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A Rare Genetics Diagnosis Brings Relief

A Rare Genetics Diagnosis Brings Relief

A Diagnosis for Noah and Aiden

Maura Vallette and her husband, Richard, knew very soon after Noah was born that something was not quite right with their son. "He was not breathing on his own; he was floppy," recalls Maura. "Things kept coming up, like choroid cysts, seizures, developmental delays. We knew there had to be a catalyst, something that was triggering all of these conditions."

In 2002, when Noah was almost two years old, the Vallettes decided to take a vacation. "We live in Florida, says Maura, "but we headed to New Hampshire because we knew that Dr. Filiano was at Dartmouth-Hitchcock and that he was a world renowned neurologist." It was James J. Filiano, MD, who suspected Noah's issue could be genetic and referred the Vallettes to John B. Moeschler, MD, MS, in the section of Medical Genetics at the Children's Hospital at Dartmouth-Hitchcock.

Although tests were run to determine Noah's condition, they came back negative for known genetic disorders. "But Dr. Moeschler and Jillian Ozmore, our genetics counselor, explained that even if we couldn't get answers that particular day, if we kept at it that eventually we would understand what it meant to be Noah. Every year we continued submitting Noah's blood for testing."

Frank and Leanne Beauregard's first child, Aiden, was born in 2007 at St. Joseph Hospital in Nashua. "Aiden's legs would twitch off and on," remembers Frank. He also had a dislocated hip, was jaundiced, and in utero had little heart tumors. "Never mind the thought of being new parents, now we're dealing with medical issues. They did tests and they all came back negative; it gave us false hope. We assumed that everything was okay. Instead they sent us to DHMC in Lebanon." Aiden was 5-days-old.

After a neurological exam the Beauregards were also referred to Dr. Moeschler for genetic testing.

Eventually, both Noah and Aiden would be diagnosed with a rare condition known as 17q21.31 microdeletion syndrome. Occurring in 1 in 16,000 births, 17q21.31 microdeletion syndrome explains Moeschler, "is a genomic disorder where a small amount of genetic material is missing from one of the two 17 chromosomes." It is not hereditary. It is what Moeschler calls a "new event."

For the Vallettes, Noah's diagnosis had taken years; for the Beauregards, Aiden's condition was known in weeks.

See the Beauregards and Dr. Moeschler talk about their experience

Medical Genetics

Medical Genetics, explains Moeschler, director of the Clinical Genetics Program at Dartmouth-Hitchcock, "provides health care to individuals who have genetic disorders." Children and adults are often referred to Medical Genetics due to developmental delays or disabilities. Knowing a specific diagnosis can assist with medical management, treatment options, and educational planning. As part of the evaluation specialized genetic testing is often ordered.

"When Noah first came to see us," says Ozmore, "the available genetic testing didn't detect 17q21.31 deletions because the disorder wasn't identified until 2006. When Aiden was tested in 2007, he was one of the first cases diagnosed in the region."

Looking for Answers

Leanne Beauregard recalls that when she heard the diagnosis: "We didn't know what to do, or even what questions to ask."

"As parents," Frank Beauregard says, "we wanted answers; we wanted to know 'what does this mean for our child?'" The difficulty was that very little information was available on a condition medically identified only the year before.

Conversely, after eight years, the Vallettes felt they finally did have answers. "It was like the weight of the world was lifted off my shoulders, because I knew Noah was meant to be this way," Maura Vallette recalls. "It wasn't something I did; it wasn't an accident. It was exciting and a relief to better understand what's going on with him."

Only now is this disorder being more fully researched and clarified. At the suggestion of Moeschler, both families agreed to take part in the first international study of 17q21.31 microdeletion syndrome led by researchers from the Netherlands. "The study asked the question: What are the aspects of this disorder? The purpose is to help patients and families. The more we know the more we're able to counsel them about what to expect and to improve treatment."

In school, Maura says, they call Noah 'The Mayor' because "he's exceptional social, and warm." The diagnosis, she says, has helped her family to understand that "it's not just about us and Noah, but it's about the future and what we're learning about DNA"

"Aiden," Leanne Beauregard says, "is an amazing child, and everyone at the genetics clinic has been great with him. They are constantly doing research on the syndrome and if they get any new information they make sure we get it."

"Here at CHaD, we provide our patients with access to the world," says Moeschler, "because with the D-H intellectual community and our colleagues globally, not only do we offer genetic health care services, but on a global-scale we participate in the advancement of knowledge regarding rare genetic disorders. This better helps us to do our job, which is to answer our patients' and families' questions."

About the Medical Genetics Department

The Medical Genetics Department at Dartmouth-Hitchcock provides diagnostic evaluations, clinical management and genetic counseling for both children and adults who have a genetic condition or who are suspected to have a genetic condition. The genetics team includes Board Certified Medical Geneticists and Board Certified Genetic Counselors. Appointments are available in Lebanon, Bedford, Dover and Nashua.

For more information please visit our website or contact our office at 603-629-8355.