Couple struggles with two sons' rare genetic disease

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Jill Clegg of Belle Vernon is not a fan of the phrase "wait and see."

In 2002, she and her husband, Brian, became parents of a boy they named Tyler. About five months later, the couple became concerned that Tyler often seemed ill and frequently cried loudly. Their son also had difficulty with eye and hand movements and exhibited other developmental concerns. The couple decided to seek help from neurological professionals.

Numerous tests were performed, but none of the specialists were able to diagnose the cause of his delays.

"We were told we would just have to wait and see what was wrong," said Ms. Clegg said. "But I'm not a wait-and-see person. If there is a problem, I want to fix it."

The Cleggs chose Amy Goldstein, a doctor at Children's Hospital of Pittsburgh of UPMC as their new pediatric neurologist. According to Ms. Clegg, Dr. Goldstein also preferred to seek solutions over a wait-and-see approach. But even with this commitment to find a solution, a diagnosis could not be confirmed.

In 2004, the Cleggs' second child, Noah, was born but has not exhibited developmental delays.

"Late in 2007, I learned I was pregnant with twins," Ms. Clegg said. "In 2008, 10 days after the passing of my father, Luke and Aiden were born.

"Although I was told I was just worrying, I knew immediately upon first seeing Luke that he had the same condition as Tyler."

Ms. Clegg's initial impression turned out to be correct, and Luke also began exhibiting developmental delays. His fraternal twin, Aiden, has continued to develop typically.

"Dr. Goldstein told us that Luke's birth meant the problem must be genetic," Ms. Clegg said. "That was helpful.

"In 2010, Brian and I learned of a study on undiagnosed diseases that was being conducted by the National Institutes of Health. Dr. Goldstein encouraged us to apply for the study and we were accepted."

The Cleggs spent a week that summer in Washington, D.C., participating in the study.

"We did every test under the sun," Ms. Clegg said. "Each member of our family provided DNA for the study, even grandparents.

In May of this year, the family was notified that a diagnosis had been made.

"We were told it is a gene defect which can cause intellectual delays," Ms. Clegg said. "It's called MED 23 and apparently affects white matter in the brain, stopping some brain electrical impulses going from point A to point B."

The Cleggs later learned that Tyler and Luke may be the only children in the United States affected by MED 23, according to Children's Neurobiological Solutions, a nonprofit organization that provides support to about 14 million children in the U.S. affected by neurological disorders. The organization classifies MED 23 as a rare disease and notes only one other documented case of the disease, in Algeria.

The symptoms of MED 23 identified by the organization include gastrointestinal complications in infancy; difficulty swallowing and eating; mobility limitations; and sensory delays.

For the Cleggs, discovering a diagnosis provides hope that their sons' medical issues can be addressed.

"This past August, our family was invited back to Washington, D.C., for follow-up testing," Ms. Clegg said.

"We got to meet the scientist who identified MED 23," she said. "He [said] the data from Tyler and Luke was giving him a Rosetta Stone for further genetic testing of their condition."

But as research into MED 23 continues, the Cleggs cope daily with its impact on Tyler's and Luke's lives.

"Many of Tyler and Luke's medical needs are covered by insurance," Ms. Clegg said. "But there are other medical needs that are not covered.

"For example, we need a new wheelchair-accessible van," she said. "We need to make our bathroom accessible, get a lift system for our home, and make other modifications."

To pay for these needs, the couple are covering what they can and trying to find additional resources.

"It's difficult," Ms. Clegg said. "I'm a nurse, and Brian is a driver for United Parcel Service. We work hard. But being parents of four children means significant financial obligations, so we deeply appreciate contributions for Tyler and Luke's medical issues."

A spaghetti dinner will be held Feb. 16 at Bentleyville Fire Hall. The cost and time are to be determined and will be announced on the boys' website,, when finalized.

Sharee Kalchthalder of Bentleyville, who is assisting with the fundraiser, said she first learned about Tyler and Luke on Facebook.

"Their situation has specific meaning to our own family," said Ms. Kalchthalder. "Our daughter, Hunter, also has a rare chromosome deficiency. As we understand it, only about 40 other persons have this deficiency.

"Hunter is now 17 and wanted to put together this project as her high school senior project. We're glad we can help."

The dinner also recognizes February as National Rare Disease Awareness Month.

The Cleggs' website provides opportunities for visitors to learn about the boys' medical history and to donate toward a medical need, such as securing funds for the accessible van and home accessibility renovations.

Addressing family finances, the special needs of Tyler and Luke, and providing their love and care to Noah and Aiden as well can cause considerable stress for the Cleggs. In response, the couple have organized a support group for families who face disability-related issues. The group meets monthly in Perryopolis.

According to Ms. Clegg, the Christmas season provides emotional support to their family.

"It's a season which all children love and is especially appealing to Tyler and Luke," she said.

"They participated in a Christmas event in Greensburg that included horse-and-carriage rides and a bonfire. ... They love watching the Christmas lights and the holiday music is so soothing to them."

Andrew Leheny, freelance writer:

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