Nine years ago I had the oddest feeling. A simultaneous
sense of relief and apprehension came over me as a doctor we had been waiting
see told me what I had (sort of) been waiting to hear. We ended up at medical
genetics where we were told that our concerns for our son over the past three
years were valid. He likely had some kind of genetic disorder. We were right to
pursue a diagnosis. But one was still to elude us. Whatever he had didn’t seem
to fit into any known disorder. How could that even be? I didn’t know it was
possible to be right about our worries and yet still be so alone, and still lost
at sea. We didn’t have anywhere to turn for help, for guidance and so we went
forward as a family, but with no group or organization to lean on.
Fast-forward two years and to hear the words ‘your son has a
rare bone tumour’. Again and still we were alone in this. We muddled through
and realized that we didn’t know enough to advocate for him. We learned – but it
was from our mistakes and from missed opportunities. And we learned from seeing
him suffer. We came out of it far wiser and with a feeling that we couldn’t let
things stand. We had to find a way to get meaning out of this experience and to
share what we learned. Because if we were struggling, then other rare families are
struggling too. And together, we could make things better for the next family
just like us.
At this point, we were so lucky, because there were other
families and healthcare providers who were already thinking about this and reached
out to us. Our amazing medical geneticist was a part of this group and asked us
if we’d like to take part. Each of us was tired of spinning our tires, alone;
and seeing others doing the same. Together, we wanted to create something that
could create change for the rare disease community.
And it’s funny, because at the time, we didn’t know what we
were doing was so special. We were parents, and researchers, and health care
providers of different stripes and we all valued each other’s voices. We each
brought equal but different knowledge and we saw the importance of that. Out of
a few meetings came the Rare Disease Foundation. We recognized the importance
of research to care for rare disease families. We recognized the importance of
connecting the community to create knowledge transfer and advocacy. And I found
my community. And I found my voice for advocacy. This was eight years ago.
Eight years of funding care-focussed research. Eight years of connecting
families. Eight years of learning more about the rare disease community.
And I have so much gratitude for that group of people
because out of that I realized that my family is not alone. I found out that I
can make a change. And that while I don’t think that everything happens for a
reason, I can wrestle away meaning from the things that go on in our lives. And
that is ok.
The Rare Disease Foundation connects families, and health
care providers, and researcher. Why? Because families with rare disease deserve
better care and these connections are what is going to make a difference.
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