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.”

It’s not about being rude or even shy, it’s just he wants to make darn sure the love is spread around for the people that make up the Neuro-Oncology Program at Cook Children’s.

“That’s probably the reason why I don’t like to do these interviews! I don’t want the attention on me,” Dr. Murray said. “The bottom line is the kids and the team that takes care of them. It’s not me. There has to be a leader. I understand the hierarchy that has to be there. I accept that, but begrudgingly. I am proud of our Neuro-Oncology team. We are truly interchangeable in so many ways.”

This is not just humble speak on Dr. Murray’s part. A large part of the reason he became Medical Director of Neuro-Oncology is because one of his gifts is to build a solid, capable team that he empowers to do their work to the best of their ability.

When asked to talk about Dr. Murray, Mandy Mansell, the nurse practitioner for the Neuro-Oncology Program, says she’s “surprised he is letting you do a story on him.” Mansell praises Dr. Murray as a teacher and says he’s “constantly looking to work his way out of a job by training his staff to function so well.”

Dr. Murray is fond of saying if he gets hit by a bus, his team of Mansell, Neuro-Oncology Nurse Ashleigh Hines and Kelly Rand, the team’s social worker, could step right in and do his job.

“No other team of medical providers can say that they have educational support like we do,” Mansell said. “He does trust us implicitly and values our gut instinct/experiences, because he has taught us those things. He doesn’t view himself as the leader, but more as just another member of the team. Our structure flows naturally out of this. Communication is fluid and immediate because we all contribute to the turning of the wheel in Neuro-Onc. He is constantly telling us that we don’t need him or that we ‘run the program.’ This is validating and continues to make us want to work hard.”

Communication is key for Dr. Murray. Watch him throughout the day and you’ll find him on his phone or on his computer. He’s either e-mailing his co-workers on patient care or checking with colleagues across the nation on the best way to handle a case. He’s also there for those same colleagues when they need help from him.

Dr. Murray jokes that he texts with the neurosurgeons throughout the day like they are teenagers, but adds they are in constant contact for the very serious reasons of making sure they are providing the best care possible for their patients.

“Dr. Murray has been an invaluable addition to our Neurosciences team,” said John Honeycutt, M.D., medical director of Neurosurgery at Cook Children’s. “He has spearheaded our Neuro-Oncology program. Jeff works very closely with us about each individual patient. We have continuous back-and-forth conversations, with emails and texts at the time of diagnosis and initial treatments (surgery) and after care. He readily assumes responsibility for each patient and immediately has his Neuro-Onc team start working on appointments, follow-up, treatment plans, etc. This easy communication with his colleagues allows seamless transition of care and provides personalized care for each patient and their family. Families love the thoroughness and honesty that Jeff brings.”

Linda Margraf, M.D., a pathologist at Cook Children’s, says no one goes as far as Dr. Murray to make sure everyone is kept in the loop of patient care. He doesn’t just send a piece of tissue or wait for the scan to come back. He sends as much background as possible to the pathologists to help them before they even look at the microscope.

He sends emails to Pathology to inform staff of details about an upcoming tumor surgery including the radiology findings and any significant clinical concerns. He visits the team with any special issues and when time allows, he will present patient cases at the Neuro-Oncology tumor board prior to tumor surgery so the pathologists can review the images and hear about plans and concerns of the neurosurgeons regarding the case.

“For some types of tumors (and many other conditions), knowing what the imaging studies show is quite important in rendering an accurate pathology diagnosis,” Dr. Margraf said. “His approach also improves communication between the various specialties, both during the tumor board conference and after. He always emphasizes how much Neuro-Oncology is a team effort and all caregivers, not just the pathologist, benefit from this approach. I think this truly optimizes care for the patient and family.”

Dr. Murray’s team approach and emphasis on communication includes more than physicians. On every email, he copies Rand, the social worker, and Peggy Johnson in Pastoral Care. He consistently invites team members (nurse practitioners, nurses, social workers and chaplain) to attend every formal diagnosis conference and every progression on treatment or relapse conference, as well as every end-of therapy conference.

“He trusts that everyone will bring their professional best to the table for our patients and their families,” Rand said. “He values every team member and their professional expertise, and he actively seeks out the knowledge and thoughts we each have to offer. Dr. Murray is as brilliant as he is humble. He’ll often say that our RN, Ashleigh, and nurse practitioner, Mandy, are the brains behind the whole operation. I think that shows how highly he values his team members and their hard work and commitment to our patients.”

The Neuro-Oncology team faces tough challenges every day. They treat patients for tumors in the brain, brainstem, optic tract and spine, as well as neurofibromatosis and more.

Dr. Murray admits that these day-to-day battles of life and death wear on him. He places the heartache after the death of a patient away somewhere and says he may walk around with a permanent case of post-traumatic stress disorder.

But Dr. Murray moves on and says he tries his best to put his job behind him while he’s at home with his wife and son.

“Obviously you feel for these families and certainly after I had my own child it's become more difficult as it would for anybody because you start feeling … putting yourself in the shoes of those parents,” Dr. Murray said. “Of course it's most difficult when I'm dealing with a child who is exactly the age of my child and happens to be boy like my own son. It's very difficult. I have to catch my emotions and be relatively emotion free when I'm talking to families like that. So it's gotten more difficult since I've had a child, but not impossible.

“And also except for a couple of exceptions most of these kids will be cured. They will be fixed. They may have some damage and some side effects that last a long time but most of these kids are going to be OK. I've learned a lot about the human spirit from a parent’s point of view. It is stronger than you can imagine. It's just witnessing it over and over again. Parents and families in spite of hearing horrible news are almost always able to rally and create something special for their child. Whether it's a child who is going to live or a child who is going to die, it's remarkable how families can create an environment around them to create something really good.”

Just like the Neuro-Oncology family he’s created at Cook Children’s … something really good.

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