Some people never meet their hero, but I gave birth to mine. My daughter, Angelina, was born with an incredibly rare disease called Neonatal Marfan Syndrome, which is a connective tissue disorder. There is no cure.
Angelina was born on February 5, 2008, and just 23 days later, the very first Rare Disease Day was held. I am truly amazed at how far society has come in raising awareness of rare diseases in the last ten years, and I remain hopeful for what the future may hold.
As someone who works in healthcare public relations, I am often part of the very team looking to tell stories like my own to help the 30 million Americans living with rare diseases. Every time I touch a rare disease account I feel uniquely positioned to provide insights only someone who has walked this path would know such as:
- Get the right diagnosis. Initially my daughter was diagnosed with Beal’s Syndrome. I didn’t learn she had Neonatal Marfan Syndrome until she was 10 months old.
- Find a support system. I was desperate to find other moms like myself and canvased every corner of the internet to find them. Discovering The Marfan Foundation was life-changing for me. I am still friends with a mom in Australia through an amazing platform they have called NMF Connect.
- Build an integrated medical team. I saw eight different specialists ranging from orthopedic surgeons to cardiologists. Making sure they all talked with one another and were aware of what everyone else was doing saved me a lot of time.
Perhaps, even more importantly I can relate with many mom warriors of rare disease children because:
- I have slept on a hospital couch for countless, consecutive nights
- I have cried in the shower alone because I didn’t want my family to know how upset I was when other kids and parents pointed and stared at my child
- I have become a ‘doctor without a diploma,’ knowledgeable about all things related to my daughter’s disease
- I have watched my child on life support and receiving bags and bags of donated blood (so please give blood if you can)
Angelina died in 2010, so being able to continue to work in the rare disease space helps me to feel like my daughter did not die in vain.
I am reminded each year on Rare Disease Day of all we have accomplished and everything we have left to overcome.
The kindest action a person can do is to encourage others despite their own pain.
We are all worth a cure. Never lose hope.