Alex and Gilda Fernandez feared the worst when the Miami Children’s Hospital geneticist asked them to meet in her office immediately. But they never expected this.
The Fernandezes, of West Miami-Dade, found out in March that their 2-year-old son, Cristian, suffered from Tay-Sachs, a rare and fatal disease that is diagnosed in fewer than 30 children every year in North America. The genetic disorder robs its victims of an important enzyme, beta hexosaminidase A, that breaks down cell waste products. As this waste gradually builds up, the cells become distended with fatty material. Mental and physical deterioration follows. There is no cure.
Tay-Sachs is most common among Jewish people of Eastern European descent — one in 30 carry the defective gene, a rate that is about 10 times that of the general population. Other groups with a higher-than-normal incidence rate include French Canadians, Louisiana Cajuns and Irish-Americans.
As far as they know, the Fernandezes have no ties to any of these groups. They’re Cuban Catholics. Yet both carry the recessive gene — there’s a 1-in-250 chance of carrying the gene if you don’t belong to one of the high-risk groups — that causes Tay-Sachs. An older daughter, 4-year-old Isabella, is not affected.
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“We knew it was something bad when we got the call,” recalls Alex, 40, a financial planner for Wells Fargo, “but it never even crossed our minds that it could be this.”
As the couple battle to keep Cristian strong enough to be a candidate for experimental treatment, they also want to increase awareness of the disease.
Screening for Tay-Sachs, based on a simple blood test, was developed in the 1970s. The test became widely popular among the Jewish population, with mass screenings at temples and community centers. Known cases among this population dropped by 90 percent.
However, the number of Tay-Sachs babies born to non-Jews has remained relatively steady, with few fluctuations. The rising rates of Jewish intermarriages prompted the National Tay-Sachs & Allied Diseases Association (NTSAD) to issue a statement stressing the importance of enzyme testing — not solely on DNA testing, which is considered less sensitive — to discover whether individuals are Tay-Sachs carriers. When both parents carry the gene, they have a 25 percent chance of having a Tay-Sachs baby.
“Until a cure is found,” says NTSAD executive director Sue Kahn, “education, coupled with carrier screening is the most effective form of prevention.”
Gilda, 34, had a normal pregnancy with both Isabella and Cristian. No one in her family or in Alex’s family has had a child with Tay-Sachs. As a biology-chemistry major, Alex had studied the disease and was well aware of its devastating impact. Gilda, on the other hand, can’t remember hearing anybody talk about it.
Neither was screened for Tay-Sachs or any other genetic disease because they didn’t fall into any of the high-risk populations. Now both are strong advocates of genetic testing. “If it happened to us, it can happen to anyone,” Alex says.
During his first year, Cristian reached the normal milestones of infancy: rolling over in his crib, sitting, crawling and then toddling around while holding onto furniture.
“Around the time he turned 1, I noticed he stopped progressing,” Gilda said. “Actually he went backwards. At 14 months, he stopped crawling altogether.”
The Fernandezes took their son to the pediatrician. They were told Cristian was still within the normal range of development. Still worried, they went to a pediatric neurologist, who diagnosed hypotonia, characterized by low muscle tone. Cristian began speech, physical and occupational therapy. After six months, therapists were concerned with his lack of progress. So were his parents. That’s when they visited a Miami Children’s geneticist and received the devastating news.
They sobbed and raged in her office. But on the long trip home, the couple decided “we weren’t going to let this define us,” Alex says. “I knew I had to bounce back quickly. I had to continue working and supporting my family and we had to find out as much as we could about the disease.”
Since then, they have scoured the Internet for information, attended a conference on the disease and met with researchers conducting a gene therapy trial in the hope that Cristian might qualify. The Fernandezes also hold out hope for another experimental treatment which uses pyrimethamine, or PYR, commonly used as an anti-malaria drug. Test tube studies have shown that PYR can help the Hex-A enzyme, which is deficient in Tay-Sachs patients, to function in a normal manner.
Alex’s brother, Juan, has created a webpage, giveforward.com/hopeforcristian, to inform curious friends and relatives about Tay-Sachs and to raise funds for Cristian’s therapy and medical care.
The Fernandezes admit they still endure some sleepless nights. “Every day I ask myself, Why? Why us? But that doesn’t get us anywhere,” says Gilda.
Adds Alex: “The stress, the emotional roller coaster has changed us as a family and as individuals.”
The most difficult part of the ongoing ordeal is not the care Cristian needs but “knowing that you’re living with a child who is dying,” Alex says.
Nevertheless, the Fernandezes live day to day, seizing family time. Days after Cristian’s diagnosis, they traveled to Disney World. For his second birthday in June, “we did it up at Jungle Island. We don’t know if there’s going to be a third,” Alex says.
And even as tears well in their eyes as they talk about their little boy propped up by pillows in his playpen, the couple say they are not giving up on their fight to save Cristian or raise awareness of the disease.
“What keeps us going is hope,” Alex says.