Family speaking up about toddler’s rare disease in hopes of helping others
By Mindy Basara
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BALTIMORE (WBAL) — Carmen Akras seemed perfectly healthy when she was born in August 2022.
She progressed into a loving, beautiful and vivacious toddler; however, she suddenly stopped developing and began regressing.
Now, her family looks back on memories — like when Akras was 2 years old and playing with her baby brother, Albie.
“It’s Carmen kind of reaching out to Albert to give him something or help him, and that was who Carmen was, that was her spirit,” said Tom Akras, Carmen’s father.
The family began to notice developmental delays over the course of around a year. Carmen was eventually diagnosed with a rare pediatric neurodegenerative disease called metachromatic leukodystrophy.
“When babies are born, they appear normal — really in the first 3 to 6 months of life,” said Dr. Eric Mallack, a neurologist with Kennedy Krieger.
Mallack said patients begin to regress after around 6 months.
“It is a really sad thing to monitor because once patients become symptomatic, we can’t address the disease. We provide supportive care, but patients will degenerate and unfortunately succumb to the disease — more or less in slow motion — over the ensuing next couple of years. That’s so cruel. It’s extraordinarily cruel,” Mallack said. “Nobody can even fathom, I think, what it’s like to watch a kid die.”
Doctors told the Akras family they’ve never seen a patient live past the age of 10. It was hard for the family to process when Carmen received the diagnosis in the fall of 2024.
“She could still walk and talk and eat and play and laugh and do all those things,” said Annie Akras, Carmen’s mother. “We were like, how could there possibly be anything? And they said all of these abilities that she has are going to slowly go away.”
The Food and Drug Administration has approved a gene therapy to treat MLD, but you have to catch the disease early.
“Prior to getting sick, in that pre-symptomatic phase, we treat them with gene therapy, and they go on, they develop, they maintain function, they go to school. The longest-term data for the trial, it’s probably about 10 years out now, but it’s been very promising. It’s life changing. It’s lifesaving,” Mallack said.
MLD can be diagnosed at birth with a blood test. Mallack said federal guidelines changed in December 2025, and the MLD blood test is now recommended for newborns.
Per a Maryland mandate, it must be instituted in the state within 12 to 18 months, which was way too late for Carmen.
“Just the tragedy in all this is Carmen never had a shot,” Tom Akras said.
Now, the family is speaking out in the hopes that the state can implement the MLD newborn blood test sooner — perhaps saving another family from experiencing the devastating pain they’re going through.
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