we finally have a diagnosis

Well, the results are in from Dr. Shoffner and I've gotten to talk to Dr. Krawiecki briefly. He called me back yesterday and spent 20 minutes on the phone with me. He said that unfortunately, the tests that were run have no prognostic value. There is a possibility of all ranges of challenges for Eve, from stability to fatality. The first mitochondrial mutation was discovered in 1984. Dr. K said that when he first saw patients with this 20 years ago, he told them that the situation was grave (i.e., progressive and fatal). However, he is still seeing some of those patients today and they are stable. So, I am not as discouraged as I was last week. I truly feel that she has been doing better lately and has a great chance for stability.

He told me to go ahead and start Eve on the CoQ10 that Dr. S recommended and he gave me a dosage to follow. Unfortunately, it's very expensive and I don't think insurance will cover it because they will consider it a dietary supplement (it's not a prescription drug). Dr. K says that we will put her on it and look for progression and improvement of functioning. He said that he has then taken patients off the CoQ10 to see if they revert or not (indicating if the CoQ is helping or not). He said that all our questions will not be answered with this diagnosis, as always seems to be the case.

The diagnosis is helpful to some extent. We know that this is a genetic issue and this will have an impact on our future family planning. That being said, genetic counseling will also be difficult. Shoffner's diagnosis is probable mitochondrial encephalomyopathy. He is waiting on approval from insurance to perform mitochondial sequencing to differentiate between a nuclear DNA mutation and a mitchondrial DNA mutation. Dr. K said that if the problem is with nuclear DNA we will have a 25% chance of this happening again with a future child. If it is mitochondrial, the risk isn't known. Such a mutation could have been a sporadic mutation (i.e., random, no explanation for why), or one that has been hiding in family history. Also, given that I had a miscarriage in the fall, he thinks that the risks may be somewhat higher for me. Because the egg supplies the mitochondrial material (and not the sperm), we could always look to an egg donor for future kids if it turns out not to be a nuclear DNA mutation. Alternately, there is always adoption if we feel the risk is too great for us (for whatever type of mutation).

So, that's a lot to digest. This blog is very interesting for me. I really have no idea just how many people are reading this (and it is a public forum) and here I am sharing some very personal details, those that I wouldn't ordinarily advertise. But I know that my friends and family care about Eve and about us, and that these details are part of the story.

We see Dr. K in 2 weeks (he was able to move up our appointment), so that gives us time to collect our thoughts and questions. If you have any questions that you think would be important to ask him, I would appreciate your input. I'll be bringing a notebook with me to the appointment! Thanks for your love and support!