Sunday, May 8, 2011

Neurology Appointment

Last week, we had a long standing neurology appointment, and it turned out to be probably one of the shortest appointments I think we have had to date. This is the second time we have seen this particular neurologist, and Sarah and I are pretty comfortable with him. He is direct, which is great, but more importantly, he recognizes that our family had been on this journey for almost 6 years and he is merely acting as a guide, acting in our best interest, on how to continue the journey.

We discussed medications first and foremost. With all of the changes coming up (mainly Mira's transition into her new summer schedule with the school district and our potentially slow and gradual departure from IDC) that we have no intention of rocking the boat with medication changes on top of everything else. Mira has been on a combination of Lyrica and Clorazepate for some time now and we think it is the best balance that we can achieve for her. She is still having daily seizures (all types - myoclonics, tonic-clonics, head drops, absence, etc.) but nothing new or out of the ordinary. Lyrica helps with the seizures while the clorazepate helps with the irritability. We briefly discussed clobazam, which is only one of two medications that Mira hasn't tried, but I think we will only look to alternatives if things are getting worse.

Genetics is always woven into the dialogue at every neurology appointment and this past meeting was no exception. We ran down the list of isolated gene testing and her neuro keeps coming back to Dravet's Syndrome (SMEI - Severe Myoclonic Epilepsy in Infancy) and the genetic anomalies associated with it, focusing on the SCN1A gene, which Mira has already tested negative for, years ago. There are now additional genes, including SCN1A and SCN1B that are being tied to kids with Dravet-like symptoms - the genetic connection(s) keep expanding. Based on Mira's history, I'm not sure I necessarily agree that Dravet's is accurate in terms of a diagnosis, but anything is possible I suppose. The spectrum with any diagnosis is so varied and unpredictable that it is pointless to theorize any more about which gene causes what. Based on what I have read, I think Dravet's is less likely in Mira's case - again, just based on history and symptoms of the disorder.

Regardless, we are taking the approach that it is fruitless to test for isolated genes (Mira has done 5-10 different genes to date) particularly when the testing at this stage, would be very, very low. Thus, we are going to wait until Children's Mercy advanced genetic testing becomes available, which will be in another 6-9 months. I don't recall the name of the specific test, but I do know that it will test for over 300+ genes, instead of single isolated genes. The technology keeps advancing exponentially it seems.

We also decided during our appointment that we should reduce our neurology visits to just once a year now. Mira has been pretty steady in terms of her seizure activity over the past 2 years and there really is no compelling reason why we would need to continue our 6 month visits. All of her medication tweaks over the past few years have been either over the phone or through email.

Unless of course, we enjoy paying our new copay at CMH, which TRIPLED since our last visit. Ah, insurance...........sometimes it is pointless.

1 comment:

Jenna said...

Hi Mira
my name is Jenna and I came across your site. U are a brave courageous fighter and a hero. I was born with a rare life threatening disease.