys and abdomen to look for tumors that could be caused by a disease called tuberous sclerosis. They said that some babies who have IS can also have tuberous sclerosis. They also wanted to do an MRI to take a look at her brain. After finally getting the 24-hour EEG off, they took her back for her MRI, which was under sedation. It was another experience that no one should have to go through. She screamed as they sedated her and was fighting sleep so bad. She finally gave in and they took her limp body back to the room. My husband and I both broke down. Watching our perfect little girl look so lifeless was absolutely heartbreaking. We later got the results back from the ultrasound that there were no tumors on her ultrasound and we were thrilled! We just knew her MRI would come back clean. Unfortunately, we were wrong. The MRI came back with tumors on it. This news was the most devastating news our ears could hear…We looked down at our baby girl with tear-filled eyes. We didn’t understand how this could be happening to her and our family? She has been healthy and had been hitting her milestones. How on earth could this be real? After emotions of hurt, sadness, guilt and many more, we felt the prayers and realized that these conditions just make our precious girl that much more precious. We let it all out and then turned our eyes to the only one who can comfort us, God. We knew that we had been put in a crazy spot for a reason. God had entrusted Chris and I to take care of this precious girl because He KNEW THAT WE COULD DO IT. What an honor to be her parents! We know we have a lot of work ahead of us.There will be a trial of medicines to try and stop these spasms, and unfortunately TSC will be a condition she lives with. That being said, we know some people live a normal life with this disease. We are hoping for that, but will not be discouraged if that isn’t her path. We will change our normal and make it a new normal. I dislike the word normal anyway…Who wants to be normal? Not Miss Maddie!

“Whenever God gives you a gift, he wraps it up in a problem. The bigger the gift you have coming, the bigger problem you will receive. But the wonderful thing is that if you look for the gift, you will always find it.”

Please check out Heather’s blog at www.chrisandheatherplusone.blogspot.com

I’m a research scientist, and that’s why I drink | Kayleigh Dodd (guardian.co.uk)
The Neurosurgeon Asks: “How bad is it?” (savannalininger.wordpress.com)

Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

Cole’s TSC Diagnosis

May 3, 2013 Rebecca Gaunt 1 Comment

Day 4 of Guest Blogging for TSC Awareness Month

By guest blogger Lana DenHarder (Grand Rapids, Michigan)

Brian and I had been married for four years. Like most first-time parents we were excited to be expecting a baby and equally excited to have an ultrasound to learn the gender. We had spent weeks talking about names and imagining how the child would look, wondering what personality traits they would have, if they would get my clumsiness gene or Brian’s athletic abilities.

My first ultrasound was around nine weeks to verify dates, and I had another ultrasound around 16 weeks to learn the gender. We were pleased to learn we were having a boy. Brian’s visions of teaching the baby to play ball and coaching little league were starting to become a reality. Shortly after we learned we were having a boy we decided on the name, Cole Ryan.

My prenatal visits went along as planned. I jokingly told my doctor (whom I absolutely love) that I was disappointed that we didn’t get any good pictures of Cole at the first ultrasound and maybe I needed to have another. We both laughed! As my pregnancy moved along, around 30 weeks my doctor said that Cole was measuring small and maybe it was time for another ultrasound just to make sure we had the correct dates and that there was nothing wrong. I was thrilled because that meant I would have more pictures for his baby book. The ultrasound was scheduled a week or two later at our local hospital and I met Brian there…with a full bladder, as instructed. The tech took us back to the room and we were geeked to see Cole on the monitor. We asked goofy questions and the tech quietly answered them and then told us to wait and she would be right back. That should have been our first indication something was wrong. Ten minutes, twenty minutes, she didn’t return. Brian went out to try and find someone because my bladder was still full! The tech said we needed to wait in the room. Ten more minutes had passed and the tech returned with a doctor who looked at the monitor some more. He then said to get dressed and wait in the waiting room. Brian and I looked at each other oddly because after my previous ultrasound we didn’t need to wait around.

Waiting was torture. The doctor walked in and said he had spoken with the radiologist and they found a tuber on Cole’s heart. My heart sank. Brian and I were not expecting this at all. Ten minutes ago we were joking around and now our world was falling apart. That was the first time we heard the words Tuberous Sclerosis Complex (TSC). He told us we needed to follow up with our doctor in the morning. Brian and I walked out to our cars, a million things spinning around in our heads, hugged and said we would talk when we got home. I watched Brian pull away as I sat sobbing while trying to call my mom on the phone.

Our doctor referred us to a high risk OB to assess the situation. They confirmed that it was likely that Cole would have TSC but an official diagnosis had to wait until birth. I had weekly appointments and ultrasounds. At 37 weeks the doctors believed that the tuber was blocking blood flow to the heart and they needed to get Cole out. They tried to mentally prepare us for heart surgery within hours of birth. I was induced on September 4, 2006 (Labor Day that year) and Cole was immediately taken to the NICU. After additional scans, we learned that Cole also had tubers in his brain, too many to count. The next 25 days felt like months. Most nights I would go home and quietly cry myself to sleep, hoping that Brian wouldn’t notice.

Cole was touch and go for a while but didn’t need heart surgery after all. He developed complications and one night we almost lost him. I will never forget the day he turned grey. September 13th. Looking back, at the time we didn’t realize just how sick Cole was. The day before we were supposed to take Cole home he had his first shutter spell (seizure). He left the hospital on a seizure medication.

The first couple of months were normal, or as normal as we thought they would be as first-time parents. Cole was eating well and very snuggly, however he was starting to miss typical milestones. We started Early On Therapy, and eventually physical therapy, to help strengthen his core. Cole started to have infantile spasms at 6 months and the day after his first birthday he had his first grand mal seizure. Within Cole’s first year we had tried various seizure meds and nothing worked. Our one last hope before trying ACTH was the Ketogenic Diet. Brian and I thought about it and it made sense to us. Cole wasn’t eating solid table foods yet, and he hadn’t developed a taste for bad foods that we would have to take away for the diet, so this seemed like a good time. Cole was admitted to the hospital and three days later he went home on the diet. Within a few months we noticed a reduction in his spasms and no more grand mals. He was on the diet for three years. In the end, we decided to stop the diet because he started to fall off the growth chart.

During a routine urology appointment, after the doctor preformed an ultrasound, he had to tell us that multiple tubers had started to grow on both of Cole’s kidneys. Cole was three years old. We are fortune to live in Grand Rapids, Michigan with a fantastic Children’s Hospital, Spectrum Health and DeVos Children’s Hospital. Up until this point, all of Cole’s care could be managed by various specialists locally. After learning of the kidney tubers, we contacted the Tuberous Sclerosis Alliance and asked for recommendations for a nephrologist. That is when we found Dr. Bissler at Cincinnati Children’s Hospital. We spoke with Dr. Bissler over the phone and made an appointment to get a second option on a care plan. Dr. Bissler was fantastic. He took the time to talk to us and make sure we understood all of the options. We agreed with Dr. Bissler and decided to move forward with kidney surgery to embolize the largest tubers. They were the size of golf balls. During Cole’s six month post op visit with Dr. Bissler, we discussed the benefits of Afinitor for Cole’s kidneys and SEGA. Dr. Bissler had also introduced us to Dr. Franz. Dr. Bissler discussed Cole’s history with Dr. Franz, and they both agreed that Cole could benefit from Afinitor. He started it in February 2011. We have noticed many positive changes in Cole, in addition to the kidney tubers shrinking and a slight decrease of the size of the SEGA.

In addition to the heart and kidney tubers, Cole has tubers on his eye and skin lesions.

Cole is considered globally delayed and is on the autism spectrum. He started attending a special needs preschool when he was two. Watching the bus drive away with my son was scary, but I realize that was one of the best decisions we have made. Cole’s development slowly improved. He learned to crawl when he was 2 1/2, walk when he was 3 ½ years old and his speech continues to improve. Today, he has close to 60 words and phrases. He currently attends a special needs school where he has fabulous teachers and support and continues to make positive strides. I believe the Afinitor has helped him come out of the medical haze he was in and is allowing him to move forward with his development. We have noticed the biggest change in him in the last two years since starting Afinitor. He is making intentional eye contact, attempting to repeat new words, initiating play, self feeding, and demonstrating appropriate responses when asked to do simple tasks.

We often hear people comment and ask how we do it. There are definitely challenges to raising Cole, but he was our first child and we don’t know any different. In our minds, this is normal. We also have a three-year-old daughter, Lauren. Brian and I were tested and we do not have the TS gene. Lauren does not exhibit any characteristics of TS so we decided not to have her tested. Our lives are full of doctors’ appointments, therapy sessions, sleepless nights, stress, worry and wonder. Cole has closed the gap on his physical challenges (walking) and now we struggle with behavioral (biting and scratching) and emotional issues. In spite of these challenges, Cole is a lovable, happy, determined 6 ½ year old little boy who loves to snuggle, sing (in his own way), spin balls, ride his bike, swing and run around the backyard. He is on three different seizures meds and is seizure free. It is difficult to look too far in to the future because we never know what will happen, but I can say that things are starting to calm down and feel a little normal.

Cole’s care continues to be managed locally and with the Cincinnati TS Clinic. We are very fortunate that Brian’s and my family live close and are willing to help with whatever we need. We definitely couldn’t do this alone. Cole is such a joy and we are very blessed to be his parents.

Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

The Story of Stacia and the Realization of a Dream

May 1, 2013 Rebecca Gaunt 25 Comments

By guest blogger Susan McBrine

Originally from California but retiring to Oregon

Day 1 of Blogging for TSC Awareness Month

My first child of four was born in 1971 . She lived until 2003, 32 short years. She was a joy, a beautiful baby , and I was a young 23-year-old teacher.When she was about eight months, she started crying for no reason. Then she seemed to stop smiling and rolling over, and later she started jerking her head down in a series of movements. Frantic trips to doctors’ offices found nothing wrong. I was an “overly concerned mom,” and ” it was nothing” I was told. The few funny white spots I noticed at three weeks, were also “nothing,” and the fact that she didn’t lift her chest or head up from lying on her stomach was “weak shoulder muscles.” Every doctor I saw dismissed my concerns. I wanted to believe it was nothing, but in my gut I knew something was wrong! Moms always do!

Finally, one day, she had eight separate instances of jerking her head and body in a series. I was alone with her and decided I was not going to take no for an answer any more. I drove to the emergency room and, probably hysterically, told the doctor there that I wasn’t leaving until someone told me what was wrong with my baby! Weirdly enough, the emergency room doctor was moonlighting from local AFB and had a patient, 12 years old, with TSC. He recognized the white spots and my description of the infantile spasms she was having.

He bluntly told me she had TSC and would be handicapped… Would not walk or talk and not live if her seizures weren’t controlled. I cried all the way home.

My world stopped! Life as I knew it changed forever. He turned out to be right about one thing. It was TSC! And after finally seeing a pediatric neurologist at Loma Linda Hospital who confirmed it, (MRI was not yet developed until two years later), and hospitalizing her for invasive brain tests, we had to accept her diagnosis and the gloomy prognosis they gave us.

I was told so many things that proved to be wrong. How rare it was, life expectancy, IQ expectancy, etc. And that there was no definitive genetic or diagnostic test available. And that really there was not one damn answer to any question. Now I know to question, to not believe predictions, to do my research, to develop a tough skin, and to be assertive. Doctors aren’t God. But she taught me all that in time. I took her home, loved her and wondered how I would ever survive her predicted, imminent death, as we struggled to control her seizures, first with meds, and then with ATCH shots. Welcome to the world of medication, seizures, hospitalizations, fears, tears, more tears and special education. That was my new reality. I started to research tuberous sclerosis in many libraries, poured over medical journals, medical books, books on retardation, and epilepsy only to discover what was written about TS was minimal (no internet). The disease was considered very rare, and no real research or awareness had occurred in over 100 years since it was named Bourneville’s disease. No wonder doctors didn’t know much about it. Not much was known period!

I was starting to get angry now, and when I read in the American Association of Mental Deficiency book that the life expectancy was 25 years, I knew then that no one really knew diddly squat! My pediatric neurologist was advocating institutionalization and no one had real information. I became empowered with my anger about no answers and no knowledge. I was a teacher, a reader, and yet I couldn’t find answers. Maddening! I refused to believe there was no hope! By now, she was almost two and I was expecting my second child, Tanya, after a geneticist told us Stacia was a random mutation. My older sister told me about preschool programs for special needs kids and about a magazine called Exceptional Parent. I wrote to it, asking for other parents with TS children to contact me. I thought if there were others out there, we could unite and make our voices heard. We could demand research, a genetic test, and treatments. Support could happen! I dreamed it all!

In two weeks I got 15 letters from all over the USA. Three from California. And one from a mom of a 29 -year-old with TS ,who thought she was the only case in the world. Clearly no one had ever tried to find out how many cases there were (again, no internet yet). To make a long story shorter, I found Adrianne Cohen, Verna and Bill Morris, and Debbie Castruita in California.

And ….

We started to meet and plan, write letters, call moms, have meetings and contact doctors. We created a newsletter (run off on a school mimeo machine) and a medical research survey. Adrianne helped us get our first grant, a lawyer friend helped us incorporate as a non-profit and NTSA was born.We knew if we were determined enough we could make a difference. We talked to regional centers, hospitals, child neurologist associations, and put articles in magazines and newspapers. We also hoped for a celebrity to endorse us. We lived and worked on NTSA for years. Then slowly let go and let others take it over when it became a successful reality. Now the Tuberous Sclerosis Alliance!

It spread and now it is international. I no longer have to write letters of hope to other moms from my kitchen.

We have a staff, TSC clinics, a medical advisory board, genetics test, research, a magazine, a bonafide celebrity (Julianne Moore), fundraising, and chapters all over the world. Tuberous sclerosis is no longer an unheard of disease and there is hope for no mother to go through what I did. It is miraculous really. But we still have the disease TSC…. and we still have heartache and families looking for help and hope. Now we have Facebook, the internet, this blog, and a phone call or email to the TS Alliance for immediate help and hope. My dream has come true.

Along the way I had four children, got a divorce, remarried, became a special education teacher and struggled every day to raise my TSC child, Stacia Diaz, and battle her ever growing list of symptoms. She turned out to be severely involved, mentally about three years old, brain tumors, kidney tumors, sleep , appetite problems, autism, and aggressive behaviors. She was verbal at eight and was able to say I love you (and cuss:). She was funny, happy, and taught me and my other children so much. But she also suffered, and we suffered…

And when I look back on the day she was diagnosed and remember the stages of grief I went through to come to acceptance (to learn to love her for who she was, not who I hoped

she’d be), I remember how it was a long and difficult journey. The grief never really ends. Yet today parents have support!

The end, for her, was the hardest. We watched her die in a hospice, after her second remaining and only kidney was so full of tumors that nothing could be done. She could not tolerate dialysis and a transplant. The heartache never really goes away, and I miss her every day, but I’m glad she’s not suffering anymore. I know today the newer kidney drugs might have saved her. But knowing the TS Alliance is making strides in treating TSC kids gives her life…and her death, meaning. Maybe I was her mom for a reason? No parent should bury a child, but even her death made me a better person. She and TSC taught me many life lessons.

I now have Cll leukemia and am doing very well with my own medical battle. But I know Stacia’s courage, her smile through all of her battles with TSC, and seeing her still smiling when she died gives me courage and allows for no self pity. I just want each mom and dad and individual with TSC to know that, though it isn’t fair to have this disease, you CAN, as one person, make a difference in the fight to cure this disease!!!! We moms who started this organization believed that!

It is a battle we are winning. Things are better. There is hope. There is help. You aren’t alone! And every case of TSC is unique.

I’m so grateful for the work alliance members and staff do daily. I feel so fortunate to see a dream become reality. I hope my story helps someone today who reads it. And I hope Stacia is smiling down on all of us!

Parenting, Tuberous Sclerosis

How I Found Perspective

April 9, 2013 Rebecca Gaunt 5 Comments

My one-year-old son Connor and I were stalked the other day. It happened at Target as I pushed his umbrella stroller through the women’s clothing section. Our stalker darted from clothing rack to clothing rack, unaware that I was watching out of the corner of my eye. I’d estimate that she was about five, and I’m pretty sure the reason she was following us was because she wanted to know what the thing was on Connor’s head. I would have just told her, simply said, “Oh, it’s just a cranial remolding helmet for the plagiocephaly that has occurred in the posterior region of his skull. No biggie.” Okay, that’s not really the way I would say it to a five-year-old, but I felt like I would ruin her fun by acknowledging her presence.

Yes, Connor has a fancy, new, almost $3,000 hat. And that’s minus any bling. You’d think three grand would get you some rhinestones or something. Thus far it has not impeded his favorite activities, which include throwing everything on the floor and turning his bottle upside down and squeezing the nipple to fill his belly button with milk. Or this:

Connor’s physical therapist had brought up the possibility of a helmet many, many months ago when the flattening of his skull was much more extreme. We were able to do a great deal of correction simply by positioning his head, but he was still left with some residual flatness as he neared the age of one, so his neurologist suggested moving forward. I wasn’t thrilled with the idea of a helmet, but accepted it. I made the appointment and took Connor for the fitting. There were pictures and sample helmets around the office. I actually found myself getting a little excited. Having to get the helmet wasn’t ideal, but I couldn’t believe how adorable some of them were. There were tons of designs to choose from, and I narrowed my top two down to one with airplanes and one with soccer balls. Then the orthotist returned and obliterated my adorable vision of Connor with airplanes circling his head. He felt very strongly that the clear plastic helmets were a better choice than the more popular styrofoam lined version that come covered in adorableness. Plastic ones were less likely to chafe the skin, they don’t absorb sweat so they don’t stink, they are easier to clean and you can see any skin irritation that may be occurring. They can also be vented by drilling holes in them. I nodded along in agreement and said things like, “Can’t argue with that.” But in my head I was cursing the stupid practical helmet, that for the same price, comes minus flaming soccer balls. How do you say, “I want the cute one,” after that? But stinky styrofoam? I could wash dishes with the sweat that pours from Connor’s head, so clear plastic it was. That wasn’t the only moment my stomach would drop during the appointment. To be honest, I went in having done no research. I’ve spent the last year reading so much about his genetic condition of tuberous sclerosis complex that I just wasn’t that worried about a helmet. I’d find out the details when I needed to know them. So I was not expecting to hear that he had to wear it 23 hours a day. I also wasn’t excited to hear that while treatment is usually three to six months, since Connor didn’t get his until he was a year old, his treatment would likely be closer to six months than three.

Those were my only negative moments though. Do I love the helmet? Not so much. I hate that it makes his head sweat so much that the effects of a bath are destroyed ten minutes after I put it back on his head. I hate that my adorable child has to wear it 23 hours a day. Oh, he’s still adorable in it mind you, but no parent wants anything to prevent onlookers from having the full experience of perfection that is their child.

I think if the last year had been “normal,” this helmet would really bother me. They’ve become much more common since the “Back to Sleep” campaign to combat SIDS, since putting babies on their backs has caused a huge increase in plagiocephaly (which is far preferable to SIDS, obviously). Nonetheless, I think I’d take it off him every time he left the house or someone came over. But the last year has not been normal. Connor was born with tuberous sclerosis complex, which causes benign tumors to grow in the organs. Currently, only his brain is affected, but we’ve dealt with five weeks in the NICU, seizures, brain surgery, daily administration of several medications, multiple EEGs, MRIs, infantile spasms, gross motor delay and speech delay. He has physical therapy, speech therapy and music therapy. I could care less about a stupid helmet.

I want a life where I care about the helmet. I also want a life where the opthamologist assures me that the occasional crossing of his one eye is not a big deal, but if it gets worse, it can be corrected with glasses, and then I freak out about how I don’t want him to have glasses. But I don’t care about the glasses either. I don’t want to be the mom that impresses the doctor by taking glasses (and helmets) in stride because after everything else, they just don’t matter. “A lot of parents ask if their kids can just have eye surgery instead,” the assistant told me. “They’d rather their kid have surgery than have to wear glasses. I guess TSC really gives you perspective.”

Perspective. I’m drowning in it, whether I like it or not. And it only took me 31 years to find it.

What is it Like Having Tuberous Sclerosis Complex (T.S.C.) (wildflowerwrites.wordpress.com)
Molding Prevention – Newborn – Baby Care (everydayfamily.com)
Torticollis (Tilted Neck) and Plagiocephaly (Mis-shapen head) in Babies (mosaicchildrenstherapy.wordpress.com)

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Living in Atlanta, loving travel and watching my son kick tuberous sclerosis complex's butt.