So Gavin was diagnosed 6 months ago with Sprengel's Deformity {"Sprengel deformity is a complex anomaly that is associated with malposition and dysplasia of the scapula. This condition also involves regional muscle hypoplasia or atrophy, which causes disfigurement and limitation of shoulder movement." }. We noticed at the beach that his left shoulder seemed "off", higher than the other. After consulting our local Pediatric Orthopedist, we were sent home with an order for physical therapy and an appointment to return in a year....we would have just left it that, but....
I have been doing my research and well, this is not merely a cosmetic issue in a lot of cases. There is a range of associated problems from kidney issues to fused ribs to hearing deficiencies. We just didn't feel comfortable with having no answers or even much of an opinion. At the behest of my new boss, an orthopedic surgeon, we consulted the partner of the original physician and wow, what a difference. He was interested, knowledgeable and eager to see what we were dealing with. His partner admitted he knew little of the deformity and because it was so rare, didn't much research it or know what to do. It didn't sit well with me but, Gavin seems to do just fine and although his range of motion is inhibited, he has no pain (thank GOD!) and is a happy healthy boy aside from this issue. I appreciated Dr Shannon's time and interest and a parent's understanding that this condition seems to worsen over time and cause many other problems. He's our baby and we obviously have concerns about the long term.
After some xrays (the boy was quite the trooper!), he confirmed the Sprengel's (didn't need an xray for that!) and he saw what he felt are fused cervical vertebrae and mild scoliosis. The fused vertebrae are the result of a syndrome called Klippel-Feil {"...patients who had a short, webbed neck; decreased range of motion (ROM) in the cervical spine; and a low hairline"}. ...this and Sprengel's are both congenital abnormalities that are very rare (1 in about 40,000 births!) but seem to go hand in hand. The concern is that he would be at greater risk for cervical injury with contact sports so, if this continues to present on future scans, we need to eliminate any contact sports from Gavin's future. It's tough to have to make decisions for him in this way....I hate to keep him from anything he may potentially want or have the talent to do.
I Googled "normal toddler x-ray" and found the pic on the right. You can see the obvious elevation of the shoulder and malformation of the upper ribs.
Luckily, surgery still seems like a small consideration. His case is not severe and unless it gets worse, hopefully physical therapy and observation with xrays will be all we have to do long term. The larger concern is worsening scoliosis, cervical issues and we will be testing for another common occurrence with Klippel-Feil, kidney abnormalities. Growth seems to cause further issues and may often be inhibited by the fused vertebrae but we will cross those bridges if and when we come to them...
We're so blessed with such a happy baby....it's much easier to deal with scary things with this clown spinning in the doctor's swivel chair incessantly giggling! He is such a sweet guy I pray he doesn't have any pain or insecurity about the deformity as he gets older. I worry so much abut the future but now, in this moment, he is my sweet, happy, active boy and for that we are so very grateful!
No comments:
Post a Comment