How Families Are Driving The Study Of Autism Genes

It looks at first glance like any other Friday at Legoland Discovery Center in Grapevine, Texas: About half a dozen children line up for the colorful rides or pose with life-sized Lego figures. They bear a striking resemblance to one another — with mops of curly hair, wide-set eyes and broad, thin-lipped smiles. Some have flown here from as far away as Australia, and their parents embrace warmly as they spot one another.

When the group heads to lunch at the nearby Rainforest Cafe, Jasey Miller, 12, balks at the entrance: The restaurant is festooned with faux vines and loud, gesticulating robot animals. Noticing her hesitation, 15-year-old Abby Ames takes her by the arm and ushers her in.

Only, this is no family reunion — Jasey and Abby have met only once before, two years ago. But the connections between them go deeper than those that bond many blood relatives. Jasey, Abby’s sister Bridget, 10, and one child in each of the 19 families here carry a mutation in a gene called PACS1.

“I’m with my people,” says Paulette Torres-Chase, whose daughter, Alondra, 5, also has the mutation. “Everybody that comes here is family: It doesn’t matter if your kid is screaming; it doesn’t matter if your kid is sitting in a corner alone — we’re together.”

Children with the mutation in PACS1 all have some form of developmental delay and autism traits; about half have an autism diagnosis. Many also have seizures, motor problems and sensory sensitivities.

Only 110 people worldwide are known to have PACS1 syndrome as of 4 April — or at least are known to this group, PACS1 Smiles. The group spun out of a Facebook page that started in 2014 with only five families. Two years ago, two families decided to vacation together in Virginia. They suggested, half-jokingly, that the others should join them: That led to the first meeting with 14 families in Virginia. The one at Legoland on this March weekend is the group’s second gathering and includes 81 people.

Read the rest of the article here:
https://www.spectrumnews.org/features/deep-dive/families-driving-study-autism-genes/