Tag Archives: MRI

Boston TSC Study, Tuberous Sclerosis, Uncategorized

The scores are in…

August 28, 2013 Rebecca Gaunt 2 Comments

Just received the results from Boston on his Mullen scores from the TSC study (nope, still haven’t heard about his MRI). Definitely a lot happier with the scores this time than last time.

Age: 17 months

Mullen Scale	Descriptive Category	Age Equivalent
Gross Motor	Very Low	9 months
Visual Reception	Below Average	14 months
Fine Motor	Very Low	14 months
Receptive Language	Very Low	10 months
Expressive Language	Very Low	9 months

Obviously I wish there were no delays, but I’m pretty excited to see 14 months in two categories. That’s not too shabby considering all he’s been through. And I can’t say the low ones are a big surprise. He just started to crawl and he doesn’t have any words yet. But he is continually progressing and I believe he will get there, especially in motor skills. He’s pulling himself up on furniture constantly, and while he can’t quite get to standing, he is trying.

I’ve sent the results off to his Early Intervention team to get their thoughts…

Now if I could just get the MRI results.

Boston TSC Study, Travel, Tuberous Sclerosis

Which is the bigger scam? Appraisals or the TSA?

August 27, 2013 Rebecca Gaunt 4 Comments

The last couple weeks have been rather exhausting in good ways and bad ways. Good = trip to Boston. Bad = corrupt housing market.

Might I start by saying I hate property appraisers? I think I said that in my last post. It is still true. Despite the fact the houses by the same builder with the same floor plan have recently sold around the $200k within walking distance, our appraisal at $185,000, $20k below the agreed upon sale price will stand. We were already taking a hit from what was paid. And despite our complete makeover of the lawn from dirt to gorgeous grass, the addition of granite in the bathrooms, a thorough de-brassing of fixtures, a new water heater and a new roof, it’s still worth $25k less than it was appraised for in 2007. So dear, dear appraisers, yes, we all know you were oh so shady in your role (I say role, as banks and irresponsible buyers should not go blameless) in helping destroy our economy, and I’m so glad that you can continue to screw up people’s lives by swinging to other end of the spectrum and undervaluing everyone’s properties, as you once over valued them to line your pockets. I despise you and your industry. You have undervalued our house and taken money from us that should be going towards my child’s needs. I wish upon you a lousy life.

Yes, we are going ahead with the move. It will hurt in the short term, but is best for the long-term. We had to heap much fertilizer on our money tree in the backyard to make it possible. Closing is in two weeks.

In brighter news, Connor is crawling like a fiend. He’s truly my child as he keeps making a move for the kitchen island wine rack and tries to steal one of my bottles. I couldn’t be prouder. He also knows that I have toys to sell stashed in the laundry room, and despite the nine kajillion toys strewn about the house, he wants the ones in the laundry room. Emma has nearly lost her tail twice in his deadly jaws. I’m desperately trying to make him understand that bathrooms are grody mcnasty and that he should not follow us in there.

We went to Boston last week for his third visit as part of the TSC study. He also had his annual MRI at Boston Children’s. Everything went smoothly, and I can see why Michael Jackson was hooked on propofol after an extensive period of time trying to wake Connor — not in a scary way, he just really wanted to keep sleeping. It’s waaaaaay better than my melatonin. We haven’t gotten the results yet. Hoping for no growth, of course.

Connor’s veins continue to be elusive, proving that it isn’t just Atlanta that can’t get a vein in this kid. He always leaves looking like a retired pin cushion.

We’ve pretty much walked all over Boston at this point, so we just revisited some favorite areas.

We watched Harvard's sailing practice on the Charles River. — We watched Harvard’s sailing practice on the Charles River.

We visited the only Curious George Store in the world at Harvard Square.

Connor demonstrated that high chairs work best when you sit backward.

I love going to Boston. I actually think I could live there in spite of the cold. The only negative aspect of the trip was the idiotic TSA. I’ve actually been feeling more kindly toward this waste-of-taxpayer-money organization as having a kid has miraculously made flying easier in a way. We get to skip the security line in Atlanta, they do a quick, problem-free scan of his milk, food and meds as they are oversized liquids and we get to board first. I even get to bypass the full body scanner and walk through problem free. But this time, coming home, my sixth flight with Connor, suddenly things change. They pull his diaper bag as usual due to the liquids, but this time, because of them, she tells me one of his parents must submit to a full-body pat down, as well as have their personal bag searched. Chris is already on the bench putting his shoes on, so in complete surprise, I begrudgingly volunteer to do so. Two questions: 1. What the hell does having oversized baby liquids have to do with arbitrarily patting me down and searching my purse? 2. What is the point of letting the parents choose? If we are indeed carrying a bomb, obviously the one who isn’t wired up is going to volunteer. She informs me that if I get all his stuff in 4 oz containers, I can avoid this. Hey pharmacist, I’m gonna need all Connor’s meds in a series of 4 oz bottles, please, and make it snappy! I inform her that I have flown with him six times and this is a first. No response. So apparently bottles of Enfagrow in your bag = right of government agency to stick their hands up your crotch. And they wonder why we don’t thank them for their service to this country. That and the fact that they’ve never stopped an attempted terrorist attack. That’s the job of the other passengers on the plane.

Anyway, our plan to try name brand seizure meds in hopes of better control did not work. We are now weaning off Trileptal and moving on to Onfi. His seizures have been increasing, and though they are short and he recovers quickly, he drops suddenly. He’s face planted on the floor three times now. We have to stop these before he walks. Please let Onfi be the one.

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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

It Affects Us All

May 19, 2013 Rebecca Gaunt 1 Comment

Day 18 of Guest Blogging for TSC Awareness Month

By guest blogger Tina Carver (Eureka, California)

Please check out Tina’s blog at http://captainjacktastic.wordpress.com

Prior to April 2009, all that I knew about Tuberous Sclerosis Complex would fit on the head of an angel dancing on the head of a pin.
In other words:
NOTHING.
Never heard of it. AT ALL.

Once I met Jack, all of that changed.
I became Jack’s stepmom in September of 2010, and shortly thereafter, his birth mother left the area, leaving us with sole custody.

Now, I have to be honest. The hardest part of Jack’s TSC had already happened. The in vitro diagnosis. The debilitating and never ending febrile seizures. The rounds and rounds of various seizure meds. The brain surgery.

That all happened BEFORE.

In the TSC community I feel a bit adrift — I get asked questions about the specifics of his disease — the types of tumors, etc– and I cannot answer them.

My life with TSC is all about moving forward and making Jack’s life the best it can be in the here and now. It is also about dealing with how the disease affects US: myself, my husband, my daughter.

Our life revolves around “what if’s”. Every plan that we have has a back up- “just in case”. We have emergency seizure meds in each of our cars, Jack’s backpack, the home. We plan and plot ANY trip to make sure we are near hospitals. My husband and I get THREE WHOLE hours a week to be adults outside the house. My daughter knows that any school function most likely means only ONE OF US will be there (respite is a harsh mistress). Tuberous Sclerosis may have had its way with Jack, but it also has the rest of us in its grip EVERY. SINGLE. DAY.

But there are days……lovely days like last Sunday when all of us were in the backyard. My daughter running fully clothed through the sprinklers, much to the delight of Jack who had his favorite spot on what he calls the bouncepoline. The sky was clear and sunny. There was laughter from all. And it’s for these moments that we continue on. THAT is what makes it worth it all. We forge ahead because these moments make life worthwhile. These moments balance those tense moments in the ER, the sedation for MRIs, and the uncertainty of the future.

Now, to be honest, how Tuberous Sclerosis has had its way with Jack has NOT been kind-

Febrile seizures have left permanent damage.
There is a thick scar that crosses his scalp from brain surgery.
There are developmental delays. There are physical issues.
There are over 30 tumors in his brain.

But over the past few years we have seen progress.
We have speech and communication.
We have staid the growth of the tumors.
We have found the right cocktail of meds to keep away the seizures.
And Jackson the boy is blossoming……

SO what else can I say about this disease that I have come to know and loathe?
That it took away one boy and left us another.
One that I love just the same.

Jackson hanging out in Darrah's room. — Jackson hanging out in Darrah’s room.

JACKSON The Poem

In my dreams

I constantly see

You

Your smile so bright

and beautiful

A mischievous grin

to match the

glint in those

bright blue

Eyes

You run

Untroubled

Carefree

with an easy

and natural

gait.

Laughter unfettered

Musical

And there are

no tumors

no damage

Or delays.

There is only a boy

who is

Not You.

Trends in the Prevalence of Tuberous Sclerosis Complex Manifestations: An Epidemiological Study of 166 Japanese Patients (plosone.org)
Family’s anguish over rare disorder (yorkpress.co.uk)

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

An Eleven-Year-Old Takes on Capitol Hill

May 15, 2013 Rebecca Gaunt Leave a comment

Day 15 of Guest Blogging for TSC Awareness Month

By guest blogger Jennifer Silva (Prince George, Virginia)

Most people never forget the day something tragic happens to their child. Little did we know September 19, 2002 would put us on a never ending journey. What started out as a normal morning that day, ended in exhausting weeks and months of the unknown. My first child Jared was born five weeks premature, after complications of preeclampsia. Even though he made his debut into the world much earlier than anticipated, he was the image of health. He weighed 5 lbs and 15 ounces, with healthy lungs and heart. He incurred a small bout with jaundice, but other than that everything was seemingly great.

On September 19, 2002, Jared was approaching 9 months old. He played that morning, with no warning signs of what was about to happen. Shortly after he laid down for his nap, I heard a very odd sound coming from his room. After a few moments, I went to see what the sound was. I was in total shock at the sight in front of me. Jared was in a full seizure, jerking about in his crib, and foaming from his mouth. His dad was home at the time and called 911. It seemed like an eternity, before the ambulance arrived. That seizure lasted more than ten minutes. Once at the hospital, doctors weren’t sure what had caused his seizure. His cat scan revealed what was thought to be blood. He was transferred to a larger hospital, into a PICU unit.

An MRI was done and we were told he had bleeding on his brain. After several days in the PICU, hospital social workers started questioning us as to what had happened to Jared. Jared moved down to a step down unit, and things started to get weird. We were being treated very oddly. Jared had been at the hospital for a week, when the local sherriffs’ department showed up and said that someone at the hospital had reported a possible shaken baby case on us. We were in total shock. Within days we were in court being asked by a judge if this had occurred. Of course it hadn’t. They put the poor child through a whole body x-ray to see if any broken bones had healed over from past injuries. The case was considered unfounded, and we left the hospital with Jared after close to two weeks has passed. The watchful eye of social services followed.

Months went by and Jared did well on his anti-seizure meds. An MRI follow up was done, and to our surprise, the blood was still there after months. That’s when they knew there had been a terrible mistake. Jared had a tuber, not blood. A little more time went on, and at Jared’s next visit, it was discovered that Jared had odd white spots on his back under a wood’s light. That’s when the words tuberous sclerosis came up. Of course, back then there really wasn’t that much info out on the web, and most of it was very traumatic information.

Jared went on about his childhood under the watch of his neurologist. He did very well, with few seizures and few tubers. As he got older things did change some. The skin abnormalities have come out (angiofibromas, café au lait, depigmentation, some forehead plaques), and some learning problems have been noticed. Jared did so well on the seizure side of things; he went for years without an MRI. Everything changed on December 26, 2011. Jared started having seizures and was rushed by ambulance to the hospital because he wasn’t breathing. It was determined that he had strep throat and had outgrown his seizure med levels. An MRI was done, and they found a SEGA. The SEGA didn’t cause the seizure, but it most likely wouldn’t have been known about, if not for the seizure, until it caused problems.

Initially he was just watched, but then we saw a pediatric oncologist who ordered a new MRI. It had been eight months since the seizure sets, and Jared had three SEGA’s by then. He started afinitor, and as of March 2013, his SEGAs have drastically shrunk. In June he will have a new MRI and go from there. Jared accompanied me to the March on The Hill in 2013. He saw how government works, and was amazed at all of it. We have had several publications about our story recently and I am glad to see TSC getting attention. When I took on Chair of the TS Alliance of Virginia, I knew then that I would have an uphill battle. But with a little effort change can happen. Jared is a typical 11-year-old child now; he has some issues, but we are grateful for all the new advancements in TS world. His father and I divorced years ago and have given Jared a large extended family. Jared is a special child, with lots of family supporting him.

I know one day he will help out others. He helped me stuff and mail out envelopes for our Virginia Educational Meeting in June. He said, “Wouldn’t it be great if all these people showed up to support TS?” The world needs more caring, compassionate 11-year-olds like Jared.

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

It Could Be Something, But It Could Also Be Nothing…

May 13, 2013 Rebecca Gaunt Leave a comment

Day 13 of Guest Blogging for TSC Awareness Month

By guest blogger Alison Walsh (Buckinghamshire, England)

I was about 16 weeks pregnant and had just been to see my cardiologist about my heart murmur, when he mentioned having the baby’s heart scanned just in case he had a valve defect like mine. I replied that it would be really cool to see a baby’s heart scan as I had never seen one before, and I was never offered a scan with any of my other children. As I wanted to see a baby’s echocardiogram, I mentioned the heart scan to my baby consultant and she said that it sounded like a good idea for just in case, so she sent off for an appointment for me.

I received a phone call from Oxford University Hospital a week later to confirm an appointment. I got a bit nervous for a few days because I thought the heart scan would be at my local hospital. My partner gave me a lot of reassurance that my other children were fine so this baby should be too. At 18 weeks pregnant we were driving to Oxford at 7 am. I was nervous but excited all the way there.

The prenatal heart doctor took her time to scan me, being quite quiet throughout the scan. She just explained and showed us the heart chambers on the screen. After the scan she told us that she may have seen something that she wanted to keep an eye on, but for us to try not to worry as it could be something, but it could also be nothing. She asked us to return in four weeks just so she could be sure.

At the next scan in Oxford, the prenatal doctor brought in a colleague to help her have a look. It was then that she told us that our unborn son had rhabdomyomas (heart tumours) and she was worried about three of the tumours as they were quite large. Also, one of the tumours was positioned next to his heart valve. The doctor also told us that my baby had a very high chance of having TSC, and the worst case scenario was that he would die before being born.

I went home and cried for a few days, when I suddenly thought that my other children could have TS, and if they did, they were all fine. So my baby would be, too. This thought reassured me until we returned back to the hospital two weeks later and the two doctors were waiting in the scan room for us. They scanned the baby’s heart, then told us that one of the tumours they were worried about was moving in and out of the valve with the blood flow. If the tumour got any fatter, it would get stuck in the valve and stop the flow of blood, resulting in the baby’s death. She made us another appointment and said, “Hopefully, if everything is okay with the baby, I will see you in two weeks.” She gave us a sad smile goodbye.

Well, my heart just broke. I started grieving for my baby as I waited for him to die inside me. I couldn’t sleep or eat for a week. All I did was cry, and when I stopped crying, and he stopped kicking, I cried even more thinking that was the last kick that I would feel him give me. It was the worst two weeks of my life.

Baby Theo was oblivious to my suffering, and he was growing well. Two weeks later, we went back to the hospital where the doctor said she was so glad to see us back, and she had been worrying about us. The tumour was growing longer instead of fatter, and they were still worried about it interfering with Theo’s blood flow as the tumour was causing a lot of pressure in his heart.

I was told that Oxford University Hospital head cardiologists and Southampton head cardiologists had been having a meeting about Baby Theo, and if he survived until I was 30 weeks pregnant, they would give me a c-section and operate straight away.

A few hospital appointments later the cardiologists had another meeting. They decided that as the pressure in his heart was high but stable, and as he was really too small to operate on, they would only do it as a last resort for him. We were told that if he survived until I was 34 weeks pregnant they would take him out then. But I had to have fetal echo appointments every week from 30 weeks pregnant. I was also told to prepare and starve myself before each appointment as I might need an emergency c-section if the pressure in his heart got any worse or if the tumour grew fatter.

The pressure in Theo’s heart grew slowly and steadily but didn’t seem to affect his growth in any way. Theo shocked the doctors again by surviving and thriving. We were told his heart would not take the pressure of birth, so he would be delivered by c-section at 37 weeks all being well. He would have to be in a special care baby unit for three weeks at least as his heart wouldn’t work properly after birth due to all the tumours, but they also explained that the tumours would regress after birth.

After Theo’s delivery he only had to stay in SCBU for three days because his heart was working normally and he was feeding well.

Theo was talked about by so many heart specialists that they all came to visit him in SCBU just to see for themselves how well he was doing. They couldn’t believe it, and one of the doctors even wrote a presentation on him, as they said his heart should not have really coped with all the tumours and their postitioning.

Theo was allowed home on the condition that if he looked strange or blue that we would phone an ambulance straight away, and that he was to go back for appointments every week.

Theo continued to thrive at home. We received confirmation that Theo did have TSC2 when he was three weeks old as they had taken blood from his cord at delivery.

I was ecstatic that Theo was still with me. He was a fighter and had survived against all the odds.

Theo did worry us for a while as he didn’t smile until he was ten weeks old and didn’t give a full on belly laugh until he was eight months old. I am very pleased to say that Theo is growing well, and though he gets a bit behind on his development, he then seems to catch up really quickly.

Theo has ash leaf spots on his legs and belly and sometimes stares off into space, which could be absence seizures. I try to catch them on camera to show the doctors, which is just hilarious as they only last 30 seconds, and by the time I get my camera, he has snapped out of it. He has had an MRI and we know he has multiple tumours in his brain and still some in his heart, but he is the happiest baby around. He’s always smiling. He is 10 months old now and he loves to cruise around the furniture, dribbling on everything as he goes. I think he would walk all day if I let him.

He loves his sleep and has slept through the night since he was a month old. He loves Mickey Mouse and he waves his arms and legs every time he sees Mickey on the television.

We live in hope that TS has affected Theo enough now and won’t affect him anymore.

Love you lots my gorgeous little boy! x x

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

Not Alone

May 9, 2013 Rebecca Gaunt 2 Comments

Guest Blogging for TSC Awareness Day 9

By guest blogger Jennifer Simmans (Dallas-Fort Worth, Texas)

On a lovely day in the spring of 2009, my husband and I walked through the doors of the Tuberous Sclerosis Clinic at Cincinnati Children’s Hospital. I was, on two previous occasions, accompanied by my mom, but this was the first time for my husband to come with me since our wedding in 2008. After checking in, we went to the waiting area where I saw the usual scene: a handful of patients, mostly children, accompanied by their parents. Some were in wheelchairs, some were sprawled out on the floor playing with toys, and the moms looked on with such evident love and care. We found some empty chairs in a corner of the room, and as we were sitting down, I noticed a woman sitting alone. She wore a red shirt, black shorts, and had the familiar signs of someone with TSC. I have two noticeable patches of angiofibromas on my face; this woman’s face was covered. I struggled to peel my eyes away from her, not because of the angiofibromas, but because of the sadness that pierced my heart upon seeing her. This adult woman was all alone at the clinic. No loved ones accompanying her, no child in attendance, no spouse there to hold her hand. Mixed with the sadness was an overwhelming sense of gratitude as the thought struck me – I’m not alone in this. While I so often dwell on the negative aspects of life with tuberous sclerosis, I take heart knowing that with each step, with each turn of the page in this story, I’m not alone.

~~~

My mom describes the spot on my face as a red, vein-like mark when I was born that developed into a strawberry-shaped patch by the time I was in grade school. The area on my neckline developed over time until I was in junior high, and the shagreen patch on my back started appearing and spreading over the course of those same years. My childhood involved occasional treks from doctor to doctor trying to get at least some idea of what these things were on my skin. Anytime we would visit yet another doctor, the response was either a blank stare or the man awkwardly fumbling through his ancient medical tome. Each visit ended the same, with my mom sighing and us returning to the parking lot with questions still unanswered.

Fast forward a few years to my early twenties. I graduated from college in 2004, and spent the next year deciding on what the next phase of life would entail. After weighing different possibilities, I opted to pursue a masters degree in counseling. My then-boyfriend-now-husband and I individually decided to apply to the Southern Baptist Theological Seminary in Louisville, KY, where he would receive a Master of Divinity in pastoral studies and I would work towards my Master of Arts in counseling. Just prior to our move in the summer of 2005, my mom informed me of a new dermatologist she was seeing and suggested that I make one last attempt to see if he might shed some light on my skin abnormalities. She accompanied me to the doctor’s office, and the difference from previous doctor visits was remarkable. Within ten minutes of him looking at my skin and fingernails (a couple of my nails have visible tubers underneath), he looked me straight in the eye and said, “I’m pretty sure you have tuberous sclerosis, more commonly referred to as TSC or TS.” He then ordered a biopsy of the shagreen patch on my back. Just like that, days later, I had an official diagnosis. The dermatologist didn’t want to overload me with information, but gave me a few pointers and places to begin my personal research. He also recommended lining up a variety of doctors after moving to Louisville to begin the process of having additional tests run. A few months after the move, once I was a settled and had medical insurance in place, I researched dermatologists in the area and was able to get an appointment fairly quickly. The dermatologist I met with confirmed the TSC diagnosis, and ordered scans for my heart and kidneys, as well as an MRI for my brain. Up until this point, all had assured me that these tests are protocol. I was given the assurance that medical concerns were pretty minimal as I was in the small percentage of individuals whose manifestations of tuberous sclerosis are limited to the skin abnormalities. The scans of my kidneys, heart, and lungs came back clear, so the doctor assured me that I could wait several years until being tested again since there weren’t any concerns.

The same dermatologist called me one evening after two weeks of waiting for the results of the MRI. I was scheduled to be in a night class on campus, but all plans for the evening came to a halt when the phone rang. I could hear the hesitation in her voice. The radiologist found a tuber on my brain roughly 5mm in size. While the spot was not of extremely considerable size in and of itself, the location was of concern. There was also the question of whether or not it would continue to grow since this was my first MRI at 23 years of age. The dermatologist then strongly advised that I get in touch with a neurologist, and also instructed me to have an MRI performed every six months to a year for the next three years so that we could detect whether or not the tuber would continue to grow. The weight and uncertainty of such news was paralyzing. What if something goes undetected? What if I develop additional tubers elsewhere? The questions came to mind like rapid fire as I sat in shock on the couch in my living room. I will never forget the quiet that came over my apartment after hanging up the phone. It was as if the air in the room had escaped and I couldn’t move. My boyfriend came over and spent the reminder of the evening at my side. I don’t recall having ever wept as much as I did that night. However, once the tears finally ceased, I again recall the stillness. Only this time the stillness was accompanied with a sense of peace. Not only did I have the comfort of my boyfriend’s presence there with me, but I knew in that moment that I was in God’s care. All I had ever known and been taught came into focus as I was reminded that God knew this day before it happened, that I was His child, and that I could rest in His care. That assurance—as frail as it seemed in the moment—was the only thing that prevented me from falling over the cliff into despair.

Over the course of the next year, I was lined up with a neurologist in Louisville who referred me to Dr. Franz at the Tuberous Sclerosis Clinic. In 2006 and 2007, my mom and I took the short day trip to Cincinnati and met with the clinic staff. The more I met with the team of doctors there, the more helpful information and encouragement I received. While there were still very real concerns with my diagnosis, I had a bit of assurance knowing that my case was so minor. More and more research showed that many patients have far worse ordeals to face in contrast to my own struggles. The additional MRIs indicated that the tuber in my brain had not grown, therefore, doctors felt it safe to wait several years until ordering the next scan.

Two short months after marrying my husband in 2008, I had a malignant tumor removed from a salivary gland in my mouth. While the link to TSC wasn’t certain, the nurse at the Tuberous Sclerosis Clinic said there was still the likelihood that it was related. My husband and I were deeply relieved when we learned that the tumor was fully encapsulated, and further tests or treatment weren’t necessary.

I made the decision in 2011 to have a CO2 laser procedure performed to try and remove some of the angiofibromas from my face. After having the procedure once in 2011 and again in 2012, I can’t say that much has changed. The dermatologist who performed the laser procedure informed of the possibility that there wouldn’t be long-term results, and she was right to warn me in advance. Skin tends to have a mind of its own, and the tissue is going to respond to a laser as it will. While I was quite disappointed with the lack of results, I can at least say that I tried. There is also always the possibility of trying a different doctor or researching whether or not a different procedure would be a possibility.

We moved back to Texas this past January, and with that will likely come finding new doctors and perhaps scheduling the next round of scans in the near future. I am amazed that over seven years have passed since this journey first began!

~~~

The greatest blessing through this journey has been my husband. I recall sitting with him shortly after receiving the news of those first MRI results, and him feeling utterly powerless to fix me. He wanted me whole, free from sickness and complications, and he was powerless to change the situation. And yet, he stayed. When I told him soon after that he was free of this burden, under no obligation stay with me long-term, he chose to stay. We entered into marriage knowing the difficulties we would face. He chose to marry me knowing that our “normal” would look very different from everyone else we knew. We had to have conversations early on that many couples we know never have to face. We aren’t asking the question “Can we have kids?” but instead “Should we have kids?” My husband is adopted, and the relationship he has with his parents encourages my heart. They chose to take him in as a newborn orphan, giving him a home and name, which displays so beautifully the love that God bestows on His children. Even before my diagnosis, we knew adoption would be on the table if we ever got married. While we long for children, and while I have days when I long for that experience of carrying a child, we know that God has the plans for our family in His hands. Any child we welcome into our home will be a gift, and at this point in our life together, we do feel compelled to pursue adoption.

God has blessed me in ways that often move me to a humble gratitude. Nothing I have been given have I deserved. I am surrounded by family and friends who support and encourage, most of whom respect our decisions pertaining to how we will eventually grow our family. And I quite honestly don’t deserve my husband. He loves me despite my imperfections, despite the ongoing, open-ended questions related to TSC. He knew our family would likely look different than that of others, and he married me in spite of all of that. My husband is a daily reminder that I am never alone. I cannot be driven to despair over TSC because of the Hope that supersedes all pain and sickness that come with this life.

“But we have this treasure in jars of clay, to show that the surpassing power belongs to God and not to us. We are afflicted in every way, but not crushed; perplexed, but not driven to despair; persecuted, but not forsaken; struck down, but not destroyed; always carrying in the body the death of Jesus, so that the life of Jesus may also be manifested in our bodies. . . .Though our outer nature is wasting away, our inner nature is being renewed day by day. For this slight momentary affliction is preparing for us an eternal weight of glory beyond all comparison, as we look not to the things that are seen but to the things that are unseen. For the things that are seen are transient, but the things that are unseen are eternal.” ~2 Corinthians 4:7-18

For those of you reading this who have the support of loved ones around you—Praise God for that, and praise Him that you have such tangible evidence of His care and comfort.

For those of you who—like the woman in the waiting room at the TS Clinic—are alone in this, I pray for you. I pray that you will come to know the hope and comfort from the God who will never leave you alone~

It Was More Than Just “Side Effects” (mixedupmommy.com)
Walkers seek to pick up pace in battle against disorder (readingeagle.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)

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