I have late onset hereditary dystal myopathy. A doctor wrote an article on my uncle and father after he did their autopsies in 1974. The article was brought to my attention in the mis 90's. It was recommended that I had a muscle biopsy even though I didn't have symptoms yet.
I had the biopsy at Strong Memorial Hospital in Rochester, New York and found out I did have the disease. This allowed me to gradually prepare for my future.

I was born waek ,I was a floppy baby. They thought I had polio. After my
last child I was in a lot of pain,in my hip,went to a neurologist who
referred meme to muscular dystrophy,dept in Miami,a biopsy of muscle was
preformed and it came back as Nemaline Myopithy without the rods.

My son had been diagnosed with adhd and level 2 autism and thru his routine lab work we found way elevated level that cause for his neurologist to order a genetic test to help find out the cause for his issues

She is 40 now and still perfect

My pregnancy was an absolute disaster. Thankfully I had a brilliant OB and my daughter was perfect. His records lead to my DX. He also told me to plz not have anymore as I caused him to go bald... I actually didn't have any more