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.