For the "Stonemen"
I received an email from a friend of a friend about a trial their family is going through. I had not heard of this disease, F.O.P., before. It's so very sad, and yet there is the glimmer of hope due to some new research. For the sake of the family's privacy, I have deleted all personal information. Still, if you are one who prays, I'm sure they would be more than appreciative of your intercession on their behalf. As the letter was well-written and contains good information and some useful links, I have left this missive otherwise unaltered.
Dear longtime and newfound friends,
It's with sadness and, yet, also hope that we share some troubling news with you. Our youngest child has been diagnosed with a very rare disorder - so rare, that presently, there are only about 600 known cases worldwide, though statistically, there are an estimated 2500. The condition is called F.O.P. (Fibrodysplasia Ossificans Progressiva), or "Stoneman's Disease." With F.O.P., the body's soft connective tissue inexplicably metamorphoses into newly formed “healthy” bone, typically after a bump, cut, or some other trigger. Ultimately, the F.O.P. patient becomes immobilized, encased in a secondary skeleton, and eventually succumbs at the average age of 45. Presently, there is neither treatment, nor cure for F.O.P. But, there is hope. That hope lies with you. Support and contributions from friends, family, and acquaintances help to significantly advance the research and progress, already well underway.
After 15 years of relentless work, Dr. Fred Kaplan and a team of researchers at UPenn miraculously discovered the, one in six billion, gene combination responsible for F.O.P. It made headline news in April (We discovered the news on Yahoo one fateful night, when checking email) and that's when we realized that our child had certain indicators of F.O.P. Despite having visited specialists at Hopkins periodically since birth, her condition, like almost 90% of F.O.P. patients, was not diagnosed properly; the disease is so rare, most doctors are simply not aware of it. Thankfully, she never underwent surgery to correct her skeletal abnormalities; most F.O.P. patients are not so fortunate, and the resulting damage is irreversibly ravaging.
Though F.O.P. is rare, the potential benefits of the gene discovery are HUGE! Potentially, with this ‘Skeletal Key’, researchers will discover effective ways to curtail bone growth where it’s detrimental, and stimulate bone growth where it’s required. Inhibiting bone growth would benefit F.O.P. patients, as well as patients who commonly suffer from extraneous bone growth, due to osteoarthritis, spinal cord injuries, sports' injuries, joint replacement surgeries, and wounds sustained from explosives (The Walter Reed Army Medical Center is very interested in the research currently underway, due to the number of soldiers who've survived I.E.D. blasts and are experiencing extra bone growth in their wounds). On the other hand, stimulating bone growth would greatly benefit those healing from fractures, and those with degenerative bone conditions, such as osteoporosis. Lastly, directing bone growth may one day help victims of traumatic accidents re-grow portions of missing or irreparably damaged bones.
The discovery of the skeletal gene was monumental for the F.O.P. community, providing a stunning ray of hope for a possible treatment, and perhaps, one day, a cure. However, there exists, at best, another 5 to 10 years of intense research, development and testing, before a treatment for F.O.P. may be available. The researchers are currently exploring three avenues of potential treatment: (1) an antibody, to help the body’s immune system respond appropriately to bumps & cuts; (2) a statin drug, to inhibit protein receptors from receiving the mutant gene's demands to make more bone, and (3) RNAi technology, to 'interfere' with the mutant gene's ability to transmit its errant message in the first place. Dr. Kaplan and his team of researchers are fully committed themselves to finding a treatment, and one day, a cure for F.O.P., but none of it will be possible without increased funding and collaborating partners. I should also note that Dr. Kaplan does not charge F.O.P. patients a single dime!
Please, if you feel led to learn more about F.O.P. and want to help kids like our child, you can do the following:
- Read some recent articles:
- Newsweek’s "15 People who make America Great," highlighting Dr. Kaplan's commitment to F.O.P. patients. He truly is remarkable...
- ABC News Primetime's: "When Body Turns to Bone"
- NIH (National Institute of Health) Spotlight on Research:
- Donate to, or join IFOPA
- Pray, Pray, Pray, Pray
- That our child's F.O.P. would progress very slowly, and that she would continue to enjoy her childhood years, and beyond.
- That God shows us how we're to help our child, and others like her.
- That pharmaceutical firms would partner with F.O.P researchers to develop a treatment, and ultimately, a cure.
- That one day, F.O.P. patients can have their extra bone surgically removed, without fear of it aggressively growing back.