Leading the Way: An Interview with Carole Bakhos

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

Carole Bakhos, Executive Director at Jordan’s Guardian Angels

Could you please share your experience with your child’s rare disease diagnosis and how you navigated through it?

When my daughter Yara was diagnosed with Jordan’s syndrome at the age of 2, it was overwhelming and terrifying. We were one of the first families in the community, and at that time, very little was known about the condition. We felt isolated at first, but becoming part of this community provided us with crucial support. We’ve always met her where she is and done our best to provide her with the support she needs. It’s been a journey of learning, adapting, and advocating, but knowing that we’re not alone has made all the difference.

What inspired you to take a leadership role with Jordan’s Guardian Angels?

The initial inspiration for taking a leadership role was my daughter, Yara. I felt a deep need to contribute to finding a treatment and a cure for her and others affected by this rare disease. My previous skills and experiences had prepared me for this role, and I believed that having parents lead the efforts was essential for driving meaningful progress. The passion and determination to support other families, especially those newly diagnosed, fueled my commitment. I wanted to ensure that no one else had to feel the same fear and loneliness we initially experienced. It quickly stopped being just about Yara but about all our families impacted by the syndrome today and for generations to come.

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

One of the most memorable and significant achievements during my time with Jordan’s Guardian Angels is reaching the point where we are preparing for our first clinical trials. For years, finding a treatment or a cure felt like a distant dream, something we were striving for but seemed so far away. Today, that dream is becoming a reality. The excitement within our community is palpable, and the hard work and dedication of everyone involved are about to pay off. This milestone is a testament to the collective efforts, persistence, and hope of our entire community. It signifies a major step forward in our mission and brings us closer to making a real, tangible difference in the lives of those affected by Jordan’s syndrome.

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

Organizing these conferences has taught me the importance of collaboration and communication. Bringing together families and researchers not only allows for the exchange of information but also fosters a sense of personal connection. Researchers gain a deeper understanding of the impact of their work, making it more personal and urgent. Additionally, these events provide families with a platform to share their stories, learn about the latest research, and feel part of a larger, supportive community. It’s about creating a space where everyone feels heard and valued.

Could you provide some insights into the challenges you’ve encountered while advocating for individuals with a PPP2R5D-genetic variant? How have you overcome them, and what lessons have you learned along the way?

One of the main challenges is the rarity of the condition, which means limited awareness and resources. Advocacy can be difficult because so few people are impacted, and it’s easy for these diseases to be overlooked. We’ve overcome this by sharing our stories openly, being transparent about our struggles, and highlighting the collective impact of rare diseases. Building a strong, supportive community has been crucial. We’ve learned that persistence, education, and personal connection are key to overcoming advocacy challenges.

What resources or support networks have you found most helpful in your role as a member of a patient advocacy community and/or as a parent? 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)?

Support groups, both in-person and online, have been invaluable. They offer a sense of belonging and practical advice from others who understand the unique challenges we face. Creating resources tailored to our community’s needs, such as guides for interacting with doctors and schools, has also been helpful. One strategy I’d recommend is establishing an ambassador program to foster local connections. Seeing local communities connect, support each other, and find resources in their own languages has been incredibly rewarding. This program has empowered families to tackle the day-to-day challenges of living with a rare disease. It’s significant because it highlights the importance of community and shared experiences, and it shows that our efforts are making a real difference in people’s lives.

What is your own mantra or source of motivation to keep you going as a parent and patient advocacy leader?

My mantra is, “If I don’t do it, it’s not going to get done.” This drives me to take action and make a difference. Additionally, finding others for support and motivation when I’m tired helps keep me going. Knowing that our work is not just about my daughter but about the entire community and future generations keeps me committed and energized.

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

I’d like to emphasize the importance of empowerment and community. It’s vital for caregivers to feel that they can support their children if they have the right resources and support for themselves. Our journey is challenging, but together, we can create a better future for our children and generations to come. Don’t hesitate to reach out, share your story, and connect with others. We are stronger together.