OC Register: Aliso Viejo Nonprofit Shines on Rare Disease

After a decade of searching for a diagnosis to their children’s mysterious affliction, Ann Marie Jennison and husband Jeff finally have an answer.

Through a rare Exome Sequencing genetic test, which took seven months, their children – Charlie, 10, and Jane, 7 –were discovered to be the 10th and 11th children in the world to suffer from the congenital disease known as NGLY1 Deficiency.

“There isn’t a cure yet, but to have a diagnosis means that it’s time to roll up our sleeves and dust ourselves off and focus on the future,” said Ann Marie Jennison of Ladera Ranch. “God is not finished with our children yet.”

This week, they have a special purpose for marking World Rare Disease Day on Saturday with Global Genes, the nonprofit in Aliso Viejo that led them toward a diagnosis.

For more than a decade, Charlie Jennison was thought to suffer from mild cerebral palsy; for seven years, his sister Jane appeared to suffer from the same disease. Doctors said it was most likely due to them having a stroke in utero.

“My gut always told me differently,” Jennison said.

Throughout the years, the siblings have gone through an array of tests, which all came back showing normal brain development and no gene abnormalities. Despite the puzzling diagnosis of cerebral palsy, the parents launched an arsenal of treatments to help their children along with their delayed development of walking and talking: acupuncture, physical and occupational therapy, speech therapy, hyperbaric oxygen therapy and therapeutic horseback riding. Both kids also have multiple seizures each day in the form of staring spells and have no tear production.

Read the full article here.