CBS4 - Once a baby is born, all parents care about is the health of their little one. Every year, 4 million babies are tested for diseases, and around 3,000 are positive for something severe. That's according to the National Library of Medicine. "It's a part of what's called a dried blood spot test." Doctors can check for rare genetic, hormone-related and metabolic conditions that can cause serious health problems.
"I think in particular, there's a couple of new disorders that are being added this year, and one in particular is called the X-ALD or X-linked adrenoleukodystrophy. It is an irreversible and progressive neurological disease that primarily affects males during childhood." That's Dr. Patrick Long. He's a clinical geneticist at Presbyterian/St. Luke's. "If diagnosed early, there are treatments that prevent the progression of disease."
Although most babies get tested, some do not. "There's a rare chance that [people] could have an underlying genetic disorder that could have been screened for, and eventually they will start to present the symptoms that they'll need to probably follow up [about] with some specialists."
Dr. Long suggests getting your baby tested. "Patients, families or providers are more informed of what what to expect over time. The diagnosis also helps to establish appropriate care and treatment with the multi-specialty care team. This could include primary care neurologists. A diagnosis also enables opportunity to enroll in research studies or clinical trials to help understand and treat all forms of X-ALD. By having this diagnosis, patients and families can connect with other patients and families with X-ALD to help understand their experiences."
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