Manteca family finds new hope as twin daughters live with rare genetic disorder
MANTECA — Manteca twins were born with a rare disease that affects just more than 1,200 globally. It's left them stunted emotionally and physically.
Augustin Polanco preps his twin 19-year-old daughters for school.
Esperanza and Libertad, or Espy and Libby for short, suffer from a rare disease called syngap1. It's left them unable to speak and with many other developmental delays.
The girls were born prematurely. Espy had problems with her heart and face and was born with an ear deformity. There were many surgeries.
"We spent a lot of time in the hospital, months and months," Augustin said.
But it wasn't until they were toddlers that Polanco and his wife realized they just weren't developing like other children and there were physical and emotional issues.
"We can't hug because they don't like it. They just, they come out when they need something but stay in their room most of the time," Augustin said.
They were initially diagnosed with autism, something Polanco and his wife found hard to accept. In 2020, a genetic test revealed the twins had syngap1.
"I asked them if there was a cure for that, and they said 'No.' So I forget about it. It was just another test and just another diagnosis," Augustin said.
But Espy began having seizures.
"That was a game-changer. We didn't know what to do. It was terrible. Really bad seizures," Augustin said.
The family desperately searched for answers online, eventually finding a group called the Syngap Research Fund. It was a blessing.
"We found out what was causing the autism, what was causing the seizures, and we got a lot of help from them," Augustin said.
Dr. Christopher Lee-Messer, a pediatric neurologist, explains how the disease affects the brain.
"The gene, syngap1, is affected so it does not produce a good copy of it," he said.
"It's expressed specifically at the area where neurons, the cells of the brain, communicate to one another," Lee-Messer said. "And so, in the course of development, it's important to have the right amount in order to make synapses that are formed correctly."
It's an ongoing process that starts in the womb and continues through adulthood.
"There are only symptomatic treatments at this point, so we don't have a way yet to restore the missing function," Lee-Messer said.
Treatments include physical therapy, ways to adjust social skills, and medicine to help with extreme insomnia.
Paulina Polanco, 25, stepped in to help along with her two other sisters.
"I think my sisters and I have had to mature a lot quicker than other people our age usually do because we have to care for and protect, be their voices, learn how to be advocates," Paulina said.
They take turns being caretakers.
"I think having sisters with a disability has made me more patient and more responsible," the 25-year-old said.
Their father now has hope for his girls who are still child-like.
"They are still babies, but they are always going to be our babies," Augustin said.
