My son was only recently diagnosed with a connective tissue disorder and only because he needs surgery and the surgeon listened to me when I told him we had never been given a good explanation for my son's low muscle tone. He had been diagnosed earlier with developmental coordination disorder/dyspraxia and while there were some things in common, my son was not uncoordinated. His balance was excellent, even with scoliosis (his curves were balanced). He has danced in his musical theater group since he was four years old. There wasn't really a "motor learning" disability except that he only got to physically practice the dances half as much as other kids because he had to sit out and rest. My son kept saying that not being able to practice as much made it harder for him to develop muscle memory as fast as the other kids, but he always learned the dances in time to do the shows. His hands hurt after five minutes of coloring or handwriting. He did exercises. Didn't help. But he could type really fast. He can type notes on his iPhone at 90 something wpm. He found a test for this. That is faster than I could take shorthand years ago.
The geneticist said that every one of his symptoms could be caused by a connective tissue disorder. I was shocked to find out that I have it also. Because of "variable expression" I don't have many symptoms. Neither one of us looks like the typical person with Marfans. My son is tall, but not extremely tall. He will probably be just over 6 ft. tall when he has surgery next week. I am only 5'6 1/2" and don't have any hypermobile joints. I don't have chronic pain except for frequent migraines. We both get those with weather changes.
Unfortunately it is not unusual for doctors to not diagnose this until it is too late. Young people sometimes die from aortic dissection when they push themselves physically. It has happened to athletes with the condition. Very smart, talented people have died from it because they didn't know they had it.
And people have told me for years that I should get therapy for my anxiety and stop looking for answers and just accept whatever the doctors tell us. It was the same with the education issues.
I feel lucky to have the anxiety and my gut feeling that something wasn't right about the things I was told by experts.
