By JoAnne Pastel

A year and half ago, we received the call from our daughter’s pediatrician telling us that a blood test confirmed her diagnosis for neurofibromatosis type 1, also known as NF1.  At the time Jacqueline was 4 months old. When she was first diagnosed, we were uncertain of her future and this genetic disorder.  No one in our family has it. We are thankful our pediatrician knew what NF1 was and the resources available because we had never heard of it. 

As Jacqueline approaches her 2nd birthday this month, 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 7 year old brother.  Currently, she has no learning disabilities and is doing well developmentally.  But, she does have multiple café-au-lait spots, a plexiform neurofibroma on the back of her head, neurofibroma on the tip of her tongue and a slight bowing of her left arm.  Thank goodness the pediatrician discovered it at such a young age.

We are currently working with the University of Minnesota Pediatric Neurocutaneous Syndromes Clinic Without Walls, Children’s Hospitals and Clinics of Minnesota, as well as Mayo Clinic Genetics and Pediatrics area. We also have begun a relationship with the Children’s Tumor Foundation, and believe we have the best of care for our daughter.

It has been quite a journey, but we have decided to take an approach of creating awareness and fundraising for neurofibromatosis in the hopes of educating others.  Jacqueline does not have to be defined by this disorder, and we hope that sharing our story and experience may help to pave the road towards a cure.

In 2005, Kakie Fitzsimmons and I created the Bur Bur and Friends brand for young children to promote self-esteem, sports and active play by using characters that reflect our diverse world as it is today.  We decided to include Jacqueline and her disorder through a new character in the series named “Nina”, who has NF1, and is based on Jacqueline herself.

Our goal in creating the Nina character is to help parents and children dealing with NF1 and other disorders to know they are not alone and to see themselves reflected in our stories.  We are in the planning stages of putting together a booklet to hand out to families when their child is first diagnosed with NF1 to help ease the anxiety when first told of the genetic disorder, and answer some questions.   We want to reach families, and let them know they are not alone.   Every person is affected differently by NF, but with the support of our NF community we all can make a difference to create awareness, and one day to help find a cure. 

We would like to hear from other families with neurofibromatosis. Please tell us your story.  By sharing we learn from one another and know we are not alone on this path.  Visit our Bur Bur and Friends  website and fan club on Facebook.

- Joanne

This entry was posted on Thursday, June 3rd, 2010 at 8:19 pm and is filed under Community Board. You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response, or trackback from your own site.