Throwing Darts at the Wall

Will having fun in his swing

It looks like we are a bit overdue for a blog update...things have been hectic, as you might expect with 2 kids and now that Spring is here, a lawn that needs mowed, soccer games to attend, fish to be caught at the lake, and a whole bunch of doctors appointments to squeeze in in between.  We have been trying to enjoy life as much as possible despite all that is going on around us, and despite the fact that we cannot take Will out in public.  We have had some really nice spring weather this week, which certainly helps!

Dan and Jack at Jack's first soccer game

We met again with Will's metabolic neurologist at the Clinic to follow up on possible causes of Will's optic nerve damage.  He suggested that, although unlikely, it could be possible Will might have a mitochondrial disease.  The only way to test for this is to surgically remove a 1 cm section of Will's thigh muscle and do a biopsy on the tissue, and even after doing this, the test is inaccurate at best.  However, there are some additional blood tests that can be done first which would indicate whether Will has additional factors that would justify performing the more invasive testing.  For now, we have decided to hold off on the muscle biopsy until we have more data, especially because Will simply doesn't have the typical characteristics of mitochondrial disease, such as low energy levels or lack of muscle tone.  The opthalmologist we see stated that the optic nerve damage could also be caused by a malformation of the brain, which seems like a more plausible theory given Will's history.

At the end of last week, we travelled to Detroit to meet with perhaps the most well known specialist on infantile spasms in the world.  He was very upfront and open, and answered our questions in a very straightforward manner.  It was nice to get a "fresh" opinion.  When he walked into the room, he was amazed at how well Will is doing developmentally.  He said that based on his review of Will's PET scan, he wouldn't have expected him to be able to even hold his head up, as his brain activity is so slowed.  Even though it might be a bit paranoid, we have decided to wait to blog-post his opinion on surgery until after we have the opinion from the Clinic, because we don't want to unwittingly bias their decision since we know of several people at the Clinic who do read this blog.

We are starting to understand that not only does Will have a unique disorder, but Will is also a very unique case.  Of course, with infantile spasms, no two cases are alike anyway.  We have met with countless specialists at the Clinic and now a well known neurologist in Detroit who are all extremely experienced and knowledgeable, and yet we feel as though they are all scratching their heads to figure out how to best help our son.  Our past experience with medical issues have always been simple and clear cut.  You get a headache, you take some Advil.  An ear infection, maybe some antibiotics.  There was always a cure.  Dealing with intractible epilepsy is nothing like that, and we feel like we are just throwing darts at the wall and hoping something sticks.  Not a comforting feeling when your son's entire future is at stake.

Will's surgical conference at the Clinic is scheduled for next week, and after that they will give us their opinion as to whether they feel Will is a candidate for surgery.  We have no idea what they are going to say, and we're not entirely sure what to even be praying for.  Obviously, if surgery will help him, then we want to do whatever is best for little Buster Beans, even if that means removing a portion of his brain.  If surgery is not likely to help him, then we don't want to take such an irreversible step.  The problem, of course, is that you can never truly know if brain surgery will work until after it is done.

Buster waking up from a nap

We are still not seeing any results from the Vigabatrin.  Will is having about 10 episodes per day right now, and each episode lasts between 4 and 8 minutes...which is a lot when you consider that each episode contains 30-50 spasms or seizures.  We are going to begin increasing his dose of Vigabatrin this week, are still winding down with the ACTH, and soon we will get to wean Will off Topamax.

We have been doing a lot of reading about a non-drug treatment option called the Ketogenic diet that has promising success rates in infantile spasms patients for whom traditional drug treatments have failed.  Johns Hopkins is now using the Ketogenic diet as a first line treatment for infantile spasms.  It is basically like an extreme version of the Adkins diet, very high in fats and low in carbohydrates and protein.  All food must be carefully prepared and measured, and Will would actually have to be hospitalized to begin the diet.  Given all the drugs that we have tried and failed, the Ketogenic diet has the best chances of success of any non-surgical option available to Will.  We are planning to discuss this with the Clinic at our appointment next week.  Regardless of the decision on surgery, we think this may be worth pursuing.