On December 31st, 2001 I took a pregnancy test. When I looked at the test results and realized that they were positive, I couldn’t believe it. I had a feeling that I was pregnant but I had an even stronger feeling that something wasn’t right. The months went by and I was never able to shake the feeling that something was wrong.
Throughout my pregnancy AJ our first born said that he wanted to name the baby “Ladybug.” Not only did he say that he wanted to name her “Ladybug” but he was also dead set on that fact that the baby I was carrying was going to be a little girl. AJ was not far off in his predictions for many reasons.
When Julia was born we noticed she had a small brown café-au-lait on her left arm. A café-au-lait is a pigmented birthmark and as Julia grew, the number and the size of these café-au-laits increased. They became a freckling of spots, or “polka dots” as Julia calls them, which are all over her body, resembling the meaningful spots that characterize a beautiful ladybug. The random nickname that AJ had wanted to name his baby sister before she was born didn’t seem so random anymore. These café-au-laits are one of the characteristics of Neurofibromatosis.
A day after we brought Julia home from the hospital, I was exhausted. That night my husband and I put Julia down to sleep and I got into bed, with the hopes of dozing off immediately. As I was lying in bed, my husband went to the bathroom. He called me into the bathroom and when I got there I couldn’t believe what I was looking at, the window which was covered in ladybugs.
As time went by little things came up. Julia’s systems did not seem to function correctly. She suffered terrible constipation, stomach pain, had horrible gag reflexes, was always getting strange fevers and she was growing at a very slow pace. We kept bringing her to doctors but they kept telling us the same thing. Time after time we were told that she was fine and not to worry.
When Julia was four years old, she had another high fever. When the pediatrician checked her this time, he noticed the café-au-lait spots had multiplied and that she now she had freckling under her arm pits. He immediately referred us to a neurologist and told us he suspected an illness called Neurofibromatosis. He told me not to look it up before we knew if Julia really had it.
After endless doctor’s appointments, Julia was diagnosed with NF1; one of the types of Neurofibromatosis. I’ll never forget the first year after my daughter was diagnosed. I’d wake up every morning and the reality would hit me hard. It felt like a constant slap in the face. I’d remember as I woke up that this was the new reality we lived in. Our life became a new land of uncertainty. I felt as thought we wouldn’t be happy again. How would we laugh and enjoy ourselves? I though our lives would forever be veiled by this disorder.
And although our life is different, we’ve somehow adjusted to this new reality. It’s been eight years since Julia’s diagnosis. It’s been eight years of ups and downs, of sleepless nights, of non-stop worrying. It’s been eight years of pain that’s physical and cuts right through you so deeply because its your child your watching in pain. It’s your baby no matter how old she gets.
It has become our mission as a family to fundraise to find a cure to end NF. Since our efforts began, we’ve raised $400,000. We have been on the “Today Show” and have been invited to visit the Obama’s at the White House. The fundraising we’ve done has given us control over the out of control. We also know that when our children grow up we will be able to look them in the eyes and say we’ve done everything we can do, that there has been no stone we’ve left unturned and nothing we wouldn’t do to help their sister.
Written by: Laura Perfetti
Laura Perfetti is lucky enough to be married to Anthony for 17 years who helps pack lunches every morning for their 4 kids: AJ (15), Julia (12), Jacqueline (8) and Alex (6). She also teaches 4th grade, chairs a PRIDE committee in her school, but her biggest battle is to end Neurofibromatosis. Laura was elected to the Children’s Tumor Foundation Board of Directors in 2012 where she proudly chairs the Community Relations Committee. The Children’s Tumor Foundation is currently the leading organization researching neurofibromatosis. For more information visit www.ctf.org
