In 1964, Justice Potter Stewart remarked on his threshold for pornography in Jacobellis v. Ohio.
I’ve found another, equally appropriate scenario for this phrase.
The clinical trials system of the United States, enmeshed in its relationship with the regulations and personalities of the Food & Drug Administration, is a mystery to many Americans. That is, until they are thrust into it by necessity.
Only when one is dependent upon a clinical trial to save their life, or the life of a loved one, do they dive headlong into a world that speaks of safety and efficacy, but is controlled by p values and interpretability.
I personally (and naively) dove into that world in 2010. I thought that drugs that worked got approved. Drugs that didn’t, well, didn’t. Drugs that were risky, but worked, fell somewhere in the middle.
In 2009, my then two-year old son was diagnosed with a rare disease called Hunter syndrome or Mucopolysaccharidosis II. Within 24 hours, I knew of an upcoming clinical trial.
Time was not on our side. So we wasted no time.
You see, Hunter syndrome causes progressive loss of function, and in its most common, severe form, the form affecting my son, it causes loss of cognitive function with an average life span in the early teens.
During that time, from approximately age three, parents watch their children lose the ability to speak (if they ever had it), control their impulses, recognize family members, eat, walk, and finally, breathe and function.
When my son reached three and a half years old, for his own safety, we had gated off most of the rooms of our house, employed a nursing assistant five days per week, and used a $5,000 wheelchair with a six-point harness to keep him safe in public.
Meanwhile, across the country, another mom, Jenn McNary, faced life with a different rare disease – Duchenne muscular dystrophy, affecting two of her sons. Duchenne, similar to Hunter syndrome, also causes progressive loss of physical function (but no loss of cognitive function).
Our paths would soon cross via social media.
Two journeys. One frustration.
Rare disease drug approval.
When my son enrolled in a clinical trial with a drug called idursulfase-IT, one of her sons enrolled in a trial with a drug called eteplirsen.
As parents, we are first trying to save our own children. But in so doing, we are then trying to save them all.
Both of our sons showed improvement in their respective trials, out of step with their normally progressive, degenerative diseases. However, we both expressed the same fear that these milestones were so unique to our child’s own disease progression, that they were not being captured by a clinical trial system that focused on statistical significance and reproducibility.
Strangers asked us if the drugs were helping our children. Those who knew our kids didn’t need to ask. They knew.
We searched for ways to quantify the improvements we saw. We shared our anecdotal data with the principal investigators and even more so, with the world via social media. We commiserated with other parents in the trials, not to skew or bias data, but to put our heads together about what we were seeing. We were not alone in our observations, or in our fears of the deficiencies of the data collection and analysis in very small patient populations.
But last month, when the FDA released a briefing document highly critical of eteplirsen, our hearts fell.
Because for us, not as emotional parents, but as experts in diseases that heretofore were stealing our children, our evaluation in its simplest form comes down to:
“I know it when I see it.”
We know the drugs work. We’ve seen the journey since the beginning and personally know hundreds of other patients across the continuum of the disease.
Our church members know the drugs work. Seeing our children once a week often gives an even clearer picture than our day-to-day interaction. Each new skill is a pleasant surprise.
Other patient families know the drugs work. The joy and pain of watching another child improve, or even not deteriorate as quickly, is both a salve and a burn to families without access to the drugs.
Our child’s siblings know the drugs work. Our child becomes less about their disease and more about the annoying brother who picks on their sibling.
And if we live in a day and age where a clinical trial system is so unable to capture that efficacy for the FDA, where does that leave us? All of us needing new drugs to save our children or ourselves?
Will anyone believe us when we rise and say, “I know it when I see it”?
If only Potter Stewart served on an FDA advisory committee.
Melissa Hogan is a lawyer, caregiver, and founder of Saving Case & Friends, a Hunter syndrome research and advocacy foundation located in Thompson’s Station, Tenn. She serves as an FDA Patient Representative, regularly writes and speaks on rare disease topics, and recently produced the ProjectAlive.org Hunter syndrome awareness campaign. Jenn McNary is a single mom of four children and currently works as the Director of Outreach and Advocacy at the Duchenne focused Jett Foundation located in Kingston, Mass.
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