Friday, June 23, 2023
Imagine being forced to flee the country you call home due to a violent war and then entering a new one where everything is different – the food, the language, the people. That was reality for the Alkadri-Mahfoud family, who moved to the U.S. as Syrian refugees in 2017, and currently live in Bloomfield Hills.
And if learning to live in a new world wasn’t difficult enough, the family also faced another obstacle. In 2019, Ghada Mahfoud gave birth to her son, Jad Alkadri, who began having seizures at just 1 month old.
“When I first saw Jad, he was in the ICU with continuous seizures,” said Dr. Danielle Nolan, a pediatric epileptologist at Corewell Health’s Beaumont Hospital, Royal Oak. “We treated him with many different medications, and the seizures were hard to control.”
The saving grace: family history
Through the help of a translator, Dr. Nolan eventually learned an important piece of family history: Jad’s mother shared that she gave birth to two other boys while in Syria – one in 2001 and another in 2011. Both began having seizures at similar ages as Jad, and both died – one at 9 months and the other at 4 months.
“Seizures can run in the family, so the fact that he had siblings who had seizures wasn’t necessarily the biggest red flag,” Dr. Nolan said. “But it was the fact that her other sons had the exact same presentation, and that they had both died so young.”
With a sense of urgency, Dr. Nolan pushed for Jad to receive neurogenetic testing, something that wasn’t routinely done at that time.
“Most genetic testing is done in an outpatient setting because the results used to take so long, and it often doesn’t immediately change the way we treat the patient,” Dr. Nolan added. “But I said: ‘He had two siblings that died from this. We need this information now,’ and we acted fast.”
The results showed that Jad has Biotin-thiamine responsive basal ganglia disease or biotin-thiamine responsive encephalopathy type 2 (BTRBGD, MIM606152), a rare genetic disorder, which leads to seizures.
“Once I got the results, I was able to look into the literature, and there were actually two cases of children with this genetic condition who had been treated with supplements of biotin and thiamine,” Dr. Nolan said. “Based off that, I started him on those supplements. That’s what changed his course and, honestly, saved his life.”
A change in fate
Fast forward to today: Jad is 4 years old and seizure-free.
“He does have cerebral palsy, most likely related to the initial difficulty of controlling his seizures, but he hasn’t lost any skills and is making really good progress,” Dr. Nolan said. “He walks with a walker, and while he isn’t very verbal, he is very communicative otherwise. He’s starting to use a word board, working on speaking and using sign language. He’s such a happy, little boy. He’s just a joy.”
Jad’s family is so appreciative of the care he has received. They relish watching every new thing he learns or does.
“We thank God that Jad survived,” his mom, Ghada Mahfoud, said. “I can’t believe my Jad has grown before my eyes. I didn’t know why my boys kept dying. I didn’t understand it. I’m so pleased they figured it out for Jad, and they are controlling the seizures.”
Jad’s older sister, Juman Alkadri, 21, added, “Back home in Syria, we didn’t have a good medical team, and they didn’t know how to diagnose my other brothers. We are so grateful to Dr. Nolan and her team for what they did for Jad and our family.”
Pediatric Neurogenetic Testing Clinic
The Pediatric Neurogenetic Testing Clinic provides an evaluation for children and young adults that have a
neurological disorder with a suspected genetic component.