Described as sassy and sweet by her Mom, Ruby, 5, is the only child of Raquel and Jack Cahill. Her journey with Leigh syndrome started early, around 4.5 months old.
After a straightforward birth and delivery, Raquel and Jack recognized that Ruby wasn’t meeting basic milestones like being able to hold her head up or working toward sitting. She also stopped rolling over and no longer was reaching for things or putting toys in her mouth.
At 6 months old, she stopped crying altogether and her hypotonia (low muscle tone) got more severe. Additionally, she was having a hard time sucking a bottle and she was not showing much interest in food.
Over the course of those months, Raquel brought up their concerns with Ruby’s pediatrician, but he dismissed them and acted like Raquel was over reacting. However, he did eventually provide a referral to a feeding clinic, which Ruby visited when she was 7.5 months old.
At the first appointment, the gastroenterologist took one look at Ruby and told Raquel something was very wrong. He admitted her directly to the hospital for a nasogastric tube (NG tube). That was Ruby’s first hospitalization and the family’s first time to hear that Ruby might have a mitochondrial disorder.
About two months later, Ruby underwent magnetic resonance imaging (MRI) and genetic testing, which confirmed a diagnosis of Leigh syndrome. Leigh syndrome is a pediatric-onset, progressive and fatal neurological disease closely linked to Parkinson's disease. Ruby was only 11 months old.
While treatment options are limited, Ruby was prescribed the Mito Cocktail, an individualized vitamin and supplement therapy that is known to help patients with mitochondrial disease, and she underwent surgery to place a gastrostomy tube (G-tube). Unfortunately, after surgery, Ruby started exhibiting seizures, and it took another hospitalization and new medication to get them under control.
Today, Ruby is medically stable. She recently started pre-school and loves the interaction with her teachers, therapists and classmates. While she has a long road ahead of her, the family is thankful for a community of supporters. They also feel fortunate to now have a medical team who understands Ruby’s condition and chooses to walk beside them on the journey.
“I want to impart to parents that it is perfectly okay and justified to seek out another physician if you believe you are not being heard or dismissed,” said Raquel. “After our difficulty at the beginning, we’ve learned the right doctor will always put pride aside and do what’s best for the patient, not their ego.”