I am the parent of a four-year-old girl named Nola. She was diagnosed with distal 18q deletion at the age of 18 months. Caring for a child with a rare disease affects every aspect of daily life. I find myself having to be more attentive and always “on” when I am with Nola. My career had to be adjusted to allow me to give her the time and attention she needs to thrive.
Rare Disease Day is so important because it helps to bring much-needed attention to rare diseases and a platform to advocate for funding for our children. It also helps to remove the stigma of a child with a rare disease by showing their talents and abilities.
Of the many challenges patients and caregivers face, I want the public to know that we realize some things take us longer and some things are harder for us to do. Please, just be patient. Not only with our children, but with us as parents. But with that being said, never treat us or our children as any different. We are rare, but we are strong.
This year I will be participating in the New York City Police Department’s Rare Disease Day event. We use our platform and our resources to spread the word on rare diseases. Last year’s event was a great success, and Nola had a great time.
