Rare Compassion in Action

By Lindsey Wahlstrom

I first met Julia Kooser when her email popped into my inbox on July 26, 2023. I am a rare mom and Julia was a second year medical student who was interested in learning more about rare diseases. We had been paired through the Global Genes Rare Compassion Program, which matches people living with or caring for a rare disease with medical students who are interested in learning from their experience. It was time to schedule our first call.

In late 2022, my until-then healthy five-year-old daughter, Rona, had a finger prick that would not stop bleeding at her annual check-up. That finger prick revealed her hemoglobin was borderline low for the second time in her short life. Her provider ordered lab work, including a CBC, to confirm she was a carrier for a genetic disorder that would explain her counts.

The results of the CBC revealed that all of Rona’s blood cell counts were at the bottom of the normal range. There was one exception: her platelets were dangerously low. Over the next few months, Rona underwent a series of tests that landed us a diagnosis in January of 2023. Rona had Acquired Aplastic Anemia.

At the time of Rona’s diagnosis, I had worked in patient engagement for medical research for more than a decade. I disclosed her condition to only a handful of industry friends. One was adamant I join the Rare Compassion Program. “You would have so much to share,” she urged.

The first student with whom I was paired experienced in real time what it meant to go through the rare diagnostic odyssey and to initiate treatment. I took our first two calls from the comfort of my couch with Rona bouncing around in the background. She joined in the discussions periodically so that he could ask her questions directly. Our final call was the week Rona engrafted from her first stem cell transplant. It hits me periodically that in this student’s narrative, Rona was cured and is living life as a normal seven-year-old right now.

Unfortunately, everything in Rona’s treatment went wrong the week after we wrapped up our discussions.

To be honest, my first reaction when I received the email about being paired with Julia was, “I don’t think I can do this.” Rona had developed several concurrent life threatening infections. I had not slept more than a couple of hours a day in fifteen minute increments for months. I barely had time to get a breath of fresh air or shower most days. I was not sure how I would fit in the calls.

But Julia proved to be a perfect match. She had worked as a nursing assistant in a pediatric hematology unit before. She was patient and understanding about the unpredictability of my schedule. We had one call in early August right after Rona’s second transplant when we still hoped things might turn around.

Our second call was in September, two weeks after Rona died. I was still very much in shock and suggested to Julia she might not get the learning experience she had come for as a result. Rather than turning away, she leaned into my loss and grief.

“I would like to stay in touch, if you are open to it. It’s helpful for me to understand how parents grieve,” she said.

So we did. We held our third call in October to wrap up the official series. And we have continued to connect quarterly for more than a year-and-a-half.

“In medical school, we learn about prolonging life at all costs. In my experience, it seems like oncologists exhaust all chemotherapy options so a patient can have a couple more months of living. It’s a tough balance to strike. There’s value in living longer, to go to a graduation, to make it to a wedding, to see the birth of a family member,” said Julie. “There’s also value in dying with dignity. Everyone deserves comfort and peace and a sense of support and love in their final moments and choosing to die with dignity takes remarkable strength and courage. These conversations taught me the value of palliative care and helping patients pave their own path in their personal journeys with rare disease”.

One of my greatest struggles in the hospital was managing my interactions with the medical students and residents who did not understand the limitations of their knowledge about Rona and her condition. At one point, I earned the nickname “The Momatologist” in recognition of my impromptu lectures during rounds and the care instructions I provided when the interns and residents visited with incomplete knowledge about the latest complication in the middle of the night.

Meeting with Julia helped me put that experience in perspective. She just wanted to learn and absorb what she could. She was curious. She was kind. She opened me up to the benefit of continuing to work with residents and medical students. Now I work closely with the hospital to share Rona’s story and what it taught me about what we can do better for kids and families navigating a diagnosis. Every time I speak, I get a thank you note with a message about what the students learned and what they will do differently as a result.

Thanks to Julia’s willingness to learn and the understanding it gave me, another 300 future providers have learned how to better care for their youngest patients.