Annie's Ophthalmology and Neurology Appointments

Annie saw her ophthalmologist on Monday for a routine check-up.  She's required by the FDA to have her vision checked every three months because her seizure drug, Vigabatrin, can cause vision loss.  This is why Vigabatrin only got FDA approved last fall, although Annie started taking it when she was about 4 months old.  (Until last fall, we were getting her Vigabatrin from a Canadian pharmacy, which didn't accept U.S. insurance, obviously, so we are VERY grateful to now be able to get this drug in the U.S.)

We understood the vision risks when we started Annie on this drug almost 8 years ago, but Vigabatrin is the most effective drug in treating the type of seizures that Annie has most often.  We have been very pleased with the level of seizure control, and so far she has not had any functional change in her vision.  Since she started Vigabatrin, Annie's holes in her retinas (called retinal lacunae which are a marker for Aicardi Syndrome) have changed just slightly--some have gotten slightly bigger, and others have merged together, but since most of her lacunae are in her peripheral vision, none of these changes have effected her central, functional vision.  It's also difficult to know if these changes are due to the Vigabatrin, or if these changes would have taken place even without taking it.

Annie has been diagnosed as legally blind, which allows her to get vision therapy at school to help keep her vision as good as possible.  I think the doctor was willing to define her as legally blind because her vision impairments are rather significant and cannot be corrected.  (We usually explain to people that Annie's vision appears as Swiss cheese.)  The area around her optic nerve is fairly clear from lacunae, so we know that when her eyes are looking directly at something, she does see it pretty well, although her peripheral vision is somewhat limited.

So, back to her eye appointment on Monday... the doctor didn't notice any change in her lacunae or peripheral vision since last year.  Annie's prescription did change on one eye though.  When she was born she was far-sighted in her left eye and near-sighted in her right eye--one reason she perked up once she got glasses at 7 months old!  Over the last couple years, her near-sighted eye has resolved itself and this past year she's had just a clear lens for that eye.  Today however, we learned that near-sighted eye has now become slightly far-sighted!  So Annie will be getting new glasses in the next couple of weeks.  The ophthalmologist also didn't see any evidence of crossing, so we're glad that's gradually resolving itself.  Her muscle relaxant, baclofen, has been causing more crossing the last couple years because it has been relaxing the muscles around her eyes, but last October we decreased her baclofen dose in preparation for surgery, so that has helped improve the crossing.

On Tuesday we then saw Annie's neurologist.  Even though Annie's myoclonic seizures have increased slightly over the last couple months, we aren't increasing her Vigabatrin quite yet.  She has only gained just a few pounds since her last dose increase, and since her seizures aren't really bad, we'll wait to see what happens.  Her grand mal seizures have not increased--she still has one about every month or two, but they are only requiring emergency Diastat about every 4-6 months.  Her myoclonic seizures used to be about once or twice a week, but now they are happening about five times a week or more.  That's still pretty good control, so we'll just watch how they do.

I consider myself very lucky in regards to seizures.  Most people wouldn't think that "good control" would mean almost one seizure a day or even a week, but it's really all relative for us.  Eliminating seizures completely is nearly impossible with Aicardi Syndrome.  Annie's first year was so difficult with seizures--having as many as 20-30 a day, with 90 one day as her record--that we really do feel like Annie has excellent control with drug side effects really at a minimum.  Most other Aicardi girls continually struggle with seizure control, constantly adding new drugs and weaning off others, some needing the VNS stimulator implanted.  We're so grateful that seizures really haven't been such a difficult thing for us.  Now her vomitting... that's another issue!

Annie's neurologist inquired about her baclofen dose and why it was so low and why she's even on it since her highest tone areas were surgically corrected several months ago.  Since her three orthopedists didn't feel comfortable making a decision regarding her baclofen dose, we decided to wait to see her developmental pediatrician at the CDC clinic this summer, who has been monitoring her baclofen use.  We thought at that point we could ask him if we can take her off baclofen completely, but today our neurologist took that into his own hands.  He suggested we slowly wean her off the baclofen, and if we see that her tone is increasing, instructed us to wean her back up to a dose we're happy with.  But her dose is so incredibly small right now that we doubt it's having any affect on her tone at all.  So we've started weaning her off the baclofen.  It will be nice not to have any drugs we have to give her in the middle of the day now--and not have to worry about meds administration at school anymore.  Hopefully stopping the baclofen won't increase the tone in her knee and ankle, but maybe it will help increase the tone in her throat just enough to help prevent a little bit of her apnea, although I doubt it.

Well, who knew that two such routine appointments could turn into such a long blog post?!  I guess I just feel like since we moved, not many people still know very much about Annie.  Anyway, thanks to those who read this far!  Hopefully this helps at least give some insight as to how Annie sees.