This is my favorite photo of my son. He is about six months old in it. My son was born with Freeman Sheldon Syndrome, a very rare gene mutation that really only one person in the world knows much about and of course being me I found him and went to talk with him about it.
My son had a gene mutate during conception that caused him to not code for small muscle groups at around 19 weeks after conception. He has Classic Freeman Sheldon Syndrome and there are two other subtypes that appear to have similar symptoms but that they now know are not the same.
All the children who have FSS look similar in the same way that people who have Downs look similar. You will probably only see one person in your lifetime though with FSS so noticing that similarity in them all probably won’t happen for you.
It is a syndrome that has existed for as long as we have been keeping track of mankind. It is no respecter of race or sex, and we are fairly certain that a totem in the Northeast United States is of a Native American woman who had it and she was known as the Wild Woman of the Woods and was a spiritual leader from what we can tell.
I love this photo because my son at this point was not able to move much for himself but he forgot to be bummed out about it all. His noodle works just fine. He was often frustrated about not being able to get where he wanted to go, and I was in constant demand to be his mobility because he would let me know when he wanted to go somewhere. At seven months he started calling me “Mo”. It was as much as he could spit out and he had to find a way to get my direct attention and not be ignored or overlooked.
His mouth is very small because that is also missing muscles groups. I still nursed him and he developed his large facial muscles much more quickly then, but he fatigued quickly also. My first fight pertaining to Josh was in the hospital with a maternity nurse who got so pissed because I refused to bottle feed him and kept insisting that we work on nursing. Very angry she was spitting and sputtering and said, “Can’t you see that his mouth is different?” I told her that yes, I saw that his mouth was different but I didn’t see how that immediately disqualified him from nursing, and it didn’t.
Two months later when he was formally diagnosed the geneticist was hugely surprised that Josh nursed, but hey let’s not fix something that isn’t broken. How in the world did these people think that the Wild Woman had made it though. There weren’t feeding tubes back then for Crying Out Loud. Later we would find out that most babies with FSS aspirate and get a lot of respiratory infections but Josh didn’t because aspirated breast milk does NOTHING! Too many respiratory infections would have got him excluded from receiving the titanium rib also, and that has saved his life because his scoliosis was progressing so rapidly it was going to kill him.
His feet are very clubbed. This photo was taken in between soft castings. He was soft casted fresh every two weeks and babies are kind of like rubber bands, they can flex and bend all sorts of ways. So his ortho surgeon would grab his little foot and straighten it out and cast it that way. I took the casts off one day out of 14 and gave him a bath to get all the yucky skin off and then we would go back the day after for more casts. His bones developed in the proper shapes that way.
His feet looked like little putters so my husband did hang onto his hands and use him to putt golf balls around the house. You know guys, they have to make a joke out of everything. At ten months his ortho surgeon performed his first foot surgery to bring his feet to the plantar position and he will need to have another one this coming summer. We try to limit the surgeries because as he grows his feet attempt to club. The fewer surgeries done while growing the better condition his feet will be in for that final surgery at around 15. He walks on his tip toes right now though, he even runs on his damn tip toes.
He walked when he was two instead of one, and you would have thought that the family had won the lottery or something back then for about two months. He had four years of speech therapy and has the vocabulary of around a seven year old now. He is able to compensate for all of his sounds.
His hands when he was a baby had to be massaged open until his large muscle groups got strong enough to take over and keep his hands open. He had three years of occupational therapy for that, and now video game controllers do more work that any O.T. could. He has developed hand control and compensation at a scary level of accuracy.
It has been a long road with the Joshman. When he was born I used to think to myself that I would be lucky to survive it all, but I did and now I even march in Washington against the biggest criminals I have ever had the displeasure to have running my nation.
I keep this photo on my refrigerator because I must remember to always forget to be bummed, even when things in the future look like they may be difficult. So what! So they will be difficult, not impossible……and we will always find time for sunshine and love on the way. Let’s Roll!