Recently I attended a “Rare on the Road Leadership Tour” in Kansas City, MO. It popped up on my Facebook feed, I asked people about it, and said to myself, “You need to do this…You need to learn how to be a bigger part of addressing the ‘rare.’ While I’ve always been assertive, confident, and an eternal optimist, I’ve also been comfortable to sit back and watch the pros do it all. I didn’t feel well versed in all of the lingo. I hadn’t been on the circuit of slideshows or presenters to know how to properly navigate the ‘rare’ world….so I decided it was time to learn.
The great part of attending workshops/presentations like these, are they’re designed for someone like me. Semi-knowledgeable, but on the fringe of becoming someone who could walk into a conversation and hold their own. From the beginning, these conferences begin with the basics and work their way up to practicing to make phone calls to senators and representatives with a script to read. There are buzz words to learn, phrases to say, mannerisms to avoid…all leading up to techniques to make standing tall in the presence of the decision makers in state/Washington easier.
Getting involved nearly didn’t happen. We nearly removed ourselves from the medical scene about 3 years ago. Our son Gage was 14 before getting his diagnosis. For 13 years, we’d undergone so many tests and procedures with no answers, we almost decided to stop seeing Dr.’s and putting our son through the battery of polks and prods. One of our Dr.’s suggested we undergo a procedure called Exome Sequencing. We discussed this would be our last ‘procedure’…Gage was done being a guinea pig. To be truthful, it took about 8 months to get the results and quite frankly, we’d forgotten about even the test.
Our Dr. squealed with delight that ‘they’d found it’…we had an answer. They told me over the phone, and the name of it was longer than I could comprehend, so when I shared it with my husband, he said, ‘Oh, ok.’ To this day we’re still learning what Gage’s condition is.
It was almost anti-climactic. We’d lived with it for so long, we knew Gage was ours to love, in the condition he was in, for as long as he was with us. And we knew that whatever Gage had wasn’t going to improve or change after hearing about its rarity, no treatment, and no cure. To be truthful, it just doesn’t matter…we love Gage just the way he is.
What he brings to our life is a depth and soulfulness of understanding that is a gift. Our two older children, daughter Bailey 23, and son Taylor 21, are ambassadors to unquestionable compassion of others because of their brother.
So why attend these conferences and tours….because it’s a responsibility I feel I must share. Sitting back to allow others to forge the ‘push’ for legislation or change is not in my mindset anymore.
Back to the part about almost not getting involved. Had we not had that Exome Sequencing test, we would not have the steady connections with parents whose children are affected by a rare disease. Had we not had that test, we would never had opportunity to take Gage to the NIH for extensive studies so that we could contribute to the understanding of NGLY 1. Had we not had that test, we may have never been aware of the degenerative nature of our son’s disease…and as morbid as that ‘gift’ sounds, it makes each and every day more precious.
Every parent wonders ‘why’…..why did this happen? Why my child?
Well, why not your child??? Why does it have to be someone else’s child?
We choose to get involved because we should.
We choose to be sad later.
We choose to see our child’s existence to be that of a pioneer for a cure or treatment, rather than a casualty.
We choose to do our part…not sit back and watch.