Friends With FOP

Posted by Karen

This is an interesting and hopeful time of year for the Fibrodysplasia Ossificans Progressiva community.  I look forward to June because it’s usually when we get to see the annual research report by the Centre for Research into FOP and Related Disorders, aka the “FOP Lab”.  I did a blog last year about the 2009 report, and I plan to do one when the 2010 report is released.

In the research report, the scientists at the FOP Lab describe the various research projects they’ve been working on during the past year.  They do an excellent job at explaining their research in terms which can be understood by us non-science types.  The report hasn’t yet been released this year, but it should be any day now…

Ever since the discovery of the FOP gene was announced in 2006, a year before Miranda’s diagnosis, FOP research has been bounding along at a terrific speed.  I understand the scientists have been making lots of progress at learning about the shape and properties of the FOP gene, and that they’ve been testing various compounds which may block the gene’s functioning.  I visited the FOP Lab last June as part of a mothers’ tour, and it was extremely exciting.  The Lab’s goal is nothing short of CURING FOP, or finding treatment which renders it irrelevant.

And yet…  Despite all the evidence of hard work and progress in the FOP Lab, there’s a little “negative nelly” part of me, a tiny inner pessimist, which worries that this will all go no-where.  The problem is, you see, that there are very few people in the world who have FOP, so why would any pharmaceutical company in the world want to invest the time and money into finding and testing a drug for FOP?  Yes, I’ve heard all the counter-arguments – a drug for FOP could also benefit those with osteoarthritis, excess bone formation due to spinal cord injury, people with heart valve calcification, soldiers wounded in war (who are at risk for unwanted bone growth),  and several other things.  But…  Despite knowing those things, that rotten little voice inside of me still says nope, there just isn’t enough reason for a drug to be produced, and even if the FOP researchers find something, it will never become a medication.  I hope with all my heart and soul that I will one day be able to squish and destroy that little voice forever…

Recently I discovered something which took me a step further toward silencing my inner pessimist.  I had a free moment without my kids shouting at me to help them with something (amazing!), and out of curiosity, I decided to google another very rare disease called Progeria.  You may have heard of Progeria – it’s that nasty genetic disorder which causes toddlers to begin aging rapidly, such that before long, the children are suffering from age-related problems such as heart disease, baldness, arthritis and so on, and life expectancy is to about the teen years.  Like FOP, Progeria has no cure and no effective treatment.  

In my search, I came upon a website for a group called the Progeria Research Foundation (“PRF”).  See www.progeriaresearch.org if you want to have a look at this.   Upon reviewing the PRF site, I learned that, get this, Progeria is at least two to four times more rare than FOP!  Apparently Progeria occurs in 1 in 4 to 8 million babies, while FOP has a prevalence of 1 in 1.6 to 2 million.  FOP is practically common compared to Progeria.

As far as FOP is concerned, though, here’s the really interesting part…  It seems that as of 2007, scientists who research Progeria began conducting the first clinical trials (ie, trials ON PEOPLE) of drugs to treat the disorder.  Apparently, they’ve tested some things on mouse models, and have seen very significantly positive results in terms of preventing and reversing the ravages of Progeria.  I further learned that the genetic mutation which causes Progeria is like the FOP one in that there’s a single pinpoint mutation involved, and that the Progeria mutation was announced in 2003. 

And so, I learned two things which gave me tremendous hope as far as our own situation with FOP.  First, it took the Progeria research team from 2003 to 2007 – only 4 years- to go from revelation of the gene discovery to testing drugs.  Of course, I am aware that what happened for one disease won’t necessarily happen for another, and that 4 years is an unbelievable, exceptionally fast rate…  But, the fact it DID happen so fast for Progeria is extremely encouraging.  It leads me to believe it wouldn’t be impossible for us to see FOP drugs in testing maybe within the next 5 years.  Second, apparently someone is actually INTERESTED in testing drugs for Progeria.  Again, of course this doesn’t necessarily mean it will happen for FOP.  Also, it appears to me the Progeria drugs are existing ones which the Progeria folks are re-purposing for Progeria sufferers, which is different to discovering a whole new medical compound.  But still…

Bottom line for me on reading about the Progeria situation - they’ve had some incredible breakthroughs in a short period of time, and maybe doctors will soon be able to control Progeria with medication.  If it could happen for them, with a medical condition so much more rare than ours, why not for FOP?  We could be lucky too!

My happy, laughing Miranda, for whom I dream of a future free of FOP.