A Child's Life with a Genetic Disorder
A mom gives insight into her child's diagnosis of neurofibromatosis type 1 (NF1),
“Grace, this is Alecia from Dr. Gamble’s office, do you have a minute to talk?”
The phone from Clinical Genetics came at 5:12 p.m. on April 10, 2018. Grace Wilson-Rabel remembers the exact time and date because it’s the moment that changed her life.
Wilson was a secretary for Cook Children’s NICU and she motioned for her charge nurse to say she needed to take the call.
“OK, we received Austyn’s test results back. Her test is positive.”
Austyn had been diagnosed with neurofibromatosis type 1 (NF1), a genetic disorder that affects 1 in 3,000 people throughout the world. NF1 impacts children in many different ways, including light brown skin spots, neurofibromas (small benign growths) on or under the skin and/or freckling in the armpits or groin.
About 50 percent of people with the condition have learning challenges. Health concerns also include the softening and curving of bones, and curvature of the spine (scoliosis), and occasionally tumors may develop in the brain, on cranial nerves or the spinal cord.
While these tumors are usually not cancerous, they can cause health problems by pressing on nearby body tissues.
Following the diagnoses, Grace immediately felt cold fear run through her entire body and she broke down in tears.
After all, everything had changed.
Austyn was born Jan. 23, 2017.
Grace’s pregnancy was normal until her thirty-fifth week when she began to experience high blood pressure. Because it continued to be elevated, she was induced at 37 weeks. Austyn was born weighing 6 pounds, 12 ounces.
“There were absolutely no signs that she had a genetic condition hiding inside of her,” Grace said. “At 2 days old, we had her newborn check-up and discovered that her bilirubin was high.”
At 2 weeks old, Grace noticed her daughter was working hard to breathe and made a “horrendous noise” every time she inhaled, so back to the pediatrician’s office she went with her daughter.
Following three more visits to the Emergency Department at Cook Children’s, Grace made an appointment with Pulmonology where Austyn was diagnosed with laryngomalacia, a congenital softening of the tissues of the voice box, or larynx, above the vocal cords. This new diagnosis caused a whole other set of issues. Austyn’s suck/swallow/breathe coordination was off, which caused failure to thrive and a hospitalization at 7 months.
Due to her low weight and delayed development, Austyn was tested for cystic fibrosis.
“Thankfully that test came back negative, but we were placed in physical therapy because despite working with her every day, she did not crawl until 11 months and did not walk until 19 months,” Grace said. “We would find out later, with her diagnosis, that this is all very common for kids with NF.”
At 3 months, Grace noticed Austyn had three brown spots on her abdomen.
“I didn’t really think too much of it other than I thought they were cute birth marks,” Grace said.
At her 4-month checkup, Grace pointed out the spots to her pediatrician, Joyce Rafati, M.D. Dr. Rafati looked at them and said she thought it could be neurofibromatosis, but it was too early to tell.
By the age of 10 months, Austyn had 13 spots. Dr. Rafati referred Austyn to be seen by Dr. Gamble in Genetics to test for NF.
“The earliest we could be seen by the geneticist was January 29, 2018 – which was four months out,” Grace said. “The hardest part of this whole journey is patience. The wait time to see a specialist always feels so far away and then after the specialist visit we are left in limbo because there are so many ‘wait and see’ moments with NF.”
Austyn received a simple blood draw to test for the genetic condition, but it would take six or more weeks for the results. The test is expensive and has to be approved through insurance, which took another four weeks.
Once she received the approval, she took Austyn to the lab at the Dodson and had Austyn’s blood drawn on March 1, 2018.
Six weeks after the test, Grace received the phone call with the results.
“Processing that was one of the hardest things I’ve ever had to do,” Grace said. “I’m still processing it to this day. You have to go through a grieving process that sometimes takes months to years. You may grieve it your whole life but you have to be strong and you have to push through. NF1 brings lifelong doctor appointments and ‘what if’ questions. And, every day that there isn’t something going on and you’re not in the doctor’s office is a win.”
Grace said what helped her get through the most difficult time of her life was her husband, George. “He’s been my rock through this,” Grace said.
“He was amazing, so gentle and thoughtful with Austyn and her condition,” Grace said. “And with talking to us. He answered all of our questions and gave us an idea of what the game plan would be.”
Austyn was supposed to have surgery to fix her airway a couple of weeks after her neurologist appointment so Dr. McGlothlin decided to piggy back on the surgery and do her first MRI to test for optic nerve gliomas the same day so she would only have to be sedated once. Gliomas are non-cancerous brain tumors that can affect a child’s vision.
“The day of the surgery came and we anxiously handed our sweet 18- month-old baby over to the arms of the doctors and nurses,” Grace said. “We knew she was in great hands but it didn’t take away that fear and sadness of what she is having to go through.”
About four hours later Austyn was out of surgery and recovering in the PICU at Cook Children’s. All went well. She had a great night and the next morning she was in good spirits and eating. The MRI was the last thing on Grace’s minds.
Around 10:30 in the morning, while still at Cook Children’s, Grace received a call from the neurologist’s office.
“I didn’t even think that they would be calling me to tell me bad news, I just thought they might be calling to tell me everything looked great. I was wrong,” Grace said. “The woman on the other end said, ‘Dr. McGlothin wanted me to let you know that there are two optic gliomas.’ I couldn’t even breathe. ‘What?’ I asked, choking back tears. She repeated the news and all I could say was, ‘This has been the worst year,’ and I sobbed and sobbed.”
Grace watched Austyn sleeping peacefully. She was so small and innocent and unaware that she had something so concerning inside her “precious little head.”
“Austyn has had a few more eye appointments and another MRI and I am happy to report that as of today her vision is unaffected and her tumors are stable,” Grace said. “We hope and pray that they stay this way. Her neuro-oncologist is pretty confident that she will never need treatment. Since these tumors are inoperable the only treatment option is chemotherapy.”
Grace said Austyn has been through more needle sticks, tests, hospitalizations, etc. in her short two years of life than most adults have. But throughout the process, Grace said she couldn’t be more grateful for Cook Children’s and the team that has taken care of her daughter since that day when her life changed: her pediatrician Dr. Joyce Rafati, gastroenterologist Danny Rafati, M.D., endocrinologist Teena Thomas, M.D., neurologist Dr. McGlothin, neuro-oncologist Jeffrey Murray, M.D., her ENT Michelle Marcincuk, M.D., and pulmonologist Nancy Dambro, M.D.
“Austyn has rocked everything like a champ,” Grace said. “She knows when they want to listen to her lungs, heart and belly, where the stethoscope goes. She knows where the blood pressure cuff goes and holds her arm or leg out for it. She never complains. And all of her doctors and nurses are her friends.”
Cook Children's Neurofibromatosis Clinic
Neurofibromatosis (NF) is a neurocutaneous syndrome that can affect many parts of the body, including the brain, spinal cord, nerves, skin, and other body systems. Neurofibromatosis can cause growth of non-cancerous tumors on nerve tissue, producing skin and bone abnormalities. If your child has been diagnosed, you probably have lots of questions. We can help. If you would like to schedule an appointment, refer a patient or speak to our staff, please call our offices at 682-885-2500.
Effects of neurofibromatosis vary widely – some children live almost unaffected by it; rarely, others can be severely disabled.
There's no specific cure for neurofibromatosis, but tumors usually can be removed and complications treated. Because learning disabilities occur in about half the children with neurofibromatosis, some might need extra help in the classroom.
Our neurofibromatosis clinic is open to any child 0-18 years of age with previously diagnosed neurofibromatosis.