Local family battles Tay-Sachs disease, fights to save son's life
Annual Tay-Sachs conference begins Thursday in SD
Last Updated: 250 days ago
SAN DIEGO - The annual conference to support those suffering from Tay-Sachs disease is in San Diego this weekend.
10News spoke with one local family who shared their message of hope to save their son.
7-year-old Gavin Marquez cannot walk, talk and must eat through a feeding tube.
"He's fighting every day," said Gavin's mother, Jan Marquez.
The family home in 4S Ranch has turned into a makeshift hospital, with medical equipment next to family photos.
Gavin has Tay-Sachs, a deadly and inherited disease. His mother says Gavin is one of only three children in the county with Tay-Sachs. It is a rare, inherited disorder with destroys the nerve cells.
"When you have a child with Tay-Sachs disease, especially as rare as it is, you're almost like living in a bubble," said Marquez. "Nobody can relate to you, nobody can understand you, nobody can be in your shoes or want to be in your shoes."
Gavin was born seemingly healthy, but when his younger sister was born, his parents knew something was wrong. When he fell, they say he would get back up. He was delayed in all of his developmental milestones. After numerous visits with doctors, Jan and her husband learned that they both carried the gene for Tay-Sachs. Gavin was soon diagnosed with the illness.
"I felt like I died at that moment," Marquez said.
The family has a part-time nurse to help with Gavin's care, which includes clearing his airway several times a day. Marquez says because of the illness, her son is susceptible to other sicknesses like pneumonia.
On Thursday, the National Tay-Sachs and Allied Diseases Association began their conference in Mission Valley. Kim Kubilus, the organization's director of family services, says only 50 kids are currently living with Tay-Sachs in the United States. Because it is such a rare disease, the funding is not there.
"Now we're looking at more than a year before clinical trials can start and for our children, that's literally a lifetime," Kubilus said.
Kubilus said the conference is essential for families, so they know they are not alone.
"They are surrounded by people that love them unconditionally," Kubilus said. "Just a very special weekend for the families to be together."
Kubulis said approximately 200 people will be at the conference, which includes families whose children are living with Tay-Sachs and some who have had children die from the disease. Families come from all over the world. One family is flying in from Poland.
The Marquez family says hope keeps them going.
"Strength is within all of us, but sometimes some of us are in situations where you're forced to use it," Marquez said.
The conference will continue until Sunday at the Mission Valley Marriott.
To learn more about Gavin, click here.
To learn about Tay-Sachs and the San Diego conference, click here.
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