Germantown mother raises three children with fragile X syndrome -- Gazette.Net


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What is Fragile X syndrome?
Fragile X syndrome is a genetic condition caused by a mutation of the Fragile X Mental Retardation 1 (FMR1) gene, located on the X chromosome.
Men who carry the premutated gene can pass it down to their daughters, but not their sons. From there, a woman has a 50 percent chance of inheriting the mutated gene, which can be passed down for generations until a child in the family is born with fragile X syndrome.
In the case of the Sotomarinos, Monique’s late father carried the premutated gene, which was passed to her.
About 1 in 259 women carry fragile X and could pass it to their children.
Individuals born with fragile X can exhibit such physical features as a long face, large ears, flat feet and low muscle tone. Other symptoms include intellectual disabilities ranging from mild learning disabilities to mental retardation, autism, delayed speech, hypersensitivity to loud noises or bright lights, anxiety and mood swings.
While fragile X affects 1 in 4,000 males and 1 in 6,000 females, symptoms are more prominent in males, because their only X chromosome contains the mutated gene. Females, on the other hand, have two X chromosomes.
Source: FRAXA Research Foundation

Raising children is difficult for any single parent, but Monique Sotomarino’s three sons present additional challenges.

The Germantown family’s day starts between 3 and 5 a.m., sometimes earlier, depending on what time the boys wake up. Then there’s school, occupational therapy, speech therapy and, on occasion, appointments with developmental pediatricians on both sides of the country.

Sotomarino’s sons, 7-year-old twins Sebastian and Santiago and 5-year-old Luca, all have fragile X syndrome, a genetic condition that is the most common inherited cause of mental impairment, according to the National Fragile X Foundation.

“They have to deal with anxiety,” Sotomarino said. “I have to find enclosed parks for them to play in case they run off.”

Finding out about the disease did not come quickly for Sotomarino. Her obstetrician never mentioned fragile X, and five pediatricians told her that Sebastian and Santiago’s developmental delays had to do with the twins’ premature birth.

Unsatisfied with those answers, she brought the twins to Children's Outpatient Center of Northern Virginia in Fairfax, where, after a series of tests, doctors diagnosed fragile X. By then, Sotomarino was already seven months pregnant with Luca.

While all three boys have fragile X, it manifests differently in each of them. Santiago has behavioral issues, while Sebastian is still potty training, Sotomarino said. All three have autism, but the twins’ is moderate to severe, while Luca is high-functioning. Starting this fall, he will be placed in a mainstream class.

“My biggest fear is, God-forbid, something happens to me,” Sotomarino said. “I just want them to be independent.”

Sotomarino, who is divorced, relies on a support system of others, like friend Wilbur Periera and his family, who have become close with the Sotomarinos over the past few months.“We help out whatever we can,” he said.

His son, Dominic Pereira, 14, has built his own bond with the Sotomarino boys.

“Luca is adorable, and the twins are a little more complicated,” he said, jokingly. “But they’re still wonderful kids.”

Since learning about fragile X, Sotomarino has taken it upon herself to educate others. In addition to holding support groups, she gives teachers and aides her phone number to pass along to parents dealing with the disease. She also sits on the board of the Montgomery County Chapter of the Autism Society of America, and is active with the FRAXA Research Foundation and the National Fragile X Foundation, which has identified Friday as National Fragile X Awareness Day.

“They’re always misunderstood,” Sotomarino said of her sons. “They’re just fun, loving kids. They’re not judgmental, they’re affectionate. They’re angels that don’t know what’s right or wrong.”