November Featured Alexander Disease Patient
At 9 months old, Meris White was gagging and retching when her parents attempted to feed her pureed baby foods. Still, at her 9 month doctor visit, pediatricians didn't seem concerned. Meris' parents, Qwynn and Brandon White, weren't convinced that this was a typical delay, so they continued to press for answers. While many first time parents are dismissed as being overly cautious, the White's decided not to ignore their instincts and reached out to the Tennessee Early Intervention System (TEIS) on their own to have Meris evaluated.
Through TEIS, the White family learned that not only was Meris delayed in feeding, she was also delayed in gross motor skills. They were able to enroll Meris in several therapy services through TEIS, which eventually lead to referrals to a GI specialist and a neurologist. The neurologist originally suspected Choreroathetoid Cerebral Palsy, so they ordered an MRI. The radiologist was the first to suggest Alexander Disease. After the initial MRI, the White's were sent to a geneticist to have full genomic exome sequencing testing to look for Leukodystrophies.
Two months later, in November 2017, Meris had an official Diagnosis.
It took a couple of months to process that their little girl had Alexander Disease, but once Qwynn and Brandon shared Meris' diagnosis publicly, they were almost immediately connected to the Ledbetter family, whose son, Grayson, also had AxD. After meeting the Ledbetters for an AxD fundraiser, the White family felt an outpouring of love and support from others in the leukodystrophy and Alexander Disease community. Being a part of the community quickly led them to Children's Hospital of Philadelphia (CHOP).
They were able to travel to CHOP in March 2018 to meet with Doctors and Specialists, who understood AxD much better than Knoxville doctors had. The White Family still lives in Knoxville, TN, and Meris receives weekly therapy locally, but they rely on CHOP for her best care. "Several of our local doctors have been completely honest in saying that they do not know anything about Alexander Disease and would let CHOP take over her care." Distance makes it difficult, but Meris continues to make progress in all areas. In the past year, under advisement from her local team as well as the team at CHOP, Meris had a G-tube surgically placed to insure she gets all the nutrients her body needs. She continues treatment by her local pediatrician, GI specialist and physiatrist in addition to the team at CHOP.
Qwynn and Brandon continue to be Meris' biggest advocates, relying on their faith and the love and support of their family and community to stay grounded and hopeful. They hold on to hope for a treatment and cure for AxD.