Voices of Rare Caregivers

Caregivers for people with rare diseases discuss their challenges.

Janet Richards
Janet Richards struggled to find a the correct diagnosis for her son, who is living with a primary immunodeficiency disease. She later discovered that she was living with the same condition.

Caring for someone with a rare disease carries some of the same demands as a full-time job, according to recently released research. A report from the National Alliance for Caregiving and Global Genes found rare caregivers spend about 37 hours a week providing care. For those who care for a child with a rare disease, that number jumps to 53 hours per week.

Another startling, but perhaps unsurprising statistics uncovered by the report reveals that rare caregivers are a chief advocate for the person they give care to. The study finds 9 out of 10 caregivers report educating healthcare professionals about their care recipients’ condition.

Rare caregiving can be taxing both emotionally and financially. According to the study, more than two-thirds of those surveyed found rare caregiving to be emotionally stressful. Fifty-nine percent said they had exhausted their personal savings by serving as a caregiver.

The Alliance will present the study and policy recommendations to lawmakers in Washington later this year.

The findings echo some of the experiences rare caregivers have shared with us in recent months. We asked them about what it’s like to devote a major portion of their lives to caring for someone with a rare disease and here’s what they told us.

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Janet Richards

Caregiver to son with primary immunodeficiency.

One issue raised by the rare caregiving study is the challenge of navigating the healthcare system. It’s a well-known issue for Janet Richards, who struggled to find a correct diagnosis for her son, Jacob.

“I had a binder that I kept of every lab work, every test result, every doctor visit summary, every list of questions that I had written out that I would take to every doctor, every appointment and say, look it, here’s this result, here’s this scan, here’s this test.  What’s wrong?  Why is this happening?  He’s sick,” she remembered telling doctors.

After five years, she finally got an answer. Soon after, Janet found out that she too had primary immunodeficiency, a diagnosis that came about by knowing the right questions to ask the right doctors.

Michael Johnson, Sr.

Provides care for his wife, Cheryl Blackwell-Johnson, who has hereditary angioedema (HAE).

Cheryl Blackwell-Johnson and her husband, Michael, watching a sunset at the historic Baltimore Inner Harbor.

Michael Johnson, Sr. and his wife, Cheryl Blackwell-Johnson.

“If she's in any type of pain, any type of swelling or anything of that nature, I'm there for her support,” Michael said. “I help her and if she's at work, I go pick her up.  I'm almost like that little cuddly bear thing, I got to hold on to her.”

Michael describes himself as his wife Cheryl’s “backbone” in her struggle with HAE, which can cause painful swelling in different parts of the body. For nearly 30 years, he’s shuttled her back and forth to emergency rooms, attended full-day doctor’s appointments and once spent three days in the critical care unit of a hospital while Cheryl struggled through a serious HAE attack.

“Didn’t go to work, didn't go anywhere until they moved her to another room,” he recalled. “As long as she needs that support, I’m always going to be there for her.”

Lori Kunkel

Raised three sons with hemophilia.

Lori and Cody Kunkel

Lori Kunkel and her son, Cody.

As a mother to three sons with hemophilia, Lori Kunkel is familiar with the time demands that rare caregivers can face.

Lori says people in a rare caregiving situation need to ensure they take time for themselves, “even if it’s just a few minutes each day.” She also advises caregivers to avoid dwelling on the mundane day-to-day  tasks in providing care.

“Try making a game out of them or perhaps inserting laughter,” she suggests. “Laughter makes such a difference in everybody’s day.”