These two local families have a very rare connection, and it has tested them both greatly

Anne Christian, Intervention Specialist, works with Bridgeport Elementary School student Riley Baker, who has autism and a rare chromosomal birth issue which has caused severe communication problems, communicates through a special machine and app with her teachers and parents. GREG LYNCH / STAFF

Anne Christian, Intervention Specialist, works with Bridgeport Elementary School student Riley Baker, who has autism and a rare chromosomal birth issue which has caused severe communication problems, communicates through a special machine and app with her teachers and parents. GREG LYNCH / STAFF

Rare Disease Day takes place on the last day of February each year. The main objective is to raise awareness with the general public and decision-makers about rare diseases and their impact on patients’ lives.

For Jennifer Kelly of Mason, and Jill Baker of Hamilton, the special day is just one of 365 for them with a child with the rare genetic disorder Dup15q Syndrome, as they work to bring awareness about its impact.

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Baker said her daughter Riley, who is now, 11, was very young when she was diagnosed with the disease.

“When Riley was 6 months old, she was diagnosed with a very rare type of seizure, Infantile Spasms, and this led to genetic testing which revealed the idic15 (one cause of a chromosome disorder she has),” Baker said. “A few years later, she was also diagnosed with Autism, which is not uncommon in children with dup15q (another factor with the chromosome affliction.”

Baker is a physical therapist with the Hamilton School District, and Riley has been doing well in the school district, but the challenges facing the family, husband Richie and 22-year-old son, Jared, have been daunting.

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Caitlin Kelly was diagnosed at 7 months old with with Dup15q Syndrome.

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For Kelly, a stay-at-home mom, her daughter Caitlin was diagnosed at 7 months old. The revelation was a double dose of pain for her and her husband Steve, who had just lost a daughter, Cecelia, who was stillborn.

“There was just so much of me that was gone with the loss of my daughter and then to receive the diagnosis,” Kelly said, as her voice trailed off, while her 3-year-old son Patrick played alongside her. “I was really helped by Atrium Medical Center’s HEAL program which helps families deal with the death of a child.”

Kelly noted that there are only 1,300 kids that have been diagnosed with Dup15q Syndrome in the world and that when she noticed the spasms and “floppy baby” symptoms Caitlin was going through she took action.

Kelly and Baker connected online and their meeting on Tuesday was the first time they have met face-to-face. Both of them will be traveling with 28 other mothers in July to Florida for a trip to discuss the disease and what impact it has had on their families.

“It will be good to share everything and to laugh or cry,” Kelly said. “It is good that we get to go together.”

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