When a Rare Disease Disrupts Midlife: What Caregivers Need to Know

How to provide care through the uncertainty that follows a rare-disease diagnosis

Paul Wynn,

AARP

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Published August 11, 2025

Mary Ann Eastman, 73, was diagnosed with a rare disease called scleroderma 15 years ago. Her husband, Jonathan Eastman, 78, stepped into a supportive role as a caregiver.

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Mary Ann Eastman was 58 when her fingers began turning ghostly white in the cold. At first, she chalked it up to Utah’s harsh winter, but the persistent pain and aching eventually drove her to seek medical advice.

Within two weeks, she received a diagnosis that would upend her life: scleroderma, a rare autoimmune disease that causes the skin and connective tissues to harden and tighten, often affecting vital organs like the lungs and heart.

For those in midlife, planning for retirement, helping their kids through college or thinking about future travel plans, a rare-disease diagnosis can come as a devastating shock, upending every aspect of life.

Mary Anne was forced to reimagine the retirement they had planned in the Mountain West.

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Mary Ann, now 73, and her husband, Jon, 78, were forced to reimagine the retirement they had planned in the Mountain West — rethinking their careers, finances and entire future together. Rather than give in to their fears, they started to rewrite their plans. Jon retired from his job as a union electrician, and then, soon after, Mary Ann left her job in commercial real estate.

“It would have been easy to despair, but for us, it ignited a desire to live fully and embrace every moment,” says Jon. “We decided to create a list of places we wanted to see, including Europe, national parks, Alaska and the Panama Canal.”

Rare diseases, not so rare

There are more than 10,000 rare diseases, each affecting fewer than 200,000 people. Together, they impact more than 30 million Americans, according to the National Organization for Rare Disorders. More than 95 percent of rare diseases have no FDA-approved treatment options.

Many people with rare diseases due to genetic conditions are diagnosed in infancy or childhood but some disorders stay hidden until symptoms emerge later in adulthood. Getting an accurate diagnosis for rare diseases can be an incredibly long and complex journey, says social worker Stacey Krueger, a clinical program manager at WashU Medicine in St. Louis.

Mary Ann Eastman was 58 when her fingers began turning ghostly white.

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“Many patients live with symptoms for years before finally being diagnosed, not because they’re ignoring them but because providers are unfamiliar with the disorder.”

Finding the right doctor who understands symptom control and treatment options can be just as hard as the diagnosis. Delays in care not only affect physical health but also take a toll on relationships, mental well-being and financial stability.

“The moment you’re diagnosed with a rare disease, you often feel like the only person on the planet,” says Michael Pearlmutter, CEO of EveryLife Foundation for Rare Diseases, a national group that shapes policy and improves access to diagnosis, treatment and cures for the rare-disease community. “Finding others on a similar journey, sharing stories and advocating for change, that’s where the hope comes from. It’s about realizing you are part of something bigger, and that collective voice can truly impact policies and access to life-changing treatments.”

Reclaiming life with a rare disease

A rare-disease diagnosis upended Joanna Maxwell’s family and career in midlife. A licensed marriage and family therapist in El Dorado Hills, California, Joanna began experiencing health issues in her late 40s after surgery for hyperparathyroidism in 2017.

Complications from the procedure left her without functioning parathyroid glands, leading to a rare condition called hypoparathyroidism, a parathyroid hormone deficiency disorder in which the body makes too little of a hormone called PTH. This causes severely low calcium levels and elevated phosphate levels, leading to debilitating symptoms including muscle spasms (tetany), vomiting and brain fog, as well as frequent ER visits and near-death experiences.

Throughout this ordeal, Joanna’s husband, Stephen Maxwell, M.D., a thoracic surgeon, became her advocate and caregiver. Despite his medical expertise, he was shocked by the severity and unpredictability of her condition, and he often had to step in during emergencies, sometimes even educating ER staff unfamiliar with the disease. The couple’s daily life, marriage and family routines were disrupted for more than a year.

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Now stabilized with a daily injectable therapy called Yorvipath, Joanna, 56, has regained her energy. “She is a fully engaged mom and therapist, and has resumed her active lifestyle — all of which we thought we nearly lost,” says Stephen.

Heather Kagel also found the silver lining despite a diagnosis in midlife. In 2013, at age 45, Kagel was diagnosed with idiopathic pulmonary fibrosis (IPF), the same disease that took her father and grandfather. After a lingering cough, she pushed for a chest X-ray that led to a CT scan and a confirmed diagnosis. Though overwhelmed at first, Kagel, now 57 and living in Sackets Harbor, New York, found strength through her family and support from the Pulmonary Fibrosis Foundation, a national group that supports the broader pulmonary fibrosis community. A lung transplant in 2019 has given her more time with family and friends that she never thought she would have.

Her husband, Rick Tidwell, who married her after the diagnosis, has been by her side without fail. “I told her I wasn’t going anywhere. I knew it would be hard, but we were in this together. The more I learned about the IPF, the more I realized how much she needed someone by her side, not just at doctor visits but every step of the way.”

What caregivers need to know

When a loved one is diagnosed with a rare disease, caregivers can feel overwhelmed, isolated and unsure where to turn. But there are meaningful ways to seek help, provide support and stay involved.

Get educated

Learn everything you can about the diagnosis from trusted sources like the National Organization for Rare Disorders, Global Genes, EveryLife Foundation and disease-specific foundations. Don’t hesitate to talk to doctors and specialists, and remember, there are no stupid questions. “Understanding the condition helps you advocate more effectively and anticipate physical and emotional challenges,” says Pearlmutter.

Find a rare-disease community

Connect with disease-specific organizations that offer support groups, webinars and caregiver resources. Join online forums and Facebook groups to hear from other caregivers going through similar experiences. Attend in-person or virtual conferences about the condition. “Attending one of the scleroderma conferences was truly eye-opening,” recalls Jon Eastman. “You walk in and see others dealing with this disease, and you realize there’s a community, there are expert doctors, there’s research being done to find a cure. There’s hope. It absolutely changes your perspective for the better.”

Connect with rare-disease specialists

Within five years of Mary Ann’s diagnosis, the Eastmans decided it was time to leave the dream log-cabin home that they built in Utah for Delaware to be closer to Johns Hopkins University, a top medical center for scleroderma care. Most doctors who specialize in rare diseases are based in urban medical centers, rather than in suburban or rural areas.

Within five years of Mary Ann’s diagnosis, the Eastmans decided it was time to leave the dream log-cabin home that they built in Utah.

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“Families have the difficult choice of either working with local doctors, who may not have specific expertise in their rare disease, or pick up their lives and be closer to specialists,” says Krueger. “Many families also travel long distances to see their doctors and special care teams — which is another option.”

Advocate for your loved one

Learning about a rare disease means becoming your loved one’s best advocate. Go to medical appointments, help keep a record of symptoms and ask about the latest research and investigational treatments. You will also need to navigate complex systems like health insurance benefits and patient assistance programs, and may help them get involved in patient registries and patient advisory boards. In cases where treatment options are limited, exploring and helping them navigate clinical trial research options can offer a path to new possibilities.

“Some people stay silent because it feels too personal, or they fear being judged. But what I’ve found — and what so many advocates discover — is that sharing your story can be incredibly empowering,” says Pearlmutter.

Provide support

Depending on the rare disease, your loved one may need little to no assistance or require routine care throughout the day. This may include everything from managing medications and medical tasks to assisting with activities of daily living, transportation and taking over household chores like food shopping and cooking or outside work around the house. Stephen Maxwell recalls being in a constant state of readiness. “Due to the unpredictable nature of hypoparathyroidism, there was no warning when things might happen, so I felt like I was in a state of emergency.”

Cope with the emotional toll

Caregivers of those with rare diseases experience high levels of emotional stress, anxiety, isolation and burnout. They may struggle with feelings of guilt, anger and grief over the life they envisioned. It’s crucial for caregivers to prioritize their own mental and physical well-being. “Connecting early with social workers and support groups can ease the emotional and logistical weight of caregiving,” says Krueger. “These professionals and groups can help cut through the confusion of the health care system and guide caregivers toward the support they need.”

Proactive planning

Stephen stresses that the nature of rare diseases can be unpredictable, making it crucial to be prepared for sudden emergencies. That includes taking an active role in managing the condition but also getting affairs in order, like wills and a medical power of attorney. “It’s also important to talk openly about the situation with your family,” says Stephen. “Our boys ranged from elementary school to college at that time, and they were used to mom being energetic and involved in their lives, so we had to explain to them that things were going to change while she underwent treatment.”

Apply for disability

If continuing to work full- or part-time is not possible, applying for disability and collecting Social Security early can be a lifeline. Applying for disability insurance can be a complex and often frustrating process for families, especially when dealing with a rare-disease diagnosis. It’s essential to understand that Social Security Disability requires a medical diagnosis (symptoms alone are not enough) and medical evidence from your doctor to support your claim.

Many initial applications are denied — about 67 percent — often because individuals don’t realize they can and should get help with the extensive paperwork.

“It would have been easy to despair, but for us, it ignited a desire to live fully and embrace every moment,” says Jon Eastman.

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After their first application was denied, the Eastmans hired a lawyer to help them with a follow-up application. Social Security granted Mary Ann full benefits even though she was 62 at the time. When a disability claim is approved, payments are calculated as if you have reached full retirement age, the age at which you can receive 100 percent of the benefit you are entitled to based on your earnings history.

“While doctors’ offices may not always be equipped to help with the application itself, it’s crucial to inform your physician of your intent to apply so they can update their medical notes and provide detailed letters outlining your limitations,” says attorney Allison Bartlett, senior manager of disability programs at the Huntington’s Disease Society of America in New York. “If denied, it’s strongly recommended that you pursue an appeal, often with the assistance of an attorney specializing in Social Security disability, since they typically work on a contingency basis, meaning they only get paid if your case wins.”

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Paul Wynn, a veteran health care writer, has spent over a decade immersed in the caregiving community, both as a family caregiver and as a journalist covering caregiving issues for national publications.