Today is a good day! I got a little sleep last night and we got Edward's leg recast this morning. So now I have enough in me to talk about the results from our genetics appointment on Monday. Here I go.
Edward has Freeman Sheldon Syndrome. It is a super rare genetic disorder. It is the most severe form of distal arthrogryposis. It is a sporadic mutation of the gene MYH3. (Embryonic myosin heavy chain 3 is the technical name. To simplify, it is the gene that is important for making your muscles tense or contract.) There is a lot they don't know about how this gene mutation may cause other features of FSS. To me, it is utterly bizarre how one tiny random mutation can cause such a mess! FSS kids have facial features that are pretty distinct. When we were at Children's, a geneticists gave one look at Edward and said, "yes, he has Freeman Sheldon Syndrome," with this smirk on his face. (He is one of the main doctors/researchers of FSS and has written papers on the disorder. So he was delighted in seeing another baby with FSS.) The facial features Edward has are a wide nasal bridge, long philtrum, deep-set eyes, prominent forehead, chin dimple, and a small mouth. He also has a high-arched palate, a small tongue, and retrognathia. Again, he has flexed wrists, severe club feet, dislocated hips, short neck, spine issues, and lack of full range of motion in his shoulders. We are blessed that he is feeding with the bottle because feeding can be a huge obstacle for FSS kids. Edward will face a lot of difficulties in therapy and surgery. Most likely, Lord willing, he will be cognitively perfect. Most doctors I have met say that FSS kids are the smartest, most easy going, determined kids that they have ever met. Edward will find a way to do the things he wants to do.
I am excited to see the boy he will become! I just pray that I can be the mom that he needs. I think that is my biggest...I don't know, challenge. I don't know how to be the mom that will shape him to be the man I want/hope he becomes. I hope that makes sense. This whole thing is new to me.
|Absolutely the sweetest face I have ever seen!|