Our Journey with Tuberous Sclerosis Complex

Growing up I knew I had Tuberous Sclerosis.....did I REALLY understand the depth of that? No.

Here is a link to the TSC Alliance website that explains what TSC is in general http://www.tsalliance.org/pages.aspx?content=2

I was never truly interested in finding out what this genetic disorder was all about until Jace was born and we found the big hypopigmentation on his butt (he will never get away with mooning anyone that's for sure!) and other small ones all over the rest of his body. He also had the classic Cafe Au Lait spots - these are darker and look like birthmarks.

Before our hospital stay in January there were a few times where Justin and I wondered if Jace was having a seizure - we just thought it was over stimulation or reflux related.

Jace had a few of these odd episodes, usually when I was nursing him or laid him down to change his diaper, where he would almost freeze up and then twist his upper body and arch his back. So we called his pediatrician and we were sent to the Texas Children's Hospital ER.

In the hospital they drew a genetic blood panel from Jace to test for Tuberous Sclerosis since I knew it was in my family they were convinced that was the issue. They also did a CT, MRI, Echo and an EEG. The CT and MRI both showed a tuber in the left frontal lobe of his brain. This may or may not be causing seizures. It was explained to me that you are usually born with the tubers and so your brain usually knows how to function around them and its the subependymal nodules (SEN) that cause more of the issues. The SENs can occur randomly in the early stages of life and even at time start growing where they turn into subependymal giant cell astrocytoma (SEGA) - basically a benign but growing brain tumor. This occurs in 10% of the TSC population. Thankfully in January Jace did not have SENs that they saw.

Getting the electrodes places for his one hour EEG

Deciding what to eat - actually what mommy should eat

(he was still nursing at the time)
Jace was started on a seizure medication, Trileptal, and we were sent home. Never really concerned since he was hitting all his milestones early and continued to develop right along with other babies his age.

Months later he started with the twisting episodes again so his neurologist increased his medication. This increase did not seem to help.

In the midst of getting this sorted out I found out about the Tuberous Sclerosis Clinic in Houston. I thought what a great opportunity to be treated by the best who knows more about this disorder than just the two paragraphs physicians read about in med school!

Once we switched to the neurologist in the TSC clinic we noticed that Jace was not only still dealing with this twisting episodes but now they were coupled with an odd head tilting movement that occurred randomly. We thought maybe it was reflux but video recorded it for the neurologist to see anyway.

When she saw the video they admitted Jace to the hospital right then and there. She was concerned they were drop seizures and we needed to control those before he gets older and they turn into full body drops. 26 inches from the floor isn't far but one day he will be 5 foot + from the floor. They not only looked at the neurological issues but then also the gastrointestinal. We had a 23 hour EEG, MRI, modified barium swallow and a 24 hour Ph Probe done.

After the hospital messed up and gave Jace a smaller dose of his Trileptal we realize it was the meds causing a lot of his issues so they switched to Keppra.

This started off great! Jace was once again laughing at us, playing pat-a-cake, and even signed "more" back to me for the first time!

All that was just a honeymoon.......and a very short one at that!

A week on Keppra and everything started downhill.

Jace began to have episodes where his eyes would roll up (but not like they were rolling into the back of his head) and his head would slightly drop forward. We called them eye rolls since it was more of his eyes deviating up rather than the head dropping.

I started to track his episodes and medication dosages on a GREAT website called https://www.seizuretracker.com/

It is complete free and it makes GREAT easy to read reports to take to the doctors or hospital to demonstrate the event timeline.

After increasing his Keppra to the correct dosage for his weight, plus some, he continued with these head drops. I bugged the neurologist multiple times a week about this and eventually as the head drops progressed I demanded another EEG. These were looking too much like infantile spasms to be easygoing with the treatment. I wanted to know if any seizures were showing up on his EEG or not since the past 2 came back with no seizures. He also never had an episode during these EEGs. Since they had increased to 3-7 a day I KNEW the next EEG would catch one! His neurologist sent in orders for another EEG and the hospital called me to schedule. They told me they did not have an opening until DECEMBER!! I was furious!! I told them that was not acceptable and we needed to be seen like YESTERDAY!! After that I started to search and inquire about other neurologist. It would be like starting from scratch but I wanted his doctor to have the same sense of urgency as I had. That urgency should have been enough to make the hospital realize that we HAD to be seen within a week and not within the next 3 months.

After a frivolous search for another doctor I called the hospital EMU (epilepsy monitoring unit) back and decided I would just attempt to go higher than just the scheduler. I was ready to demand from the supervisor to get us in ASAP. To my surprise the scheduler had mentioned to her supervisor already that she had just spoken to one mad momma and he decided to open up more beds. However, they never called me back to tell me this - I happened to find out by contacting them! Grrr....... So they had an opening for Oct. 2nd and we took that. I did call every morning to see if there were any cancellations. I got lucky and there was one on the 29th.

We went in on the 29th and did his 23 hour EEG where he had 6-7 episodes. FINALLY we caught them on the test! I was relieved because now we could get some answers - hopefully!

I was hoping we would have some sort of preliminary report before his neurology appointment on the 4th. I wanted to have answers so we could decide appropriately what to do from this point forward.

This morning we went to the TSC clinic for Jace's regular 3 month visit and for my first visit with the geneticist. Before we really got to see the geneticist the neurology team (interns and fellows) were asking questions while his neurologist was calling to get info on the EEG from the 29th. I was HOPING to hear that they did get a chance to read it and we would know something.

We mentioned to the team that he quit saying "Dada", he no longer waves bye bye anymore and his walking is very clumbsy. He also lost his personality - he hardly every truly smiles and laughing is a thing fo the past as well. Its very depressing to see your blooming baby boy lose all this so quickly.

Things turned sour here......His doctor came in with the rest of her team and told us that the EEG was not good. It showed that he was pretty much constantly seizing and even had times of his brain activity flat lining.

She went on to tell us that she has been telling us for weeks to bring Jace into the hospital - This was a BOLD FACED BIG FAT LIE! I was LIVID! That's like a complete low blow to our parenting. If a doctor told us, or even suggested, we should bring Jace into the hospital you better believe everything would be dropped RIGHT there and we would be there ASAP! I actually had felt that there was NO urgency on their part. After I called the neuro about the ridiculous scheduling fiasco but finally getting the EEG scheduled sooner, I got a call back (before I could tell them I got a sooner EEG appt) from her nurse who just said "What can I do for you?" in a very rude tone almost like I was bothering her.

His doctor continued on and said "well the past is the past, now lets just move on and go forward with getting this fixed" (in retrospect it almost seems like she was trying to cover her butt by saying or insisting that we didn't WANT to bring him to the hospital).

She discussed the two medications available that works very well on the seizures that his having. She never specifically said Infantile Spasms but later when the geneticist came in that is the terminology she used. Our options were either Banzel or Vigabatrin. This issue with vigabatrin is in long term use there is a small percentage that is can cause peripheral vision loss. We opted for Banzel due to the risk with the other medication. However, vigabatrin has been proven to be one of the "miracle" drugs for TSC and was approved by the FDA because the the TSC community fighting for it. I pray that the Banzel works, however, if it doesn't and we have to decide between mental retardation from the IS or loss of peripheral vision then we I am sure we will switch over to vigabatrin.

We were admitted to the hospital today to start Jace on a loading dose of Banzel and then from there they decrease is to his usual dose he would be on if this works for him. They plan to do another one hour EEG tomorrow to check and see how the Banzel is improving his brain activity - if at all. So far the Banzel has make him pretty tired and he has moments of extreme fussiness - nothing we can't deal with while he gets adjusted on the meds. He has still had episodes on this new medication but that is to be expected since any seizure medication has to be at a therapeutic level to be effective.

We recently had blood work done and some stuff came back abnormal as well so we are going to figure that out also tomorrow. We want Jace treated as a whole patient - no more treating symptoms! I want them to examine the underlying issues as well!

Justin and I are about to become THAT family - the one that pushes and pushes and the doctors dread dealing with because we are going to make them actually work!!

We appreciate all the concerns, thoughts and prays! Keep the prayers coming!!

WE NEED THEM!

I will try to continue to update as we get more information tomorrow morning.....I think I am finally getting sleepy enough to go to bed (I am sure only to be woken up by a nurse taking vitals!) Please excuse typos and such - not really proof reading and editing.