Friends With FOP

When Miranda was diagnosed with Fibrodysplasia Ossificans Progressiva, one of the earliest things we learned is that it’s a very rare disorder.  In fact, FOP affacts about 1 person in 1.6 to 2 million.  That means the chance of any random person having a child with FOP is way, way under 0.01%…  My mind still reels when I reflect that I have a child with such an ultra-rare condition.

The people who research FOP, the scientists at the Centre for Research into FOP and Related Disorders (aka the FOP Lab) at UPenn, are aware of about 700 people worldwide with FOP.  By population prevalence in developed countries, it is estimated that roughly 3500 people actually have the disorder (obviously most are undiagnosed, or, less likely, haven’t made contact with the FOP Lab).

By anyone’s standards, this FOP is clearly an incredibly rare condition.  And yet, even so, there are at least 4 or 5 different research facilities in the world where FOP is being studied.  Most significantly, the FOP Lab exists for the purpose of researching and curing FOP, and has made great strides in that direction.  Amazingly, the Lab is even able to fund FOP-related research projects carried on by other scientists at outside facilities.  The scientists at the FOP Lab are so eminent and so committed that this week, one of their number was elected as a member of the USA’s Institute of Medicine within the National Academy of Sciences.  This amazing and tremendous honour went to Dr. Fred Kaplan, the Isaac and Rose Nassau Professor of Orthopaedic Molecular Medicine and Chief, Division of Metabolic Bone Diseases and Molecular Orthopaedics at UPenn.  The National Academy of Sciences news release states as follows:

“Election to the IOM is considered one of the highest honors in the fields of health and medicine and recognizes individuals who have demonstrated outstanding professional achievement and commitment to service… New members are elected by current active members through a highly selective process that recognizes individuals who have made major contributions to the advancement of the medical sciences, health care, and public health.”

That is high praise, and from my perspective as someone who has met Dr. Kaplan and toured the FOP Lab, couldn’t be more deserved.  I am exceptionally grateful to Dr. Kaplan for all he’s done, and offer him my warmest congratulations.

It’s wonderful to have this recognition of Dr. Kaplan’s work, but well before this award was made, I knew full well of the amazing work being done by him, Dr. Shore and the other scientists at the FOP Lab (not to mention work carried out by scientists at other facilities).  I came to think of FOP as a disorder which is being examined inside out and backwards, and is well on it’s way to being roped under control.  Hey, don’t get me wrong, I know that a cure or effective treatment for FOP is still some time away before it makes it to the market, but there’s excellent reason for me to be confident that it WILL happen…

And so, with this mindset, it came to pass that a few months ago, I went to a meeting of a newly forming group called the Rare Diseases Foundation.  This group developed at the British Columbia Children’s Hospital, and it was created in order to, “…efficiently unlock solutions that will directly improve the lives of children and families affected by rare and undiagnosed diseases.”  The idea of this group is to provide funds to scientists at BC Children’s and elsewhere who are working on studying rare diseases, which is of course a very laudable goal – one I want to support. 

Anyway, part of the Rare Diseases Foundation is a sub-group for parents of children with rare diseases to share local information and support on issues which are common between the diseases (eg, community resources, hospital care issues, educational aids, emotional support, etc).  It was the meeting of the parents’ group which I attended.  I’ve now been to a few meetings, and I intend to keep going, since I think this is a very good effort.

The meetings have been interesting and eye-opening, from many points of view.  One thing I’ve come to realize is that a great many rare disorders (and there are said to be over 2000 of them) have no-one studying them.  No-one…  There are parents at the meetings who are unaware of anyone having ever researched their child’s condition, never mind having the benefit of something like the FOP Lab at UPenn.  In fairness some rare disorders are being well-researched, but it seems that a great many are not.  For families who have kids affected by those diseases, there’s no expectation at all that the disease will one day be cured, or even effectively treated.  And, from what I’ve seen, I think it would be fair to say that the rarer the disorder, the less likely it is that the parent has heard of any research being conducted…  Except, as it happens, in the case of FOP.  FOP seems to be a big exception to this rule.

Knowing how unlikely it is that anyone should be studying FOP is humbling.  It gives me a very keen appreciation for what we have…  It seems strange to say that we in the FOP community are lucky.  How can anything about FOP be lucky?  But, it’s true.  We are lucky, and my heart goes out to those parents I’ve met who have no reason to think there will ever be treatments for their children’s disorders.

Here's my Miranda, a lucky girl.