Bridging Health and Social Care for Rare Disease Day 2019

Rare Disease Day is held annually on the last day of February to raise awareness about rare diseases. This effort is targeted at the general public as well as those who influence legislation, research, and healthcare decisions that affect rare disease patients. The first Rare Disease Day took place on February 29, 2008. Since this day only occurs every four years on a leap year, it signifies the rarity of rare disease.

The theme of this year’s Rare Disease Day is “bridging health and social care”. This addresses the need for better coordination of all aspects of rare disease care including medical, social, and support services. The theme sheds light on how performing daily tasks can be difficult for rare disease patients and their caretakers. Activities such as cooking a meal, shopping, and cleaning the house can be difficult or impossible for someone with a disability.

A European-wide survey by Rare Diseases Europe found that 8 in 10 rare disease patients and caretakers have difficulty completing these daily tasks. Another striking takeaway from the survey is that compared to the general population, three times more rare disease patients and caretakers reported feeling unhappy and depressed. As a response to the theme of Rare Disease Day 2019, we asked our readers on Facebook, Twitter, and LinkedIn whether their personal experience as a rare disease caregiver reflects the survey results. Here are some of the answers we received:

Amy* is a mother of three, including one child with a rare disease.

She says “I spent so many hours in the beginning trying to figure out what was wrong with my son. I fought so many doctors, enduring their internal rolling eyes and closed ears, begging them to listen to me. I was working two part time jobs, running my middle child from doctor to doctor. Getting hit with high co-pays, prescriptions, procedure bills. Trying to not neglect my other two children and husband. Trying to not let my work suffer. Always feeling less than everytime I had to call out. Apologizing for constantly taking time to arm myself with knowledge and talking about his illness.” She adds that “If this were all for myself, I would have just given up but he's nine and can’t fight for himself. So, I just keep moving.”

Karen, the mother of a child with Behcets, says “I spend several hours a week just coordinating care—my youngest has four main specialists (GI, Rheum, Pain, & Neuro) and then another ten or twelve for the different organ systems that her disease impacts. The lack of coordination of care is unrelenting and made worse because there is not real standard treatment for her disease—and because it’s so rare there are no protocols or vehicles in the system of care to make sure that all of the parts make a whole—that falls on me as her mom.” Nancy mentions that she is heavily involved with advocacy and awareness, both in providing support for other caregivers and legislative advancements for rare disease patients.

All of the caretakers who responded to us feel frustrated with the amount of responsibilities associated with taking care of a rare disease patient. Caretakers are often parents or family members of rare disease patients, and the brunt of responsibility falls on them. Most importantly, the caretakers we heard from all share an immense love for their children that allows them to continue fighting and providing care in the face of hardship.

Though there is no quick fix to the large burden felt by caretakers, different techniques can be used to reduce the unhappy, overwhelmed feelings that are so common. Some caretakers find relief through acts of self-care like playing a game, sticking to an exercise routine, and maintaining a social life. Others seek to expand their positive influence by becoming involved with advocacy and legislative reform.

While the feelings of frustration experienced by caretakers are natural, we can strive towards balance by focusing on the positive whenever possible. Stories like the ones we received from our readers are essential for raising awareness about rare disease. In support of Rare Disease Day 2019, share these stories of rare disease caretakers and continue to consider the theme of bridging health and social care.

• All names have been changed to protect privacy.

Author Bio: Zoe Mandese is a biologist who is enthusiastic about using genetic data to improve lives. In her day job, she works with DNA sequencing and analysis. Zoe is volunteering with the Rare Genomics Institute as a copywriter and blogger writing about the complex factors surrounding rare disease.