- Kelly Heger's daughter, Jillian, was diagnosed with a rare genetic disease as a baby.
- Heger trained as a nurse so she could help care for Jillian and other kids with similar conditions.
When Kelly Heger graduated from nursing college and got her license to practice as an RN, she had more reason than many others to be proud of her achievement.
The 54-year-old mom had switched professions to become a nurse so she could better care for her daughter, Jillian, who has a rare genetic disease. She vowed to acquire the knowledge to level with Jillian's medical team.
"They knew that there was no point beating around the bush since I knew exactly what they were talking about," Heger told Insider. She said 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.
Jillian's dangerously low blood pressure and temperature threatened her life
Jillian was diagnosed with the little-known condition — aromatic l-amino acid decarboxylase deficiency — or AADC, when she was 5 months old.
The disorder is life-threatening and has no known cure. It affects the brain, causes weak muscle tone, and affects childhood development.
Heger said that her pregnancy and labor with Jillian had both been normal. But only one day after she was born, Jillian's body temperature dropped to just over 90 degrees. Her blood pressure was dangerously low.
She had difficulty breathing, Heger said, and added that "she was hypothermic."
Jillian spent the first month of her life in a specialist ICU for infants. Her condition stabilized and she was allowed to go home.
However, she would sleep for 23 hours a day and had poor muscle tone. Then, to her parents' alarm, she 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."
Heger, who had recorded some of the episodes, contacted a children's hospital in Boston, Massachusetts, an hourlong drive from where the family lived. They told Heger and her husband, Bruce, to bring Jillian in right away.
Medical staff performed a spinal tap on Jillian, and a neurologist analyzed the results. By coincidence, she'd diagnosed another child with AADC — despite the condition being incredibly rare — a few months earlier.
Jillian has needed round-the-clock care since she was first diagnosed
"We were lucky because she knew what to look for," Heger said.
It was 1995 and the Internet barely existed. Heger read about Jillian's condition in medical textbooks borrowed from her local library. She said that she had genetic testing along with her husband. The results showed that they were both carriers of the AADC gene.
Heger read that Jillian, who had undergone a tracheotomy, "was at risk every day for sudden death." She said that the condition severely affected her daughter's autonomic nervous system.
Jillian required 24-hour care. Heger said that a succession of nurses, therapists, and other medical professionals visited the house to help treat her daughter. Still, she was the primary caregiver, looking after Jillian and her three siblings.
"It was basically learn-as-you-go," Heger said.
The former paralegal embarked on her journey to get a nursing degree in 1996, a year after Jillian's diagnosis. She studied on a part-time basis and often had to take breaks to focus on Jillian and the rest of the family.
"I wanted to qualify as a nurse because I wanted to educate myself to understand what my daughter was going through," Heger, who qualified as an RN in 2006, said.
"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 described her nursing training as "extremely overwhelming, but uplifting."
Heger founded a charity to sponsor research and provide support to other families
Heger said that ever since she became a licensed nurse, she has helped the families of other children with debilitating genetic conditions such as 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 said that she gives them guidance on everything from hiring carers to dealing with health insurance.
As for Jillian, who is now 26, Heger said that she is a constant joy. She said that she loves music and smiles whenever she hears her favorite songs.
Heger, who founded the charity AADC Family Network to fund research and support families like her own, said that her daughter enjoys sensory input from the simplest of things. "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," Heger said.