The Barriers to Cures: A Personal Perspective on Rare Diseases and Regulatory Roadblocks
At the tender age of six, my life took a devastating turn when I received the diagnosis of a fatal disease – Duchenne muscular dystrophy (DMD). This rare, genetic disorder relentlessly attacks the body’s muscles, relentlessly stripping me of my ability to walk at age 11. Today, as I approach 23, I find myself engaged in a relentless battle for survival – a battle not only for myself but for countless others who desperately yearn for a cure.
Unfortunately, the federal government has emerged as a disheartening obstacle in our path. It is not just me; tens of millions of Americans grapple with the struggles associated with rare diseases. Despite the dawn of a promising era dubbed the "Golden Age of Personalized Medicine," where treatments are meticulously tailored to a patient’s unique DNA, regulatory hurdles often force us to endure years of agonizing waiting for therapies that could potentially transform our lives.
It is imperative that we break free from this bureaucratic quagmire, empowering patients with the freedom to access these cutting-edge treatments without delay. For those of us battling rare genetic diseases, time is of the essence. Early intervention is crucial, as it presents the greatest opportunity to preserve existing function and counteract the debilitating effects of disease progression.
In the case of DMD, younger patients tend to possess greater muscle mass and diminished fibrosis (scar tissue) and fat infiltration, biological factors that significantly impact mobility. Tragically, the disease relentlessly advances, leaving some patients on the brink of death, where every passing day amplifies the distinction between life and death.
The traditional clinical trial process for new treatments can be an arduous undertaking, often spanning a decade or more. By the time these trials reach completion, the disease may have progressed beyond the point of meaningful intervention – or even claimed the life of the patient.
We urgently need legislative reforms like the Right to Try for Individualized Treatments, which has already been enacted in six states. This innovative approach empowers doctors and patients to collaboratively make critical decisions regarding access to experimental new drugs customized based on genetics.
Currently, even with the consent of the patient, the manufacturer of the treatment, and the administering doctor, the federal government wields the authority to deny me access to potentially lifesaving treatments. This is a perverse inversion of logic. Doctors, who intimately understand their patients’ conditions, should possess greater decision-making authority than distant bureaucrats who have no personal connection to the patient’s suffering.
I am fully aware of the reality that I will likely succumb to this disease before reaching middle age. The average lifespan for individuals with DMD is a mere 25 years. However, it does not have to be this way. We have the knowledge, the technology, and the unwavering determination to conquer this disease.
The government’s continued obstructionism is an affront to the millions of Americans who live with rare diseases. It is a cruel and unnecessary barrier that stands between us and the treatments that could save our lives. We demand the right to try, the right to hope, and the right to fight for our own survival.
