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.