What does it mean to have a child with a RARE disease?

February 28th is Rare Disease Day. A day to raise awareness and advocate for the 30 million Americans who suffer with rare diseases and disorders. More than half of those 30 million Americans are CHILDREN!

ADNP Syndrome is an incurable rare neurodevelopmental genetic disorder that affects more than 150 children worldwide. (www.ADNPkids.com)

In honor of Rare Disease Day (February 28th) I am posting a "Guest Blog" about what it is like to have a child with a Rare Disease such as ADNP Syndrome.

Todays Guest Blog is written by Miranda C., mommy of #CourageousCarter!


Written by Miranda C.

What does it mean to have a child with a rare disease? What does it mean to have a child with a disease affecting only 150 individuals world wide?

It means that you, as a parent, will NOT know what the future holds. Parenting books go out the window because there is no guide for an unwritten syndrome. Because as other parents are chasing after their running child around their back yard, I am helping my child take his first steps WITH an assistive device. Being a parent to a child with a rare disease means a schedule full of appointments, procedures, therapies, and follow-ups. It's putting your child first and seeking any and EVERY intervention that MAY help your child speak another word, take another step, or meet another milestone. It's researching online for hours and reading endless blogs and comments on support groups because sometimes there's just NOT evidenced based research to guide a parent with a rare disease. Being a parent to a child with a rare disease is finding the strength and courage to learn every bit of information regarding your child's rare syndrome and teaching every physician, therapist, and teacher about what he / she can do to better help your child. You have to shout their worth every second of every day.

Having a child with a rare disease is knowing that life may be different than other families but different is not a bad thing. People have responded to learning of my son's diagnosis with "I'm sorry". Do NOT be sorry. Do not be sorry because I am thankful for this journey. My son's rare disease has helped me learn to appreciate every new sound he makes, every new movement he facilitates independently, every milestone he achieves, and most of all, every smile he shares. His diagnosis put my life in slow motion and allowed me to literally "stop and smell the roses". You cannot rush through life when your child has a rare disease. If you do, you're bound to miss every ounce of good that can come out of that child. You must find the patience and the time to sing the "Itsy Bitsy Spider" 100 times a day. You must save every bit of energy to cheer your child on as he explores the neighborhood playground for the first time or takes his first steps in his gait trainer. You cannot let a day pass where you have not found every opportunity to teach and stimulate your child to grow.

Having a rare disease does not mean my child is different, it means my son is unique. His uniqueness will allow him to pave the way for others less fortunate and will allow me to be an advocate for him and for children that need their voices to be heard just a little louder. Rare disease day may not have been a day I looked forward to two years ago but this year it's a day I know I can shout my son's worth and share his UNIQUE story that he continues to write everyday.

You can read more about Carter HERE!

For news and updates on research visit the ADNP Kids Research Foundation website.