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Moms of children with rare brain disorder push for wider newborn screening

Anna Gorman, Kaiser Health News on

Published in Parenting News

The common treatment, a bone marrow transplant, is risky and complicated, but it is often successful if the donor is a good match and the procedure is performed before the children have visible symptoms, UCLA neurologist Raman Sankar said. Doctors are also having some success with gene therapy, in which the children undergo a transplant with their own stem cells rather than a donor's, Sankar said.

The earlier the transplant, the better a child's chance of survival, he said. "The delay may make the difference between whether he can have a lifesaving treatment or not."

Before newborn screening, boys in the early stages of ALD frequently were incorrectly diagnosed with hyperactivity and other conditions, said Richard Olney, who heads the genetic disease screening program for the California public health department. "Many families had to go through a sort of diagnostic odyssey," he said. "It only became clear as they developed progressively worse problems that they had a serious genetic condition."

By the time a brain MRI was performed, there was often too much damage to save the child. That's part of the challenge for clinicians who may not be familiar with ALD: "How do you know when this is a critical brain disease versus just a normal part of development?" Eichler said.

Those with the genetic mutation who do not develop the disease in childhood may still have a milder form as adults. People with the mutation also need to be monitored by an endocrinologist, because many will suffer from a condition in which their adrenal glands fail to produce enough of a stress hormone that is needed to fight infections.

Gina Cousineau's 8-year-old son, Evan, was diagnosed with ALD in May 2007 after he came home from swim practice and had a seizure. Though he underwent a bone marrow transplant, Evan died from a secondary infection before he turned 9.

Cousineau lives in the southern Orange County city of San Clemente and helped lobby for the California law that requires ALD screening. She said newborn testing benefits infants with ALD and can help families discover that siblings or other relatives have the gene mutation.

"Thank God this newborn screening came into effect," Cousineau said. "Knowledge is power. Had I had the knowledge with my son, Evan, he would be alive today."

De Nies said she worries about Gregory's future, but she's confident her son will live a long life. And she credits Cousineau and other mothers whose sons didn't have the same chance.

"Without them, we would never know about the gene mutation," she said. "I just feel like they are our fairy godmothers."

(Kaiser Health News (KHN) is a national health policy news service. It is an editorially independent program of the Henry J. Kaiser Family Foundation. KHN's coverage in California is funded in part by Blue Shield of California Foundation and coverage of children's health care issues is supported in part by a grant from The Heising-Simons Foundation.)

(c)2017 Kaiser Health News

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