Making Neurofibromatosis Visible: Spotlight on Austyn Rabel

Five-year-old Austyn Rabel is one of more than 2.5 million people in the world with Neurofibromatosis (NF). When she was just 10 months old, Austyn had developed 13 café au lait (light brown) spots on her body. She came to Cook Children’s Medical Center for blood testing, and six weeks later, the tests came back positive for NF.

According to the Children’s Tumor Foundation, NF occurs in 1 of every 3,000 individuals. So why don’t more people know about the genetic disorder that causes tumors to grow on nerves throughout the body? Because it often goes unrecognized.  

May is NF Awareness Month, a time designated to drive awareness, education and support for the NF community and research. It’s a month dedicated to making NF visible by helping those with NF tell their stories!

Meet Austyn
Austyn Rabel was diagnosed with NF1 in 2018.

NF1 is the most common of the three types of NF and is also one of the most common inherited neurological disorders. It is characterized by multiple café au lait skin spots and neurofibromas (small benign growths) on or under the skin, and/or freckling in the armpits or groin. NF1 can manifest very differently from patient to patient, and no one person will have all the possible symptoms of NF1.

“Getting an NF diagnosis is very scary and life-changing,” said Grace Rabel, Austyn’s mom. “But there is a huge support system out there for families on that journey. Cook Children's has provided a place for us to find comfort and reassurance when we don't know what to do next.”

When Austyn was 18 months old, a baseline MRI displayed two optic nerve gliomas, which are inoperable tumors that can threaten vision and must be monitored closely. Since then, she has seen a variety of different specialists - ophthalmologists, neurologists, neuro-oncologists, endocrinologists and more - to monitor her case of NF.

“I don’t ever want to move or have to look for any other doctors because I don’t think we’d ever find as good of care as we’ve had at Cook Children’s,” said Grace. “I’ve felt that way since day one.”

NF1 can lead to blindness, deafness, bone abnormalities, disfigurement, learning disabilities, disabling pain and cancer. Unfortunately, there is currently no cure.

According to her mom, Austyn is a fighter - the only issue she faces is low muscle tone. To build extra endurance and strength, she goes to physical therapy every week and doesn’t let anything get in her way.

“While it's a difficult diagnosis, it's also an empowering one in that it teaches you that you are stronger than you realized,” said Grace Rabel. “Each child's journey is unique to them, but they are the most resilient kids I have ever met.”

To learn more about NF, click here.