Designing Trials for Families: A Rare Disease Caregiver and Researcher's Perspective

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For Rare Disease Month, we interviewed PicnicHealth’s Head of Patient Recruitment and Engagement, Lindsey Wahlstrom, to share her and her daughter Rona’s story as a rare disease patient.

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When her daughter Rona was diagnosed with aplastic anemia, a rare disease, at age five, Lindsey found herself in a world she knew professionally, but had never lived in. Having spent years working in rare disease research, she understood that the road ahead would be filled with unknowns, and still, nothing prepared her for it. Navigating weekly specialist appointments, unexpected hospital stays, and 3AM medication doses timed to the minute, she was, in every practical sense, a member of Rona's medical team — coordinating care, communicating with providers, and making decisions under enormous pressure.

This Rare Disease Month, we interviewed Lindsey to share what it takes to truly be a caregiver and participate in a clinical trial, why caregivers remain an afterthought in trial design, and what the industry owes to the families who show up — every hour of every day — to make research possible.

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Can you please tell us about your daughter, Rona, and her journey with her rare disease?

Rona was truly one-in-a-million. She loved school, ballet, tae-kwon-do, and soccer. She was an absolute joy: smart, witty, and so, so kind and loving. 

Shortly after her fifth birthday, Rona went in to see her pediatrician for her annual checkup. Everything was “perfect,” except her finger prick wouldn’t quit bleeding and her hemoglobin was borderline low. Her pediatrician ordered some labs to see what could be causing the low result, and our diagnostic odyssey began. 

After a series of blood tests over the course of a few months, a bone marrow biopsy showed Rona had aplastic anemia, a rare disease with no known genetic origin in which your immune system attacks your bone marrow.

It was a devastating diagnosis for her father and me, but as someone who worked in the rare disease research space, I’d known something was wrong, and we were grateful to have answers. Initially we were told it was moderate, but within two weeks, her case was reclassified as severe.

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She first tried immunosuppression treatments for a few months, but it wasn’t long before we realized a stem cell transplant was Rona's only option to restore her body's ability to produce blood cells. We soon realized our one-in-a-million kid was actually 1 in 25 million. There was no one registered on the international stem cell registry who was a good human leukocyte antigen (HLA) match, meaning there was no one who could safely provide the stem cells she needed.

Without this strong match, her best chance was me — a half-matched donor. We went through four clinical trials together that summer, each one using my cells in different cellular therapies, and all failing. While preparing to receive a transplant using her father’s cells, Rona passed away just two weeks after her sixth birthday in September 2023.  

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As a parent, what parts of her treatment were the hardest?

Managing care for a child with medical complexity is next level. Beyond the normal stresses of caring for a child and working full-time, we had to manage multiple doctors’ appointments each week and unexpected hospital stays every couple of weeks. It felt like we had to learn a new language virtually overnight to ensure we could communicate with her medical team effectively. 

While she was receiving an immunosuppressant, every night we mixed and dosed one of Rona’s meds at exactly 3AM. She had to receive another medication exactly every 12 hours, with little wiggle room on timing. Once we began the trials, we were in the hospital full-time, and the stress and difficulties only intensified. For three months straight, my Apple Watch said I stood for at least one minute, every hour of every day.

I came to realize that people underestimate the amount of caregiving parents do in a hospital setting. You truly are a member of your child’s medical team. At least in our case, the informed consent process didn’t make that clear. Sure, you read the paper and you sign the form, but it’s hard to know what that experience will be like. When you are in the thick of participating, it’s even harder to remember the nuances of the process. Consent is more than a regulatory form — it’s understanding what to expect and then continuously re-understanding it while you experience it. 

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In your work in clinical research and as a patient advocate, do you feel like clinical trials typically handle informed consent well?

As an industry, I think we've made progress on informed consent with things like the Common Rule and summary sheets, but there is room to improve.

The consent process should not end when the trial starts — it should continue until the trial ends. For Rona's trials, her packets were at least 35 pages long with supplemental handouts. Even though I read them multiple times before signing and I have a background in research, I was still blindsided when some complications arose that I didn't remember reading. In my work with my nonprofit, I hear that too often. Our industry is focused on making forms easier for patients to understand, but I think we've conflated brevity with clarity, and the latter matters more.

We have an obligation to make sure that people truly understand what they're consenting to before they sign. And sometimes that means forms need to be dozens of pages, because that's what it takes to cover the important points. Think about how fuzzy memory gets in periods of high stress, then multiply that by ten — that's where I was. It isn't reasonable to expect people to retain everything from a single sitting at the start of a trial. We need easy ways for people to revisit forms, access supporting materials, and reach providers who can answer questions throughout treatment. There is a role for technology innovation here in surfacing this information, but we also cannot forget that in our most human moments, we want a human on the other side of the table or the other end of the phone. The best solutions will balance both.

Responsible informed consent is about slowing down, answering questions, having a discussion, and checking for understanding throughout the process. Clarity trumps brevity every time.

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How has Rona and her story continued to shape your life and work?

Like I said, Rona was a joy bomb, and bringing kindness and looking for the joy and magic that life has to offer are central to how I operate everyday. That’s what led me to start Rona’s FUN LAB, which is a non-profit organization that works to better balance the magic of science and the magic of living for critically ill kids.

Rona’s case also directly changed how her medical team practices medicine in several ways, including new research questions they’re pursuing, new testing they’ve incorporated into care, and practical changes to how they support families navigating treatment and coverage.

To the surprise of many – including myself – I continued working in the medical research space after Rona died. I love research, and I think it is so critically important to ensure fewer stories end like Rona’s. And fewer parents stand in my shoes in the future.

At PicnicHealth, I work with our team to find ways to make non-interventional trials work better for patients and their caregivers. Our solutions focus on making participation easier, utilizing remote methods for data collection as much as possible and giving patients additional benefits for participating. When they’re enrolled in a study, we give access to their complete medical history through our patient app and their consent form, along with tools to help them understand it and search through them. Patients and caregivers can use the app to easily find things in their records, have more informed conversations with their research teams, and provide these teams with their full medical history. And at the end of a study, we share the study results with patients to show them the impact they’ve had.

From my experience with Rona, I am much more cognizant when I work on a study of the stakes of participating and the challenges that caregivers and patients face. Things like nice front desk attendants, access to child care, and good communication can make or break a trial. In my work with recruitment, I take time to really understand the patient journey before launching a program: What else might a potential participant be experiencing when they are presented with information about the study? How can we make things 10% easier and deliver real value for individuals who choose to enroll? It’s about finding ways to honor the patient and their experience.

In a recent study I’ve been working on at PicnicHealth, we partnered with the sponsor to make sure that every parent who donates their child’s medical records to the study after they pass away receives a certificate for the contribution their child is making to research. It doesn’t make their loss any easier, but seeing your child’s name after they are gone — in any way— and knowing their child left a mark on this world and is not forgotten is a gift, and one that I am honored to give to these parents who have been through so much.

None of these things are the legacy I wish Rona had been able to have, but she’s had a lasting impact on research and on me, and I work everyday to make life a little easier for other kids and their families.

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PicnicHealth runs non-interventional studies that keep patients and caregivers at the center. To learn more about how PicnicHealth can support your research, contact us.