Genetics: Dr. Chapman @ Children’s National

Today we saw Dr. Chapman. I really liked her. She took time to answer all of my questions and just discuss Addyson’s Case. She said that we have truly had the best of the best genetic testing done. She only thought of two extra tests we could consider, one of which we went ahead with today. We should have those results back within the week. This test is known as GFD15. It’s one of the MITO Tests, we have already done the muscle biopsy test and whole exome/whole genome testing for mito, but she wants this one to test the function level of Addyson’s mitochondria.

What is GDF-15 mitochondrial disease? GDF15 is a protein of the transforming growth factor beta superfamily. GDF15 is overexpressed in muscle and serum in patients with various types of mitochondrial diseases, including those with mitochondrial deletion, depletion, and point mutation syndromes.

We talked about the operating room protocol for her regarding the MITO and how sometimes we get push back from the anesthesiologist. She said, if they push back, just start listing all her diagnosis’s, she said they will stop and follow the protocol.

We discussed her FMF. How she is doing well on our FEVER MED protocol, which is great because the long term affects of untreated FMF are very serious.

We discussed how her epilepsy is pretty controlled….we go next week for the EEG to get a snapshot on her seizures.

Then we discussed her autonomic dysfunction and her uptick in recent flares. She was upfront and honest with us. She said that the next 9 years (YES you read that right, 9 years) will probably be her most severe for flares. She said with all the hormone changes, most girls with autonomic issues struggle a lot from 10-20ish. She gave us some things to consider as far as balancing hormone levels. We have an appt in MARCH to discuss those ideas.

She said yes, while in these autonomic flares, the only real treatment is to UP fluid, UP rest, Decrease Stress (even happy stress) and to increase salt. She said there really isn’t much more we can do when she’s in a flare. And it sucks, but at the end of the day, this is autonomic dysfunction. However, she still thinks we have three other things besides just autonomic dysfunction (MITO, EPILEPSY, FMF).

She added a new medication to our routine and we are hopeful that will help! FINGERS CROSSED.

We were blessed today to have our friend JENNA go with us. Geneticist tend to throw a lot out at one time, and I wanted a second set of ears to help me capture it all. JENNA is always fun so Addyson thoroughly enjoyed her coming with us and I greatly APPRECIATED it.

Then addyson had tumbling practice, but she can’t tumble because of her heart, so her coach has been working on softball with her. She has really improved how far she can throw

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