Thursday, May 26, 2011


First, yesterday was another terrible day. I know it seems like I have a lot of sucky days, which I do, but I also have a lot of good days. Yesterday sucked bad. Harvey was being a beast of a 20 month old and I was stressed about Edward. He had gotten new casts on Tuesday and I was trying to keep them dry. That lasted a day. He has a bad rub spot on his inner thigh and I was worried he was in pain from the new moisture and constant rubbing. So in effort to relieve him, I undid half of his cast. Not smart. I went down too far and realized that he needed to be recast. Before all this happened, I was in desperate need of coffee so I packed up both kids and went to Starbucks. Did. Not. Go. Well. Then, I had my six week check-up. By the time I got home from my appointment, around 5 p.m., I had a slight body tremor from stress. Thankfully, my friend had brought us a meal. I am talking a legit meal; beginning, middle, end! It was soo good. Thanks Ali!
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!
If anybody has any questions or comments or wants to correct me, please ask! I will try, to the best of my knowledge, answer.


  1. God will shape you to be the mom that is best for your family. You are already doing a wonderful job. You just need a starbucks next door to your house. Praying.

  2. Your son is adorable! I found your blog thru AMC Support. I have 2 children with AMC - Escobar Syndrome. They both have A LOT of the same features as your little fact, doctors first thought they may have FSS as well, but tests proved otherwise. He will amaze you and teach you so many things! They are true blessings!