Oct 14, 2010
Whitney had her brain MRI and VEEG this week. The MRI was normal and the VEEG was not. She is definitely having seizure activity. The neurologists in the hospital were very attentive and supportive. One resident took interest and I think must have spent hours researching Whitney's symptoms and some of the early VEEG results. (I am glad we got in to the early appointment rather than the later one we were scheduled for - this gave the docs lots of time to look over things). She spent a quite a bit of time with us on Tuesday, asking questions, getting history, examining Whitney, etc. Before she left she asked if I had any questions and I said yes..."what does she have and how are you going to fix it?" She didn't laugh, she said she would be working on Whitney's records and researching it. (She also promised Whitney she would bring her cookies in the morning). So when she came back in the morning, she not only delivered on her promise of cookies, she also brought ice cream AND a diagnosis! (one she hadn't confirmed with the attending but she was pretty confident). She thinks Whitney has a mutation on the SCN9A gene which can cause siezures and pain. The pain syndrome is called Erythromelalgia. The attending neurologist agreed, and during rounds with the resident and med students, he explained it all to me and made sure I was on board before he made any changes to her meds or treatments.
I have a lot of reading to do to! She sees a geneticist in November. They are weaning her off Lyrica and starting her on Cymbalta. I told the attending that she has an appointment with Dr. Jones at SLCH pain management clinic. He said that was GREAT. He wants all the best doctors in the midwest on Whitney's case. He wants a team to manage her - the hard part is coordinating them all togehter since they are in different hospital systems. So the rheumatologist, neurologist, and geneticist will be at Cardinal Glennon and PM and psychology at SLCH. Who knows who else will jump aboard. He also told Whitney if this is truly what she has she is going to be in the medical journals someday. (LOL - is that a good thing? I guess so - now that some test showed something is off, the doctors are finally interested enough...). Oh the Lyrica could be causing or contributing to the seizure activity as well. As soon as it's cleared from her body we will know for sure. But epilepsy runs in our family so who knows maybe several of us have the SCN9A mutation. Maybe my mom's fibromyalgia is actually erthyromelalgia....hmmmm...it's all treated the same I think...