Utah Family Stays Optimistic After Rare, Fatal Disease Diagnosis

SALT LAKE CITY, Utah (ABC4 UTAH) - A rare and fatal genetic disorder isn't stopping one Utah family from enjoying life.  One-year-old Jeter Brinson suffers from Tay Sachs disease.  Only 1 our of 200,000 children are diagnosed each year.  The disease is destroying nerve cells in Baby Jeter's brain and spinal cord.

Baby Jeter Brinson--named after the famous New York Yankee shortstop--couldn't smile any bigger.  Those big cheeks filled with laughter at the center of his parents' lives, but the giggles soon turned to silence.

"He holds his breath and starts turning blue.  You can see the terror on his face," said Jeter's mom Christy Brinson

At 6-months-old, a trip to the hospital ended with devastating news.

"His neurologists said, " I think your son might have Tay Sachs disease.  And we're like 'okay, what is that, just give him a pill, no big deal," said Brinson.

"One gene comes from one parent, another gene comes from another.  And if they're a carrier, and they have an abnormal gene, then there's a one in four chance that any child they conceive would have a combination of two abnormal genes," said Dr. Dave Viskochil, a Medical Geneticist at the University of Utah.

Jeter is in the 25% of having both genes.

"I have been at the University of Utah since 1983 and seen one other baby," said Janice Palumbous, Genetic Counselor at the University of Utah.

Tay Sachs takes over every aspect of life.

"When starting a family you don't plan on an unhealthy child, you plan on a healthy happy baby, and we were pretty much sideswiped," said Brinson.

The deteriorating brain and spinal cord cells means Jeter isn't developing normally.

"We usually see some floppiness, a decrease in the ability to sit, to maintain the milestones that they have gathered" said Dr. Dave Viskochil.

Seizures, vision and hearing loss, paralysis, and ultimately, death.  Jeter will likely die before his first day at kindergarten, but that doesn't mean the Brinsons are giving up.

"We decided we can't dwell on what he used to be able to do or how he used to be or what could happen. The only time we have with him is right now, and that's what we are guaranteed.  I mean he's my big angel baby," said Brinson.

The Brinsons have another angel baby. Jeter's brother who doesn't have Tay Sachs, but brings just as much joy.

Cystic Fibrosis is another genetically inherited disease just like Tay Sachs.  Now that people know Jeter's story, his family hopes other parents will get tested for the gene mutation, see the symptoms in their kids, and will get help soon.

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