Teenage girl battles rare condition that causes her to live like a toddler – affecting a minuscule 70 people worldwide
A teenage girl is battling a rare condition that causes her to live like a toddler that affects a minuscule 70 people worldwide.
Kelly Breden, 14, of Robbinsville, New Jersey, USA, was the 14th child to be diagnosed with PACS1-related Syndrome, a gene mutation that has left her non-verbal, in diapers and unable to dress herself.
She is intellectually disabled requiring her to attend a school for special needs children and also struggles with eating, walking, spelling and reading.
Due to her inability to speak, Kelly uses an iPad to communicate with her family, teachers, and classmates.
As part of the condition, Kelly suffers from scoliosis and autism, which causes her to have tantrums when she is overwhelmed or hears loud noises.
PACS1 has also caused growth delays for Kelly, causing her to appear much younger than her fraternal twin Sabrina.
Her mother Elizabeth Breden, who is her caregiver, said: “She is 14 years old, but she has the abilities of a two-year-old.
“She is like a toddler, so I always have to care for her and protect her. She can’t get dressed by herself and she can’t brush her own teeth.
“She’ll start eating, but then she’ll get distracted and stop.
“She can physically walk around by herself, but she doesn’t understand how certain things work. We have a gate that blocks her entry to the kitchen because she would try to touch the hot stove.
“When she gets frustrated about something, she starts hitting and punching herself. 10
“Kelly definitely looks a lot younger than Sabrina. She still has that baby look and she’s about seven inches shorter.
“People don’t even realize that they’re twins. They just think that I have a younger daughter who is handicapped.”
At the Mercer County Special Services School District, Kelly receives Physical Therapy, Occupational Therapy and Music Therapy.
She also has a full-time aid named Pam who will continue assisting her when she moves on to the district’s high school next year.
In addition, to a Behavioral Therapist who visits six days a week and working with Kelly for two hours each day.
Mum Elizabeth says that due to her daughter’s short attention span, she often has difficulty joining in with her classmates.
She added: “She has so many needs, that a public school would not be able to take care of her.
“Kelly doesn’t really play with the other kids, but rather plays next to them. She’ll get bored of something after a few minutes and then move onto the next thing.
“Pam knows Kelly, knows her quirks, and makes it so much easier for her. Come June, everything is going to change for Kelly except for her one-on-one aid.
“Although Kelly’s behavioral problems do tend to come back from time to time, the Behavioral Therapist helps her a lot.”
Despite her disabilities, Kelly rides an adaptive bike, has competed in the Special Olympics and goes horseback riding every weekend.
But while on the bike or horse, she always needs special guidance.
Elizabeth said: “She is able to ride the bike and understands not to go near a moving car.
“We bring her horseback riding, but she doesn’t completely understand how to ride the horse.”
Despite twin sister Sabrina attending a different school to her sister, she tries to help her as much as possible.
This includes helping her go to bed at night, reading to her and changing the channel on the TV for her.
Sabrina also rides her bike next to Kelly while she is on her adaptive bike to keep her safe and helps feed her snacks and drinks when the family is on long car rides.
Elizabeth said: “She loves her sister, so she tries to help whenever possible, but she’s only 14 so there’s a lot of things she’s not able to help her with.
“I don’t want Sabrina to do too much because she still needs to be a kid.”
Although the condition is so rare, the “PACS1” Facebook Group has connected Kelly’s family with families of other sufferers around the world.
Through this group, Elizabeth feels that she has learned more from the patients than the doctors.
Elizabeth said: “It’s amazing how much we’ve learned over the years, despite it being so difficult to find the right doctors for Kelly’s whole life.
“The PACS1 sufferers look like they could all be blood relatives. They have the same nose, downward slanting eyes, wide mouths and low-set ears.”
Elizabeth and her family are preparing to move into a smaller house in the near future and will spend the rest of their lives taking care of Kelly.
She said: “She’s not going to be able to hold down a job when she’s older.
“I always say that I need to live one second longer than she does. That’s why I’m always going to the doctor and staying healthy.
“I need to be here until I’m 120, so that she doesn’t have to live without me.”
Taruna Reddy, director of the PACS1 Foundation, says the only way to find the mutation is through exome sequencing.
She said: “It’s a change in a single spot of the gene, so it’s not something you can find unless you’re looking for it.
“Every kid with PACS1-related syndrome has the same exact genetic mutation.
“There’s a wide spectrum, but all of the kids have a mild to moderate degree of intellectual disabilities.
“Unless we find a cure, these children are going to require lifelong care.”
Taruna explained that the most complicated part of the condition is that the mutation is relatively unheard of.
She said: “Nobody understands what the mutation is doing, so our research is based on finding that out.
“There’s just not that many patients out there for support. It’s been getting better, but it’s still so difficult.”
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