Kambry pictures!

 

 

Update on Kambry

 

We have a video of Kambry showing her playing and speaking with her sweet little voice! And with all these pictures it is safe to say that her body works well! Besides what looks like clubfeet and possible curved fingers on the right hand, her contractures don't seem to affect her much at all! (She makes it to AMC status barely, with at least three contractures in at least two areas of the body--clubfeet and fingers on one hand.) Just watching her wave bye-bye in the video or hold her baby doll shows she has excellent muscle control and function. She has plenty of muscle for an AMCer! And she is wonderfully cheerful!

 

She has Freeman Sheldon syndrome (or whistling face syndrome), a rare type of AMC, but besides the clear facial markers, the rest of her body is relatively typical. At least what we can tell!

 

This is a very good prognosis!

 

Let's help her get a family!

 

 

 

 

Our focus for November: Kambry!

Meet Kambry!

 

There are over 400 types of arthrogryposis and Kambry has one rare type called Freeman Sheldon Syndrome.

 

(Dr. Hall says, "You must remember that arthrogryposis is a symptom, not a diagnosis. There are over 400 diagnoses that can cause AMC." So when you know the diagnosis you can treat effectively!)

 

To quote the arthrogryposis atlas:

 

"Freeman Sheldon Syndrome:

This is also called cranio-carpo-tarsal dysplasia, or whistling face syndrome. It

is a rare, autosomal dominant disorder with classic facial features of a pursed

mouth, deep-set eyes, and a small nose. Intelligence is normal. The infant is

often seen because of foot and hand deformities, including flexed, ulnar

deviation of fingers, clubfeet, or vertical tali. There may also be dislocated

hips and scoliosis and small stature."

 

 

Kambry is doing really well. She's up and about and it looks like she's walking on her clubfeet, although it mentions she has had them surgically corrected and maybe that's not evidenced by the picture. It looks like she would need ankle braces known as AFOs or possible future casting to straighten them out more. But overall I would not expect Kambry to need as many surgeries as the more common types of AMC. She has good-looking muscles (a coveted attribute in the AMC community) and based on the position of her upper body, it doesn't appear that her shoulders, elbows or hands are affected at all. It's hard to tell from this picture, but it doesn't seem that her hips are affected either.

One of the biggest things to remember about Freeman Sheldon syndrome is that it has very specific and easy-to-diagnose facial characteristics (aka the whistling face). But these are often confused with fetal alcohol syndrome to those unfamiliar with the specific characteristics of both conditions. This has scared some potential parents away, as many are told that fetal alcohol syndrome comes with "distinct facial characteristics." From her picture, all of Kambry's facial characteristics are purely due to her AMC type. Freeman Sheldon syndrome does not have intellectual disabilities or behavioral issues associated with it.

If you are interested in Kambry you can contact Reece's Rainbow by going here.