Desember 31, 2016
the condition is known as fibrodysplasia ossificansprogressiva (fop) or “stone man syndromeâ€. it affects an estimated 1 out of every 2 millionpeople beginning when they are children, and to date there is no cure. the telltale sign of someone with this conditionis a small big toe that is abnormally formed, often pointing at an odd angle. as the baby grows into a child, they typicallywill start developing very painful nodules around their back, head, neck, and shoulders,generally triggered when the babies or children fall or otherwise bump into something. these nodules will eventually turn to bone,but because this condition is so rare, the
condition is misdiagnosed about 80% of thetime. generally most doctor’s first think thenodules are cancerous and biopsies are usually performed, as well as radiation treatmentand other surgeries, such as the case with ashley kurpiel, who was diagnosed with cancerand had her arm amputated at her shoulder when she was just three years old, even thoughshe really just had fop. besides potential amputations when they weren’tnecessary, these surgeries will make the condition itself worse. fop flare-ups are triggered by trauma to muscles,even just tripping and falling as kids do all the time, is sufficient to trigger a flare-upthat will result in the development of bone
on their muscles and connective tissues. in addition to muscle trauma, things likegetting the common cold or flu can also cause flare-ups. even if the condition is correctly diagnosed,there’s little that can be done to help alleviate the problem as surgery is not anoption and there is no cure, as noted. as the person with fop ages, slowly theirability to move is taken away from them, “entombing a patient in a skeleton of heterotopic boneâ€. “even seemingly minor things like preschoolimmunizations, injections for dental work, [or] minor bumps and bruises from fallingoff a bicycle, can cause these children to
lock up their jaw, lock up their joints thatnever move again,†says dr. fred kaplan, known as “uncle fred†within the fop community,one of the few doctors who has dedicated his life to finding a cure for fop. as he states, “my lifelong goal since i’vestarted working on fop is not just to modify the symptoms but to change the course of thedisease. and eventually stop it.†in the extreme case, such as fop suffererhenry eastlack, they lose the ability to move at all. in his final days, shortly before his 40thbirthday, henry’s ability to “moveâ€
was limited to moving his lips slightly, eyes,and tongue. but even before this happens, the conditioncan become extremely debilitating, even life threatening. for instance, by the age of 17, tiffany linkerfrom north carolina, had to start wearing an oxygen mask as extra bone developed aroundher rib cage, constricting her ability to expand her lungs. tiffany was the first of now over 500 childrenand adults (of the known 700+ cases) dr. kaplan has treated for fop. tiffany had previously undergone numeroussurgeries and chemotherapy for what doctors
suspected was a rare form of cancer. finally, when no treatment worked, tiffany’sparents were told she’d be dead within two weeks. but, of course, she didn’t have cancer atall. she had fop. kaplan’s work with tiffany and others helpedinspire him to dedicate his life to the eradication of this condition. as he said, “i was watching a metamorphosisbefore my eyes. i was seeing a normal child turn into a childwho was imprisoned in a second skeleton — literally
imprisoned in this cage of bone.†of her condition, tiffany stated in an interviewin 2006, a flare-up can happen overnight while you’resleeping. like, you’ll be walking around one day,and you’ll go to bed and the next day you won’t be able to move. that’s how fast it works… (as to how it feels to have fop) i would say,let me tie your arms to your sides where you can’t move them and then put a neck braceand a back brace where you won’t be able to move and then stay in a wheelchair allthe time, and then tell me how you feel.
sadly, a few years after this interview, tiffanylost the ability to walk, and on july 30, 2012 passed away at the age of just 23. many who suffer from fop have to eventuallymake the decision as to whether to stay in a wheel chair at all times as their conditionworsens, so that they don’t end up being locked in a straight bodied position. there is finally some hope for people withfop. in 2006, dr. kaplan and his colleagues atthe university of pennsylvania school of medicine discovered the gene that causes fop, specificallya mutation in the acvr1/alk2 gene. among other things, this gene helps controlthe development of bones and muscles, as well
as the gradual replacement of certain cartilagewith bone as you age. people with fop have a mutation in one ofthe two copies of this gene in each cell (one normal copy, one mutated copy). this results in the body “repairing†damagedfibrous tissue with bone. for those interested in the ultra-technicalversion of the cause, it is as follows: a mutation in the gene acvr1 is responsiblefor the disease. acvr1 encodes activin receptor type-1, a bmptype-1 receptor. the mutation changes codon 206 from arginineto histidine in the acvr1 protein. this causes endothelial cells to transformto mesenchymal stem cells and then to bone.
this discovery is not only a big deal forthe few who suffer from fop, but also because research into curing fop may well end up helpingthose who suffer from osteoporosis, bone fractures, and other such similar conditions. while there is still no cure, this discoveryhas opened the door for possible cures or treatments of fop, such as one developed veryrecently by dr. josef kaplan, dr. eileen shore, and dr. frederick kaplan. they engineered an rna molecule such thatit would “silence†the mutated acvr1 gene, while leaving properly working one in thecell alone. when the treatment is complete, it would leavethe non-mutated gene to work normally, thus
stopping the advancement of fop. while still a long way from a cure, this methodat least provides some hope for fop patients. further, clinical trials have very recentlybegun using the retinoic acid receptor gamma palovarotene to inhibit this type of abnormalbone development. in animal testing, at least, this latter treatmenthas shown some promise, with human trials now underway. now normally i wouldn’t try to solicit donationsto something on today i found out, but because the condition effects so few people, verylittle money is available for researching fop and finding cures, with a large percentageof the funds available for finding a cure
for fop raised by family members of thosewith fop (of which there are only about 700-ish people diagnosed world-wide). further, there are only about 3 principledoctors + support staff like doctoral students and the like working on finding a cure.
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