Going to start posting again!

Ok, so between Doc getting home from Afganistan, our trip to Shriner's in Philadelphia for February, then the move to Washington DC in April, I have been pretty swamped! Now that we are finally settled in DC I am going to catch up on my blogging.

Robyn turned 1 on May 8th. 1 week earlier she was taken out of her last set of casts and got her new AFO (ankle foot orthotics) to go home in! Yep, I cried. And yes, for her birthday I did take them off and wrap them up with a little bow. I'm a sap.

She has been going great gangbusters ever since! Just this week she figured out how to get up on her toes while leaning over the edge of the toy box to grab toys in the bottom. She started crawling in earnest in April! While I know she won't be walking until we can get her knees straightened out around her 4th birthday, she is not letting anything hold her back!

She is getting better use of her hands, though I think we are probably at the most she is going to get until she has the surgery to move her thumbs out from her palms around her 2nd birthday.

Not too shabby for a girl who couldn't open her hands at all for the first 6 months of her life!

Our next "Second opinion"

Ok, now taht the girls are napping I can fill everyone in. We are just so lucky to be here with 2 awsome Dr's who are extremely knowledgable and well trained. We get a "second" opinion on Robyn's care about every other month when Dr Cuenca takes over for Dr Jex while he is off somewhere else. Of course now that she is being deployed that will stop for a while, but it was great to have it. If we are still here when she gets back then she'll continue to be our back-up Dr.

Anyway. She did x-rays today to see how the bones in Robyn's feet look. Until now it really hasn't been an option since they were so small and still in progress there was basically nothing to see. Well, the left foot is really well corrected and ready for boots and bar, but because the right is so far behind she has to have a place holding cast until the right catches up. So, left is good! Right on the other hand is a mess. Still. As far as she can see her heel bone is not fused, but it is completely vertical still (it is supposed to be horizontal). The tenotony we did a month ago basically didn't help much at all. It wasn't a waste of time, but with her SHS the tendon just didn't lengthen like it was supposed to. She has extremely complet foot on the right.

Dr Cuenca thinks we have basically exhausted everything the casting is going to do at this point. She is going to talk to Dr Jex about doing a more major surgery in the next month or so. This surgery will realign bones, move and reattach tendons and basically rebuild her foot. Once that is done she will go into casts for another month for it to heal then into boots and bar with extensive physical therapy. She thinks we might get into boots and bar around her birthday (Wouldn't that be an awsome birthday present?)

She agrees with our assesment to try to get Robyn and I out to Philadelphia to see Dr Van Bosse as soon as possible. If we do go, it would be Robyn and I, Frank and 'Wenna would have to stay here (unless Frank can get a bit of leave and we would do a little mini vacation for the first few days, then they would come home and we would stay). I have no idea how long we would need to be in Philly or any idea when we would be going. All of that will be determined after Dr Jex gets back.

There were 2 new Residents and a visiting Dr that all came to see Robyn today. Dr C asked me if they could see her and look at her films. I told her "They will never have the chance to be up close and personal to another case quite this unique again. Please, teach away!" I am of the mind that as long as the students are respectful, they need every chance to see everything they can. And Robyn is really one unique case.

Next we will move on to her knee which is not fused but has severe muscle and tendon constrictures. At this point her knee doesn't straighten beyond 90 degrees. So when we do the PT for her feet we will also do the PT for her knee. But that is for later.

 

 

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