Rachel Nielsen: Still Undiagnosed but we received some answers!

October 21, 2016 8:20 pm No Comments 8

Another update! (You guys are probably sick of me by nowπŸ˜…πŸ˜‰πŸ™ˆ) I recently got some results back from a muscle biopsy in Wisconsin and I saw a geneticist on Monday who confirmed a lot of the testing and gave us some more possible diagnoses. In my biopsy, they found that I have Mitochondrial Depletion Syndrome complex 4, or for short, Mitochondrial disease. They also found that I have axonal nerve damage/neuropathy and an abnormally high amount of mast cells. The geneticist also suspects that I have hEDS (hyper mobile Ehler’s Danlos syndrome) and wants to do further genetic testing by looking directly into my genes which can be a long and tedious process. I explain, to the best of my ability, what all of that means in my video! I am not a doctor, this is just what my understanding of the diseases are. Thank you for the continued support and prayer!πŸ’ I love you guys!!!😘 These diagnoses mean a lot to me because they basically explain why I’ve had problems my entire life and I cannot tell you how good it feels to have answers after 17 years of guessing!πŸŽ‰ They may not be great answers, but at least now we know why which can hopefully lead to better treatment!☺️

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