Shining a Light on Rare Diseases

As a young mom raising a child with a rare disease, I've learned that feeling pressure from uncertainty and heartache is normal. My son's diagnosis of an ultra-rare disease turned my world upside down.

For years, we searched for the correct diagnosis, hoping and praying it would turn out to be a nightmare. Unfortunately, it wasn't. Nevertheless, through the ups and downs, I discovered my purpose.

Facing fear and overlooked struggles

The words "rare disease" often invoke fear whether you are directly affected or not. The rare disease community is small, and our struggles frequently go unseen and unheard. Many of us have an "umbrella diagnosis," which causes our primary diagnosis, often the rare disease, to get overlooked.

Although supporting all children is crucial, the rare community lacks the necessary support because our diagnoses fall under multiple categories. Consequently, this realization drove me to fight, share our family's story, and advocate for change.

Our fight for recognition

You may have read about my family's struggle to have even the slightest concern recognized. This battle eventually led us to a team of specialists who guided us where we needed to be. Throughout this process, I discovered the strength and resilience within my family. These qualities, in turn, motivated me to strive for a positive impact. I want to help not only my family but also support many others in the community.

Therefore, this journey has never been solely about my family; it's about everyone else, too. By sharing personal stories, we can elevate the narratives of other rare disease families, which ultimately unites us all.

The power of awareness

Raising awareness, in my opinion, is one of the most crucial ways to make a difference. It's not just about research or fundraisers. Instead, it's about highlighting the everyday lives of those affected by rare diseases.

By sharing these experiences, we can educate and inform others of what we deal with daily—providing families with the hope they need to get through each day. Although it may seem simple, it is far from it.

Many families, for instance, struggle with even the simplest tasks. We can empower families to endure tough days and cling to hope through awareness. Thus, concealing our struggles benefits neither us nor the community.

Commitment to research and impact

I will always hold awareness of the daily lives of rare disease families close to my heart. Alongside raising awareness, I am deeply committed to supporting research efforts in any way I can. Even the smallest project can make a significant impact, and the community should recognize this.

It's not always about money or connections. Instead, it's about the drive behind it. Ultimately, increased awareness leads to more lives being changed, whether through cures or interventions that enhance the quality of life for those suffering and caring for someone with a rare disease.

Helping others

Our journey through the challenges of rare diseases has revealed the apparent strength and resilience within our family and the broader rare disease community. By sharing our experiences, I bring to light the overlooked struggles and foster a greater sense of unity and support.

Raising awareness and advocating for research are crucial steps toward improving lives and making a meaningful impact. Through collective efforts and commitment, we can drive positive change, bring hope to those who need it most, and ensure that no family faces this journey alone. It is together we can make a difference.