Rare – Not alone!

February 28th is International Rare Disease Day and in honor of Rare Disease Day, I’d love for you to learn a bit about Costello Syndrome.  I’m not going to give you a whole bunch of facts about the syndrome, but if you want to learn all about it, the best source of information is here – www.costellokids.com.

I think it’s important to understand that while being rare or having a child with a rare disease/syndrome can be scary and even isolating, it’s not actually that unique of a situation.  Did you know that 1 in 12 Canadians suffer from a rare disease or syndrome?  That’s why I believe that it’s so incredibly important to raise awareness for Ali, for all people with Costello Syndrome and for people with rare diseases and syndromes of all types.  Imagine suddenly realizing that your child is different, being told that they have a syndrome that you’ve never heard of and that none of your doctors have ever heard of (I’ve been there).   Imagine walking out into the world with that child and not having a support network to provide you with guidance or medical advice when you’re really struggling?  Imagine watching your child struggle and wondering if they’re going to survive and not having anyone who can tell you what might come next.  This is the reality for families of people with rare diseases, there are so many unknowns.  We sort of go through life not really knowing what comes next.  Our therapist struggle to find information and resources to helps us.  We treat our children by trial and error and when something doesn’t work, we simply start over.  It’s lonely and it’s hard but it happens to 1 in 12 Canadians.  Being rare is actually pretty common.

I think it’s important for Ali to grow up knowing that although she is rare (probably more rare then most people with rare syndromes) that she’s not alone.  I think the best way to do that is to talk about it.  That’s why I blog.  I share her and our family with the people who read my blog so that she grows up knowing that being rare does not mean that you’re alone.  It works!  We feel like Ali (and our family) is surrounded by love and by people that cheer her on every step of the way.  We feel like we have people to lift us up when times get tough and to celebrate with us when the really amazing things happen.  We certainly don’t feel alone in this journey.

We are the family of a child with a rare syndrome and in some ways, that makes us different and that’s okay.  But what wouldn’t be okay would be for Ali to grow up feeling isolated and like she doesn’t fit.  I worry about what comes next for Ali.  I worry about her being included socially and about her being able to keep up with her peers.  She’s such an amazing kid but it doesn’t change the fact that there are some things about her that will always make her different than the other kids and again, that’s okay.  Everybody’s different in some way and that’s why we raise awareness for her.  It breaks down barriers and helps people to see her for the incredible, strong little girl that she is.  It makes kids excited to meet her and to say that they know her.  It makes her life better.

So today is rare disease day.  Please tell someone about Ali and how incredible she is.  Please take a minute to think about all the people around you who go through life feeling isolated because they too are rare and remember that you can do something to change it.  Take an opportunity today to learn about someone rare.