State your name and any affiliations with genetic communities or patient advocacy groups.

I’m Trish Flanagan and I’ve been given the great honor to help build the only HNRNPH2 Patient Advocacy Group, the Yellow Brick Road Project, otherwise known as YBRP. I am the president and board director.

What inspired you to take a leadership role with Yellow Brick Road?

My daughter was the seventh known case of H2. A meeting with Wendy Chung, M.D., and Jennifer M. Bain, M.D., at Columbia Presbyterian Hospital in New York in 2017 inspired me to join forces with several other parents to launch the YBRP.

Can you share a memorable moment or achievement from your time with the Yellow Brick Road that you’re particularly proud of, and why it’s significant to you?

Awarding our first research grant in 2020. It meant so much because we had worked tirelessly since 2018 to raise funds to begin the work we had originally set out to do – fuel research into HNRNPH2-related disorder. Our more lofty goal of playing an active role in driving the research forward has been realized at last!

In your experience, how has being part of a patient advocacy community like Yellow Brick Road positively impacted your family’s journey with your child’s rare condition?

Being involved in building this community has been one of the most rewarding experiences of my and my family’s life. Because of it, we are empowered. We are hope-filled. We know treatments are on the horizon. The more we grow as a community, the more people we have to fight alongside for a shared greater good. 

Truthfully, it’s quite a dichotomy because while my daughter Morgan’s rare genetic condition has been a very devastating, emotionally painful, life-altering event for our entire family, it has allowed us to rise up and out of the adversity and to become a key family in a movement for change through the YBRP, which has had and will continue to have a lasting positive impact on the world long after we are gone. That’s powerful. That’s something we feel grateful for.

When organizing patient advocacy and research conferences, what have you learned through this process?

I have to borrow a line from The Mandalorian – “This is the Way” – to express the profound meaning that Family Meetings have in growing a community and inspiring the critical connections with clinicians and researchers in the space of your rare genetic condition. These conferences deepen relations between families touched by the same disorder and give science minded people the chance to teach the community and learn from and about the patients and the burden of the disease. These human connections are lasting and become the backbone of successful patient advocacy groups.

Could you provide some insights into the challenges you’ve encountered while advocating for your child and the rare disease community? How have you overcome them, and what lessons have you learned along the way?

My daughter was the seventh known case with the HNRNPH2 condition. Over time, and through research, we learned about even

more comorbidities that we had never heard of or expected when we originally received the diagnosis. In our case, cortical visual impairment, now found to be a common feature of HNRNPH2, led to Morgan’s educational setting being completely revamped. With this, the YBRP needed to teach the community about the condition and update materials to reflect this so that parents could support their children best.

In addition, ensuring that all resources are verified as accurate with a clinician-researcher is paramount. A bitter lesson the YBRP learned is that sometimes others raising awareness for the very same condition do NOT hold accuracy in as high regard as we do. Instead, fear is used to heighten the sense of urgency for donors to give. This is tricky to navigate and can interfere with collaboration between groups that should otherwise be working together.

What resources or support networks have you found most helpful in your role as both a parent of a child with a rare genetic disorder and a member of a patient advocacy community? Are there any specific tools or strategies that you’d recommend to others in a similar situation (e.g., creating a podcast to share their story)?

From the parent perspective, Facebook groups specific to rare genetic conditions, such as the HNRNPH2 Parents Unite, a parents/caregivers-only group, are invaluable. These groups help community members to navigate and to understand what to expect and look out for in the face of a rare diagnosis for which little is known or documented in medical publications.

A social media presence is very important in order to raise awareness. Podcasting is something we’d love to embark on when our bandwidth increases. We tell our stories through videos we produce and share on social media and other outlets, such as our website or rare disease film festivals.

How have collaborations with scientists and research programs complemented Yellow Brick Road’s community-building and family support efforts?

Since first putting us on the map, Wendy Chung and Jennifer M. Bain have been abundantly generous with their attention and responsiveness to the YBRP and the HNRNPH2 community. We are profoundly grateful for these relationships and many others we have established with caring scientists who want to help our community arrive at treatments.

Simons Searchlight has been there from the onset to help us begin gathering data and storing it safely and securely, and to support our annual Family Meetings. National Organization for Rare Disorders (NORD), Global Genes, and Genetic Alliance UK are organizations that have been very supportive as we’ve grown. Last, but certainly not least, becoming founding members of COMBINEDBrain has absolutely catapulted us forward and given us opportunities, direction, and connections to people that have accelerated our growth.

Is there anything else you would like to share with our community?

YBRP firmly believes that treatments for HNRNPH2 will have implications for many other rare conditions – our work will help “all boats rise.”