The Story Board

Connections and resources for infantile scoliosis as well as Distal Arthrogryposis

Submitted by: Karen Bouye

I am not quite sure where to begin, but the easiest way to explain our family is genetics. When we had our first daughter (Summer) on June 30, 1999, we learned that she had a medical disorder called Distal Arthrogryposis. It took several days for the Doctor's (General Practitioner, Orthopaedist, Genetic Specialist, Neonatoligist and therapists) to come to this conclusion. As it turns out, myself and my twin sister were born with similar birth defects. We had our birth records pulled to determine all of this, but 30 years prior, there was no diagnosis for this disorder.

Then in 2005, we found out that we were pregnant again. We had been told that we had a 50% chance of having another child with the same genetics. A month or so before this baby was due, I contacted Baby Net and that is where I was eventually linked to Family Connection. Even though I have not been to a meeting yet, I have read all the newsletters and hope to one day join in on the fun. I think once Savannah gets more mobile and I can become a stay at home mom, this will open a lot more time for me to spend with the wonderful people from this organization.

On December 13th, 2005, our next little girl that born with the same issues, but had even more going on. She was born at 36.5 weeks gestation and had a hyper-extended left leg, infantile scoliosis, and dislocated hips. Not to mention the torticolis and rocker bottom feet, but that comes along with the Distal Arthrogryposis.

Our youngest, Savannah, has been through 7 surgeries. Her last surgery was on 7/15/09. She is such a trooper. Her feet and leg have been corrected and we are still working on her back. She is the second child in S.C. to receive the VEPTR device, in her back. VEPTR stands for Vertical Expandable Prosthetic Titanium Rib. The difference in this device is that it is not connected to the spine, but instead to the ribs, further from the spine. It has been a God send for her and us. She is doing wonderful.

If I can help anyone that finds themselves with this rare diagnosis of Distal Arthrogryposis, I would love to. Also, I have many connections and resources for infantile scoliosis as well as Distal Arthrogryposis.