What is Escobar Syndrome?

Ok, now that I have my thoughts together, I wanted to give everyone a brief description of what Escobar syndrome is.  So here it goes...  Escobar syndrome, also called multiple pterygium syndrome, is a form of arthrogryposis.  There is a prenatally letal type and a nonlethal type (what Reece has).  The main features of the syndrome are joint contractures and skin webbing of the neck, elbows, wrists, and knees.  Other features are scoliosis, cleft palate, undescended testicles, fusion of cervical vertebrae, short stature, and rocker bottom feet.  Sometimes, respiratory problems are involved due to scoliosis, but luckily Reece has not shown any signs of this or fusion of the cervical vertebrae.   These children have normal intelligence and sometimes are above average in intelligence.  It is an autosomal recessive genetic disorder which means that two mutations are necessary for an individual to be affected.  Typically, parents are carriers of one gene mutation and one normal copy of the gene.  A single copy of a gene mutation can be passed through a family for generations, never showing itself.  The way we understand it now (before talking to the geneticist) each one of our pregnancies will have a 25 % chance of inheriting both gene mutations and having Escobar syndrome.  However, the geneticist did say that there was something more interesting about Reece's case, so we will not know for sure until Tuesday.  Treament for the syndrome includes orthopaedic surgery, lots of physical and occupational therapy, and plastic surgery for the skin webbing.  All of this is just our understanding of the syndrome right now.  I have located three other children with this syndrome, 2 in the U.S. and one in New Zealand.  I have made contact with 2 of the families, and hopefully we will all be able to help and support each other through this.  Please include them in your prayers when you pray for Reece.  One little girl is 8 years old and the other little girl is only a couple of months older than Reece.  I wanted to give everyone somewhat of an idea of what exactly Reece has.  We've talked about bits and pieces of it on the blog, but now it's all in one post!  Right now, our little man is working on cutting a very sharp bottom tooth.  He's already putting it to use on graham crackers, and he loves it!  He's also having a ball in his jumperoo.  I think I might look up one day and see only his feet hanging from the ceiling because he can really jump in that thing!  He has started noticing Nassau a lot more, and I'm afraid Nassau is really in for it as soon as Reece starts moving around.  We have a very busy week next week.  Monday, we see Dr. Robbins for a check-up on his feet.  Tuesday morning, we will meet with Dr. Rahman, the geneticist.  Wednesday, we leave for Shreveport for our second visit to Shriners ( and Joe's Crab Shack)!  Plus, we'll squeeze therapy in twice somewhere!  So, I'm sure there will be a big update next week!  Thanks everyone for all of your kind words!  We love you!