May has been designated as National Neurofibromatosis (NF) Awareness Month and bringing awareness to this rare genetic disease is a personal mission for Goshen’s Mike and Nicole Sevison, whose 3½-year-old daughter, Skylar, has the disease.
According to the Children’s Tumor Foundation, neurofibromatosis affects one in every 3,000 people. It causes tumors to grow on nerves throughout the body and can lead to deafness, blindness, disfigurement, bone abnormalities, learning disabilities, disabling pain and cancer.
In Skylar’s case, she was first diagnosed with pseudorthrosis of the left leg after she had three fractures at the age of 5 months, just from being bounced on her parent’s knees. Children with pseudorthrosis don’t always have neurofibromatosis, but 55 percent of them do. In late fall of 2014, Skylar tested positive for NF.
Other than the butterfly-print brace on her leg that she picked out herself, Skylar is like any other 3½ year old, active and smart. She knows her colors and birthdays, is friendly and has a mind of her own. She doesn’t seem to let her physical condition slow her down. She has to wear the brace all the time except when sleeping or swimming.
Although NF is a genetic disorder, after two years of testing physician’s have determined that neither Mike nor Nicole carry the genes so Skylar has NF1 — a result of spontaneous mutation that occurs in about half of the cases, Nicole reported.
Skylar’s first surgery at 14 months wasn’t successful in healing the fractures. The rod inserted in her leg did help straighten it, but the fractures never healed. So in October 2016, her parents decided to try an “aggressive fix for her leg” — a two-part surgery along with medications they hadn’t considered before, according to Nicole.
The medications included IV infusions meant to help her body not attack its bones and something similar to a synthetic growth hormone. The first part of the surgery included an external fixator and eight pins in the bone to provide extra stabilization. She had to wear that for five months. Caring for the pins was painful and hard for Mike to do or watch. Nicole, who is a registered nurse, said she “had to just turn on my nurse switch because it had to be done.”
The second part of the surgery inserted a rod in her leg. The leg is now finally healing, showing a “very nice union in the bones.” Nicole said as Skylar grows she will need rod replacement and possibly a leg-lengthening surgery. “What we don’t want is any more surgery due to fractures.”
Skylar’s major issue has been pseudorthrosis, but in March they had a scare when an MRI scan showed an abnormality, a small cyst on a nerve.
Nicole said it’s not a tumor at this point, but will need to be monitored with annual MRIs.
Skylar had been receiving medical treatment at Shriner’s Hospital in Chicago but her doctor there will be transferring back to Riley Hospital for Children in Indianapolis, where there is an NF clinic with a whole group of physicians experienced in treating different aspects of NF. Nicole admits their focus hadn’t been on the NF but on her fractured leg. With the latest scare however, NF and all the possible ramifications is now on the couple’s mind.
Early on, Nicole reached out to other parents in online support groups but they also participated in research studies at the University of Notre Dame’s Boler-Parseghian Center for Rare and Neglected Diseases. Professor Kasturi Haldar received the 2017 Rodney F. Ganey Community Research Award for work she conducted with Skylar. Nicole spoke at their conference last year. She said Notre Dame has been very helpful and wants to provide local connections and support for families with children with rare diseases. She said the men’s hockey team had a rare-diseases night.
“When we were first diagnosed we didn’t know much about NF; the doctors didn’t know much. Luckily I have a medical background and knew how to research and I had a friend who connected me with Notre Dame,” she said.
The couple has also participated in the Chicagoland NF walk in the past and plan to again this fall. Those who would like to help with the walk may follow the Stand with Skylar Facebook page where information will be updated.
Nicole submitted a request to Mayor Jeremy Stutsman’s office for a proclamation declaring May National NF Awareness Month in Goshen but hasn’t heard back yet.
She said the reason why it’s important to get the word out is that it’s more common than other diseases but is less known. Also, because this is the home community where Skylar will grow up.
“We love this area. We want people to understand Skylar and embrace and support her. They say it takes a village to raise a child and we want that village to know and understand her. And not just NF, but all rare diseases.”
For more information, visit the Children’s Tumor Foundation at http://www.ctf.org.