Mom Becomes a Nurse to Care for Her Daughter with Rare Genetic Condition

Kelley Heger’s life changed dramatically when her five-month-old daughter Jullian was diagnosed with a rare genetic disorder known as aromatic l-amino acid decarboxylase deficiency, or AADC. The disorder affects the brain, muscle tone, and childhood development. It is considered life-threatening with no known cure.

The 54-year-old decided to pursue nursing to better care for her daughter. She wanted to acquire enough knowledge to level with Jullian’s doctors.

“They knew that there was no point beating around the bush since I knew exactly what they were talking about,” Heger said. She added that some of the physicians assumed she was a doctor because of her understanding of medicine.

“It made me feel like I was even more a part of Jillian’s team,” Heger said.

She explained that her pregnancy and labor were normal with Jullian, but the baby’s blood pressure dropped and her body temperature dipped below 90 degrees the day after she was born. Jullian had trouble breathing and was “hypothermic,” according to Heger.

Her daughter spent the first month of her life in the NICU. She was allowed to go home once her condition stabilized.

But she was sleeping 23 hours a day with poor muscle tone, Heger said. Jullian then began to have episodes where her eyes would roll back into her head, her neck would rotate, and her whole body would arch.

“Her face would become extremely pale and gray,” Heger said. “She would have trouble breathing and, as her mom, it was very frightening to see her this way.”

She contacted a children’s hospital in Boston, MA, about an hour away from where they lived. The doctors told Heger and her husband, Bruce, to bring Jullian immediately.

The staff performed a spinal tap on Jullian. The neurologist diagnosed her with AADC based on the results. She told the parents that she had just diagnosed another child with the same condition a few months earlier.

“We were lucky because she knew what to look for,” Heger said.

Jullian required around-the-clock care. She underwent a tracheotomy and “was at risk every day for sudden death,” Heger explained.

After researching the condition on her own, Heger decided to sign her and her husband up for genetic testing, which revealed that they were both carriers of the AADC gene.

Even though Jullian had access to a team of nurses, therapists, and medical specialists, Heger still felt like she was her primary caregiver. “It was basically learn-as-you-go,” Heger said.

She enrolled in nursing school in 1996, a year after daughter’s diagnosis. Heger studies on a part-time basis while taking care of her three children and monitoring Jullian’s care.

“I wanted to qualify as a nurse because I wanted to educate myself to understand what my daughter was going through,” said Heger, who became a RN in 2006.

“I didn’t want Jillian’s physicians to talk around the disease,” she said. “I was determined to keep track of the medical terminology and have them talk to me as if I was one of their colleagues.”

She found the experience to be “extremely overwhelming, but uplifting.”

Since becoming a nurse, she has used her knowledge to help other children with rare, debilitating genetic conditions, Fragile X syndrome and spinal-muscular atrophy.

“They know that I have lived their life,” Heger said of the parents who seek her advice. She gives families guidance on everything from hiring caregivers to dealing with health insurance.

She also founded the charity AADC Family Network to raise money for research and families struggling with a diagnosis.

Jullian is now 26 and is loving life, according to Heger.

“She likes to go to the beach to feel the wind on her face or lie down in the snow and make snow angels,” she said. “She loves to be involved.”