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We provide you with articles on brain science, timely topics, and healthy living for those affected by neurologic challenges or seeking better brain health.  

Caregiving
By Paul Wynn

Advice for Caregivers of People with Rare Diseases

Family members who look after someone with an uncommon disease face unique challenges but also find a special network of doctors and other caregivers.

The Lapin family
Eve Lapin with her husband and two sons. Elliott (right) has adrenoleukodystrophy. Courtesy The Lapin Family

In 2000, after three years of multiple visits to many specialists and several misdiagnoses, Eve Lapin was told that her oldest son, Oliver, then 8, had adrenoleukodystrophy (ALD). The brain disorder destroys myelin—the protective sheath surrounding the brain's neurons—and causes vision loss, potential seizures, and an inability to walk or speak. Like many caregivers of children with rare diseases, Lapin learned everything she could about the disorder, including that she was a carrier of the gene that causes ALD. After her two other sons underwent genetic testing, the middle one, Elliott, was also diagnosed with the condition.

By the time Oliver was diagnosed, his disease had progressed beyond the point at which he could benefit from any experimental therapy. For the next four years, until his death in 2004, Lapin cared for Oliver around the clock.

Elliott, who was diagnosed before he had any symptoms, had a stem cell transplant in 2002. The healthy cells from his donor produce a protein that people with ALD lack and can potentially halt the disease's progression. Now 26, Elliott uses a wheelchair but lives independently and writes for the Houston Chronicle.

People with a rare disease typically see one specialist after another before getting an accurate diagnosis. Their caregivers “often feel like they're living in a medical mystery show,” says John Schall, CEO of Caregiver Action Network, a nonprofit organization based in Washington, DC. “They feel uncertain about the future and how to manage their loved one's condition.” Around one-third of the 7,000 rare diseases—conditions that affect fewer than 200,000 people in the United States and may affect only a few hundred—have a neurologic component, according to the National Institute of Neurological Disorders and Stroke.

Patients with rare diseases and their caregivers usually can find at least one association or foundation dedicated to their particular disorder. These nonprofits help educate families and patients, provide materials and resources, host conferences, fundraise for research, and offer support groups.

Patricia and Kimberly Wood
Patricia Wood with her daughter, Kimberly. Courtesy The Wood Family

Patricia Wood founded the NBIA Disorders Association after her daughter, Kimberly, was diagnosed in 1989 at age 3 with idiopathic neurodegeneration with brain iron accumulation (NBIA). A group of genetic neurologic disorders, NBIA is characterized by abnormal accumulation of iron in the basal ganglia, a collection of structures deep within the base of the brain that help regulate movements. The group held its 11th family conference in April virtually with 175 families from 27 countries. “It's our mission to make sure no family is forced to journey alone with these rare diseases,” says Wood, a resident of San Diego.

The Bobby Jones Chiari & Syringomyelia Foundation has been a lifeline for Steve and Pam Fenner of Glen Allen, VA. Pam and their two children have Chiari malformation, a disorder marked by defects in the base of the skull and cerebellum that contribute to neck pain, muscle weakness, and seizures. “Being part of the foundation and connecting with other families have given us the strength to remain positive despite many setbacks,” says Steve.

Educate Yourself

If you are a caregiver for somebody with a rare condition, knowing as much as possible about the disease helps you understand what to expect and how to prepare, says Veronica Bonfiglio of Fremont, CA, whose son was diagnosed at age 10 with pantothenate kinase-associated neurodegeneration (PKAN) in 2003. The condition's progressive degeneration of the nervous system and buildup of iron in the brain can lead to muscle contractions, vision loss, and problems with speaking, swallowing, and chewing. “After Brent was diagnosed, I absorbed every bit of information about PKAN and talked to other families,” says Bonfiglio. “Knowledge gives me the strength and confidence I need to be a better caregiver for my son.”

Lapin, who lives in Houston, describes a similar journey: “We educated ourselves about the disease to find the best options to help our sons,” she says. Despite help from family friends in the medical field, the Lapins felt very much on their own. Through her research, Lapin learned about stem cell transplants and realized it was too late for Oliver, but Elliott was still eligible.

Look for Specialists

To find a doctor who understands the condition, reach out to online groups or check with well-known institutions such as the Mayo Clinic, the Cleveland Clinic, and children's hospitals. Wood searched far and wide, eventually locating experts at Oregon Health & Science University in Portland, 1,000 miles from her home in San Diego.

Elizabeth Jalazo, MD, a trained pediatrician and now a clinical geneticist at the University of North Carolina in Chapel Hill, was chief resident at the Johns Hopkins School of Medicine in Baltimore when her daughter, Evelyn, was diagnosed with Angelman syndrome in 2015 when she was a year old. Children with this disorder are developmentally delayed and most do not speak, but they often have happy, energetic personalities with infectious smiles.

Despite having access to preeminent specialists at Johns Hopkins, Jalazo still found herself seeking answers. She eventually traveled to Massachusetts General Hospital in Boston with Evelyn for multiple appointments with Robert Seibert, MD, one of the top Angelman syndrome experts. “We would take the earliest flight to Boston and spend all day there and take the last flight home,” recalls Jalazo. “They were beyond-tiring days, but it was worth going there to get the best care for Evelyn.”

Share Your Expertise

Almost 90 percent of caregivers who tend to someone with a rare disease said they educated health care professionals about the condition, according to a 2018 report developed by the National Alliance for Caregiving in partnership with Global Genes. “These caregivers often know more about the condition than their health care team,” says Schall.

Approach doctors as allies even when they don't know much about the disease, advises Joel A. Salinas, MD, a cognitive behavioral neurologist at NYU's Grossman School of Medicine. “The more compassionate and collaborative you can be with providers, the more they'll feel they're part of the team,” he says. “They will help you the absolute best that they can.”

Bonfiglio has a well-rehearsed speech she launches into every time she meets a new provider who has never heard of her son's disease. “Whether it's the dentist, physical therapist, foot doctor, emergency department doctor, or home health aide, there's always someone who needs to understand it better.”

Caregivers can expect to educate and train home health aides, personal health assistants, and visiting nurses about their loved ones' special needs. “I spend the first few shifts with the nurse going over everything that I do for my daughter until I feel comfortable not being in the house,” says Wood.

Create a Community

“It's so important for caregivers to find support and get connected with others who understand their lives,” says John Grohol, PsyD, who founded NeuroTalk, an online support group, in 2006. Wood says other caregivers frequently tell her that the NBIA patient community feels like an extended family. “It's such a positive thing to have others who understand exactly what you're going through and help you find answers a lot faster.”

Doctors can be part of that community as well, says Bruce H. Cohen, MD, FAAN, director of the NeuroDevelopmental Science Center at Akron Children's Hospital in Ohio. He recently received a high school graduation announcement from a patient he has treated since infancy. “To be able to see her graduate from high school and go to college, knowing how sick she was and all her trials and tribulations, is one of the joys of my practice,” he says. “These aren't just patients, they're family.”

Guard Your Own Health

Looking after someone with a rare disease is a full-time commitment that leaves caregivers with few moments to themselves. “We know that caregivers face an exhausting journey, so it's important for them to come up with a plan to take care of themselves and remain healthy,” says Dr. Cohen.

According to a survey by the National Organization for Rare Disorders (NORD), people spend more than 40 hours a week on average on caregiving. In 2019, NORD launched a program that provides up to $500 annually to families so they can hire a respite caregiver. “This program allows caregivers to take time away while ensuring that their loved ones are well cared for,” says Jill Pollander, director of patient services at NORD.

“Because loved ones with rare diseases often need round-the-clock care, caregivers end up ignoring their own health,” says geriatric social worker Rona Bartelstone. She advises family members to identify their collective and individual strengths to determine how each of them can contribute so it's not the responsibility of one person.

Bartelstone also encourages caregivers to hire an aide or ask a friend or other family member to watch their loved ones for a few hours or to do one small activity a day. “There are times that even dedicated caregivers have to temporarily walk away from the situation to reclaim a sense of self and get recharged.”

Resources for Caregivers for People with Rare Diseases