My son was only able to get a referral to a geneticist when I wouldn't agree to scoliosis surgery without him being checked for an underlying condition. He is 15. He had been previously diagnosed with developmental coordination disorder by a neuropsychologist who tested him all in one day even though he was getting a migraine and even though we had tried to get testing done over more than one day because of his endurance issues. He was tested because I wanted documentation of his handwriting disability just in case he ever needed accommodations for academic testing. When I told the neuropsychologist that some of the test results didn't make sense and I didn't understand how he could act in musical theater and learn and do dances with half as much practice (because of the endurance issues) if he had a "coordination" disorder she told me that people can have "splinter skills" and she would not listen to anything else I had to say. That is the kind of "in-network" or in other words the less expensive, clueless doctors we had to see.
We have homeschooled since my son finished kindergarten because he was reading at a 5th grade level but the teacher thought he should be held back because he wouldn't color in the lines and had trouble with fine motor skills. He could not get OT or accommodations because he was not failing, but instead academically advanced.
My son could write legibly for about five minutes but his hands would hurt and writing would become sloppy and he would just refuse to write any more. That never changed, even though he took piano lessons to strengthen his fingers and used squeeze balls to develop muscles. He learned to type and he taught himself to use the DVORAK keyboard layout which he says is easier on his hands.
We had to have referrals to see specialists. When I was able to get them and it was hard, we were sent to "in network" specialists who didn't notice any of the signs of connective tissue disorder. I even gave a list of my son's symptoms to an in-network neurologist a few years ago. That list contained plenty of red flags for a CTD, including scoliosis. He noticed my son's hands but said they reminded him of his chiari patients and sent my son to have an MRI. My son doesn't technically have a chiari but he said it was close and he believed that to be the cause of my son's mild hypotonia and fine motor issues and migraines. Another neurologist, a non-network doctor, disagreed. She immediately saw the signs of a CTD.
With our insurance, we could only see non-network doctors after first seeing in-network doctors and dealing with misdiagnosis for years. When my son asked me why so many doctors missed this and why they wouldn't listen to us, I felt like a bad mom because I should have been able to get them to listen. When I found out through genetic testing that I had the same genetic mutation in the FBN1 gene that my son has, I felt even worse. When I learned about genetics I guess I didn't pay any attention to the possibility of "variable expression." I have very few symptoms and those few symptoms are common in the general population. I wondered for years if my son's problems were because of the medication I took for migraines when I was pregnant with him. Now I know it was nothing like that.
Because of the treatment we got from doctors who wouldn't listen, we both developed a bad case of medical anxiety and white coat syndrome and our blood pressure goes up when we have to see medical professionals. This has gotten even worse since the painful scoliosis surgery and recovery. My blood pressure goes up when I think of the years my son had to wear a very painful scoliosis brace that kept him from doing things with other kids--and I could possibly have undiagnosed heart issues that are common with Marfan. I haven't found the courage yet to get tested.
