Diagnoses you've seen?

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What are some of the diagnoses of your past or present clients? Some of the ones I've seen- 6q Deletion Syndrome, Pseudoparahypothyroidism, Lissencephaly, Spinal Muscular Atrophy, Duchenne's MD, Mitochondrial Disease, Rett Syndrome, & Tracheomalacia.

I don't really know a lot about it. There's not a lot out there on the internet. The little girl was 3 and healthy then she started rapidly gaining weight as well as having a lot of temperature instability and asthma like symptoms. Her weight gain continued and her symptoms progressed to where she had autonomic storm disorder and she was having severe apnea while sleeping. She was trached but as her symptoms progressed, she ended up being vented 24/7 by the time she was 6. She was very cute but very round. Her face was so fat her eyes were squished almost closed. On top of all the symptoms directly related to the respiratory and autonomic disorders, her weight caused immense mobility problems as well as difficulty in care for her mother and nurse. The mom had a blog, which was the best source of info, but I haven't been able to find it for a long time. There is no cure and it's a progressive disease.

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