Family raising money for research after daughter was diagnosed with rare genetic disorder
CRESTVIEW, Fla. (WJHG/WECP) -At first glance, Carson Talbert seems like a normal happy one-year-old, but when Carson was less than a month old, she was diagnosed with a rare genetic disorder.
“It’s called Homocystinuria due to severe MTHFR Deficiency,” said Grace Talbert, Carson’s mom. “There are only about 50 documented cases worldwide.”
Since her diagnosis Carson has started medication which seems to be helping.
“There are little things that I notice my daughter probably should be doing but isn’t,” Talbert. “Thankfully, because she was diagnosed early started the medication early, she is doing really well. Out of all of the MTHFRsevere patients, she is one of the better cases. Thankfully but that is because she started the medication at three weeks.”
However one fears her mother has is the unknown.
“I personally have not met an adult with it. It is mainly younger kids that I see, so I don’t know how her life is going to be as she gets older. There is really nobody to compare it to, and there really is nobody to compare getting diagnosed so early.”
HCU has no cure, but the Talbert family has started a fundraiser to collect money for research to hopefully one day find one.
“My daughters type the Homocystinuria due to Severe MTHFR Deficiency there are no trials going on,” Talbert said. “We are hoping maybe a cure can be found in about 20 years, hopefully. But realistically, that might not be the case, especially if there is no funding to go towards the research.”
Until a cure is found, her parents will do everything they can to keep Carson laughing and having fun with her big sister.
According to Carson’s parents, they were tested for HCU after their daughters’ diagnosis and discovered they were both carriers.
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