Today is World Duchenne Awareness Day. I wish I had no idea what Duchenne was. Unfortunately our lives turned upside down one January day a couple of years ago. Our middle son Peyton was diagnosed with Duchenne Muscular Dystrophy (DMD) at the age of 6. He is now 10 years old. DMD is an aggressive, degenerative, and terminal childhood muscle wasting disease affecting boys. It is extremely rare (but possible) for girls to have DMD.
When most middle school children are preparing for teenage years and adulthood, the natural history of this disease is:
- loss of ambulation and being bound to a power wheelchair at the age of 12
- full loss of mobility (including ability to feed oneself) in the mid to late teens
- tragically short life expectancy by age 24
This is a horrible, debilitating disease that no child should have to endure. Ethan and I would gladly trade places with him if it were possible. DMD is often a genetic disease unknowingly carried by the mother. There are cases, such as ours, where the mother is not a carrier and the disease is caused by a random genetic mutation. Unfortunately, there is no cure. Medically researchers are in the infancy of the development for a treatment.
Despite all of this, there is hope. January 2015, Peyton was admitted into a clinical trial for a drug called Eteplirsen. This drug is meant to slow the progression of the disease and it is the first of its kind. It is by no means a cure or a perfect treatment. Part of Peyton’s DNA and genetic code for muscle-building is missing. DMD patient’s bodies do not produce a protein call dystrophin. In the DMD world, everyone knows which code their child is missing. Peyton is missing exons 45-50. It is actually very complicated and Peyton happens to be in the biggest block, known as EXON-51. EXON 51 happens to be approximately 13% of all the DMD patients.
Based on Eteplirsen, we now have hope that our child will live longer and have a better life. He is one of the lucky ones. This drug is very expensive, we have been told Eteplirsen ranges in price between $2000 – $5000 for each treatment, each week, for each child, indefinitely. Peyton goes to UCLA weekly to have the drug infused through a port in his chest. We have allowed him to make the choice and Peyton chose to be a human guinea pig in hopes that this will not only help him, but thousands, if not millions, of other DMD children. We believe this new approach to combating DMD will ultimately help others with different diseases.
There are twelve boys who have been on the drug for over 4 years and 10 are still walking into their teens. This is unheard of in the DMD community. We have seen positive results in Peyton. Not only has the disease progression stabilized, but he is actually getting stronger and there have been no side effects whatsoever.
In April of this year, researchers, doctors, advocates and DMD families, including Ethan and Peyton, descended on Washington D.C. to plead our case for the approval of Eteplirsen to the FDA. We are still waiting patiently, over 100 days past the deadline set by the FDA, for an answer. A denial of this drug will be devastating for our community and a death sentence for Peyton. We wish we were being dramatic, but that is the absolute truth and something that haunts us every day. We have hope that they will do the right thing and approve Eteplirsen. If approved, the pipeline opens up for other kids to have access to the drug.
The United States Congress and United States Food and Drug Administration (FDA) have created guidelines for “Compassionate Use” and the Orphan Drug Act (ODA). Duchenne Muscular Dystrophy is an orphan disease because it affects such a small population (under 200,000) compared to other diseases such as cancer. A normal drug takes on average twelve years to get through the FDA process for safety and effectiveness. Under those guidelines, that is a death sentence to DMD boys. The drugs we have today will not reverse the consequences of muscle wasting due to waiting for the FDA and years of data. It took approximately 25 years of data to show that steroids had a positive effect on DMD patients. In 2005, steroids became standard care for DMD patients.
We can only speculate as to the reason the drug has not yet been approved since it is working. From our perspective, there appears to be a bureaucratic battle within the FDA. The FDA is over 90 days past the deadline they set for a decision. One of the big reasons some in the FDA are against approval for Eteplirsen is to protect against the approval of a drug that does not work, known as a “Type I error.” However, what about failing to approve a drug that does work. That is known as a “Type II error.” In a recent article by Alex Tabarrok, “Is the FDA Too Conservative or Too Aggressive?” Tabarrok stated, I have long argued that the FDA has an incentive to delay the introduction of new drugs because approving a bad drug (Type I error) has more severe consequences for the FDA than does failing to approve a good drug (Type II error). In the former case at least some victims are identifiable and the New York Times writes stories about them and how they died because the FDA failed. In the latter case, when the FDA fails to approve a good drug, people die but the bodies are buried in an invisible graveyard.
Several people we have met during this process have provided many theories as to why the drug has not been approved, those mostly being politics and big money. FDA may want to protect the bureaucratic process. The drug is expensive, how would that effect health insurance and will it pave the way for more expensive drugs for other orphan type diseases. The company that has developed Eteplirsen is a small drug developer. A denial of the drug could devastate the bottom line for the company and therefore make it cheap to purchase. It takes approximately one billion dollars to bring a drug to market. If a small company has the ability to enter the market, it creates more competition for large drug companies that are not as efficient. It also decreases the barriers to entry for drugs in America. It bypasses many of the protocols normal drugs have to pass because Eteplirsen treats a terminal orphan disease without another treatment. Many medical school administrators may not be as willing to advocate for Eteplirsen due to grants and research funding provided by large drug companies. In actuality, we really do not know the reasons behind the delay, all we know is that boys are still dying.
Soon after Peyton’s diagnosis we founded Peyton’s Project. We were devastated by the diagnosis but decided we were going put our efforts in to making a difference and his life mattered. Our goal is to raise money to fund research for DMD as well as provide quality of life equipment to kids who don’t have the means or access. This is a VERY expensive disease. Their life span may be short but it doesn’t have to be isolating and lonely when there are devices that allow them to participate in life instead of watching from the sidelines. Unfortunately, most families don’t have the means to provide these devices and insurance won’t pay for them.
When it comes down to it, we are parents. A Mom and Dad trying to save our son’s life; trying to raise Peyton’s brothers with compassion and understanding without getting lost in the shuffle; trying to work two demanding jobs so we can provide a better quality of life for our boys; trying to make a difference in the life of our child and the lives for all the other families and children affected by this aggressive disease. Raising money for research and adaptive equipment is just a small way we can give back to the DMD community that embraced us when we were reeling from this diagnosis and continues to embrace us in our journey.
Peyton is a beautiful child with a heart of gold and a smile that lights up a room and leaves an impression on your heart. Once you meet him, you will never forget him. He is worth the fight and we thank you so much for your support!