Genetics/mito clinic appt

Well, we went to see Dr. Kendall today. Very very interesting. She spent about an hour with us. She started by explaining the functioning of mitochondria and gave us more detail about her lab results. She asked us about Eve's functioning, and how we envisioned Eve's life/prognosis. I bet she was relieved she didn't have to do the whole "progressive and fatal" explanation. She wants Eve to have a EKG/echo (sp?) workup done to get a baseline (not because she suspects a problem). The heart is one of the systems that can often be affected with mito. She also mentioned that lots of mito kids are on feeding tubes. That might be a future issue, but we'll cross that bridge if/when we have to. We also talked about the DNA sequencing. I have to ask Dr. S's office to send the muscle DNA to Dr. K's office. This should tell us if it's a mito or nuclear DNA mutation. There is a 75-90% chance this is a nuclear mutation. If it comes back as mito mutation, they will test me to see if this is sporadic or if I am also affected (although asymptomatic). She said that once her lab gets the sample it should only take about 6 weeks, rather than months to do the sequencing. I guess there are 16,000+ possible mutations... or was that mutation sites. I forget. She wants to see us every 3-4 months to start. The frequency of visits is depending on the patient's severity.

We also asked questions about meds. She wants Eve to get riboflavin (B2) because it has shown to help some patients with Type I defect (which she has). She is against the mega doses of CoQ10 because it doesn't cause miracles and has actually shown to be correlated with muscle disease in some patients. So, we are sticking with the 300mg, but could go to 500mg if we want. She does think it is helpful, so we shouldn't drop it all together. She said it's just that CoQ10 is not like chemo for cancer. It won't fix this. Oh, and she wants Eve to start a low dose of carnatine. Boo. :( Carnatine makes some kids smell like fish. They excrete the odor through their pee, sweat, etc. yuck. Cross your fingers.

They took about 6 little vials of blood (of course Eve was not thrilled) to check different levels (lactate, etc). Oh, and Dr. K gave us a ER protocol letter. THis way, if we need to go to the ER, they have the info on her disorder and what precautions should be taken, etc. I feel very positive about this appointment. Oh! and she gave us her email!!!! Yay! I can't tell you how many times I have really quick question and I'd love to email the neuro. But I can't have his email and I have to leave a message with an answering service EVERY time I call, no matter what the reason. So this is great. We go back in the middle of October.

Here are some pictures of the portable chair we got for Eve. We've used it twice at a restaurant and it's great. It comes up high enough in the back that she feels very secure. It doesn't wobble like many of those wooden highchairs, and we know it's clean. The only drawback is that it's hard to maneuver a cup for her to drink with. :)




Here's the latest pics of our 16.5 lb bruiser!!