CRESTVIEW, Fla. (WJHG / WECP) – At first glance, Carson Talbert looks like a normal, happy one-year-old, but was diagnosed with a rare genetic disorder when Carson was less than a month old.
“It’s called homocystinuria because of severe MTHFR deficiency,” said Grace Talbert, Carson’s mother. “There are only about 50 documented cases worldwide.”
Since her diagnosis, Carson has been on drugs that appear to help.
“There are little things my daughter should probably be doing but not doing,” Talbert. “Fortunately, she is really fine because she was diagnosed early and started medication early. Of all MTHFR-severe patients, it is one of the better cases. Fortunately, but that’s because she started medication after three weeks. “
However one fears that her mother has the unknown.
“Personally, I have never met an adult with it. I mostly see younger children so I don’t know what their life will be like as she gets older. There really is no one to compare it to, and there really is no one to compare to being diagnosed so early. “
HCU has no cure, but the Talbert family has started Fundraiser To raise money for research to hopefully find one one day.
“My daughters write homocystinuria because of severe MTHFR deficiency, no studies are ongoing,” said Talbert. “We hope that maybe a cure will be found in about 20 years, hopefully. But realistically this may not be the case, especially if there are no funds for research. “
Until a cure is found, her parents will do whatever they can to make Carson laugh and have fun with their big sister.
According to Carson’s parents, after their daughters were diagnosed, they were tested for HCU and discovered they were both carriers.
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