It has been an exhausting couple of days for us, but we would like to attempt to share with you some of what we learned from our doctors in St. Louis today. Please forgive us if this reads like a medical journal. Don’t have much energy to write more than just the facts at the moment.
The diagnosis: Infantile Spasms (IS) -We arrived in St. Louis yesterday. At the beginning of our appointment, we explained to the doctors the kinds of abnormal movements we were seeing in Luke. (started seeing these early September) These startle jerks often occur when he is waking up from a nap and seem to come in clusters. Our neurologist here in Springfield had read Luke’s recent EEG and ruled out the possibility of infantile spasms. He really couldn’t give us a good reason for why Luke would have these startles though. While we felt a huge relief when we heard that it wasn’t IS, we continued to feel very uneasy about the situation since there was no explanation and the spasms were getting worse. As soon as we explained all of this to our docs in St. Louis yesterday, they immediately suspected that Luke did in fact have IS.
They asked for us to stay the night and come back to St. Louis Children’s Hospital this morning for a repeat EEG, which would be their final confirmation. This morning, Luke was hooked up to the EEG machine for about 45 minutes. Shortly after, the docs came in, gave the diagnosis of IS and immediately started talking to us about possible treatments, emphasizing that time is of essence and treatment needed to start as soon as possible. (pretty much today)
The cause: Luke is diagnosed with symptomatic IS. Most likely, his spasms are caused by a pre-existing brain injury….in his case, the brain bleed at brith.
Often IS is a genetic disorder. Since we have no history of epilepsy in our family, and since Luke has an identical twin brother without the disorder, he is quite a quandary. Washington University is a research hospital and currently neurologists there are studying the genetic component of Infantile Spasms. We have released Luke’s records to be used for research, agreed to genetic testing, and will allow them to run tests on Caleb in the future as well, as this data could greatly help their research efforts.
Treatment: There are a couple of options. We have chosen to try the drug Vigabatrin (Sabril) first. This med has been used to treat Infantile Spasms in Europe for about 20 years but has never been approved by the FDA….until 2 months ago! It is very strictly regulated and Luke will be placed on a national registry and monitored very closely. The most serious side effect of this drug is loss of vision. Research shows that vision loss typically occurs with long term use and they don’t plan to keep Luke on the med for more than a few months. Luke will have to closely watched by his eye doctor here in town while he is on this med. The drug will be shipped to our home within a week.
We will continue to increase his anti-seizure med, Topamax, as well.
In very rare cases, IS can be treated, believe it or not, with a vitamin, B-6. In some cases the body simply doesn’t process B-6 normally and infantile spasms can result. In this case, a supplement is needed. We gave Luke his first dose of B-6 tonight. While we’re waiting on the other drug to arrive, we’ll try the vitamin and see if we notice any lessening of the spasms.
Our main objective now is to stop the spasms. It’s long (and quite complicated) to explain all that is going on in his brain during these spasms, but suffice it to say that they are very bad and need to be stopped as soon as possible. Left untreated, the spasms would cause Luke to stop developing any further than he already has, and in most case, would actually cause him to lose skills he has already mastered.
So, the treatment is to stop the spasms. If Vigabatrin doesn’t work (and half of the time, it doesn’t) than we will have to do the second option, ACTH therapy.
Prognosis: The hardest news to hear by far. Really smart doctors tend to have very little tact. That was certainly the case with our doctors today. Maybe that’s a good thing. They were straight forward with us that the long-term prognosis for Luke is very, very (insert about 10 more “very”s here) poor. Children with Infantile Spasms generally go on to have severe motor and cognitive delay. The spasms themselves will often stop by age 4, only to be replaced by another kind of seizure. These seizures are typically hard to treat as they are unresponsive to anti-seizure meds. Since seizures are so hard on the brain and can often erase whatever skills been learned, these frequent, hard to control seizures wreak havoc and simply leave very little hope of any significant development.
Prayers: I guess by now we’ve left no doubt in your mind, that short of a miracle, things are looking pretty bleak for Luke. Specifically, you can pray that the Vigabatrin works and that the spasms are stopped quickly. Pray, pray, pray for Luke’s brain. The thought that has come to us over and over since he was born was a prayer for “order to be restored” in his body. These spasms cause Luke’s brain to be extremely disorganized and the EEG shows very chaotic activity. More than ever, we need to pray for ORDER. Continue to pray for perfect development. Please ask God to bring a peace to our hearts as well, as we face all these new challenges. We’ll be traveling a lot back to Children’s Hospital, so pray for travel safety.
If we’re honest, this recent diagnosis has certainly left us with a level of hopelessness, doubt, confusion, fear, and the list goes on. You can probably imagine the kinds of thoughts that run through our mind…maybe you have the same ones. How could we pray so long and now come to this? How could you do so many miracles, God, only for this to be the result? Even though we have many questions and don’t always see God’s hand….there are certain things that we are very thankful for at this moment. We’ll end with those things:
· God miraculously opened the door in St. Louis and connected us with some of the very best pediatric neurologists in the nation. We feel they were attentive to our concerns and we’re thankful they were able to quickly discern Luke’s condition.
· Both treatments are very costly (doctors estimate up to $100,000). Just two months ago, without FDA approval for the drug Vigabatrin, insurance would have not have paid for this treatment option we have chosen. We understand they are going to be paying it in full.
· Most children who get a diagnosis of infantile spasms have already begun to lose skills they have already attained. In Luke’s case, the spasms started in September, but since time, he has learned to sit unassisted and has become stronger. He is very delayed in his development for his age, but still the doctors were very surprised that he has been making progress even after the spasms started.
We know people all over world are praying for Luke. Thank you for your prayers. We love you!