From Heartbreak to Hope: Turning Our Rare Disease Journey Into a Mission

Our rare disease journey began with concerns that the pediatrician dismissed as normal quirks. My child was slow to reach milestones, but the doctor reassured us each time we asked.

But, as he grew older, it became clear something was wrong. He didn't learn to walk, talk, or perform basic activities like other children. Despite our repeated visits and requests for specialist referrals, we received no answers.

It took years to get a diagnosis

After numerous doctor visits, endless tests, and sleepless nights, I felt heartbroken and overwhelmed. Fortunately, with support from family and friends, I moved back to my home state, hoping for better care. This move proved transformative.

Between 2016 and 2020, we consulted many specialists and received several diagnoses, which brought us closer to a clearer understanding. Ultimately, on my son's fifth birthday, we received a definitive diagnosis.

The shock of a rare disease diagnosis

I never anticipated an ultra-rare disease diagnosis. When we finally received the news, it was both a relief and a shock. The condition was so rare that most doctors had not heard of it.

Consequently, I struggled to find information — medical journals had nothing, and online resources were largely useless. Fortunately, a team of specialists connected me to a Facebook group where I met other families with the same diagnosis. At that time, my son was one of only 12 known cases.

Searching for information and connection

I spent my nights searching for medical information, often finding little and making sense of the limited data available. Meanwhile, my days were filled with appointments, calls, and emails to specialists nationwide to ensure my son had the best chance.

I joined rare disease support groups, where I learned from families facing similar struggles. These groups offered practical advice, emotional support, and a sense of community. As a result, these connections became lifelines, helping me feel less isolated and more determined to advocate for my son and others like him.

Frustrated by lack of support all around me

Adjusting to life as an ultra-rare disease mom highlighted a severe shortage of resources. For instance, I had to prove to insurance companies that my son needed specific specialists, which meant mountains of paperwork.

Convincing the school system to provide necessary accommodations was another struggle, as I often encountered educators who lacked understanding and interest. They did the bare minimum the majority of the time.

The medical community's lack of awareness about ultra-rare diseases made it harder to find knowledgeable doctors. I often felt isolated and frustrated by the lack of support.

Turning my pain into purpose

This challenge, however, fueled my desire to fight for change. I became an advocate for my son and others, reaching out to professionals worldwide, participating in awareness campaigns and research projects, and collaborating with organizations. I learned that through community effort, change is indeed possible.

My son's rare disease diagnosis transformed my pain into a powerful drive for change. What initially began as heartache and frustration swiftly became a mission to make a positive impact. Confronting the challenges of an ultra-rare condition pushed me beyond my limits and sparked a fierce determination to advocate for those facing similar struggles.

I work tirelessly to raise awareness, support research, and build a community for other families. This transformation from hopelessness to purpose empowered me to turn our personal battle into a force for good, striving to ensure that no one else has to face such obstacles alone.