What we did on International Rare Disease Day

Posted by Karen - March 3rd, 2013

Posted by Karen

Thursday of this week was International Rare Disease Day, a day recognized in many countries around the world.  On IRD Day, people with rare diseases raise awareness of the challenges they face.  My daughter Miranda’s disorder, Fibrodysplasia Ossificans Progressiva, is most definitely a rare disease – to count as a rare, there needs to be a prevalence of 1 in 2,000 or less, and FOP is 1 in 2,000,000 (still boggles my mind to think of that).

A small display about FOP which I provided for the RDF event. The information I posted was courtesy of the Canadian FOP Network and the International FOP Association.

Here in Vancouver where my family and I live, we recognized the occasion by going to an event put on by the Rare Disease Foundation.  I’ve talked about the RDF before, but in case you missed those blogs, the RDF is a Vancouver based charity which does two things – it runs a monthly support and discussion group for parents of kids with rare diseases, and it also administers “microgrants” (grants of up to $3,000, I believe) to researchers and caregivers who want to research a particular aspect of patient care.  On IRD Day, the RDF had some folks present short talks on what the RDF has done for them.  Then, afterward, there was a reception with some delicious nibblies and sweets.  While the formal part of the evening was going on, a bunch of enthusiastic volunteers had a special room with games, puzzles and other activities for kids (my Miranda and her brother Owen hung out in there).

The talks were fascinating.  Most were by microgrant recipients.  It seems amazing to believe that a grant as small as a few hundred or a couple of thousand dollars could make a difference in rare disease patient care, but these presenters showed that it can.  In on instance, a disorder which had afflicted a family for several generations with boys who have developmental delays and aggression problems was learned to be the result of a shortage in brain cholesterol (this didn’t lead to an immediate cure, but set the doctors on the right path in that direction).  In another instance, a researcher used a couple of microgrants and learned that administering serotonin meaningfully improved the lives of a group of siblings affected by an unknown disorder.

My favourite presentation, though, was by my friend Chad Farquharson, a fellow rare disease parent.  Chad talked about what the parent support and discussion group means to him and his husband.  Chad and Wayne’s son has Maple Syrup Urine Disease (MSUD), which causes him to be unable to digest a couple of amino acids in protein  – eating unrestricted protein causes brain damage – thus requiring him to have a very restricted and specialized diet and weekly blood tests.  Chad said that when he first heard of the RDF parent group, he was skeptical, thinking that parents of kids with all sorts of different disorders wouldn’t have much to talk to each other about.  When he came to a meeting, however, he learned pretty quickly that we have lots and LOTS in common.  In no particular order, Chad pointed out that rare disease parents:

– have to learn and know more about their child’s disorder than most of the caregivers they interact with;

– have to deal with medical specialists from a very broad range of areas;

– get tired of having to explain their child’s disorder to people over and over, and then have those people stare at them with limited comprehension and/or squeamishness;

and much more.  Chad pointed out that it’s a relief to be with a group of people who really get it – OK, maybe not the specifics of your kid’s own particular disorder, but each parent has his or her own set of weird and wild things to deal with.  At our parent group meetings, no-one reacts with amazement in hearing that your child’s muscles are turning to bone (FOP), that your child will develop an insatiable appetite and could eat himself to death (Prader-Willi Syndrome), that your child has skin which forms painful blisters at the slightest touch (Epidermolysis Bullosa), or has a disorder which causes stunted growth and unusual tumours (unknown disorder).  Frankly, it’s a relief to be able to feel completely at home with a group of parents…  Chad spoke very eloquently about how great it is to have this opportunity.

My arm on International Rare Disease Day - I was wearing bracelets for the Rare Disease Foundation (purple), the disorder IDIC 15 (blue) and FOP (Canadian FOP Network = red and International FOP Association = green).

At this event, we also heard about how parent support groups connected to the RDF have started or are starting in Ottawa, Toronto, Winnipeg, Regina, Calgary and apparently even Minneapolis, USA.  These groups will be a big benefit to rare disease parents in those communities.

I greatly enjoyed the Rare Disease Foundation’s International Rare Disease Day event this year.  While much of the focus on IRD Day is (rightfully) about the difficulty in getting research on and treatment for rare diseases on a big scale, it was cool to have an event where we focused on some rare disease successes.

One Response to “What we did on International Rare Disease Day”

  1. Marilyn Hair says:

    Awesome article, Karen. Thanks for participating in Rare Disease Day. Like you, I belonged to a local-parent-of- special-needs-kids group before we found the IFOPA. It made such a difference,

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