Cape Coral, Florida — Cape Coral parents Jennifer and Nicole McDaigle are seeking community support and information after their two-year-old daughter, Quillen, has received a rare genetic diagnosis. Miami geneticists have diagnosed the toddler with Progressive Early-Onset Encephalopathy with Brain Atrophy and Thin Corpus Callosum (PEBAT) due to a rare genetic mutation on the TBCD gene, of which there are fewer than 20 known cases in the world. This mutation has contributed to the toddler’s delayed development as well as multiple physical regressions that require genetic therapy, physical therapy, home care, and more. The family is traveling to Boston to seek care from Dr. Florian Eichler, Director for Rare Neurological Diseases at Massachusetts General Hospital and is asking the community to contribute to a medical fund and for any medical expertise to treat this condition, due to its rarity and lack of experts.
“We are in awe of the love and support we have received,” said mother Jennifer McDaigle. “We remain hopeful that her brain is not regressing and that we can find some answers and possible solutions to help her move forward during our initial visit next week in Boston. She is scheduled for an initial evaluation on May. After that, she will be asked to return at least six times in order to be considered for any clinical trials. Besides the medical costs, there will be flights, rental cars, and housing for each visit and longer stays for clinical trials. Right now, both parents try to attend important medical visits.”
Family friend Gay Courter has set up a medical fund for them on GoFundMe; funds will be used for airfare to Boston, medical bills, and travel expenses. Interested parties can find more information at www.gofundme.com/
Contact: Jennifer McDaigle — (407)-920-8191
