Blog 2: Research for Rare Diseases (or lack thereof)

Hello everyone! For those of you just joining in, my name is Jonna Crocker. I am a high school senior who is making a series of blogs for my philosophy class, discussing the injustices for rare disease patients and what we can do to help. If you have not already, take a look at my first blog post to learn more about rare disease life!

For this blog, I will be talking about the research for rare disease patients. 

When you get diagnosed with anything, you expect there to be a cure or treatment readily available. If you catch a cold, there is cold medicine. If you have cancer, there is chemotherapy, radiation, or other treatments approved and tested. But oftentimes with a rare disease, a solid treatment plan is unavailable. In fact, more than 90% of rare diseases lack an effective treatment, despite scientific advancements over the past few years. 

For the less than 10% that do have an effective treatment, it is rare that the treatment would cure the patient and put them into remission. Instead, oftentimes it is used to manage the condition and only lessen the symptoms. 

But why are there so few treatments available? According to the FDA, there are too many reasons for the lack of drug and device development for rare disease patients. This is due to the complex biology of many of the diseases, and the lack of understanding as to how they affect a person’s body. Most importantly, due to the small number of patients affected by these conditions, there is not a high enough financial incentive to continue the development of medications. Instead, companies would rather put their resources into creating medications that help a large portion of the population so that they can make more profits.

In an attempt to try and fix that, the Orphan Drug Act was passed. This gives companies funds to develop drugs for rare diseases and incentivizes companies to help since they will gain a profit. Although this is a great idea in theory, there still is not enough research being done, or treatments in the process of being developed.

For my rare disease, I had to try countless medications that could potentially work but were not covered by insurance because they were not proven to treat my rare condition. We will be discussing insurance discrimination in a later post, so stay tuned to learn more.

Over 90% of rare disease patients have these very same experiences. There are not enough medications to try, and those that have been proven to relieve some symptoms are likely to not be approved by the FDA or do not have enough research to validate their effectiveness. We need more companies to research for our patients. We need to find cures.