April 23 is FOP Awareness Day

Posted by Karen - April 20th, 2019

Hi friends. We’re coming up quickly on FOP Awareness Day, April 23 – a day proclaimed by the International FOP Association (IFOPA) to spread knowledge of the disease fibrodysplasia ossificans progressiva. My daughter Miranda, who is 14, has FOP, so this is an important day for us.

I’ve said it before, and I’ll say it again… FOP is super, duper rare. The conventional wisdom is that about 1 in 2 million people has FOP. Since there are 7.5 billion people in the world, that means there are roughly 3,750 FOP patients. Except guess what? The IFOPA and the world experts on the disease are aware of only about 900 of those people. Assuming that the remaining people unknown to the experts are undiagnosed – which I think is a fair assumption – only 25% of the FOP population can give their condition a name.

Imagine going through life, or seeing your child do so, with bones inexplicably growing under the skin and causing progressive immobility, and NOT. KNOWING. WHY. I remember how helpless and terrified I felt in the days when Miranda wasn’t yet diagnosed (her dx day was April 19, 2007 at age 2), and I simply cannot fathom living for years with that situation.  Actually, scratch that… I do have a tiny bit of an inkling. When the newly formed Canadian FOP Network had it’s first FOP family conference back in 2009, we had one family who had traveled to Ontario from a small east European country for the conference when they finally got the FOP diagnosis for their young adult family member who had been symptomatic since very young. They were so thirsty for information that they flew half way around the world just for a 3 day FOP conference. Frankly, I think I would have done the same in their position. I didn’t get a chance to talk to these people, but their actions indicated that finding out about FOP was of priceless value to them.

And so, on April 23, 2019, we acknowledge FOP Awareness Day and do our best to spread information about the condition. If promoting knowledge of FOP for this day helps even one person become diagnosed, it’s worthwhile beyond measure.

What do you need to know about FOP to effectively raise awareness? Here is my short list of things to know and remember about FOP:

1. The first symptom is typically malformed great toes. The great toes are missing a joint, and may appear shorter than usual, and/or bent inward, and often with a bunion-like bump. Occasionally, the great toes are missing altogether. There is an additional bunch of subtle skeletal abnormalities which accompany FOP, but they aren’t visible to the naked eye. Often the only unusual thing about a young child with FOP is the strange big toes.

The finished product. Very glamorous.

Miranda’s toes, circa age 9 or 10.

2. At some point between age 1 and 5 (though occasionally not til the late teens, and even later in exceptionally rare cases), the person begins developing lumps in soft tissues such as muscles, tendons, and ligaments. The lumps are often painful and warm to the touch. As the days go by, a piece of bone begins to replace soft tissue within the lump, and movement at the joints becomes restricted. Flare-ups, as they are referred to, usually start in the head or neck, and spread down the spine and across the shoulders, and later into the arms and legs. People can go months, and sometimes even years, between flare-ups, though flares are usually frequent and unrelenting in the early days. Patients often require a wheelchair for mobility by the mid-to-late teen years, and face a reduced life expectancy of 40 to 60 years.

3. FOP flare-ups can appear spontaneously, but can also be caused by even minor traumas including intra-muscular injections and dental treatment (dental treatment can be done safely for people with FOP, but it requires special care).

4. And last, but certainly not least – there is currently no cure or even effective treatment for FOP. But that being said… There are currently 2 new medications for FOP in active testing on live FOP patients with a third waiting in the wings to begin later this year, and an existing drug is being tested to be re-purposed for FOP. There has NEVER been so much hope for FOP patients and their families as there is right now.

This last point is where, I’m going to admit it, I have a selfish wish. I want more people diagnosed with FOP so there will be a bigger database of known patients and more probability that the best and most effective medications for FOP will have enough potential patients for testing purposes. The more known patients there are, the higher likelihood that my daughter Miranda, and all our friends in the FOP community, will one day have an effective medicine.

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April 23 is FOP Awareness Day. Please spread the word by sharing this post on social media. Thanks ever so much!

 

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