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Erythromelalgia and SCN9A Mutation

Oct 14, 2010 - 4 comments

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's all treated the same I think...

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Avatar universal
by LA1989, Oct 14, 2010
I am so happy that you have a diagnosis!! Praise God for that--because I know that even if it means a lot more work coordinating schedules and doctors and insurance, having an answer means you have some sort of direction, and that's a good feeling.

I am excited to see if this can all start getting your sweet girl back to health SOON.

Avatar universal
by CHRISTYDRAKE, Oct 14, 2010
Yeah for you and Whitney!   Finally an answer and help on the way!  That is very good news.  

Now to show my ignorance-what is VEEG?

Avatar universal
by enzymelover, Oct 14, 2010
I hope this means they will find a way to get rid of Whitney's pain very soon.  Is there a genetic test that can be done to confirm this diagnosis? Oh wait, you did say she's going to see a geneticist in November. I guess you'll have that answer then. If epilepsy runs in your family, there really could be a genetic influence for it.
This sounds like a real breakthrough. I do hope the treatment works quickly!

Casey is seeing a geneticist in Nov. too, and will be getting an MRI Nov. 8. But first, another exam at LPCH Heart Center, next week. His specialists are at two different hospitals, and it does cause some problems and delays. Just had to send another request for records transfer from SF neurosurgery to LP Genetics. Coordinating his care has been problematic, but it's worth it to me, to get the doctors I want.

I'm so happy for you!

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by tdavidson, Oct 14, 2010
A VEEG is a video electroencephalogram (EEG). They hook up the patient to the EEG machine and video tape the patient so that they can actually see what the siezure looks like in "person" not jut by the brain waves. It was a 24 hr test inpatient. I had to stay with Whitney the whole time and any time I noticed what I thought was a siezure I had to hit a button and write down the time and what she was doing on a chart.  She also had to be sleep deprived which meant I did too. Not a problem for her since she has a hard time sleeping anyway. It was torture for me since I didn't sleep well the night before.  We got to sleep from midnight to 5am.  And sleeping on the cot I got in a noisy room was not easy!

There is a genetic test but right now it's done in the Netherlands, Germany and somewhere else.  But they are working out the details and then we'll see the geneticist on Nov 30.  I really hope the new meds work and that going off Lyrica will stop the seizures...stay tuned!

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