Tag Archives: ultrasound

She is not tuberous sclerosis. She is my beautiful daughter Estelle.

Second Annual “Blogging for TSC Awareness Month” Day 1

by guest blogger Jennifer Carpenter (Yellowstone National Park, Wyoming)

me and Estelle HalloweenI remember thinking to myself, “What are you talking about?” as I watched the radiologist point to the small white dots on the ultrasound image of my 25-week-old baby. She was saying something about cardiac rhabdo-something and her heart, and I was really just hearing words but not comprehending anything. Then, about 10 minutes later, a woman came in the room and introduced herself as a genetic counselor and handed me an information pamphlet from 1995, (and this was in 2012). I briefly glanced at it and saw the words “mental retardation” and “tumors”. I sat there dumbfounded while she told me that my unborn baby likely had a genetic disease called Tuberous Sclerosis and would have significant disabilities and may not be able to walk or talk. Again, I thought, “what are you talking about? Are you saying my baby will not be normal?”

I got into my car after the appointment and sat there in stunned silence. I picked up the pamphlet and for some reason started reading about the origins of the disease; how it was discovered and what happened to people that had tuberous sclerosis. “Fits” and “convulsions” and “retardation” were the descriptions used early on by doctors to describe these patients. Many of these poor people ended up in mental institutions. I thought, “Will my daughter have to be placed in a mental institution? How will I be able to take care of her? What will happen to her?” Then my cell phone rang. It was the genetics counselor that I had just spoken with. She told me that she was sorry and that while I could not get a late term abortion in California, that Colorado would allow medical terminations up to 27 weeks, if that was something I wanted to consider. Termination? I had been watching my daughter grow in my belly for nearly 7 months, watching her hands and feet take shape, her face and lips develop. How could I end the life of my daughter after all this time spent together? Had others terminated their babies with this diagnosis? Was that the right thing to do, if she was not going to have any quality of life and be completely mentally and physically disabled? Were the doctors certain that she had tuberous sclerosis? All of these questions were swirling around in my head as I drove the 2 hours home that day. Two weeks later, her diagnosis was confirmed through genetic testing. A spontaneous mutation had occurred during her development. This was to be our reality and I had no idea of what that would mean to my life or to hers.

In the end, I knew that I had to continue the journey with my beloved daughter growing inside of me. I became hell bent on understanding the disease and photo-178learning all that I could about what may happen to her. I threw away the 1995 pamphlet and discovered that there’s much more information and treatment options available today than there were in 1995. Our knowledge about the disease has come a long way in 20 years. (And shame on that genetic counselor that gave me such outdated information; they should be the experts on the latest information out there on genetic disorders, even the rare ones).

On the day she was born, I knew that I was going to fight for her. To be her voice and her advocate. I knew that, while I couldn’t change the fact that she has tuberous sclerosis and there is no cure, I could get her the best medical care possible and be aggressive and proactive with her treatments. I got her into a TSC clinic and I immediately enrolled her in research studies to help learn more about the disease and to help find a cure, (and selfishly, to have more doctors track her development and provide early identification of potential issues). It gave me some sense of control over an uncontrollable diagnosis and an unpredictable future. At least I could take comfort in that.

Today, my daughter is a beautiful, smiling 15 month old toddler. She isn’t yet walking or talking, but we are working on it. She may have significant developmental delays and may require special education and assistance, we just don’t know yet. She still has those cardiac rhabdomyomas, but they are not causing any issues and her eyes and kidneys are clear for now. She does have mild epilepsy, which is well controlled with medication. But these days I just try to focus on the person that she is becoming, rather than the diagnosis that she has. She is not tuberous sclerosis. She is my beautiful daughter Estelle, who laughs and hugs and smiles and just got two new teeth.

Estelle 1 year

 

 

Focusing on Today

Day 22 of Guest Blogging for TSC Awareness Month

By guest blogger Cassie McClung  (Houston, Texas)

Avery1My husband and I learned that we were pregnant in the late spring of 2007. Married just two years, we were a bit surprised, but honestly thrilled beyond words. We had a ton of fun preparing for our new addition, even despite the fact that I was so horribly nauseated for the first five months that I lost 12 pounds. Her development, however, was always right on track, and every test and check-up went well. Just a month before her due date, we decided it would be fun to get the new 3-D ultrasound photos that we kept seeing at the doctor’s office. We ended up trying three different times. Every time we went, the baby had her arms up around her face, completely covering every feature. The first time was kind of cute. The second time was a little frustrating. The third time I asked the technician, “Isn’t it a little unusual to have her arms up every time?”

“Yes,” she said, flat out, “I’ve never experienced this before.” I remember my heart went into my throat. Could something be wrong? The doctor dismissed my concern later, telling me not to worry. I tried not to.

The next thing I knew my delivery date was around the corner but the baby was in breach position, so a C-section was scheduled. In late January of 2008, we were blessed with our beautiful daughter Avery. The surgical delivery went well, but within an hour of her birth, I was surrounded by a number of doctors with very serious faces.

They were concerned because it appeared that our precious newborn was having small but frequent seizures while under observation in the nursery. They bombarded me with a million questions at once. “Was she seizing in utero?” is the one that still stands out. WHAT?? What does that feel like? This was my first pregnancy. She kicked a lot, does that count? Were there other signs I should have noticed? I was stunned. Immediately, the doctors sent her away to a bigger hospital with a higher level N.I.C.U. I remember my Avery2delivery doctor turned to me and said, “I’m sorry,” before walking out the door, not to be seen again.

My husband and I were absolutely shocked and terrified.There was no holding, cuddling or bonding.  I tried to recover quickly from surgery, all the while imagining my baby girl across town under the care of who knows who, doing who knows what. Complete and utter torture. This was when I started thinking about the genetic condition that runs in my husband’s family. We were told previously by family members that we should not worry about it…that it was basically no big deal. Then I heard someone at the hospital say it for the first time. TS. Tuberous sclerosis. We hadn’t a clue.

I broke out of the hospital early and rushed to the N.I.C.U. I couldn’t believe how tiny she was, hooked up to so many tubes…all of the nurses knew her name. My Avery. They already knew so much about her. They’d spent so much more time with her than I had. It felt so strange. At first glance, she looked pretty and pink, sleeping peacefully like a typical newborn. And then I saw it. All of a sudden, she puckered her little lips, turned bright red, and her right arm extended straight out. It faded quickly, but there was no mistaking that she was seizing. Nothing could ever have prepared us for what happened next.

We were shown into a large meeting room across the hall. A doctor sat across from me and five or six med students and residents sat next to her. I’ll never understand why they were invited…why they needed to sit and watch this intrinsically personal experience unfold. They never spoke, just watched. The doctor slowly explained to us that Avery had been born with a rare genetic condition called tuberous sclerosis. Benign tumors grew willy nilly in her brain and heart. She had many of these growths in the left side of her brain, which were causing massive abnormalities and resulting in seizures. She also had a few in her heart, but they were not affecting her breathing, and we were told they would eventually disappear. Small victory. The ones in her brain, unfortunately, would not just go away.

Avery3So that’s when Avery’s brain surgeon appeared. Yep, my daughter has a brain surgeon. Surreal. And that’s when we found out that our newborn needed a radical brain surgery that was meant to end her seizures, or she would not survive: a hemispherectomy. The two sides of the brain would be disconnected from each other, and large portions of “bad brain” would be removed from the left side. Before we could even begin to digest this information, the surgeon went on to explain that he had never performed this surgery on a baby less than nine months old, and most of his colleagues had told him he was crazy. But that it was her only chance.

This is the part where I have to pause and breathe. Because more than two years after the fact, I can still feel the residual effects of this man’s words pulsating through my mind and body. I can still close my eyes and remember the breath-stealing sobs I cried as I said goodbye to my week-old daughter and heartbrokenly handed her to the nurse that would take her to the operating room. We waited hours and hours, hardly breathing, wondering if we made the right decision. It was, and Avery did beautifully. Her strength amazed us. It still does! She was in and out of brain surgery three times in her first month of life. She came home after one month and five days in the hospital, eating on her own, cooing and wiggling. The seizures had completely stopped. We had renewed hope, renewed faith. Her future appeared so much brighter.

We were told by the doctors that there was really no way to predict her future as far as cognitive and physical ability; but the upside was that the earlier the surgery, the better– i.e. giving the “normal” side of her brain time to take over tasks that the opposite side can’t handle anymore…and we couldn’t have done it any earlier!

Avery actually needed two more brain surgeries, at three months of age and at five months, before the seizures stopped returning. She continued taking Vigabatrin (Sabril) for the next four years as a back-up, in case they did try to come back. It was the only drug that had ever slowed down her seizures before.

For four years, Avery thoroughly enjoyed a total break from seizures, as did her parents. We were busy attending to her other many needs, like the fact that the surgery had resulted in the left side of her body being extremely weakened (hemiparesis). No one ever mentioned this side effect before surgery. It was then, and is now, our biggest challenge among many. When she was still not sitting up by herself at 18 months and after lots of therapy, we knew we needed a lot more help. We were lucky enough to find an amazing, private special needs preschool that had experience with children just like Avery. They taught her to sit and scoot. They taught her sign language, how to drink with a straw, and how to use a fork and spoon. And they continue to teach her now. I don’t know what we’d do without these amazing teachers that love my daughter for exactly who she is, and not what she lacks.

Sadly, this past year the seizures returned. We were devastated of course, but not surprised. We knew it was a miracle that they stopped for as long as they did. They are under Avery4control again now with new meds: Onfi and Vimpat. She seems a little more tired now, but overall a happier disposition.

Walking is still our biggest goal. The left side of her body just doesn’t want to cooperate! Although still extremely developmentally delayed, her cognitive skills continue improving. No words yet, but lots of sounds. We have three PT’s, two OT’s and two SP sessions every single week, on top of her school “work.” Avery works harder than any kid I know, and she does it with a smile. She has taught us endless lessons about love, grace, and the simple joys in life. Almost two years ago, we were blessed with another sweet girl! A healthy, TS free little sister, who dotes on her older sister.

As many special needs moms have said before me, it’s impossible to focus on the future right now. In order to get there, we have to focus on today. Today she is healthy, happy and working as hard as she possibly can to reach her potential. What that is, no one knows, but we will move heaven and earth to get her there.

Please check out Cassie’s blog at www.abubslifeblog.blogspot.com

And now a word from another mother…..

I’m a guest blogger over at Captain Jacktastic today!

you don't know Jack

We are still in May
And that means

We are still in TUBEROUS SCLEROSIS AWARENESS MONTH!!

I asked my internet friend and mother of Connor– an adorable, sweet boy who also has TSC – to tell HER story.
Here she tells us about the diagnosis, and her journey…..

Please be sure to check out her son’s Facebook page here, and her blog here.

 

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I worried about so many things when I was pregnant. I researched the best prenatal vitamins (didn’t find much conclusive). I decided I would not have the occasional glass of wine until I was out of the first trimester, which turned into the second trimester, which turned into after birth. At most I had a sip or two at a wedding and indulged in an O’Douls. My doctor talked me into a flu shot, and then I spent the next two nights…

View original post 1,033 more words

Love For Lani

Day 20 of Guest Blogging for TSC Awareness

By guest blogger Kimberly Clisbee  (Los Angeles, California)


childrens hospital 020
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 childrens hospital 042problems. 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.

surgery 2011 022We 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 just006 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

Humor Gets Us Through the TSC Battlefield

Day 16 of Guest Blogging for TSC Awareness

By guest blogger Renee Seiling  (Westbury, New York)

tsc walkMy 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 intubatedmoved 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 thanksgiving at columbia presbyterianeyes 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 familywe 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

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

Day 13 of Guest Blogging for TSC Awareness Month

By guest blogger Alison Walsh  (Buckinghamshire, England)

a few hours oldI 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) Theo's new hatand 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.

DSC_0042A 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.DSC_0079

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

Cole’s TSC Diagnosis

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 Coleultrasound 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.

The Strength of Family Through Three Diagnoses

Day 2 of Blogging for TSC Awareness Month

By guest blogger Paula Krischel (Dwight, Illinois)                              

Paula with her husband and three sons, Mason, Joshua and Adin.
Paula with her husband and three sons, Mason, Joshua and Adin.

My story started when I noticed my infant son, who was 11 months old, puking and seizing.  We went to our local hospital, and his pediatrician knew it was more than he could help with, so he sent us to Chicago. That was the first time we met Dr. Huttenlocher and started our long journey with TSC. Never in my wildest dreams could I imagine that I had this disorder for 26 years, and was completely unaware.

My world was falling apart. I became depressed, and my son was having uncontrollable status epileptic seizures. I not only had to learn all I could  about this disease, and the fact we had to live day by day to see how it would affect our boy, I had to learn to accept that I do have this disease and cope with the guilt I felt about giving him this terrible thing! Mason, who is now 17, ended up having global delays; he is severely affected by this disorder, severely autistic, and will never have the ability to live an independent life. We started with therapy at a young age, but did not see much progress for many years.

We were feeling compelled to have another child, feeling Mason needed a sibling to help him learn. We prayed a lot and had Joshua. Joshua is now 14, board scholar, and wants to one day be a geneticist and work in gene therapy. As of now, he shows no signs of having tuberous sclerosis, and he wants to one day find the cure for it.  We have advised him to get genetic testing done when he decides to have a family.

When my Joshua was 10 months old, I found out I was pregnant again. Eight months later I had Adin. I was not as comfortable about this pregnancy because we were planning on stopping at two. We found out through ultrasound, at seven months along in the pregnancy, that he too would have that terrible disease called tuberous sclerosis.  We did a lot of praying, and even though he is autistic and has global delays, he is a ray of sunshine who can brighten anyone’s day.  He is considered mild/moderately affected by this disease.  He is able to communicate with us, but his older brother is very limited in his speech. Even though he started out with infantile spasms at three months, we have been able to keep his seizures under control fairly well for 13 years. He did have a breakthrough grand mal once, when going through a growth spurt. He has been under control again since 2009.

We have spent countless minutes with doctors, tests, speech therapy, occupational therapy, music therapy, physical therapy, behavioral planning, making safety plans for at school and home, and the list goes on.

Now our latest scare is me.  Recently I found out my tuberous sclerosis is wreaking havoc in both of my kidneys. I get to start the new medicine Afinitor to see if we can save my cyst-filled kidneys from getting any worse.  Both of my boys are on it as well for SEGA brain tumors. This is the first time I have been seriously concerned about my own health.  I am the main caregiver of my boys because my husband is a very hard-working plumber, who works diligently so we can pay for all the expenses this disorder accrues. There never seems to be a very long break of good health in our family, but because of this disorder, we are stronger, more loving, and cherish all milestones that we conquer! For that I am thankful to TSC. Even though our  life is crazy, and the stress seems to pile up constantly, I would not change my life for one second…and continue to look forward to the future!!!

Check out her son’s post here.

So what is this thing that has changed our lives?

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Has someone ever pointed out a new car model to you that you’d never seen before and suddenly you saw it everywhere you went? That’s kind of how I feel about sick children. Now that we have to contend with Connor’s health issues, I feel like everywhere I look I see people with sick kids. It’s a cruel, messed up world if the countless prayer pages for children on Facebook are any indication. Not to mention the time I’ve spent in hospitals seeing other people’s children wheeled around with tubes sticking out of them or minus their hair. Sometimes I think if I’d had this awareness before I got pregnant, I never would have had a kid at all. But now that he’s here, I wouldn’t give him up for anything. I just hope there really is something better waiting for us all in the end, or I’m going to be really ticked.

So what is TSC? Tuberous sclerosis complex is a rare multi-system disease that can cause benign tumors to grow in various organs including the brain, heart, lungs, kidneys, eyes, and skin. It CAN cause retardation or learning disabilities, autism, seizures, behavior issues, OCD, ADHD, kidney issues, lung problems and skin lesions. But every individual’s course with TSC is different. There is a full range of the severely afflicted that need constant care to those who are so mildly affected they may not even know they have it until they have a child who presents more severely.

I’ve heard many describe it as walking through a minefield. It’s a pretty apt description. We basically have a long list of things that MIGHT happen. Or they might not. Seizures. Check. Been there, done that. He started having complex partials the day he was born. Although I’m thrilled to say we haven’t seen any since surgery and none were on his most recent EEG. We are currently contending with infantile spasms, a very rare form of epilepsy seen in children, although more frequent in TSC. He’s been on Sabril for about a month now which has helped considerably, but he still has 1-2 breakthrough clusters a day which are much, much milder than what he was having. These are scary though because even though he will eventually outgrow them, they have potential to be extremely damaging and cause regression. Fortunately we’ve seen none of that and he continues to progress. We’re still working with the neurologist to get these under control. I’ll go into these more in a separate entry.

But that TSC minefield I mentioned? It means that even though the spasms will eventually go away, and even though the surgery was successful, there is no guarantee for the future. Some people’s seizures go away for good, some go 2, 10, 20 years before it happens again.

Currently we’re lucky (lucky in the most screwed up sense of the word) because we’re only dealing with brain involvement. His cardiac rhabdomyoma we saw on the ultrasound cleared up by three months old. They told us it would happen by the time he was in his early teens, so we like to think that it happened so quickly is a good sign. I just wish all the organs worked that way.

His kidney and eye scans at birth came back clear. Both have been checked again in the last month and remain clear. Lung involvement is rarer in males (thank God for small favors), but can be very problematic for females (Google LAM). He also doesn’t show any signs on his skin. The eyes may show signs of TSC, but rarely affect vision (the boy will have glasses anyway thanks to his parents). But for the rest of his life he will require annual MRIs of the brain and kidney scans so that if there are any life threatening growths, they can be treated immediately with some of the amazing new medications that have come about in the last decade for TSC or by surgical intervention.

But what is causing this? Two genes have been identified so far as being involved in tuberous sclerosis. Mutation of chromosome 9, which regulates the protein hamartin, results in a diagnosis of TSC1. Mutation of chromosome 16, which regulates the growth of tuberin, results in a diagnosis of TSC2. These proteins are growth supressors in cells, and the chromosomal damage results in the growth of the tumors seen in TSC. Connor has TSC2.

Why does he have it? After meeting with a genetic counselor after his birth, the thought was that he is most likely a case of spontaneous mutation, as are the majority of cases. There was nothing in our family histories to indicate that it has been passed down. That being said, unless Chris and I undergo genetic testing, we can’t be 100 percent sure neither of us has a mild case of it. Indeed, one of us COULD be a spontaneous mutation and passed it on to him. It is a dominant gene, so if you have it, your children have a 50 percent chance of inheriting it. The degree to which the parent is affected doesn’t foreshadow the degree to which a child will be. We don’t currently plan to have any more children, so we probably won’t be tested. Chris has no desire to know, and although I’m curious, I don’t know how I would handle that information. It sure makes you analyze yourself, though. Is TSC why I’ve had anxiety since elementary school? It this why Chris makes the bed military style and is constantly angling everything in the house just so? At any rate, I’m probably forever cursed to wonder if I could have done something different. I know I didn’t DO something wrong, but the questions are there. What if I had spent the last few years eating organic? Did I expose myself to something environmental somewhere along the way?

We simply don’t know what lies ahead, so I focus on this sentence from the Mayo Clinic website: “With appropriate treatment, however, many people who have tuberous sclerosis lead full, productive lives.”

If you would like to read even more in depth about TSC, check out http://www.ninds.nih.gov/disorders/tuberous_sclerosis/detail_tuberous_sclerosis.htm

http://www.mayoclinic.com/health/tuberous-sclerosis/DS01032

http://tsalliance.org/index.aspx

Diagnosis: Tuberous Sclerosis Complex

Connor getting an EEG.

It’s insane to think six and a half months ago I didn’t even know what tuberous sclerosis was. Now it’s something I think about every day. In fact, I never even heard the words tuberous sclerosis until January of 2012 and even then it didn’t mean anything to me.

My husband and I went for our 30 week ultrasound with nothing but anticipation. Pregnancy had been a piece of cake. No morning sickness, or any other issues other than a few weeks of serious fatigue that prompted me to sleep 18 hours a day–so basically reliving my early-mid 20s, minus the drinking. The tech did the initial checkup and then the doctor came in. He expressed concern about an irregularity of the heart wall, but not in a panicked, this is an emergency manner. However, he did set us up to have another ultrasound the next day with a cardiac specialist. The appointment did NOT go well.

Naturally we were nervous to hear there was something strange, even if the doctor had said there was no problem with the functioning of the heart. But the next day’s appointment rattled us to the core. First, it was a new machine and nobody seemed particularly adept at using it. We felt like the guinea pigs while two middle schoolers triend to navigate a new gaming system for an hour with no feedback or information offered to us whatsoever. Had this been a routine appointment, I probably would have been laid back about it, but I was waiting to hear what might be wrong with the heart, so I was definitely not feeling very laid back. Medical vocabulary like rhabdomyoma, calcium deposits, and tuberous sclerosis were thrown out as vague possibilities. Nothing concrete enough to lead us in a particular direction. And when we asked what this meant for the baby, they weren’t quite so comforting as the perinatologist. We couldn’t even get a straight answer on if he’d be born. In the meantime, there were attempts to continue light, casual doctor/patient conversation that we were no longer interested in. When I started to cry, I was handed a box of tissues and they left the room, telling us to take as much time as we needed. We got the hell out of there.

Within a couple days we managed to get the perinatologist back on the phone and he quickly soothed our fears. Yes, the baby would be born, and the heart was functioning perfectly in spite of this oddity. I was to come back every couple weeks until the birth. As time went on, the ultrasounds showed it wasn’t growing and continued to have no effect on the heart. We relaxed. They induced me at 39.5 weeks as a precaution simply to be sure he could be checked out by the cardio team. Everything went fine. Then a few hours later, the seizures started.

We hadn’t looked much into tuberous sclerosis because it was mentioned in such a remote, vague way. But we did see it was rare. Estimates are 1 in 6,000 or about a million people world wide. So there was no way. A million people in the world? That was a fraction of the population of our city of residence, Atlanta. That was obviously not it.

Except it was.

I’m going to continue to recount our experiences up to now in the hopes that maybe this blog helps someone going through this. And perhaps in some small way to help draw attention to a disease that so few have heard of. The whole blog won’t necessarily be all about TSC because we are more than that, but obviously that will be a part of it. And it’s important that people hear about this genetic disorder because the research done to cure it can help people afflicted with many things, such as autism, obesity, certain cancers, ADHD, depression and tumors, even if they don’t have TSC because they share similar neural pathways and other sciency stuff that frankly I don’t get because I was never very adept at math and science.