A Change of Diagnosis

We had a meeting with Grace's neurologist on Friday. I usually go in prepared with a list of questions. One of my questions was long term prognosis for Dravet's. What should we be expecting? Instead of grim, dire news, he said he thinks that Grace may have GEFS+ and not Dravet's. The big distinction is that Dravet's is characterized as a degenerative disorder while GEFS+ is not. Both disorders are related to the same genetic disorder - the SCN1A gene. When Grace was first diagnosed last year, she followed the typical path of a Dravet's patient. However, she has obtained some degree of control through the diet and she has not developed the characteristic myclonic jerks, her doctor feels that she most likely does not have Dravet's.

Grace did her typical not talking for the doctor or nurse practitioner this time either. She gets shy and coy when the doctor comes into the room. I swear she is flirting with him. It is hysterical! This time she didn't do her pattened move and put her elbow on his knee, with her hand under her chin and gaze up at him adoringly! That is really outrageous flirting when she does that! I swear she did not learn that from me - LOL.

The one downside of this visit is that they are recommending that Grace stay on the ketogenic diet for as long as her body can tolerate it. This means longer than the 3 years we initially thought when we signed on for it. They are pleased with her progress - well over 160 days seizure free and want to make the most of that. In the grand scheme of things, it's a small price to pay for a continued good outcome.

We reviewed what to look for when we take Grace back for our follow-up with the IU (Intermediate Unit) in October. The doctor and nurse practitioner feel that Grace can benefit from some speech therapy and some cognitive therapy. I will do my part and push for that. I really didn't push in April. Now I know better.

We also discussed potty training. Grace was almost completely potty trained before she got pneumonia for the first time this winter back in December. With two more hospitalizations and a stay in ICU after that, she is very much regressed in her potty training. I was concerned because she was catheterized and I worried that it damaged something. We were reassured that many children regress after a hospital stay and that this is normal. Given that she had three stays in a short period of time, this is understandable. CHOP does have a program to help children who are delayed with potty training; however Grace does not qualify for it. They don't think it is a problem until the child is 6 years old! Where Grace is at is perfectly normal. I love hearing that !

Grace also topped the scales at 30.2 pounds! This is great news. She is almost back to her January starting weight of 31 pounds. I will try to post photos soon of her filled out cheeks! The camera and charger got separated so I now have a uncharged camera that I have been carrying around - not very helpful!

Thanks for checking in.