A vitally important FOP moment

Posted by Karen - December 30th, 2012

Posted by Karen

During all the merriment and good times of the holidays, the International FOP Association sent to all FOP families an e-mail containing a link to a computer survey.  All people in the world with classic Fibrodysplasia Ossificans Progressiva, or their caregivers, were asked to complete an on-line questionnaire about how FOP progresses.  The survey was designed by FOP researchers at the “Centre for Research into FOP and Related Disorders” at the University of Pennsylvania, and has been translated into and disseminated in many languages.

This survey is a REALLY BIG DEAL.  Epic, as my kids would say.  Why?  This survey is so crucial becuase it is a necessary first step which will enable our FOP scientists to design a model for clinical drug trials.  Drug trials!  For FOP!!  I’m hyperventilating just thinking about it…  If all goes well, clinical testing could result in a medicine which stops the horrific progression of FOP.  And, I’m optimistic that all of this could occur before my Miranda, who is now 7, reaches the end of her teen years.  (major excitement!)

I will explain in a bit more detail…  Say you’re an FOP researcher, and you’ve got a substance which you think could be turned into a drug to counter FOP.  Obviously you need to test your drug to see if it works on people (after the initial pre-clinical testing has been completed).  But – problem.  FOP isn’t actively causing its evil mischief at all times in all FOP patients…  It can have long periods of time, years even, in which it’s doing nothing at all.  So, if you’re going to test your potential FOP drug, how can you be sure the substance is even doing anything at all when you give it to your test subject?  Maybe the person is just in a quiet FOP period…?

The above is a serious problem, one which the FOP scientists have to think creatively and carefully about when designing a drug trial.  As such, they need to understand how FOP flare-ups progress, and they need to understand the phenomenon inside out and backwards.  How can you tell if an FOP flare-up is starting?  What are the early symptoms?  Is it possible to mistake the symptoms for something else?  Can FOP progress without symptoms?

The UPenn FOP researchers have an excellent understanding of FOP lesions in the scientific context, and by enlisting the International FOP Association’s help in distributing the survey, Drs. Kaplan, Shore and Pignolo and their UPenn colleagues are hoping to gain as much information as possible about FOP in the “real world”.  The data they gather from the survey will be tallied, analyzed and interpreted and subsequently used in the design of FOP drug trials, which I understand that they hope and expect to begin within the next few years.

When we received our survey, I completed it for my daughter Miranda because at age 7, she’s too young to do it herself (also, most of her FOP progression to date occurred between age 2 and 4, and she doesn’t remember that period).  I understand that lots of other FOP individuals and families have already completed their surveys as well.

With only 700+ cases of FOP diagnosed world-wide, it’s extremely important that the survey gets as close to 100% participation in the FOP community as possible.  It’s already a very small population base, which makes it all the harder to get good, useful numbers of responses to the survey.  Can they get 100%?  No.  Undoubtedly there will be people who don’t have computer access, or who speak a language into which the survey was not translated, or who aren’t members of the IFOPA and so don’t even hear about the survey.  For these reasons, it’s extra important that anyone who has the opportunity to fill out the survey does so.

To anyone with FOP who intends to complete the survey, but just hasn’t gotten around to it yet…  I’m getting down on my metaphorical hands and knees and BEGGING YOU to do it, and do it soon.  The deadline is January 15, 2013.  Please please please don’t forget, and don’t miss the deadline!

NOTE – a small percentage of people with FOP (I understand it’s roughly 5%) have a variant form of FOP caused by a slightly different mutation of the same gene as in the classic form.  Apparently people in that situation are asked not to complete the survey, because a separate survey will be distributed to them at a later date.

Having now done my very best to try and underline the importance of people with FOP completing the UPenn’s survey, I will now leave you with a picture of my Miranda, as I always do…

This photo was taken in the spring of 2012 when Miranda was a member of a local softball team.  See how she’s holding the bat?  Her right arm is bent as high up as she can get it – which is not very high, thanks to FOP bone – and she has to compensate for the lack of elbow and shoulder movement by bending her wrist to an uncomfortable degree.  Despite these limitations, Miranda can and did play softball…  But without an FOP drug, a time will almost certainly come when my girl can no longer play, or do many other things, because she’s lost the ability to move her hips/knees/wrists/all of the above.  That will be an extremely sad day for us, as it is for all other people with FOP (and their families) when it happens to them.  This is why I hope with all my heart and soul that the whole FOP community will get behind this survey and finish it before the deadline.

If you don’t have FOP, or don’t act as a caregiver for someone with FOP, obviously you can’t help with this survey.  But here’s how you can help – give generously to the International FOP Association, the Canadian FOP Network, FOP Action (in the UK) or other groups raising money for FOP research.  Donate donate donate!  Thanks.  :-)

And happy new year 2013 to you all.


3 Responses to “A vitally important FOP moment”

  1. Blair says:

    What a great bit of news and what a great photo of Miss M!

  2. helen munro says:

    Fingers crossed all will go well!!!!

  3. Lara says:

    So exciting and so disappointing that we are not included! But scientifically I’m not surprised. In one of the yearly reports, they said the variants were 2% :) Thanks for filling out the survey :)

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