Stirred by the 2014 Patient Advocacy Summit to Talk About the High Cost of Treatment

September 29, 2014

I tuned into the RARE Patient Advocacy Summit via the free livestream webcast specifically to hear Dr. Jim Olson’s Innovations in Science Presentation Brief on Project Violet. I was drawn by Dr. Olson’s public commitment to establishing a drug platform that will “rapidly and inexpensively” develop treatments for patients with rare diseases without selling out to a single pharmaceutical company.

The banner behind the speaker’s podium which read, “95% of Rare Diseases Do Not Have a Single FDA Approved Drug Treatment”, reinforced the timeliness of the presentation. At the conclusion of the talk I couldn’t help but wonder what it means to be part of the minuscule 5% of the community with a treatment. There are in fact several therapies approved by the US Food and Drug Administration (FDA) for the treatment of my condition, type 1 Gaucher disease.

With the newest FDA approval breaking news just one month ago, I felt it was time to consider my role as a rare disease advocate and be willing to speak out about the benefits of having treatment but also the less desirable topic of price. Not just the price of my drugs but whether or not the high costs hinder or heighten research for other rare diseases.

On the site My Invisible Life, I shared my story and my thoughts on the high cost of treatment.

“I have a rare genetic disease that’s been making the news lately. Likely you didn’t catch the big story unless you have a vested interest in the pharmaceutical or biotech industry. For those of us with type 1 Gaucher disease, the most common form of Gaucher, a condition that affects around 10,000 people worldwide, the niche news story should certainly have garnered our attention and reactions. As I tried to make sense of the emerging reports, I quickly went from being speechless to feeling silenced.

The first wave of August headlines proclaimed the USFDA (United States Food and Drug Administration) approval of a new oral treatment for type 1 Gaucher disease. Some reports incorrectly indicated that this was the first oral treatment for this disease. The advancement is slightly more subtle, in that it’s the first oral treatment actually approved as a first-line therapy, putting it on par with enzyme replacement therapy (ERT), the standard Gaucher treatment that is administered intravenously. While I am not a doctor, and I have not spoken to my doctor about this future treatment option, I took this to mean that this new drug was considered by the reviewers as a highly effective option. Having drawn this conclusion, the news represented a significant medical breakthrough, at least to my world view. While I don’t reside in the United States, I know that the FDA stamp of approval is a critical step in the global drug review process, likely to be followed by similar decisions in other world regions in the coming months. I immediately shared the incredible news with my family and felt extremely fortunate to be living at this period in history, with real treatment options available for a genetic disease my parents had never even heard of when I was first diagnosed.

With an overwhelming sense of gratitude, towards the dedicated work of the scientists that made all this possible, I couldn’t help but think back to the early 90s, when my family initially found out about the first available treatment for Gaucher and the significant change it meant to our lives. I had been diagnosed with Gaucher as a young child, and at that time, and for years to come, there was nothing that could be done to prevent my health from deteriorating. My liver and spleen were grossly enlarged. I was always covered in bruises. I grew up having severe pain in my bones and I felt tired all the time. Being able to start ERT as a teenager was unquestionably a life changing event, a medical miracle for my family and for the type 1 Gaucher community. Within a few years on treatment, most of my symptoms were reversed and my condition was considered stable. Despite having to continue with regular treatment, intravenous (IV) infusions on a bi-weekly basis, I was now a “normal”, healthy person, and I expected to be able to stay this way for the remainder of my life.

Access to a treatment that works has certainly provided me with a sense of control over my health but perhaps a false sense of security, when I can never cover the cost of my own medical bills. While I’ve become comfortable letting people know that I have a rare disease, and even made a digital story to share my experiences, I’ve always remained guarded in talking openly about the price of my on-going treatment. No matter how sympathetic people are, including those closest to me, will they really understand a drug that costs on average around $300,000 (US) a year, for a single person? Is my health worth this much to the public system? This is an incomprehensible price tag, which even most wealthy individuals, in developed counties, would be unable to sustain for the rest of their lives. These treatments, today with several available for type 1 Gaucher, are not cures. You are looking at a never ending treatment plan, that even holding the biggest fundraising event would be unlikely to meet the lifetime costs. These are drug costs for governments and insurance companies to strategize around, not normal individuals. But is it a safe place to reside, having to always rely on favorable government policies for your health destiny?   

Read more at the original source.  

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