Abigail aka "Abby Mac" was born on January 24, 2011 at 35 weeks due to pre-mature rupture of membranes (PROM). She arrived at 9:17 PM as a perfectly healthy baby girl with an APGAR score of 8 and 9 respectively. However, Abby failed the Universal Newborn Hearing Screening and was referred for further evaluation. To this day Abby has not passed an ABR test, but responds well to tones, voices and appears to associate words appropriately.
A few notables were the large port wine stain (birthmark – not raised) Abby had on her head that was initially thought to be a bruise from delivery, and she was jaundice but did not need light therapy.
In most aspects Abby appeared to be in good health. Her parents Heidi and Greg did express concerns before being discharged from the hospital because Abby was making very audible breathing sounds (stridor), appeared to have difficulty swallowing, vomited full feeds, refluxed, and sounded junky. Those factors coupled with her rigid tone led them to express their concerns with the hospital staff, but they were quickly dismissed as "new parent anxiety."
Through the first few months of life, Abby’s feeding difficulties increased and the stridor continued. It was not only apparent during feeding, it was all the time. It seemed to be getting worse with time - not improving as they were told it should. The noisy breathing resulted in Heidi and Greg clinging to the monitor at night to make sure they heard every labored breath to know Abby was okay. Additionally, vomits before, during and after a feed were commonplace for Abby. She cried to express her discomfort which would melt into a smile when comforted.
Abby’s first Pediatrician check-up went well. She had gained weight and her jaundice was gone. Her parents voiced their concerns about the ongoing feeding issues, especially the stridor noises she was making when she was awake and asleep. During cuddles they could feel and hear fluid in Abby's chest so they asked the doctor if Abby was aspirating. The doctor listened and after the exam he agreed she sounded "noisy” but stated it appeared to be caused by a floppy airway (laryngomalacia) and that most infants outgrow this by the time they reach a year old without any surgery.
She'll "outgrow this" was a term Heidi and Greg heard very often over the next few months by multiple specialists.
Fast forward through all the regular newborn monthly appointments, and Heidi and Greg arrived at the pediatrician’s office for Abby’s six month appointment expecting more of the same “outgrow this” reassurances, even though Abby had not hit any milestones. Once again, they focused on their concerns that Abby seemed to aspirate with every swallow. Before the routine exam, the pediatrician took her bottle and held it upside down to prove the flow was okay and Abby should not be struggling to swallow appropriately. He did this at every appointment.
He then focused on Abby’s physical aspects – flexibility, head control, sitting up, etc. While trying to bend her legs, he could not, and made a gesture that indicated he realized he may have missed something all along. He quickly suggested they follow up with a neurologist to look at the port-wine stain and see an Ear, Nose and Throat specialist (ENT) about the noisy breathing. Both specialists were at Boston Children's Hospital.
Little did Heidi and Greg know that this was just the beginning of their journey.
After a merry-go-round of doctor appointments, a MRI was scheduled by a Neurologist and a swallow study was requested by a gastroenterologist (GI).
In the swallow study, it was discovered that Abby was aspirating after every swallow. The decision was finally made to place a g-tube to prevent further aspirations and most importantly, to give Abby's body a rest.
She was admitted to the hospital for the g-tube placement and the MRI. The MRI was scheduled first and the results were devastating - it showed lesions in the basal ganglia. That combined with an elevated lactate level in Abby’s blood finally presented a diagnosis – Leigh syndrome.
The years since have been extremely difficult, but Abby has been doing very well the last few years according to her Dad. She has been enrolled in the EPI 743 study since 2013 and Heidi and Greg believe it’s staved off illnesses and hospital admissions.
This month, she entered 4th grade and loves going to school and riding the school bus. Additionally, she and Greg just finished the 2020 Boston Marathon to kick off Mito Week… with a personal record to boot!
Please help PALS fund the resources and research kids like Abby need to better treat and ultimately cure Leigh syndrome.