Facing a Fatal Disease: A Call for Patient Empowerment in Medical Treatment Decisions

Facing a Fatal Disease: A Call for Patient Empowerment in Medical Treatment Decisions

At just six years old, I received a diagnosis of a potentially fatal disease. By age eleven, I had lost my ability to walk, and now, at 23, I find myself in a battle not only for my life but also for countless others who long for effective treatments.

Tragically, bureaucratic hurdles imposed by the federal government create significant obstacles in accessing vital medical care.

Thousands share my plight in America, as tens of millions grapple with rare diseases. While we seem to be entering a Golden Age of personalized medicine, where treatments are designed around a patient’s genetic makeup, regulatory roadblocks often delay access to critical therapies for years. This situation demands urgent reform so patients can receive innovative treatments without unnecessary delays.

Understanding Duchenne Muscular Dystrophy

My specific condition is Duchenne muscular dystrophy, or DMD. This rare genetic disorder leads to progressive muscle degeneration. Patients typically lose the ability to walk between the ages of nine and twelve, becoming reliant on wheelchairs soon thereafter. As the disease progresses, it affects arm mobility in the teenage years and ultimately impacts vital muscles responsible for breathing and heart function, often leading to death in the mid-20s.

Taking Charge of My Journey

From a young age, I made a conscious decision not to let DMD define my existence. At 15, I established a nonprofit organization named Destroy Duchenne, dedicated to raising awareness and funding for disease research. My journey has also led me to become a bestselling author, public speaker, Hollywood writer, producer, and biotech consultant for several companies. I have earned recognition as a Key Opinion Leader in the arena of DMD research.

Despite my accomplishments, I am not immune to the devastation this illness inflicts. My younger brother, aged 17, is also battling DMD, and my other brother tragically succumbed to the disease at the tender age of 14. The anguish of this condition affects not only those diagnosed but also their families and friends, as it gradually robs loved ones of their presence.

Innovations in Medical Research

Nevertheless, I remain hopeful about the innovations emerging in the medical sector. Working within the biotech industry, I have witnessed numerous advancements that promise to transform our approach to diseases. The integration of artificial intelligence is paving the way for accelerating research, making drug development faster and more cost-effective while also enhancing safety.

In the context of rare genetic disorders, time is of the essence. Early intervention proves to be more effective in preserving muscle function and mitigating the disease’s effects. For instance, younger patients with DMD generally retain more muscle mass compared to those diagnosed later.

The Need for Legislative Change

Unfortunately, the duration of clinical trials can stretch to about ten years. By the time these trials conclude, a patient’s condition may have deteriorated beyond the possibility of meaningful treatment, or worse, they may not survive to see new options become available. This reality underscores the critical need for legislation like the Right to Try for Individualized Treatments. This innovative reform currently enacted in six states empowers both doctors and patients to make decisions regarding when to try investigational new drugs tailored to their genetic profiles.

A Call for Action

Currently, I find myself in a frustrating position. While I am ready and willing to explore new treatment options, the treatment manufacturers express willingness, and a doctor may also support my desire to try, it is regulatory barriers standing in the way that prevent me from receiving potentially lifesaving medications.

This situation feels thoroughly misguided. Doctors possess a far deeper understanding of their patients than bureaucrats situated far away. Why must I navigate a convoluted system to gain permission from government authorities to pursue my own treatment options?

Confronting Mortality

The harsh reality is that Duchenne muscular dystrophy could very well lead to my early demise, likely before I reach middle age. The average lifespan for individuals diagnosed with this condition hovers around 25 years, but this need not be the case.

Empowering Patients for Better Outcomes

It is time to shift the power back to patients and their healthcare providers. As we push for legislative reforms and innovations, we must prioritize patient autonomy and timely access to treatments. For me and many others like me, the difference between bureaucratic approval and a lifesaving treatment can mean everything. Empowering patients will not only foster hope but could also redefine the landscape of rare disease treatment.