So, as the year was coming to a close, our team of physicians were working over time to make the right referrals before the new year started. With a new year, comes the new insurance deductible to be met...
At this point our geneticist is about 95% sure that myself, my father, and my son all have some form of Tuberous Sclerosis. I realize that during my last post, I mentioned TS but didn't really describe what it is. Tuberous sclerosis complex (TSC) is a genetic disorder that causes tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs. You will see it referred to both as tuberous sclerosis (TS) and tuberous sclerosis complex (TSC) in different literature and research (http://www.tsalliance.org).
It can be caused by inheriting it from a family member, or by a spontaneously mutating gene. In cases in which it is inherited, there is a 50% chance that a parent with TS will pass it on to their child or children. In our family's case, it was apparently inherited... My dad has a lot of the dermatological markers, but never had seizures. The next generation, me, I had the dermatological markers and seizures, but never had an outstanding or concerning EEG or MRI scan. And now, Elias, he has more indicators than the both of us...
After meeting with the geneticist, we were then referred to the imaging center at our local hospital to have an angiogram of Elias' heard and a ultrasound of his liver and kidneys to check for "tubers" as well as being referred to the TS specialists at UVA Medical Center as well.
First things first. Before we went to UVA to meet the team of TS specialists, Elias had a few other tests performed. The renal and kidney ultrasound was completed and came back unremarkable. However, the angiogram of his heart was a bit more concerning. We found out that Elias has a mobile mass on his pulmonary artery, which is not uncommon in TS individuals. At first, the cardiologist in both Roanoke and at UVA were pretty concerned because of the fear that the tuber may break off and potentially go into the lungs causing difficulty with breathing and things. However, after further consultation and research, they were put a bit more at ease. We will follow up with the cardiologist at UVA in a few more months to see if the mass has changed, they typically resolve themselves by getting smaller and going away.
After finding out this additional information, we went to UVA to meet the team and discuss all of Elias' current and recent past medical history. It was brought to our attention that the MRI from the first hospitalization that was originally read as "normal" did in face have some TS indicators upon further evaluation. At this time, we were admitted to the hospital there for further study. Elias was hooked up to a semi-permanent EEG, so that the doctors could get a more representative sample of the seizures he was and is having.
After all the testing was completed, we consulted with the pediatric neurologist. It was confirmed that Elias had TS with Infantile Spasms and what is referred to as a "hypsarrhythmia," which is a chaotic background of brain activity even when Elias is not having a seizure episode. This type of brain activity can lead to learning delays and difficulties because if the brain is not provided a break from the chaos, then it assimilates that behavior as normal... where there is chaos in the brain, it is difficult to learn.
This concerned us greatly because Elias is in a prime brain development age where milestones were being met up to this point, and now it seemed like he was in learning limbo. There weren't very many options of medication at this point. The most highly recommended medication, vigabatrin, came with side effects. The side effects included visual impairment, peripheral vision loss and/or field cuts, tunnel vision, etc. This was also of great concern considering Elias is learning to sit up, crawl, and eventually walk... he needs to be able to see! Of course, he also needs to not be having seizure episodes that cause him to lose motor control and fall/drop his head into the floor when sitting up and/or crawling.
So, we decided to being the vigabatrin treatment. We have been using that, along with a few other medications to attempt to control the seizures and allow Elias' brain some "free time" from the chaos in order to facilitate learning.
In the meantime, we have also met with developmental specialist, who set us up with an occupational therapists to assist with Elias' fine motor development, as he was a little behind in this area. We have been working with him for about a week, but to no avail. He just does not seem interested in learning what we want to teach him! Silly boy.
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