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One day, Hudson Wingate was a healthy 13-month-old headed for fun at daycare. The next day, he was headed for admission to Rady Children’s Hospital with vocal cords so swollen, he could hardly breathe.
I just think so much about his future.
I know it’s bright, he’s inspiring others, he’s strong, he’s tough, and he doesn’t let anything hold him back.
— Susan Wingate, mom
Hudson Wingate was a healthy baby for the first 13 months of his life. He hit all his major milestones.
When Hudson was 13 months old, he suddenly started having difficulty breathing. He was rushed to Rady Children’s Hospital-San Diego.
The medical team’s best assessment, based on the information they had at the time, was that Hudson had Myasthenia Gravis (MG), a disorder that affects certain muscles of the body, especially those that control the eyes, mouth, throat and limbs. However, the standard treatment for MG wasn’t helping. Hudson was on and off a ventilator and had to be resuscitated numerous times. Rather than seeing an improvement, he declines and loses weight. He loses his ability to breathe on his own, swallow, walk, talk, and pull himself up.
Hudson’s mom Susie learned Rady Children’s had a Genomic Institute with genome sequencing technology to diagnose rare diseases. The family requested the ultra-rapid Whole Genome Sequencing (urWGS) test, and, 48 hours after caregivers drew their blood for sequencing, they had a diagnosis: a rare life-threatening, neurodegenerative genetic disorder called Riboflavin Transporter Deficiency (RTD).
This is the quickest case of an RTD diagnosis that has been documented to date. Shortening the diagnostic odyssey can make a significant difference for patients with a degenerative disease like RTD, since progressive decline from untreated RTD can eventually result in death.
The treatment for RTD: a simple blend of nutritional supplements, available over the counter at any drugstore.
Despite the challenges, Hudson is thriving. He is in a preschool program for children who are hard of hearing. “He loves it so much,” says Susie. “He’s Mr. Social.” A huge fan of animals, music, playing outside and pretend cooking, Hudson excels at gross motor skills like riding his scooter and running. “He has great balance,” Susie says. “It’s a thrill to see him running around now after we thought he might not ever be able to walk.”
© 2024 Rady Children's Institute for Genomic Medicine.
