By Luke Rosen
Originally published August 31, 2017
As our foundation thrives, more families with KIF1A find our community, and scientific discovery is taking flight, an important conversation emerges about how family and patient-led foundations start — and if it’s possible to facilitate the discovery of treatment for rare disease. A large part of that dialogue revolves around the numbers involved and the seemingly unscalable mountains standing in the way of progress. Each morning we wake up with a fleeting moment of forgetfulness. Forgetting for a split second that our daughter has a disease with a devastating reality. What we would give for that moment to last a lifetime. But it doesn’t. Before the alarm goes off at 5:00 am, the moment is gone.
When we woke up yesterday to see our foundation featured in The Wall Street Journal we were relieved and thankful. Finally the national spotlight is shining on KIF1A and much needed awareness is spreading. I also realized there is a vital set of numbers and cost analysis missing from almost every bit of rare disease literature circulating the world. So, I thought I would share insight about what it takes to start a foundation aimed at curing rare disease. A foundation like ours, started to discover a cure for our daughter and other kids like her. KIF1A – Related Disorder is a neurodegenerative syndrome with a progressive course. A disease without treatment or a cure. A disease shortening the lives of our children and stealing away their speech, vision and mobility. A small window exists for science to catch up and save the life of every child with KIF1A. Together with our doctors we’re making progress. Together with all the families, we’re opening the window.
So, for the families of those 7000 rare diseases affecting the population, and those who want to join the approximately 265 nonprofit organizations working to accelerate discovery, here is an intimate look at the numbers and the real cost of running a rare disease org.
Our foundation is centered around superheroes. It’s our theme, it’s what inspires families and scientists to relentlessly fight a disease with no name. Our kids are superheroes with severe movement disorders, seizures, brain atrophy and overwhelming delays in every area of development. They literally are superheroes – all of them, but they have a partner. Another real superhero who isn’t pictured on websites, featured in the news and celebrated. For us, that person is Sally, Susannah’s mother and my wife. When we decided to start the foundation, I stopped working. It was a difficult decision, largely because of the inevitable financial strain we would face.
After hearing from doctors that we should spend as much time with our daughter as possible, we did the impossible – Sally did the impossible: she worked even harder at her fulltime job to support our family. A demanding career yet somehow she remains the most present parent any family could have. At every ballgame and pot luck. Every doctor’s visit, every brace fitting. Because her presence is so remarkably constant, it’s unimaginable that every bit of KIF1A foundational work is driven by Susannah’s often silent, and too humble mother. But it is. There’s a difference between being with your children and being with your children. Sally’s superpower is being withSusannah and Nat every second of every day.
Truth is, there will never be a tangible list outlining the real cost and work hours required to run a rare disease foundation relentlessly searching for treatment. While we’re able to rattle off price tags for scientific endeavors and fundraising events, the value of what our superhero does daily is beyond measure. There’s no spreadsheet or time clock, no item on the board’s agenda or call to take. There’s just life. A new parental normal with an unthinkable reality. Piles of never-ending paperwork contesting hospital bills; fighting for every service Susannah needs; communicating with school; hours of Medicaid applications; disability parking permits; utility bills; making sure every birthday gift is ordered; saving every lost tooth and teaching me how to put a pony tail in a three-year-old head of hair – a head that jerks with spasticity. Sally’s allotted vacation days are planned anticipating Susannah’s extended hospital stays. She wakes up at 5:00 every morning to make lunch and hides little notes in their backpacks reminding each how much she loves them – not that they ever need reminding.
Nat and Susannah inherited their mother’s work ethic – that’s obvious every day, watching our brave daughter fight through PT sessions with tears in her eyes and strength that makes me the proudest father in the world. So, in case anybody is wondering how much it really costs to start a foundation like ours — sorry I can’t give you a dollar amount. I can only speak to my experience as the co-founder of a thriving nonprofit – It takes Susannah’s mother, my wife and my best friend. It takes a superhero.