Local Girl Struggles to Deal with Genetic Disorder

Local Girl Struggles to Deal with Genetic Disorder

Mom finally gets correct diagnosis.

PHILIPSBURG - Imagine having a six-year-old  who's still learning to climb stairs, cant' dress herself,  and still  wears a diaper. That's a regular day for a  local mother whose little girl was born with a genetic disorder. Unlike  Down Syndrome, which involves an extra chromosome,  microdeletion syndrome involves small missing parts of  a chromosome.

Selean English is working with a physical therapist to increase her low muscle tone. The six-year-old was born with  microdeletion 15q13.3, a small piece of chromosome 15 is deleted in each cell. Her mother Sharon Moore says Selean didn't hold up her head, roll over, or sit up  when most babies do.

"We were told she was autistic at the age of 18 months," Sharon says. "I told them I didn't believe them and I'm glad as a mother, my gut instinct was right."
 
She finally got doctors to do genetic testing on her daughter, and results showed the microdeletion. Descriptions of the syndrome by the National Institutes of Health fit Selean's behavior.

Her mother says the little girl is mentally a toddler, can't speak much, can't dress herself, and is still not potty trained. Sharon says, "sometimes she'll catch on, sometimes she regresses, but you still have to keep going, you still have to keep pushing her."

A microdeletion like Selean's, or a microduplication, where genes have an extra piece of chromosome, have only been revealed in the past decade or so by new technology.

Dr. Christa Martin, Director, Geisinger Autism and Developmental Medicine Institute says, "these microdeletions and microduplications were there. It's just that we never had a way to diagnose them or see them. Patients had issues. The patients didn't have answers for why they had those issues."

According to Dr. Martin, children with these chromosome abnormalities often experience similar developmental problems and  physical and psychiatric illnesses. Now,  what researchers learn from individual genetic testing can lead to treatment of some of  the conditions.

"We're now estimating that we could diagnose 40%  to 50% of these children who have unexplained developmental disorders," she says, adding that this can happen only if more children undergo genetic testing.

As Sharon sees it, "they don't know exactly a lot about it yet, so they're still learning along with my daughter." She's trying to help Selean make the most of her life.
 

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