A Family’s Journey with Rare Disease | The Power of Knowing [Video]

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Ghaith was born in March of 2023, via uncomplicated Cesarean section at Nationwide Children’s Hospital. Ten minutes later, he made history by receiving his first infusion of a medication that effectively halted the damage that had started to accumulate in his brain as a result of molybdenum cofactor deficiency (MoCD) type A. Ghaith received the earliest administration of treatment for MoCD known to our team.

Not long ago, a diagnosis of molybdenum cofactor deficiency (MoCD) type A meant death before kindergarten. Since the FDA approval of NULIBRY® (fosdenopterin) in 2021, however, children diagnosed with MoCD type A — an inherited metabolic disorder that results in severe developmental delay and neurological damage due to the accumulation of sulfites and S-sulfocysteine (SSC) in the brain — have hope for a significantly longer life. If this intravenous (IV) drug is administered prior to serious brain injury, they may avoid significant intellectual and physical disability. The trick? Getting the diagnosis and beginning treatment before significant damage has been done.

That was a attainable for Ghaith, thanks to his older brother, Jeyad. In 2018, Jeyad was born to and within days of birth, he suffered seizures and went on to experience profound developmental delays. After years of being told his symptoms were due to hypoxic ischemic encephalopathy (HIE) during childbirth, Jeyad’s family moved to central Ohio. During an appointment at “We explored the options, including whether we could get permission from the FDA for emergency use or set up a research study to try to give the fetus the drug in utero, but those all involved unknown risks, and there was no established way to give this drug before birth.” — Bimal Chaudhari, MD, MPH, neonatologist and genetics and genomic medicine specialist at Nationwide Children’s
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Hanan insisted that the typical events leading to HIE had never happened when her son was born. She also mentioned that a niece had been diagnosed with a rare genetic condition that could cause symptoms like her son’s. “A neurologist sent the family to me — I have a reputation for doing evaluations of babies in the NICU who have diseases that look like HIE,” says Bimal Chaudhari, MD, MPH, a neonatologist and genetics and genomic medicine specialist at Nationwide Children’s. “I took a look at the child’s records and said, ‘I’m sorry you’ve been told this, there’s no way your child has HIE,’ and we did genetic testing and got him the right diagnosis.”

The test revealed Jeyad had MoCD type A. Although there had been no treatment available for the condition when he was born, fosdenopterin had been approved by the time of his diagnosis. Finally, the family had an answer, a treatment and a way to prevent further neurodegenerative progression for Jeyad.

Fast-forward 2 years, and Hanan found out she was expecting another child. She was eager to proactively identify expectations for her new child’s health and contacted Jeyad’s geneticist to discuss a game plan. The genetics and maternal-fetal medicine teams at Nationwide Children’s collaborated with Hanan’s obstetric experts at a local hospital system, Ohio Health, who confirmed that this sibling, another son, also had MoCD type A. The news was devastating, but the early knowledge offered the family hope — and an opportunity to intervene before significant brain injury had begun.

Watch his incredible story and see how the family is doing now.