Give to the Max Day: Support Families affected by NF!

About 2 1/2 years ago, we received the call from our daughter's pediatrician telling us that a blood test resulted in being positive for Neurofibromatosis type 1, also known as NF1. At the time, Jacqueline was only 4 months old.

When she was first diagnosed, we didn’t know what to expect from this genetic disorder because we had never heard of it. No one in our family has it. We are grateful our pediatrician knew what NF was and knew about the resources available.

We learned that Neurofibromatosis is a genetic disorder. Approximately 100,000 people in the United States have NF1. It affects approximately one in every 3,000 babies. NF1 touches all races and both sexes equally. About half of the all people with NF1 have inherited the gene that causes it from parents, the other half because of a change to the gene.

NF1 can cause skin changes as well as tumors (which are typically not cancerous) along the nerves in the body. There are other problems that can occur with NF1 like learning disabilities, high blood pressure, headaches and more, which is why it needs to be closely monitered by routine check-ups with specialty doctors.

As Jacqueline celebrated her 3rd birthday this year, we look back at how much our lives have changed since the diagnosis.

Jacqueline is a typical toddler with lots of energy and charm who is always trying to keep up with her big brother. Currently, she has no learning disabilities and is doing well. But, she does have multiple café-au-lait spots, plexiform neurofibroma on the back of her head, neurofibroma on her tongue and a slight bowing of her left arm. Thank goodness the pediatrician discovered it at such a young age, and referred us to the necessary specialists.

It has been quite a journey, but I have decided to take an approach of creating awareness and fundraising for Neurofibromatosis in the hopes of educating others.

The cause is a mystery.

The cure is unknown.

My little girl’s future, like many others, is uncertain.

THAT is why I cannot sit back and wait for the unknown.

THAT is why I try to do all that I can.

THAT is why I now am a mother, an author, and an activist.

All that I need to do is look into those big brown eyes, and I realize what is important. I see her lively spirit and refreshing energy, and dream about the person she will become.

Children like Jacqueline do not have to be defined by this disorder, and I hope that sharing our story and experience may help to pave the road towards a cure.

From the bottom of my heart, thank you for taking the time to hear our story and consider supporting families like ours.