It’s Rare Disease Month – a month typically set aside for awareness, advocacy, and recognition of the estimated thirty million Americans living with a rare disease.
But this month has taken an unforeseen turn: with the recent announcements about NIH funding being cut or eliminated, the Rare Disease community is reeling because this directly impacts so many lives.
Including mine.
Ten years ago this week, our daughter, Victoria, was diagnosed with Krabbe disease – a rare, terminal genetic disorder that impacts about 1 in 100,000 people. We were told that our six-month-old baby was dying and there was nothing we could do to stop it. It was too late to even try.
Krabbe disease is rare, meaning there was limited understanding of the disease, and a lack of funding for developing a treatment.
Unfortunately, this is the story for so many families like ours.
Rare Disease Challenges
Rare disease research is extremely costly. With more than 10,000 rare diseases identified to date and small populations for each condition, it is challenging to attract interest in developing a treatment for many of these conditions.
And, for many of these rare conditions (which primarily impact children), the treatments are most effective before symptoms are present, creating a need for early diagnosis through methods such as Newborn Screening, genetic testing, and family history.
It’s all extremely complicated, and, after ten years of actively working in this space, I can attest that it’s not easy to dedicate your life to rare disease advocacy, and it’s often made more challenging by policymakers who don’t understand the landscape.
Medical Research Funding
This is why the recent pausing and slashing of NIH funding for research institutions is alarming. The NIH is the primary investor in scientific research worldwide. It is because of NIH funding that we have become a leader in the world of science and medicine, and how we have developed many breakthrough treatments that have saved and changed lives.
The same people who are suspicious of pharmaceutical companies conducting research are defunding the private university settings where collaborative science takes place. It’s not surprising but it is disappointing, to say the least.
What does indirect funding cover and why does it matter?
There is much confusion about indirect funding from the NIH and what it pays for.
Funding for indirect costs allows research institutions to be more efficient by sharing resources and equipment. It also allows for collaborative science, which creates solutions to the most challenging problems and brings treatments to market. It allows them to stretch their shoestring budgets for the greater good of helping people who are often left behind.
According to Life Sciences Pennsylvania, “Pennsylvania research institutions and small companies received more than $2 billion in NIH funding in 2023 and, in many cases, hold contractual agreements with the NIH. This research also leads to spin-out companies and technology transfer that perpetuate the cycle of innovation in the Commonwealth.”
As it is, indirect grants have remained at the same rate for decades and have not increased for inflation, which highlights the dedication of the researchers who remain in the private sector.
Life Sciences PA also noted, “The announcement that a 15% indirect cost rate that will immediately apply to all new and existing grants has widespread ramifications for our industry and throughout the entire ecosystem. Ultimately, this cut threatens continued research and development in potential treatments and cures for patients.”
It’s not only universities that are impacted by this: it is also impacting public health labs, and Newborn Screening programs, among many. In one state, a public health official reported that if this isn’t reversed, they will have to furlough seventy-five percent of their staff and will no longer be able to add new conditions. Additionally, their deaf and hard-of-hearing services will be drastically cut.
This doesn’t only impact rare, but it affects us disproportionately.
The Importance of Listening to Understand
It is no exaggeration to say that this funding gap will set us back by decades if not remedied or reversed quickly. And, in the rare disease space, time is everything. It is rare to receive a timely diagnosis, and even rarer to have an available treatment (only 5% of rare diseases do). This is why NIH funding matters greatly to us, and to the scientists whose work is funded in this way.
It’s easy to oppose something when you do not fully understand it.
It’s easy to oppose something – or someone – because your political party does.
It’s easy to oversimplify an issue you don’t fully understand to justify the actions being taken.
It’s easy to cheer for a program’s demise when you do not understand its ramifications or believe it does not impact you personally.
It shouldn’t require personal impact for someone to care about an issue that impacts so many, and that’s why our voices as advocates and patient advocates matter. It is our stories that make a difference and change policy. If you are a decision-maker, please listen to understand, not to respond. Hear our stories and try to understand the impact of your decisions.
Rare is nonpartisan and should never be used as a political pawn.
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