What have you been doing for the past 3 1/2 years?
Having a few children? Learning a new language? Starting a new job?
I’ve been watching lives being saved. Children going from death to life. Parents laughing again. Letting their children run free. More hugs and kisses than you could possibly imagine.
But then I turn around and in that same 3 1/2 years, I’ve watched children lose the ability to speak, become wheelchair bound, disengage from those around them, and deteriorate toward an early death.
Trust me, 3 1/2 years goes way too fast (and in drug development, too slow) in a disease with an average lifespan of 12-15 years old.
It is that dichotomy that caused me to write the previous post, A Tale of Two Frogs: a rare disease story. While I’ve been able to celebrate the stability of my son and his new learnings, I am faced with the dire reality of so many other boys with Hunter Syndrome who were either too young, too old, had a shunt, or just plain weren’t in the right place at the right time.
So why? That is the question I hear most often. Why? When anyone can see Case’s not only stability but amazing progress, why are boys any longer destined to sit and wait to gain access to this drug? Either until they might possibly be among the few who qualify for the next phase of a trial (within the next year, hopefully) but in the meantime they watch their child lose skills and as each day passes, risk falling under the qualifying IQ threshold, or heaven forbid, the 3-5 more years it may take until FDA approval?
Why are boys still dying? Losing their ability to speak? Losing their vibrant personalities? Losing what their parents so long to keep?
Bureaucracy… Process… Legalities… Systems…
I don’t care what the name is that you give it, that is what it is. The Food & Drug Administration (FDA) is the United States federal agency responsible for managing the clinical trial process for drugs not yet approved for use by the general public and the eventual approval and labeling of their use.
And the FDA’s “process” to either allow people compassionate access to the drug outside of a trial, or to eventually get it approved, appears to need compelling evidence of clinical benefit. Not just a little bit. Not just anecdotes. Compelling evidence. Objective, compelling evidence.
Do you want to guess how easy it is to get objective, compelling evidence in a very small population of a cognitively and behaviorally impaired boys whose disease itself makes them generally unwilling or unable to complete the very tests that the FDA wants?
And all the while, if they held a meeting or inquiry of the families whose kids are receiving the drug, and the families of the kids who need it, I think their question of compelling evidence would be easily answered. Or speak with anyone in our community that even comes into casual contact with Case. Their jaws drop and they shake their heads at the amazing miracle that his life has become. And the stories of other families are similar.
I read rare disease news, journals, stock analyst reports. They banter about the race to to get a drug for Duchenne Muscular Dystrophy on the market. Yes, very important news. But I see little to no press on our IT Idursulfase. Our groundbreaking drug that will alter the course of a mind-wasting disease. The data was proposed for a presentation to an international metabolic conference and it was relegated to a poster. A poster. And nowhere do I see reports of the fact that actual lives have been saved. This drug has saved lives. It has brought children from death to life.
The original goal was stability. But it has achieved that and for many of the boys, so much more.
Simply put, Case was dying. And now he’s not.
There, I’ve said it.
Where is the headline on that?
I could list through all the things he knows and can do now compared to 2 years ago, but unless you’ve seen him, you may not believe it. You may not believe that a Hunter boy can seem so much like a typical child that many that encounter him don’t know there’s anything “wrong” with him. Him whose parents were told he would die. And now he climbs climbing walls, swims underwater for diving rings, watches football, plays soccer, writes his name, tells me “that’s cool” or “that’s funny,” asks and answers who, what, where, and why questions, has true friends, bags my groceries, picks out his own clothes, dresses himself, plays outside by himself, walks by himself in the airport and in crowded parking lots, obeys when I tell him to stop, and wants to be a fireman.
So why, why do my friends’ children still have to die? Someone explain that one to me. Someone take Jack, and Declan, and Danny, and Logan, and Zane, and Tucker, and Matthew, and Scotty, and so many more that my heart can’t continue, into their home and explain to them why there is a drug that can save their life yet they cannot have it.
Be honest and say that you’re protecting them to death.
Rare disease is different. And ultra rare disease is ultra different.
Many of us are working to make sure the FDA understands this and that as many boys can receive treatment as possible. But we need you!
Have you seen Case recently? Or another child in the trial? What compelling evidence have you seen?
Or maybe you’re a mother frog in waiting. What risks would you take, what desires do you have to get access to this drug for your child?
We need to hear your voice!