Freeman-Sheldon Syndrome: An Interview with the Mom of a Teen with FSS

T: B.’s hands drift to the outside, low muscle tone in his upper body, a small mouth, smaller than normal airways [which affect his breathing], a short neck…he had bilateral club feet. There are things about his face which are typical of FSS - for example, he has eyes that slant down, not up at the corners, he has an H-shaped dimple on his chin, there is [a longer distance from] his nostrils and where they are in relation to his mouth. The joints don't seem to be in all the right places, exactly - his hands don't bend exactly the way mine do. He can’t hold things, and whether this is because his hands are weak, or because they are deformed, or both, couldn't tell you. There does not seem to be any accompanying retardation with FSS in general. I was told the people with FSS who have retardation tend to have had anoxia [oxygen deprivation] at birth on top of their syndrome. B has normal or above average intelligence.

T: I was told "This gets a little better as time goes on," and "He will walk late." But a year ago I asked his doctor if he thought when B. was a baby that B. would survive. He told me "Well, he has a very good family." I think that meant no, he didn't expect this good an outcome – but I have to give them credit - they never said that. Then again, they may have been afraid to. I was very clearly fighting for his life.

Either my son is a very extreme case, or he has the wrong diagnosis, but if it is wrong then what he has is even rarer, and they probably know nothing about it at all.

T: Because of the muscle weakness, B. is dependent in every single aspect of daily living activities. So it is hard to pick one thing that affects him most. I worry. I worry about being unable to pick him up - who will take care of him when I am ninety? But I also live in hope. Because things are being discovered every day, and he is only seventeen. If we can get him an interface that works for him, so that he can use the computer... If he could feed himself...that would be great. A lot of people who have this have bigger problems with their mouths being tiny - like, they need operations to make their mouths big enough so they can be spoon fed. But they may be much less affected in other areas.

It is really a whole different world, being the mother of a relatively normative child, or being B.'s mom.

T: This probably applies more to people with his level of disability than people with his diagnosis, most of who can speak, but he wants people to talk to him, not me, and to ask questions. He is not me.

Because he has this apnea problem, he has never been able to go to school, and that bothers him a lot. His teachers and therapists see him at home right now. He wishes he could have friends, but I am not at all sure he would have many friends at school because he is still going to be very limited, as he can't initiate much conversation, and the more able kids probably want to be more on the move. He can [communicate] - his eye gestures, things like that.

B. is currently using a communication device and recently was able to have a phone conversation with his grandmother by using it, but it is still very limiting.

He would LOVE to be able to speak and ask questions. And that would be nice for me too.