RARE - Sarah Woods

From Patient to Advocate: Sarah Woods’ Journey and the Birth of the Serenely Guided Foundation for Rare Diseases.

In a special Spotlight episode of the RARE series, host Laura Hulley sat down with Sarah Woods, a rare patient and rare mother, to discuss her personal journey, her son’s diagnosis, and how these experiences led her to found the Serenely Guided Foundation for Rare Diseases, a non-profit organisation dedicated to supporting patients and families in the rare disease community.

 

 

A Dual Perspective: Patient and Mother

Sarah began by sharing her story. Diagnosed with Hereditary Hemorrhagic Telangiectasia (HHT), a rare genetic blood vessel disorder, her path to diagnosis was anything but straightforward.

“It took me almost four years to get diagnosed,” she explained, recalling the frustration and uncertainty of navigating medical systems without clear answers.

Just a year after her own clinical diagnosis in 2023, Sarah noticed her son, experiencing similar symptoms - nosebleeds, headaches, and stomach pains. Drawing from her own experience, she quickly sought testing for him. Thanks to genetic counseling and advanced testing through GeneDX, Sarah’s son had his diagnosis confirmed within 4–6 weeks - a striking contrast to the years Sarah spent searching for answers.

 

Founding the Serenely Guided Foundation for Rare Diseases

These experiences opened Sarah’s eyes to the broader challenges rare patients face - not only medical, but also practical.

“I was going to so many doctor’s appointments, working, and managing my son’s care that sometimes I thought, where’s the next healthy meal coming from?”

Motivated by these struggles, she launched the Serenely Guided Foundation for Rare Diseases to provide direct, practical support for families. The foundation’s programs include:

• Home-delivered meals through partnerships with providers, funded by donations.
• Custom care boxes for patients, tailored to needs and wishes, from clothes to gift cards.
• Support for pediatric cancer families, recognizing that all childhood cancers are classified as rare.

Her goal is simple but profound:

“We just want to make the patients’ and caregivers’ lives easier… so they know someone cares, and they can get that support almost instantaneously from us.”

 

Hopes for the Rare Disease Community

Looking beyond her foundation, Sarah shared her vision for systemic improvements in rare disease care:

1. Patient Navigators and Social Workers – Dedicated roles to guide patients and families through the complex rare disease journey.
2. Accessible Genetic Testing – Faster, more affordable testing to shorten the diagnostic odyssey. “It could just bring a lot of ease to patients’ minds if they had that access earlier on,” she emphasized.
3. Empowered Future Generations – Instilling advocacy skills in young patients. Sarah encourages her son to “be the CEO of your health journey,” reinforcing the importance of self-advocacy in achieving better outcomes.
4. Creation of Patient Leadership roles  within clinical settings, as well as areas of clinical trial design, and adding patient experience speakers to every panel at conferences while ensuring patients are compensated to alleviate their financial burden which would continue to build on the goal of better health outcomes for the rare disease community through multidisciplinary collaboration. 

 

A Message of Advocacy and Hope

Sarah’s story underscores both the challenges and opportunities within rare diseases. Her foundation represents a grassroots solution - meeting families where they are, in the midst of appointments, treatments, and everyday life.

As Laura noted during their conversation, early diagnosis is a recurring theme in rare disease discussions, and Sarah’s contrasting experiences with her own four-year journey and her son’s swift six-week confirmation highlight both the progress made and the work still ahead.

Sarah closed with gratitude and determination, thanking the podcast for the opportunity to share her story and amplify the mission of the Serenely Guided Foundation for Rare Diseases.

 

Thank you to Sarah for taking the time to share her insights.

More information on the Serenely Guided Foundation for Rare Diseases can be found here: https://www.serenelyguidedfoundation.org/