Musings

July 31, 2017 - I have long outgrown the skewed view of the universe...

Today is the 31st anniversary of my husband and my marriage. It is remarkable to me to think of that day, so hot and humid, 31 years ago and where we are now.

Sometimes people ask us if we feel badly that our union literally resulted in our kids having a disease - because their disease is autosomal recessive, we are 'responsible' for it. In an autosomal disease, each parent passes on a gene with a mutation, and not the gene without the mutation (we each have one of each). So yes, Pat and I each passed on an ABCC6 gene with a mutation in it. Two mutations, and no 'normal' copy of the gene, gives our children pseudoxanthoma elasticum (PXE). Not only did we do this once, we did it twice. 100% of our kids have PXE.

I am do not feel good or happy that we passed these genes on. And, I also don't feel badly about it either. These seemingly contradictory feelings are allowed - in fact, what is often called confusing feelings, are multiple different feelings.

There was a terrible moment (that lasted weeks) in which I couldn't comprehend the world having this glitch or bump in it. I kept thinking that we would be able to reverse time and not have to accept this piece as our reality. That never happened - time marches on - and here we are in 2017.

Journey to TedMed

Preparing for this TEDMED talk gave me a wonderful occasion to pause and reflect. With the release of the talk I have the space to give more color to experiences and ideas I shared there.

When my husband Pat and I were faced with the pseudoxanthoma elasticum (PXE) diagnosis of our children, we were shocked. The linear, idyllic, progression of life that we expected was derailed. Instead, a surreal unfolding ensued. Day by day we realized that we couldn't go backwards to BEFORE. We also realized that we would have to go ahead into a space we never knew existed. This foray into biomedical research was beyond groping in the dark for a light switch to illuminate our world; it was like having to find the source of electricity to power us through.

Pat and I had no reference points, no landmarks, no understanding of genes, multi-systemic disease, or the fact that many conditions simply do not have treatments. We were attempting to plot solutions using tools we had never seen nor heard of before. As Pat said, "We didn't know a gene from a hubcap".

Because we were neophytes, we had beginner's mind and heart. For us, there was immense space around each of the problems we encountered and many opportunities for considering novel solutions.