How Did We Know Rylie Had NF......

Some people have asked how we knew Rylie was sick… the short answer… to be honest we didn’t know she was sick. Rylie has always acted like a happy, healthy little girl. The only problems we have ever really had with her were chronic ear infections and her weight. She was always just a little bit too small (also a sign of NF). We never really worried too much because our nieces and nephews were always on the smaller side as well. Honestly we just fell into this diagnosis by asking questions. To be honest we owe Rylie’s early diagnosis to a few people the most important being her daddy! Brett is an amazing dad and he spends a great deal of time with Rylie. I was still in my last semester of college when Rylie was born so Brett spent 3 nights a week at home alone with her. Honestly, it was probably a great bonding experience for the two of them. From day one he has always been super involved and even when I was on maternity leave he helped me out a lot!

Throughout her first few weeks of her life Brett noticed she had what appeared to be a lot of “birth marks” covering her torso area. At first we brushed them off as “birth marks” but as Rylie continued to grow so did the number of birthmarks. Her 2-month well baby check-up was coming up so we decided to ask the pediatrician about it then. By July Rylie had went from 1 “birth mark” at birth to a total of 11. And they seemed to be coming out of nowhere. What we know now is these “birthmarks” turned out to be Café-au-lait spots, the most common sign of NF. Café-au-lait spots are the flat, pigmented spots on the skin, which are called by the French term for coffee (café) with milk (lait) because of their light tan color. People with NF almost always have six or more café-au-lait spots. (Fewer café-au-lait spots may occur in people who do not have NF; in fact, about 10% of the general population has one or two café-au-lait spots). In general, with few exceptions, tumors are not more likely to appear where there are spots. Café-au-lait spots are usually present at birth in children who have NF or, generally, appear by two years of age. The number of spots may increase in childhood and occasionally later in life. The spots may be very light in color in infants and usually darken, as the child gets older. Smaller pigmented spots, which may be difficult to distinguish from ordinary freckles, may also be present in people with NF. In those who do not have NF, freckling usually occurs in areas of skin exposed to sun. With NF, café-au-lait spots and freckling are present in other areas as well, including the armpit (axilla), where small spots are called axillary freckling, and the groin. Axillary freckling is not seen in every person with NF, but when present it is considered strong evidence of NF. After being checked out by her pediatrician he confirmed he too felt like these we not birthmarks but instead Café-au-lait spots. He suggested we meet with a geneticist at Primary Children’s Hospital and have Rylie examined by them. We were terrified. We were first time parents, scared out of our minds. A few months later we met with the NF team at Primary Children’s Hospital and got an official diagnosis of NF1. The geneticist was so surprise we found it this early. He told us most children are diagnosed with NF between the ages of 3-5. 

We got at least a 2-year jump on this disorder because of Brett. Because of him we found this tumor 2 years earlier than we may have if we waited for a problem to appear…because of him our little girl is able to get treatment early! No parent ever wants their child to be sick but I tell you what, out baby is healthier because even in the midst of complete sleep deprivation Brett refused to settle and demanded answers to his questions. Because of him our daughter is getting the helps she needs. Because of him our little girl will be okay! If their giving out an award for the Best Daddy Ever he deserves it!