Annie Kennedy, Chief of Policy, Advocacy, and Patient Engagement for EveryLife Foundation for Rare Diseases, describes a new study showing the economic issues correlated with a delayed diagnosis of a rare disease.
Transcription:
Hi. I’m Annie Kennedy. I’m the Chief of Policy, Advocacy, and Patient Engagement with the EveryLife Foundation for Rare Diseases. We’re an evidence-based policy organization that comprises of a coalition of patient advocacy organizations and other stakeholders in the rare disease environment that are really focused on eliminating the diagnostic, regulatory, and excess hurdles that face our rare disease community here in the US.
There absolutely are misconceptions about, first of all, who the rare disease community is, and how many people comprise our rare disease community, and then the costs incurred by those living with rare diseases, and then the costs of treatments for rare diseases.
We’ve really been focused on writing the course and making sure that we have real data to inform those decisions for not just the treatment options and how we invest in developing treatment options and when those treatment options are available, but also how we invest in the diagnostic technologies available for patients.
The first thing we did is we had a national economic burden of rare disease study that I was here to talk to you about previously that really helped us establish that we have a population of more than 30 million Americans living with rare diseases, and we knew that was an underestimate. Then in 2019, the cost of living with a rare disease was close to $1 trillion in the US for those with rare diseases.
But most importantly, from that data, we found that 60% of those costs were being shouldered by families, not costs being shouldered by the healthcare system. It’s for families who are diagnosed with a rare disease, the lion’s share is coming out of pocket for families.
But we also found in that study that the diagnostic odyssey for those with rare diseases is untenable and lasts more than six years, and often includes providers out of state, specialists, and a long, winding road that often, for many, looks like, if you remember, that childhood game of chutes and ladders where you’re sent on one path and then you’re dropped into another.
We wanted to better understand what some of those costs were for families, and what of those costs were avoidable so that could we make the case for deploying some of those technologies we know we have today through diagnostics, personalized medicine, genomics, and make the case for investing in shortening or eliminating that diagnostic odyssey?
That’s what brought us to this study. We looked at seven diseases. Instead of looking at the broad ecosystem of rare diseases, we needed to look specifically at rare diseases for which we had a beginning and an end to the diagnostic odyssey so we could understand those costs.
We looked at diseases that both were pediatric-onset and later onset, because, of course, we’re not looking just to make the case for pediatric rare diseases, but for those for whom their presentation is later in life as well. We also looked at diseases for which we are already looking at shortening that diagnostic odyssey through newborn screening.
Of the seven diseases, five were pediatric onset, two were later adulthood onset, and three are screened for in the newborn period. What we found was that the cost for families is over $220,000 in medical bills, lost income etc, but can climb as high as $517,000 across the seven diseases that we studied. This is really a best-case scenario, because, as I said, we were looking at diseases for which we had a beginning and an end in that diagnostic odyssey, and for which we have a confirmed diagnosis.
In the rare disease community, most patients don’t have that finite beginning and end. Many patients are on those diagnostic odysseys much longer than six years. But it was important to us to begin to look at what those avoidable costs could be and how, as I said in the beginning, we could begin to streamline and shift those costs to, again, ensure that we could have better outcomes for patients and reduce some of the burden of living with a rare disease overall by getting people to better, more appropriate care sooner.
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