Baby Goes Home After 2 Years in the Hospital for ATR-X Syndrome, a Rare Genetic Condition

A rare genetic condition can sometimes result in extra medical care needed since its rarity often involves special forms of treatment. This happened to a baby, resulting in him having to be transferred after almost two years in the hospital.

Baby with ATR-X Syndrome

According to News Week, a baby boy named Noah had what was described as an X-linked intellectual disability. This is a rare genetic disorder that's known as ATR-X Syndrome.

Noah's parents were told of the disorder while the mother, Carly, was still pregnant. This resulted in their transfer to the Birmingham Children's Hospital, where the boy would spend the first two years of his life.

Reece, the father, shared how their first two scans showed normal results, and it was only during the third scan that they were told of the condition. The father said they had been told their baby's left foot had "club foot."

After the doctors conducted several tests, they concluded that baby Noah had ATR-X Syndrome. News Week reports that Carley and Reece were told about the condition before the baby was born.

Treatment for Baby Noah

Reece said that hearing the news was difficult and that the rare genetic disorder was only recently discovered. Because of this, the father highlighted that there was still a lack of research into the condition.

News Week reports that the parents joined the ATR-X syndrome group and discovered that Noah's case differed. As described, Reece shared that the doctors said Noah had the most profound issue in the UK they've ever seen.

The National Library of Medicine describes the syndrome, ATR-X or Alpha-thalassemia X-linked intellectual disability, by its characteristics, including intellectual disability and potentially severe developmental delay.

Other characteristics included the patient having genital anomalies, distinctive craniofacial features, and hypotonia. Seizures are also commonplace for individuals with ATR-X syndrome, occurring in a third of people with rare genetic disorders.

Intensive Care for Noah

Since then, Noah has remained in and out of intensive care and in the hospital for most of his young life. Five procedures had already been conducted throughout his two-year period at the hospital.

Finally, Noah is well enough to go home with his family, which Reece described as a "miracle" and thanked the doctors and hospital staff. This happened just two months before Noah's birthday.

News Week highlights how Noah's case was the rarest, with him having a cleft palate and a chronic lung condition. Despite the baby finally going home, he still has heart problems and is on regular medication.

Carly, the mother, also thanked everyone involved in the treatment of Noah. Both parents would still have to monitor Noah regarding his condition closely.

The National Organization for Rare Disorders summarizes ATR-X as a rare genetic disorder that affects multiple bodily organs, highlighting its intellectual disability.

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