A long time comming.....

I probably should have started this blog 6 months ago, but better late than never!

Here goes:

First a little information about us. We are an active duty Navy family living in Hawaii, stationed at Pearl Harbor. Half a planet away from family and most of our friends. We have a whip smart 2 1/2 year old girl, Morwenna and 2 bernese mountain dogs Jesse and Annabella (our 4 footed daughters!).

We found out about Robyn's Happy Feet at our 20week "routine" ultrasound. Because she had several things going on, feet, hands, possibly facial and cranial. We opted for an amniocentisis to find out if she had any of the big scary syndromes that have life expectancy issues tied to them. It was needless to say a very very emotional 2 weeks waiting for the results to come back. While we were waiting we were also preparing for Papa's IA deployment to Afganistan. We got the "all clear" results back from the Maternal Fetal Medicine Dr at the Hospital (Tripler Army Medical Center) 2 days before we went to the airport to say goodbye.

Fast foward to May when Robyn made her extremely fast entry into the world (3 hours from first major contraction to babe in arms!) and we discovered she had more issues than we thought. She spent 12 hours in teh NICU for breathing trouble, but was fine once she came out. She had a hard time nursing, but I was determined to get her to nurse! (More on our nursing journey later) We had her tested again for any genetic issues as there were obviously some and discovered she had an extremely rare genetic condition called Sheldon Hall Syndrome. It is a variant of Freeman Sheldon Syndrome. I had made an appointment with our Pediatric Orthopedic Dr (Dr Jefferson Jex) right after our 20 week ultrasound to discuss the treatment of clubfoot. The Army then sent Dr Jex on deployment! Luckily, he was newly back from being deployed just before Robyn was born.

Sheldon Hall Syndrome is an extremely rare genetic condition that presents with all muscles and tendons being very short resulting in many constrictures in the limbs. In Robyn's case this means her feet, her right knee, her hands, her neck and her sacrum. About 50% of all SHS children loose thier hearing by school age and about 75% end up with operable scoliosis. All have clubfeet in some degree and most have hand constrictures too. The other syndrome is Freeman Sheldon Syndrome (also called "WHistling Face" Syndrome has many more facial constrictures as well, requiring face surgery. Robyn had some facial issues that have since mostly resolved as she has gotten bigger. Her palate will always be an issue, it is very high and uneaven. We will find out as she gets to talking if we need to have speech therapy to work on her voice.)

                                          (Robyn at 4 days old)


Robyn met Dr Jex at 4 days old. She was beautiful! Dr Jex took one look and feel of her feet and said "She has Freeman Sheldon Syndrome". (He was more or less right and the first person to put a name to her syndrome) He put her in her first set of cast that day. Dr Jex uses the Ponseti method of positional manipulation and casting to refomr the feet. Most "normal" club foot kids go through 6 casts max then into boots and bar. Robyn to date (11/27/10) has had 29 casts and we are expecting to have her in casts until she is a year old at least. Then she will go into boots and bar until she is 5 years old minimum.

SHS makes it extremely difficult to correct the feet. She had a bilateral tenotony a few weeks ago which moved her feet into the next major position.

(Robyn post cast 28. Note the hand braces as well which are helping to stretch her thumbs out from her palms and force her to move her fingers.)

I'll now work on keeping up with this blog to let everyone know how she is doing and what we are up to next!

~Amy and Robyn