Gifted Issues Discussion homepage Forums Twice Exceptional Marfans and connective tissue disorders

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.

I am so glad you got a diagnosis Lori. It's so hard to explain the limitations of a connective tissue disorder to - my kid CAN walk, run, jump, dance... They just can't do it for long. And no they don't "just need to toughen up" and do not "just need to work at getting fitter"... Aargh.

Sadly, mothers, in particular, have to do this all the time.

In my experience Marfan's is generally not something that doctors are going to look for. I've only had a couple of cases where that was an issue.

Is it connected in any way to the appearance scoliosis?

One mother who my wife is friends with only got a diagnosis of cystic fibrosis when her son was about 8. And she had been taking him to pediatric hospitals for years.

There's a ton of misdiagnosis and missed diagnoses out there in the medical field.

Hemochromatosis (overabsorbtion of iron) is another one that's missed. I had one of those cases last week.

One condition for which the old medieval treatment of periodic bloodletting is an excellent treatment.

There is a genetic test for Marfan's disease which is almost 100% sensitive. Has your son gotten that? There are many connective tissue diseases besides Marfan's.
Marfan's does not cause low muscle tone. Patients with Marfan's should be followed by a cardiologist.

This strikes me as particularly important information.

Yes, he had the test. When he tested positive for Marfan's they tested me even though I had very few symptoms, no hypermobile joints, no scoliosis, no pain except for migraines. There are people with Marfan's that have low muscle tone. His doctor said a connective tissue disorder could be the cause of all of his symptoms including the hypotonia and she tested him for Ehlers Danlos and Marfan's. When test results came back we were told that it was a mutation on the FBN1 gene, but one they had not seen before. I need to see a cardiologist but there isn't time to see one before my son's surgery next week. I am going to do my best to stay calm during the five days I will stay with my son in the hospital. I remember the old expression "don't blow a gasket" and thinking I could almost literally blow a gasket if I have a dilated aorta and my blood pressure goes up and stays up really high. I have white coat anxiety. I am sensitive to sounds and smells when I have migraines. I am extremely sensitive to seeing my child in pain. I have tried to prepare myself mentally and physically. I have worked out every day, lost 10 pounds, and have been eating a heart healthy diet since I found out that my son would have to have surgery. This is going to be the most challenging thing we have ever had to face.

It's so hard Lori, you've both been through so much already.

DH's cousins have Marfans. They are very tall. The main concern seems to be heart problems. However, there may not be any issue with the heart or at least not until much later in life.

I was just looking at the very first poem my son ever wrote. He is homeschooled but I sent him to one co-op class when he was 12. The assignment was to write a poem to go along with music of his choice. He chose a tune from some anime and I don't remember what it was, but he wrote this while he was wearing a painful scoliosis brace, knowing that he would have to wear it for years, feeling like he was stuck here in a sports obsessed town where he couldn't fit in because there were no other kids like him both physically and mentally, feeling judged instead of supported by some family members and very isolated. He begged to move away from here but we couldn't.


Sky shades changed from blue to gray,
as I walked a path of slow decay
I often thought of reasons I could not stay

A long way to go, but I hope and I pray
as I slowly tire like an animal caught on a tangled wire

Thinking it best to stop and rest, I made my bed by the flickering fire
I was distraught, but I had a thought that I should try another way
I couldn't sleep, I had to get there without delay

So I marched and I marched
Closer and closer I walked

To the place of my dreams


My son is not there yet. I hope and I pray that his surgery will go well and he will live with less pain and he can sleep at night. I have sometimes felt like that "animal caught in a tangled wire" because we kept trying for such a long time with no results and we were dealing with not just an education bureaucracy but also the "tangled wire" of the medical care bureaucracy.

Lori I admire your persistance as a mother. You're doing good.