When Caring Is Personal: Insights from Rare Disease Caregivers

Mary Jane, the award-winning play by Amy Herzog and starring Rachel McAdams, just ended its run on Broadway last month. It is the compelling story of the mundane life of a single mom caregiver of a child with a rare disease, and her interactions with many women across a wide range of roles.

I didn’t have the opportunity to see the play, but from what I’ve read, it captures what caregiving is all about. From the review in The New Yorker, you get a taste: “Despite Mary Jane’s fantastic organizational skills—she has to be organized in order to take care of her son, and get as much out of the healthcare system as she can—her extreme capability is also a way of obscuring her own needs.”

At Rare Patient Voice, we surveyed 735 family caregivers of patients across dozens of rare diseases in December, 2023. What we found will not be news to caregivers, but we can support Amy Herzog’s art with the science of our findings.

Mary Jane is a woman taking care of her young son. We found over 90% of rare disease caregivers are female, and a majority of the loved ones they care for are male.

The voice of the caregiver that comes through loud and clear from the survey results is the overwhelming time commitment required of caregivers. By far the greatest impact on family life is the time commitment, mentioned by over two-thirds of respondents. Caregiving is a lot of work! On average, caregivers reported performing more than 8 tasks, such as medication management, housekeeping, meal prep, transportation, companionship, etc. You can see that each “task” is actually multiple tasks.

Because of this large time commitment, other things fall by the wayside. Caregivers reported they are unable to pursue hobbies, and they are unable to spend time with other family members. As one mentioned, “My daughter’s schedule and needs are the first to go into our schedule, and all other family and sibling needs trickle in. Sometimes it’s hard to manage.”

Another said, “My husband and I have had to ‘divide and conquer’ parent so one parent could be with our other children and one could be with my child with the rare disease.” One summed it up well, “We adapt and make it work, but we are limited in our travel, food choices, friends we keep, and time we have available.”

How does one give full attention to their profession if they are taking care of a loved one with a rare disease? Not very well, according to our panel. Nearly two-thirds revealed that they are not as financially well off as they would have been. Many were forced not to seek employment, or couldn’t seek better employment or educational opportunities.

Some were forced to stop working, or had to work part-time. Others missed out on promotions, or stayed in a job they would have rather left. Only one in ten said they didn’t suffer from any employment/career/education issues.

Those not in the rare disease community might be surprised to learn of the great difficulties that rare caregivers have in dealing with medical professionals. It is a bit of a love/hate relationship. Treatments and cures wouldn’t be possible without the determination of the medical community.

However, the lack of awareness and understanding among health care professionals about rare diseases causes friction. Nearly 80% of caregivers reported that they know more about their loved one’s disease than some of the medical professionals they encounter. They’ve had to tell medical professionals that they are wrong – not an easy task.

They’ve had medical professionals not believe them. Rare caregivers often tell us that, completely unexpectedly, they had to become experts in their loved one’s disease. Many go on to found patient advocacy groups for the condition. A few have even established pharmaceutical companies to work towards a cure. But that specialized knowledge is not always appreciated by health care professionals.

A caregiver told us, “I have felt as though I am threatened by medical providers if we do not provide care the way they want us to, even if the care they are suggesting is not the best care for our loved one.” Another one said, “I have learned to stand my ground, especially when medical professionals have argued with me.”

The 24/7/365 burden of rare disease caregiving not surprisingly also carries an emotional impact. Large majorities of caregivers reported suffering from anxiety, caregiver burnout, and emotional distress. About half feel isolated and depressed. But less than half have sought help for their emotional/mental issues. And caregiving can take a physical as well as emotional toll. As one told us, “My own health has suffered due to taking care of my loved one.”

And while some reported that caregiving for the rare disease brought their family closer together, others noted it caused marital difficulties and even marriage failures.

The difficulties of caregiving have been well-documented in our results. What would make caring easier? Caregivers need to be able to take a break, but need to be assured that anyone filling in for them understands the details of the patient’s situation. And they feel that is unlikely.

As one put it, it would help if they had the “ability to have a ‘break’ but have the patient with knowledgeable, qualified individuals.” Many mentioned that having financial assistance would help. Also brought up was increased awareness, desiring that “school healthcare providers and regular healthcare providers be more knowledgeable.” And “more societal support and understanding of the role of caregivers.”

We recommend healthcare researchers learn from these findings to develop empathy for the caregivers with whom they interact. It will go a long way toward teasing out valuable insights from their responses.