Friends With FOP

Posted by Karen

Fibrodysplasia Ossificans Progressiva, which affects Miranda and her friend Erin Kate, has a prevalence of about 1 in 1.6 million people.  There are just over 700 people known to have FOP worldwide, with estimates of about 3500 total (in less developed countries, most aren’t diagnosed).  With so few sufferers, FOP is considered an “ultra-rare” disorder – one of the rarest of the rare.

A rare disorder like FOP barely registers on the public consciousness, if at all.  Families of those affected can’t, and generally don’t, expect widespread levels of concern about our disease.  FOP, however, is hardly the only medical condition in this category.  There are dozens upon dozens of other rare disorders, each in the same boat.  In fact, according to the Canadian Orgazation for Rare Disorders, or “CORD”, 1 in 12 Canadians has a rare disorder, which is a condition with no more than 1 in 2,000 sufferers.  Estimates in the United States and Europe are about 1 in 10, according to the American organization the National Institutes of Health.  Think about that number – about 10% of the population has  rare disorder.  There are at least 7,000 rare disorders.  FOP, Neurofibromatosis, Epidermolysis Bullosa, Pompe Disease, CFC Syndrome, Paget’s Disease, Progressive Osseous Heteroplasia and Cri Du Chat are just a few examples.

At some point along the line, a bunch of smart folks realized that if people with rare disorders of many types band together, they can have far more influence on health issues and research than if we all act separately.  The result was groups such as CORD, and in the United States, NORD (National Organization for Rare Disorders).  Here in British Columbia, we have the Rare Disease Foundation, which seeks to promote research into rare diseases.

In an effort to bring more public awareness of issues surrounding rare diseases, CORD and NORD collaborate with other international rare disease groups in taking part in Rare Disease Day.  In 2010, Rare Disease Day is today, February 28, 2010!

As you go about your day, please give a thought to issues affecting people with rare disorders, including the following:

- Most rare diseases have no cure, or even any effective medical treatments.

- Many children with rare diseases are misdiagnosed, often leading to innappropriate medical treatment (this is especially a problem for FOP).

- It’s hard to interest scientists in developing treatments for rare disorders because of the low level of financial incentive (ie, few sufferers means few people to prescribe a drug for).

- Even when treatments are identified, they may be prohibitively expensive.

On Rare Disease Day, there will be scientific presentations, rallies, discussion groups and conferences in various parts of the world, all designed to draw attention to issues of importance concerning rare disorders.  If you want to learn more about Rare Disease Day 2010, or about rare disorders in general, go to www.rarediseaseday.org, www.rarediseases.org,  www.raredisorders.ca or www.rarediseasefoundation.org.

For Miranda and Erin Kate, as well as thousands of children and adults with FOP and other rare disorders, Rare Disease Day is all about hope for the future…