Today I’d like to introduce you to someone very special.
Meet Alexandria, my five year old niece, who we call Ali, for short.
In many ways, Ali is a typical 5 year old little girl. She loves Hello Kitty, coloring with crayons, playing in her sandbox and yelling at my husband, her Uncle Rod, because he gave her permission to dump a bazillion and one Lego bricks on our shag carpet and it took Ali and I over an hour to pick them up. Of course, it was his fault, ya know.
Ali holds a pretty special place in my heart and those that have been blessed to meet this happy, smiling, precious little girl feel the same way I do because Ali is pretty special.
What you don’t know, is that Ali is not your typical 5 year old. Ali has recently been diagnosed with an extremely rare and debilitating genetic disorder called Fibrodysplasia Ossificans Progressiva, commonly referred by its abbreviations FOP.
What is FOP
FOP is a genetic disorder that causes bone to form in muscles, tendons, ligaments and other connective tissue. This devastating, progressive disorder causes extra bone to form over joints, essentially forming a second skeleton, leading to the horrific nickname, Stone Man’s Disease. Those affected by FOP are literally trapped within their own bodies, encased in bone. There is no cure and at this time there are very little treatment options- though there are very dedicated doctors working diligently to change that.
Signs of FOP
At birth, there is only one outward indicator of FOP- the big toe will be malformed. It may be short, bent or sometimes curved inward. This serves as an early sign of what is to come.
Inflammation and swelling on the body will appear. These swellings often clear up, but leave new bone behind. Since huge bumps can appear overnight, FOP is often misdiagnosed as cancer.
Waiting for a Diagnosis
This disorder is so rare that many doctors either don’t know about it, or simply overlook it. Only one in 2 million people worldwide are known to be affected with FOP. Though researchers believe there may be over 3,000 people worldwide with this disorder, approximately only 700 have been diagnosed.
Right now, it takes 5 years on average for a typical diagnosis of FOP and it is misdiagnosed 90% of the time. Each misdiagnosis can lead to another and another, becoming a vicious cycle. The scary thing is that the treatment for each misdiagnosis- testing, surgeries and even chemotherapy- can cause more tissue trauma, resulting in more flare-ups, leading to further deformation, loss of mobility and irreversible harm. It is imperative that this disorder is diagnosed as soon as possible.
Join Ali in the Fight Against FOP- how you can Make a Difference
You may be wondering how you can make a difference. There are several things that you can do to help Ali and other’s diagnosed with FOP.
Educate yourself. The International Fibrodysplasia Ossificans Progressiva Association website is full of information about this crippling disorder. You can watch videos that explain what FOP is, find out what help is available and meet the doctors that are working so hard to find a cure for Ali and those that suffer worldwide from FOP.
Give it forward. As much as 75% off the money received to aid FOP research is given as a result of awareness through FOP families and friends. That is huge! You can donate directly to IFOPA or you can help Ali get some of the medical equipment that she needs by donating to Ali’s online fundraiser.
Join www.goodsearch.com and designate the International FOP Association as your charity of choice and next time you search to see what time the movies start in your area, where to go on vacation or what the best brand of dog food is, you’ll donate money for research to help children like Ali.
Become an advocate. Spread the word about this terrifying disease. Share this post. Tweet it. Facebook it. Pin it. Write to your elected officials and tell them why continued research and funding is so necessary. The FOP gene was recently discovered in 2006- with that discovery comes hope. Hope in quicker diagnosis. Hope that treatment will be available. Hope that a cure will be found.
I’ll close with a few words from my brother, Ali’s Daddy.
“For the past 5 years it has been one of my life’s greatest joys watching Ali grow and play and turn into the spirited little hooligan that she is. But with all that joy there has also been great pain as we had to sit idly by and watch this disorder start to take a hold on her. I love my baby girl and the thought that someday she won’t be able to play, or run, or even walk breaks my heart. Seeing her play and hearing her laugh, even with everything that she is going through is why I fight. If she can continue to be strong with everything she has already gone through, than so can I. I AM ALI’S ARMY!” ~ Ali’s Daddy (Gabe)
Will you join Ali’s Army and the battle against FOP?
Read more about Ali and this disabling disorder at Ali’s Army, a site designed to keep family and friends abreast of Ali’s disorder and to educate EVERYONE about the effects of FOP.
© 2012 – 2013, Tonya Prater. All rights reserved.