Protecting the Future of Rare Disease Care
Recently, the Department of Health and Human Services (HHS) terminated the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). Since 2003, the ACHDNC’s role has been to advise the HHS Secretary in recommending states to include specific disorders in their newborn screening1 panels, along with technologies, policies, and guidelines.
When the news about the ACHDNC termination came out, it raised significant concern in the rare disease community. Eliminating the ACHDNC means that states are left with no clear, evidencebased guidance, increasing the risk that children with rare but treatable conditions will go undiagnosed. This action by the HHS will exacerbate our lack of knowledge about rare diseases. It reminded me of my own feeling of helplessness when I encountered my first patient with a rare disease.
During my medical student years, I studied multiple common conditions.
However, rare diseases were never brought up in the classrooms. It’s not uncommon for medical students around the world to not have any information or interactions with patients who have one of more than 10,000 possible rare diagnoses.2
I was a medical student at the Okhmatdyt Children’s Hospital3 in Ukraine—which was bombed during the Russia-Ukraine war4 on July 8, 2024— when I met a young boy with a rare neuromuscular disorder. At only eight years of age, he had already spent most of his life in multiple hospitals. Without an accurate diagnosis or effective treatment, we could only offer him supportive care while witnessing his diminishing quality of life. During my residency, I spent a significant amount of time at an oncology center in Kyiv. While I had rare disease patient encounters, accurate diagnoses were sparse, and most of our patients were referred out to specialized centers or abroad.
When I moved to the US, I knew that I would not be able to practice medicine because the healthcare system here has an entirely different patient care structure. After graduating from Johns Hopkins University,5 Market Access presented a unique opportunity for me. I can apply my clinical background, passion for medicine, and desire to help patients while also helping life sciences companies develop and execute product launch strategies and lifecycle management.
While significant strides in scientific discoveries have been made and we have a deeper understanding of rare diseases, this administration is now creating barriers to continuing these advancements. The recent HHS cuts, the tariffs’ impact on health systems and pharma investments, and even pricing reforms could push our focus on rare diseases backwards. With the termination of the ACHDNC, which gave patients the voice they needed to be heard, it is up to the rare disease community to take on that role.
Ensuring that patient needs are conveyed through advocacy, congressional representatives, and other stakeholders will protect the progress made to date and prevent stalled efforts or lost achievements.
The life sciences industry must work with patient advocacy groups to make certain that patient voices are translated into clinically meaningful therapeutic advancements. We must continue to work hard and persevere.
