If you were like me, you likely have never heard of Neurofibromatosis. And don't worry about pronouncing it, NF will do. NF is a genetic disorder that can cause the uncontrolled growth of tumors inside and outside of the body and is characterized by multiple café au lait (light brown) skin spots, also known as angel kisses in our home. It is also associated with learning disabilities, high blood pressure, and can affect the development of the brain, cardiovascular system, bones and skin. NF is more common than cystic fibrosis, muscular dystrophy and Huntington's disease combined. There is no way to predict the severity of the disorder throughout a person's lifetime and there is no cure. (ctf.org and texasnf.org)
Now imagine you were just diagnosed with it. Or your child. This is our story.
Our family fell head over heels in love with our fourth child when we saw her being advocated for on a website in need of a family. We weren't planning on adopting again, until that moment. We were out of state, in Baltimore, having surgeries for our youngest daughter who is missing her fibula. When we received more information on this precious 5 year old, we learned we needed a specialized orthopedic surgeon to look over her file. Boy, we were in luck, face-to-face with one of the country's best. We showed our surgeon x rays of a broken tibia and fibula and he immediately recognized it as Congenital Pseudoarthrosis of the Tibia (CPT). "We got this." Then he gave us a heads up that pseudoarthrosis can be associated with Neurofibromatosis. "What? Say that again. Spell it." After a quick google search, my heart sank. So against my natural tendencies, I stayed off google and went straight to our Neurofibromatosis Clinic in Dallas. Dr. Klesse is bragged about often and recognized all over the country. She was kind enough to talk to me personally and her conclusion was she was seeing enough evidence to prepare us for a Neurofibromatosis diagnosis. My heart sank again. Honestly, it still does.
Those who are familiar with Lottie knows she underwent an amputation 8 months after we met her and sports a purple prosthesis, but the part of the story I tend to leave out is her NF diagnosis. While it is scary, I follow Dr. Klesse's original advice two years ago, when we spoke before meeting Lottie, which was "The internet likes to sensationalize NF. Stay off Google." So I do stay off random internet searches and have stayed private about the diagnosis to keep other people from "googling" my daughter's disorder. For me, it's a strange and unwelcomed feeling knowing someone may be looking up my daughter's disorder and not being able to filter the sources. I never want NF to define her. I never want it to change the potential they see in her. I never want fear to rob the joy. But the reality is NF is unpredictable and as her mom, I worry.
I am breaking my silence because worrying isn't helpful, but awareness is. Research is. Support is. Lottie, along with thousands of others, stand a much better chance if we can discover more about NF, find better treatments and a CURE. It all starts with awareness. May is NF awareness month and it starts with me, now. I will not be silent.
The NF community has been a refreshing and enlightening source of encouragement and education. Dr. Klesse now oversees Lottie's care and we always look forward to our visits and her time. We also value Children's Tumor Foundation and Texas Neurofibromatosis Foundation for the commitment to NF.
This month, 20% of all MaeBeSew sales will be given directly to Neurofibromatosis research, unless designated to an adopting family: www.maebesew.com/shop
To give directly to Neurofibromatosis research, click here.
To support Lottie, spread awareness & support research, consider buying "I know a NF fighter" shirt here.
While this is a very small snapshot of our story and Lottie's diagnosis of NF Type 1, I hope it's valuable in opening the doors for more support in finding a cure and better treatment. Lottie doesn't let anything steal her joy and it's my hope that will never change. Keep shining on Lottie girl. Momma loves you.