Leading the Way: An Interview with Caroline Cheung

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

My name is Caroline Cheung-Yiu. I am a Simons Searchlight Community Advisory Committee and an advocate for the IRF2BPL Disorder Community. My son was diagnosed in 2018 with the rare disease, IRF2BPL disorder, also known as NEDAMSS (Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures). During our 12-year search for his diagnosis, I started a support group called CURE (Complex Undiagnosed Rare and Extraordinary) to provide families of children with undiagnosed or rare disorders with resources, connections, and inspiration to keep moving forward in their journey.

What inspired your family to participate in the documentary film “Undiagnosed” and share your journey with a rare disease?

One night while scouring the internet for answers on our son’s chronic health issues, I came across the documentary website www.undiagnosedfilm.com seeking undiagnosed patients to share their stories. I thought that by sharing our story, we could connect with other families like us whom we could relate to, share the experience of navigating through the gamut of issues, and maybe connect with someone with the knowledge to diagnose our son. 

Can you tell us a little about your experience during the filming process? What were some of the highlights and challenges you encountered?

For nine years, the filmmakers came to San Diego several times to film our daily life. It was nerve racking and hard to be natural at first with a camera crew following us at home, school, doctor appointments, and life events. But, the filmmakers made us feel comfortable and became good friends.

They came to help when Alex was hospitalized after a chain of grand mal seizures and helped us with Alex’s welcome home party the day he was discharged. Alex was happy and surprised to be visited by two Power Rangers the filmmakers invited from Los Angeles.

Part of filming included interviews that conjured up feelings of heartbreak, helplessness, and frustration over the failure to find answers or treatment to ease our son’s pain. However, the experience was also thought provoking and showed us that there are people who care about making a difference for those struggling silently without a diagnosis.

How do you hope the documentary will create awareness and understanding about undiagnosed illnesses and rare diseases among viewers?

Most people assume when you are sick, you see a doctor and get a diagnosis and treatment. There is no awareness of the existence of undiagnosed and rare disorders nor an understanding that these families suffer physical, emotional, and financial hardship being perpetually immersed in unresolvable chronic health issues and constant medical crises.

I hope that the documentary will bring viewers to find empathy and action. To support and help shorten the diagnostic odyssey, bring those alone together, and catalyze collaborations to find solutions and treatments to help patients and their families live a better day, a better quality of life, and get closer to a cure.

In what ways did participating in the documentary offer support or connection to other families with rare diseases? Did you find a sense of community through this experience?

We connected with other families at the Undiagnosed Camp the filmmakers hosted at the National Ability Center in Utah. It was an incredible experience. We participated in activities we never thought possible given Alex’s disabilities and met other families like ours that were also desperately seeking answers.

I felt connected immediately with other parents, although our children’s symptoms and circumstances differed. We shared the same sorrow, loneliness, and frustration of caring for a medically complicated child with no prognosis. We were becoming a community that did not exist for those without a diagnosis. Together we found hope.

Has participating in the documentary influenced any decisions or actions related to your rare disease advocacy or treatment options?

I realized that connecting all undiagnosed or rare families is essential ─ even though the underlying illness is different, many symptoms and experiences are shared. We are all overwhelmed with advocating for special education, navigating the medical system and supply world, seeking alternative therapies, and caring for our well children. Our bravery and tireless love rebound off each other, encouraging each other not to give up and keep moving forward.

That inspired me to form a support group and share the many resources and connections that have helped me and my son. In 2014, I started the San Diego Undiagnosed Family Support Group, now known as CURE (Complex Undiagnosed Rare and Extraordinary).

How do you envision the documentary “Undiagnosed” contributing to research, medical advancements, or advocacy efforts for rare diseases in the future?

The film presents the struggles of the undiagnosed and what is lacking. It’s our outcry to professionals in the medical and research fields to realize the voids and that they can make a difference by reducing the time to diagnosis, discovering new rare diseases, and developing treatments.

I also hope that the documentary’s impact campaign ─ the goals of bringing together a network of individuals, industries, and communities to develop policies on genome sequencing and reanalysis, validation of undiagnosed, and specimen repository ─ will come to fruition.

What advice would you give to other families who are considering sharing their stories through a documentary or similar medium?

Sharing your story through film and media can be very powerful and reach a wide audience. Before you commit, make sure that your story and your advocacy goals align with the vision and purpose of the film or media. Be patient, it takes a few years to shoot and research a feature-length documentary, and then more for post-production work like editing and sound before it’s ready to be shown.

How can people watch “Undiagnosed”?

For now, the documentary can only be seen at film festivals. Check www.undiagnosedfilm.com often for updates and sign up to be on their email list to receive the latest updates, including when it will be available on major streaming platforms.

Anything else you would like to share with our community?

You are not alone. We are not a few. Be open to learning and be flexible to adapt and evolve. We can move further together as a community and attain a better quality of life for our family and loved ones with undiagnosed and rare diseases.