Waiting…….. Something I have discovered I am no good at. It is also something that we have been doing a lot of the last few months.
Back on November 19th Mattie had a muscle biopsy along with some other testing to see if we could find some answer as to why she has been struggling so much lately. Most of the test results have finally come in (others will take another month or so). I am still trying to wrap my head around all of the information so bear with me as I try to explain it all.
Mattie has been diagnosed with a “probable” Mitochondrial Myopathy. They explain the “probable” with the following blurb.
*Note concerning terminology: Due to the complexity of the gene system that codes for and regulates oxidative
phosphorylation, the term “probable” is used for all cases that do NOT have a gene defect identified. The term “definite” is
reserved for cases where a specific gene defect has been identified. This is consistent with the approach to diagnosis of
many categories of disease. Data is obtained as the patient is evaluated that either increases or decreases the probability of a
They have started running the DNA tests and hopefully we will be able to identify the specific defect causing the problem with the mitochondria. The docs tell me that only about 10-15% of the patients will end up with a gene identified with the current technology and information available. They did say they would keep testing and sounded very hopeful that they would identify the defect.
I asked if the test results could be explained by anything other than mitochondrial myopathy and they assured me that they felt very certain that this was indeed mitochondrial myopathy and that they couldn’t come up with anything else that would explain the results. So… I am trying to set down my denial and wrap my brain around the new diagnosis. We got a lot of new information and were assured that they would go over all of it again at our next visit. They also suggested that this may in fact be related to her other syndrome some how (Klippel Feil Syndrome). I am very interested in the genetics of all of this and how it all comes together.
So what does this all mean????? That is an awesome question… and one that I am not sure I really know the answer to. Here are the facts that I have been able to put together. If I have missed anything or if you have any other questions let me know. I will do my best to answer the best that I can.
- Mattie will be starting two different supplements to try and counteract the fatigue.
- She will be having regularly scheduled blood tests to monitor her lactate and pyruvate levels.
- Mattie will be repeating her resting metabolic study in 5 weeks and then again yearly.
- She needs to avoid over-exertion.
- They would like her to continue speech, occupational, and physical therapy long term.
- We have to get her drinking more fluids. If she is ill we will have to consider IV fluids.
- She needs to avoid bacterial and viral illnesses.
- We will finally be getting that new wheel chair I have been putting off.
They have given us information to pass along to all of her physicians and therapists. She now has restrictions placed on her as far as medications she can take, anesthesia that can be used, and physical activity. Any problems with illness and physical exertion are associated with worsening in her neurological status. She will also need to be followed by an ophthalmologIST and cardiologIST. The docs will have us doing the mito follow up with the folks at Medical Neurogenetics and with her NeurologISt . I think we now see just about every kind of IST they have.
My mind is mush and that is all I can think of at the moment. Feel free to ask questions. Thank you to everyone for all of your prayers and support. It means a lot to know that you all are praying for us.