Mary Danielle Moore, or “Dani” as her family and friends call her, is the baby of the family and adored by her parents Camille and Stephen and her two older brothers Jake and Luke. Born in 2012, her journey starts like that of many others who battle Leigh syndrome.
Although Dani’s Mom was labeled as “advanced maternal age,” Camille’s pregnancy and Dani’s birth were by the book. But within days, the veteran Mom knew something was amiss.
For starters, Dani was nearly impossible to feed. “It was hard work,” said Camille. “She was on a two-hour feeding schedule, but it took nearly the whole time to get Dani to eat just one ounce.”
Another puzzling thing was how much Dani slept. Camille could hardly get her to wake up and she felt like something was very wrong. She recalls the day they went to the first pediatrician appointment. “Dani never woke up. She slept through diaper changes, clothing changes, the car ride, the waiting room, and even the doctor visit with all the poking and prodding.” At the appointment, the pediatrician diagnosed Dani as failure to thrive, and made note of her low tone. He then advised them to take her immediately to a local emergency room for further evaluation.
The hospital ran a battery of tests including a spinal tap and magnetic resonance imaging (MRI). The MRI picked up lesions on the brain, a hallmark of Leigh syndrome, but the doctors didn’t know what to make of them at the time. After a 5-6 day hospital stay, Camille and Stephen took Dani home determined to find out what was wrong.
Months went by and Dani couldn’t meet the smallest of developmental milestones, but her family wouldn’t give up. After hours of research and consultations with a number of specialists, the family found Dr. Mary Kay Koenig, M.D., medical director of the UTHealth Mitochondrial Center of Excellence. Dani underwent genetic testing that came back as inconclusive. However, due to the lesions on her brain and associated symptoms, Dani was diagnosed as having Leigh-like syndrome.
Now 9 years old, Dani is non-verbal and non-ambulatory. She has severe dysphagia (difficulty swallowing), which led to placement of a gastrostomy tube (G-tube), and dystonia. She sees a variety of specialists to improve her quality of life, but they can’t yet provide a cure. Until then, Camille’s hope is that Dani has a happy life, she knows she’s loved, her health remains stable, and that one day she’ll hear Dani call her “Momma.”