The Power of Patient and Family Voices
In the complex world of rare and undiagnosed diseases, few voices carry the weight of experience that Stephanie Tomlinson's does. For 25 years, she has navigated the healthcare system as the mother and advocate of a son with a rare metabolic disorder—a condition that remained undiagnosed until just two years ago.
When asked why it's important to center the voices of patients and families affected by rare diseases in events like conference, Stephanie points to the profound impact these perspectives can have on the healthcare professionals who provide medical care.
"It's important so that people who are treating and learning about rare disease patients and undiagnosed disease have an understanding of the impact that they're making by dedicating their education to something like this or their life's work," Stephanie explains. "It's hard to really understand the impact of something that you're doing when you don't have the opportunity to see your efforts move forward."
Caregivers as Equal Partners
After 25 years in what she calls "the rare disease space," Stephanie has a clear message for the healthcare system: recognize caregivers as equal partners in care.
"I think it's really important for the healthcare system to acknowledge that the caregivers are an equal partner in this person's care," she emphasizes. "We might not have MD or PhD behind our names, but we really are that person's expert, and we work with them day in and day out. We know what works, what doesn't work, and the levels of effort that we've tried to make their quality of life better."
This expertise becomes apparent in critical moments. Stephanie describes situations where her son's unique metabolic condition causes him to process medications differently than most patients. In one instance, she narrates, "When I say to them, 'Oh, you need to give them D10 [10% Dextrose Solution] right away and flush that out,' and they wait... and then he looks like he's having a stroke, and then they go, 'Oh, gosh! We should have done that!'"
Such moments underscore her core message: "It's really important that they really do look at the parents as part of the team, and not just an extension of the patient."
Words Matter: The Language of Care
One of Stephanie's profound insights is with respect to communication between healthcare providers and families. "Words matter," she emphasizes.
She challenges the negative framing that occurs when healthcare providers label patients or families as "non-compliant." "When people say to a family, 'Well, you're not being compliant,' that's really negative. And usually, a patient or a family is saying that doesn't work for us."
Using her own experience as an example, Stephanie explains that when her son was prescribed medication that needed to be taken three times daily, she knew the mid-day dose would be missed at school where he couldn't advocate for himself. Rather than being "non-compliant," she was seeking a medication regimen that would work within their daily routines.
"So, I will push back and say, 'Can you find us a different medication that's twice a day?' And sometimes a provider will be like, you know, it's like more work for them, but in the long run, it's a better choice for the patient."
She also notes how dismissive language can affect families: "Telling families and patients that 'that's an unheard of circumstance' or 'I've never witnessed'... the incredibility that comes from [hearing] our stories is the negative impact."
An Untapped Resource for Medical Education
Stephanie Tomlinson notes that many medical schools don't even offer rare disease tracks for students, which she considers a huge missed opportunity, considering the advancements in healthcare and technology. "We have a lot of great minds out there, and a lot of phenomenal AI resources that the two together could really make some inroads on a lot of the things that are affecting so many of our families."
Looking to the future, Stephanie sees tremendous potential in bringing caregivers and patients into medical education settings. "How can parents of rare diseases petition a med school to have their disease part of a curriculum or studied?" she asks. "We are just a very untapped resource."
She advocates for opportunities to speak to medical students or practicing physicians in grand rounds, educating them about rare diseases and sharing the efforts families have made to improve quality of life for their loved ones.
"I would love to be a participant in that," she says. "The amount of information that we've learned along the way..." She firmly believes that the wealth of knowledge garnered over her 25 years as a caregiver is invaluable.
Stephanie envisions a more collaborative approach to care, where providers feel comfortable asking families questions like "Will this work?" or "Do you have a sense of...?" She emphasizes, "It's okay to ask us the questions just like it's okay for us to ask the questions."
As medical education continues to evolve, incorporating these lived experiences could transform how future healthcare providers approach rare and undiagnosed diseases. As Stephanie puts it: "We really are a source with a different perception on things that might trigger how somebody else learns or thinks about a process."
After 25 years of advocacy and a diagnosis that came only recently, Stephanie Tomilson’s message is clear: partnership, respect, and open communication can transform the healthcare experience of rare disease patients and their families. Her philosophy is that “It is through the patient’s stories and lived experiences that we will be able to unravel the mystery [of rare diseases]”.