When Jane was about six months old we started noticing that, when she ate, she had some swelling and redness in her cheek. We brought it to our pediatrician’s attention, who had also noticed Jane had some cafe au lait spots. At that time, we had an idea that it might be NF. When she had her first MRI, we saw the extent of the tumor.
We’re in Connecticut so we went to see NF specialists in Boston. After about a year and a half they noticed her tumor was growing at an accelerated rate and that’s when they referred us down to the NIH (National Institutes of Health). It wasn’t until that time that I started to fully grasp the implications of what a life with NF meant. No treatments, no remission, no cure. Always waiting for the next complication to arise. It was overwhelming.
As Jane gets older, she gets up herself, she announces, “I’m taking my medicine!” and keeps the log herself. Since being referred to the NIH, Jane has been a participant in three different clinical trials. The first one was a shot every week, but it only slowed the tumor from growing for a little while. The second medicine did not help at all. But then she joined the selumetinib MEK inhibitor trial, and her tumor shrunk 33%!
After Jane was diagnosed, when I heard people say that they were hoping for, or working toward, a cure for NF, I was skeptical. As a physician, I knew how complex NF was… In my heart I hoped for effective treatments for NF, but didn’t believe that there would ever be a cure. The MEK trial has changed my outlook.
I am thankful for the Children’s Tumor Foundation’s enormous efforts to support the research that led to such a trial. Now that selumetinib has been approved as the first-ever FDA-approved treatment, I am thrilled, that now other people with plexiform neurofibromas will have access to and can benefit from selumetinib; proud that Jane was one of the first 24 children in the world to take selumetinib. She has seen it through from a Phase I trial to FDA approval, and her experiences, both good and bad, with the medication have helped guide researchers on how best to use it; and relieved that all of Jane’s hard work—all the trips to NIH, all the blood draws and MRIs and other tests, all the side effects and uncertainty—has paid off and will benefit others.
Jane is a budding geographer. Last year she represented her school at a local Geography Bee and came in fourth place even though she was one of the youngest participants! Whenever anyone in our family has a geography question, we ask Jane and she knows the answer.
Jane enjoys soccer, basketball, playing in her school band, being part of her community service club, and spending time with her family and many friends.
It’s remarkable to look at Jane now. She may have NF, but NF doesn’t have her.
-As told by Kristina Rath, Jane’s mom
Click here to read more about the Children’s Tumor Foundation announcement about the FDA’s appoval of the first-ever treatment for neurofibromatosis.
Click here to access the Children’s Tumor Foundation MEK Resource Center with more information on selumetinib, interviews with patients and researchers involved in this journey, as well as information for NF patients.
