So, I did it. I decided to jump on the blog bandwagon. I'm doing this mostly for myself, as a sort of journal, but also for family and friends to follow Dominic's journey with us.
Dominic was born September 29 of this year a perfectly healthy 7 1/2 pound baby boy. The first few weeks were exhausting with a newborn and getting used to having two kids. But overall, Dominic was a very typical baby. The day before Thanksgiving we were in Naperville and he had what I thought was a seizure. Over the next few days he continued to have more and more. When we got home Saturday, we called the Pediatrician and after taking one look at him, sent us straight to Helen DeVos Children's Hospital in downtown GR.
His fist couple days in the hospital he had an CT Scan, MRI Lumbar Puncture (spinal tap), blood work and a 36 hour EEG in hopes of finding what was causing the the seizures. Based on his EEG they saw he was having complex partial seizures as well as numerous clusters of spasms. He was put on phenobarbital and a slew of other meds before they finally diagnosed him with the catastrophic epilepsy disorder called Infantile Spasms.
While Infantile Spasms don't sound all that bad, it is actually a rare form of epilepsy that affects only 4 out of every 10,000 births. It's considered "catastrophic" because it is very difficult to treat and has a pretty poor prognosis. Most children with infantile spasms are mentally retarded later in life. Those whose spasms are related to an underlying developmental brain disorder or injury have a higher likelihood of moderate to severe retardation. The outlook is brighter for those who were developing normally before the spasms started: 10 to 20% will have normal mental function and some others may be only mildly impaired. Some children with infantile spasms develop autism. Many doctors believe that the quicker the seizures are controlled, the better the results will be. There are two categories of IS - Etiologic, which means an underlying cause is found, or Cryptogenic, in which a cause cannot be identified.
So, after finding out this news, my heart nearly broke in two. I could not believe that my perfect little angel was faced with such a horrific prognosis. They began treating him with Vitamin B6, Pyridoxine and Topomax. He responded a little to the Topomax and the spasms lessened a bit. But within a day, they were back to full force, even worse than before. They then decided to put him on Vigabatrin, which is a pretty heavy duty drug that was just approved by the FDA in 2009. The biggest side effect is permanent peripheral vision loss. He seemed to do well on it and they released us from the hospital after 6 days (on my birthday!) and sent us home to continue on the Vigabatrin as well as the 3 other meds.
The first few days were amazing! He had maybe one spell of just a couple minor spasms. The medicine was working! Praise God! He was smiling and cooing and alert and I was overjoyed. We started Occupational and Physical therapy immediately and they said he looked great. He was behind a little in some areas, but considering his prognosis, he seemed to be doing very well. Sadly, 4 days after starting the Vigabatrin the seizures and spasms returned. Small at first but then became more severe and we were back at square one. Last week he went back to the neurologist for another EEG. It showed that not much had changed, but they didn't see any Hypsarrhythmia, which is chaotic brain activity consistent with IS. This is great news! However, if the spasms don't stop, it will eventually show up.
So far, everything has come back normal - MRI, CT, spinal fluid, blood work with the exception of one thing - his Carnitine levels came back low. I won't go into what Carnitine is, other than to say that it has something to do with amino acids and how energy is used in the body. They took more blood on Friday to re-test, just to make sure it wasn't just a fluke and put him on a Carnitine supplement over the weekend. We'll see if it helps.
So, this leads us to today. Dominic is still having a lot of spasms and seizures and at times I lose hope. We are meeting today with the neurologist, epileptologist, and metabolic specialist to determine which path to go down for Dominic. The next logical step if they don't keep him on Vigabatrin is ACTH, which is a steroid treatment. It has some severe side effects (major weight gain, diabetes, hypertension, irritability etc.) and it needs to be injected into his thigh twice a day. It would mean another 4 day stint in the hospital and then me giving him the injections at home after that. They will also be setting up an extended EEG that will last a couple days. There are other medications as well as a ketogenic diet to try if the ACTH fails. It seems to be a game of trial and error at this point.
It's hard to believe this all just started 3 weeks ago. It has been quite a whirlwind and a huge emotional roller coaster for our whole family. While Dominic is much of a question mark at this point, one thing we know for sure is that our Almighty God is holding him in the palm of His hand. He knows the plans he has for Dominic and for our family. We are holding tight to this promise, knowing that God has given him to us for a reason and we feel privileged, as parents, that God has entrusted him into our care.
