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.

Candace Gamble, M.D., is a clinical geneticist with Cook Children’s, and the call was to let Grace know her daughter’s diagnosis.

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.

A few months later, Grace and George took Austyn to meet her new neurologist, Jeff McGlothlin, M.D.

“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.”

Commonly recommended ways to prevent constipation are to drink water, exercise, and eat fruits, vegetables and fiber-rich foods. Yet even when we use these techniques, our children still sometimes get constipated. Whether its contributing to stomach ache, delayed toilet training, bedwetting, or missed school, constipation is no laughing matter.

“But my child poops every day! My child can’t be constipated!”

Even if your child stools every day, he or she may be constipated. Think about your office desk; you may clear papers off regularly, but if you are not clearing as many papers as are building up, you will soon have a messy desk. Children may poop every day and still not be fully emptying their intestines. When constipation develops, the extra stool causes the intestines to stretch. Once this happens, the intestines may not be able to move as well, which leads to more constipation, and it becomes a vicious cycle. In infants constipation can be particularly hard to recognize because in this age group it is can be normal to have less than one stool per day.  Parents should look for a change in the frequency of stools along with firm stools when considering constipation. 

“What now?”

The good news is that constipation can often be treated with dietary changes. The key to making the treatment stick is continuing it long enough. If you stop too soon, the intestines have not had time to heal, and the constipation returns. As a physician who often sees this condition, I recommend treating constipation for as long as it has been a problem. For example, if constipation has been an ongoing problem for one month, treatment typically lasts at least one month. Treatment also depends on your child’s age.

• For infants over the age of two months, ask your pediatrician about giving small amounts of prune juice or pear juice.
• For a toddler, in addition to pear, apple, or prune juice, consider adding high fiber foods such as pears, peaches, and whole-grain cereals to his or her diet.
• School age children or teenagers can learn about which foods will help improve their symptoms and can then get involved in choosing foods that are fiber-rich and appealing to them.
• In cases that do not respond to dietary changes or are more severe, your pediatrician may recommend a medication to help treat the problem.

Contact your child’s doctor if you have any questions or concerns about your child and constipation.