Running For Research - PWSOrthopedic issues in PWS are common. Per the Global PWS Registry, 46% of participants age 2 and older report a spinal deformity, such as scoliosis, kyphosis (rounded/hunch back), or lordosis (sway back). Additional skeletal problems including ‘knock knees’, ‘bow legs’ and hip dysplasia occur at higher frequency in the PWS population compared to the typical population. The most common orthopedic problem is scoliosis, or curvature of the spine, reported in anywhere from 15-86% of patients in the medical literature, depending on the study.
Scoliosis emerges in Prader-Willi syndrome in two age ranges, under the age of 4 and around 10 years of age. Younger children have C-shaped scoliosis, which results from poor muscle tone. The older group has S-shaped scoliosis, typically. Children with Prader-Willi syndrome should have routine monitoring for scoliosis starting when the infant can sit independently. This monitoring includes yearly clinical visits and spine radiographs (X-rays) as needed. If the spine shows signs of abnormal bending during these screening visits, X-rays may be needed more frequently.
Treatment of scoliosis can involve casting, bracing, physical therapy, and surgery. Scoliosis that is diagnosed in an infant (up to age 3) with Prader-Willi syndrome may be successfully treated by casting the spine.
Bracing, specifically a thoracic-lumbar-sacral orthosis or TLSO, is used to treat scoliosis in children older than three years of age. The TLSO is worn for 16-20 hours per day to be effective. The time in brace is reduced over time as the patient achieves skeletal (bone) maturity or the end of growth.
If the curvature of the spine exceeds about 40 to 50°, scoliosis surgery is required. Spinal fusion is a curative option for scoliosis, but in younger children (up to 10 years of age), the surgery could permanently restrict growth of the spine and chest. Alternatively, orthopedic surgeons can use expandable implants to correct spine curvature and permit bone growth. If these options fail, however, definitive spinal fusion surgery may be needed. The implication of these skeletal problems can range from mainly cosmetic to having serious impacts on quality of life, and thus there is the need for careful monitoring and management of bone issues throughout life.
Scolosis and Spine Associates
At present, this is a topic that is particularly relevant to Clementine. Because we have always been aware of the very high rate of orthopedic issues in people with PWS, Clem has been monitored closely since birth. She is checked several times a year, every year for any early signs of curvature or any other skeletal issues.
Up until a year ago, nothing had emerged and I was feeling pretty optimistic about avoiding this set of possible problems. We have been taking measures since she was a baby to try and cut her scoliosis risk so I hoped it had worked and she would be scoliosis free. Clem has always been slim. We have always had a daily exercise routine in place that has emphasized core strength, balance, posture as well as aerobic activity.
Sadly, at around age 10, her specialist detected the beginning of a curve. We tried to keep the curve at bay by adding some new strength exercises and by changing the way she was sitting at school and at home in order to further reinforce proper posture. This worked for about 6 months and the curve held steady.
About 6 months ago, it was noticed that the curve was again beginning to increase. According to Clem’s PWS specialist, there probably wasn’t going to be anything else preventative we could do to hold the curve without some medical intervention. Clem had hit the age where scoliosis is most common and her low tone as well as her normal growth were the culprits.
We located a pediatric orthopedist here in Georgia that came highly recommended to us and has had previous experience with PWS and scoliosis. We had our first appointment a month ago and upon examining her, he told us that night bracing would be the best option for treatment. Clem’s current curve is below 20 degrees, which is usually the lower limit for bracing to begin but because she has PWS and we know that the curve will continue to worsen, we made the decision to brace early.
Clementine took the news very hard. She is usually not too emotional but when she heard that she would need a brace, she broke down in tears. She asked me why this was happening to her. Clem couldn’t understand why she was developing scoliosis, especially because she had worked so hard for so long to avoid it. She is at an age now when the differences between herself and other kids are keenly felt. Although there have been but a few instances of unkindness, the fear of being “unique” is real and deeply troubling to her.
The ortho was very kind and tried to make her feel better by telling her he could make her a pink cast that would match her hair ( he’s definitely a keeper folks!). After she heard that, she perked up and told me that she was ready to face this new challenge. Clem is the definition of resilience and her attitude stuns me into silence on a regular basis.
Despite her bravery, my heart broke a little that day. I’m not sure why this issue stings more than the others…and believe me, there have been a lot of “others” . Maybe it’s because I had deluded myself into believing it wasn’t going to be an issue for us. Maybe it’s because my sense of fairness is being stretched to its limit. Maybe because I feel all of our hard work to prevent scoliosis turned out to be worth nothing more than the sweat on my daughter’s face. Maybe it’s the sense of insult I feel when I think that life isn’t playing by same rule book for Clementine. After all, when you work so hard and follow ALL of the advice you’ve been given, shouldn’t it pay off? The unfairness of PWS and Clem’s constant life challenges can be overwhelming both for her and for me.
But one thing I know..in the end every bit of hard work, sweat, tears, expense and pain will be rewarded with a life well lived and a daughter that is well loved and loves well in return. Isn’t that all that anyone really wants?
