Edmond Family Raising Awareness For Son With Rare Genetic Deficiency

An Edmond family is hoping to raise awareness after their one-year-old was diagnosed with a rare genetic deficiency. Less than 60 people have been diagnosed with this gene deficiency and the outcome isn’t good. But the Lloyd’s are continuing to fight for their son.

The Lloyd family spent the first days of their son's life in and out of the hospital, trying to figure out what was wrong with their newborn, Gavin. After many doctors calling Gavin's symptoms, a mystery, one doctor urged the Lloyd's to have genetic testing done on Gavin.

Then, he was finally given a diagnosis: SIFD TRNT1 gene deficiency ( Sideroblastic Anemia Immunodeficiency Fever Developmental Delay). The gene deficiency attacks the nervous system, immune system, eyes and brain function.

“Even when we were talking to the genetic doctor, she was like 'I don't know what this is- give me a couple weeks I've got to dig into it', so it's just been frustrating because there's not a lot of data," said Ashley Lloyd, Gavin's mother.

Gavin has at least five doctors he sees regularly and attends multiple therapy sessions. Lloyd explains Gavin is not constantly visibly sick, but when he is, he suffers from an array of symptoms.

“He goes through these phases where he's really happy and bubbly and normal then it's about every four to six weeks he'll get really sick," said Lloyd.

“He can run a fever, he can have seizures, sideroblastic anemia, which he has, immunodeficiency, and the developmental delay-,which he has. he is definitely behind. He has cataracts and he had to get those removed so he can't see very well and now has contacts and glasses that he wears. it's just horrible, it’s this never-ending spiral of just trying to figure out what to do," said Lloyd.

While the list of symptoms goes on, the treatments are limited, and the cure has yet to be discovered.

“From the data I've researched, a lot of the kids don't make it past 10. The outcome isn't really good. Some kids can beat it, I guess you can say but a lot of them don't," said Lloyd.

Lloyd says the one treatment option doctors have given is a bone marrow transplant but says it's a risky procedure.

“Some kids get through it, and some don't, and their bodies shut down and they pass away. That's kind of the only option, and it's like I don't know if we even wanna go down that road but at the same time, we gotta try," said Lloyd.

She says as frustrating as it is to be facing something so unfamiliar, she is not giving up hope that somebody has answers, treatment options, or even a cure.

“We went through denial and sadness and now it's anxiety, not knowing what tomorrow is gonna bring. I think the hardest part is the unknown because you're trusting these doctors and you're trusting science but sometimes it's not enough," said Lloyd.

To follow along with Gavin's journey, or help support the Lloyd family CLICK HERE.