Jan 12, 2021 Latest post:
Jan 22, 2021
September 18, 2018 started a journey down a road we were not expecting. Mabel, our youngest daughter had a series of seizure like events that day at our Co-op and was not able to talk or walk. I rushed her to Children's Hospital of Michigan in Detroit and the rest is history. She was admitted and diagnosed with ptosis in one eye, high CK levels, hypotonia, global developmental delay, ataxia, muscle weakness and c-reactive levels were off. She had a stat MRI and we immediately saw the neurogenetics team. We went through testing of every possible terrifiyng diagnoses from Pompe disease to Frederick's Ataxia and through all of the atophys and most well known dystrophies. They tested for mitochondrial issues and vitiman deficiencies with no significant issues. She was finally tested for neuromuscular diseases. We were blessed because that one test for SMA also included 150 other neuromuscular diseases for free. That is the panel we found 2 variants of unknown significance. They ran the big Whole Excome genetic panel to see who it came from and it came back with evidence towards me. CHRNA1 and SEPN1. Both neuromuscular. We were then invited by our neuro to be followed by the MDA Clinic. In all of this Mabel was falling every day and taking 4-5 hour naps and most of the time not waking up for dinner. She had muscle weakness consistently in her hips, legs, ankles, hands, eye and jaw. She was put in OT, PT and Speech. They immediately found she had pronations in both ankles and then she got her first pair of AFO's. The doctor ordered an EMG to see in fact if her muscles declined under stimulation and yes they did. The EMG was positive and she was immediately diagnosed with Congenital Myasthenic Syndrome making the variant of unknown significance indeed significant. She was prescribed medicine, (mestinon) to see if muscle function would return. During that test the doctor noticed something in Mabel enough so to order another test for a sleep study. That study changed Mabels life for the good. It turns out that CMS has breathing apnea components to it. She was later diagnosed with severe sleep apnea and had her tonsils and adnoids removed in hopes that would resolve the problem but in fact they found it was the fatigue from CMS that was causing the apnea. She now has a cpap/bipap machine for sleeping. We are so incredibly thankful for her breathing machine. She has been doing amazing on it and has physically improved quite a bit!