The Challenges Faced by Patients Diagnosed with a Rare Disease

SelectCare Home Care Services of NY joined patients, medical professionals and families across the world to celebrate the 8th anniversary of Rare Disease Day on February 29^th.

While the calendar year is jam-packed with “awareness days,” Rare Disease Day focuses on the challenges faced by patients diagnosed with a rare disease – in the US, that means a disease or chronic condition that affects 200,000 Americans or less at any given time.

This might seem like a drop in the bucket of our population, until you realize just how many diseases fall into this category. The FDA recently stated that there are more than 7,000 rare diseases active in America, impacting 30 million Americans at any given time – for those disinclined to math, that’s 10 percent of America’s total population.

Rare Disease Day organizers estimate that nearly half of these diseases impact children, and that more than 80 percent of these diseases are genetic in origin, meaning that preventing these diseases is nearly impossible with current medical technology.

Although this awareness campaign only started in 2008, rare diseases have been on the national radar for more than 30 years.

President Ronald Reagan approved the Orphan Drug Act of 1983, a landmark decision that created incentives for pharmaceutical companies to develop drugs to treat rare diseases. Prior to this law, pharmaceutical companies had no incentive to research, develop and market drugs that would address rare diseases – since drug development is costly, there was simply no profit in curing these rare diseases, leading to “orphan” drugs.

Following the passage of this law, companies researching these drugs could receive tax incentives, preferential treatment in the US Patent Office, extended rights to be the sole producer of any orphan drug they created, and government subsidies for enhanced research and testing programs.

Historical side note: Like most good things, the Orphan Drug Act has been and continues to be abused by some companies – some billion-dollar drugs like Cialis and Botox have been researched using ODA funding, leading to the law’s initial author, State Rep Henry Waxman (CA-D) calling for tighter regulation of these programs.

The Rare Problems of Rare Diseases

While any diagnosis can be a challenge, people with rare diseases face distinct hurdles: beyond the lack of medical knowledge about their conditions and a continued scarcity of research to find “niche” cures, patients with rare diseases often report that their symptoms are minimized by doctors unfamiliar with a particular disease. As a result, many symptoms of rare diseases are misdiagnosed as forms of Conversion Syndrome.

Additionally, families attempting to advocate for a loved one with a rare disease are often accused of “Doctor Shopping” i.e. the practice of going doctor-to-doctor until you receive the diagnosis (and prescriptions) you desire. This stigma can make a tough situation completely demoralizing for many families.

Fortunately, the tide is turning. Rare Disease activists of all ages are beginning to make their voices heard. Most notably, 16-year-old Sira Stronglin, who runs the Sick Chick blog and online support network, spent February 29th on Capitol Hill educating policy makers about the unique challenges faced by those with rare diseases.

It’s easy to see another awareness day on the calendar and roll your eyes, but there is some true value in making a lot of noise out of an otherwise quiet problem. In fact, the Orphan Drug Act’s passage is often credited to two episodes of the early 80’s medical drama Quincy, M.E., which raised awareness to this issue. The show’s star, Jack Klugman, even spoke to Congress while the law was being considered.

We at SelectCare Home Care Services of NY stand ready to assist New York families no matter what diagnosis they face. We understand that every patient deserves honest, compassionate care that reflects their needs and desires.

To learn more about how SelectCare can help your family, call us today.