Stephanie's Story

How has CMD had an impact on your life?

I was diagnosed late at age 13 after suddenly coming down with pneumonia which left me needing invasive ventilation. My brother was also diagnosed at age 7 after a simple surgery left him needing oxygen for weeks and a BiPAP machine. Our diseases have progressed differently. My brother's health is more stable than mine and I believe it's because medical intervention and diagnosis were earlier than mine. Being educated and advocating for ourselves has helped us the most. I enjoy activities such as dancing, drawing, reading, and walking. I hope to raise awareness in hopes of helping another family get through this, with earlier diagnosis and intervention, and less stigma in society.

What do you wish people knew about CMD?

This is a journey that is different for everyone, even if you share the same mutation. We can all experience different symptoms and stages of change. There is no one size fits all and that is why it's so important to keep learning, raising awareness, and advocating. We all deserve to be seen and heard.

What advice would you give to fellow CMD Community Members?

Staying connected to the CMD community will help you gain confidence not just health-wise but mentally as well. While CMD may present differently from person to person, there is a lot to learn from this community. It is a connection like no other.