Thursday, Dr. K called to say that the genetic test they ran on Lizzie came back with a "benign variant" on the SCN1A gene. He said it was unclear whether this variant is what's causing her seizures. In order to clarify, he wants to test Tom and I to see if we also have the variant on that gene. He said we could be tested at Lizzie's next clinic appointment, which is supposed to be in January (still waiting for them to call us to schedule a date). Potentially, this could be important, because it could give a name to whatever syndrome Lizzie has, which would give us a better idea of how to treat it and what kind of prognosis to expect. All I know right now is that the SCN1A gene is linked to many different types of seizure disorders, depending on what kind of mutation happens and where on the gene it's located. However, since Dr. K isn't in any hurry to test Tom and I, and once he does I assume it will be another 6+ weeks before we get the results, it's going to be a while before we have any more information than that.
November is National Epilepsy Awareness month. Visit www.epilepsyfoundation.org to "Get Seizure Smart" and test your knowledge of seizures, learn more about seizure first aid, and find out what you can do to support those who have been diagnosed with epilepsy.
On a related note, the color for the epilepsy awareness ribbon is lavender. I went to Joann's and bought a roll of ribbon to make some pins. They're nothing fancy, but if you want a ribbon, let me know!
No comments:
Post a Comment