Exactly 30 years after Teryn Suhr’s 5-year-old daughter, Darcee, died of a rare genetic condition, she traveled to Washington, D.C., to celebrate a move that will help prevent other families from experiencing such tragedy.
U.S. Health Secretary Robert F. Kennedy Jr. signed a mandate Tuesday adding metachromatic leukodystrophy (MLD) and Duchenne muscular dystrophy to the Recommended Uniform Screening Panel, a list of conditions for which the federal government suggests that babies be tested at birth.
“Without a doubt, these early screenings will prevent a severe disability or death for hundreds of children annually,” said Kennedy. “Early detection will also give families a better chance to avoid the long delays, repeated specialist visits and financial and emotional strain that often define years long diagnostic search for rare diseases.”
Maryland is one of more than a dozen states that has passed legislation requiring hospitals to test newborns for all of the conditions on the federal list. The law requires Maryland to implement testing for newly approved conditions within 18 months.
Both MLD and Duchenne’s can be treated with recently developed gene therapies, but both must be caught early for the treatments to be effective.
MLD, a progressive condition that destroys the nervous system, affects about 1 in 40,000 children born in this country, although it occurs more frequently in those of Navajo descent.
Carmen Akras, 3, of Hampden, was diagnosed with the disease a little over a year ago. Her parents, Tom and Annie Akras, have been advocating for Maryland to begin screening for the condition.
The Akrases said that they were grateful that MLD had been added to the federal testing guidelines, but hoped that Maryland would implement the screening expeditiously.
“We want Maryland Leaders to be aware that the 18 month delay may cause other children and families to suffer from MLD, even though there is a treatment, simply because they lack critical information,” Annie Akras wrote in a text message.
Susan Sullivan of Frederick, whose son, Daniel, died of MLD in 2018, attended Tuesday’s announcement.
“I try not to think too much of what could have been,” said Sullivan. “But I’m happy to know that children now and in the future will not have to undergo the devastating disease that he did.”
Children usually begin showing symptoms of MLD around age 2 or 3. Eventually the disorder robs them of the ability to speak, move and even breathe. The Food and Drug Administration approved a gene therapy, Lenmeldy, last year that helps stave off the symptoms of MLD, although it is costs $4.25 million and requires a lengthy and arduous treatment.
Duchenne muscular dystrophy is a more common genetic disorder, affecting 1 in 5,000 babies. A progressive neuromuscular disorder linked to a gene on the X chromosome, Duchenne primarily affects boys. In the past, children with the condition did not usually survive past their teens, but a bevy of treatments, including a gene therapy approved in 2023, have significantly expanded the lifespan.
Suhr, the founder and executive director of the MLD Foundation, said she was hopeful that Tuesday’s move would lead to increased early detection of the genetic conditions.
“Thirty years ago to the day, I sat in the hospital room with Darcee in my arms,” said Suhr, her eyes welling with tears. She carried with her a faded photograph of Darcee wearing a frilly blue pinafore and white Mary Janes.
The briefing room at the Health and Human Services headquarters was full of children whose lives were a testament to the transformative power of gene therapy.
John Wright, 13, and Andrew Wright, 10, of Calvert County, attended the announcement with their mother, Amy Wright. Both boys were diagnosed with MLD in 2018. Andrew was able to receive gene therapy in Italy as a baby. The fifth grader has no symptoms and enjoys playing soccer.
John did not qualify for the gene therapy, but was able to receive a bone marrow transplant that staved off the most severe symptoms, his mother said. Now in seventh grade, he plays basketball.
Afterwards, outside the Hubert H. Humphrey building where the announcement occurred, two girls hopped up and down the cement stairs. They looked like any other children, but their lives exemplify the power of gene therapy.
Celia Grace Hamlett of Alabama was the first person to be treated with Lenmeldy. Doctors discovered that Celia Grace had MLD just before her third birthday after she had a gall bladder problem, said her mother, Kassie Hamlett.
“She’s a happy, healthy 8-year-old thanks to gene therapy,” said Hamlett.
Celia Grace’s playmate, Keira Riley, 5, has also received gene therapy for MLD. Keira’s parents, David and Kendra Riley, of Phoenix, Arizona, had Keira tested after her sister, Livie, was diagnosed with MLD in 2020.
The family used crowdfunding to raise $500,000 to take Keira to Italy for the treatment as an infant.
“She was the 32nd kid in the world to get the treatment,” said Kendra Riley.
Keira, a kindergarten student, takes gymnastics lessons, competes with a swim team, runs and keeps up with her oldest sister, Eva, 10, her mother said.
But the family’s joy is tinged with sadness. Livie, now 7, is receiving hospice care and was unable to join her family on the trip.
“I’m ecstatic that we’re changing the world for other families,” said Riley. “But we always think of what Livie would be like if she could walk and talk and do all the things that they can do.”
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