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She has a rare genetic disorder. A pool with a lift is the one thing that can help her


She has a rare genetic disorder. A pool with a lift is the one thing that can help her

By Alexandra Howard FIU Lee Caplin School of Journalism & Media

Alexa Mitchell was diagnosed with pervasive developmental disorder -- characterized by delays in the development of social and communication skills and now known as autism spectrum disorder -- not long after her first birthday.

That was only the beginning. As she grew older, she experienced seizures, stomach ulcers and acid reflux that no blood test or therapy could explain. She was nonverbal, so even as she grew older, she was unable to communicate easily about what was happening.

Her mother, Toni Mitchell, knew deep down that something else was wrong. She wanted a diagnosis to help her make sense of her daughter's struggles. Until then, she decided to call it "Alexa Syndrome."

As the years passed, her daughter received physical and speech therapy and attended a preschool for children with autism. She saw a long list of geneticists and neurologists.

Mitchell finally got an answer in November 2014, when Alexa was 13. A geneticist diagnosed Phelan-McDermid syndrome, a rare genetic disorder caused by a missing or structural change of chromosome 22.

Alexa is one of only 2,500 estimated cases worldwide. There is no cure, but treatment can help alleviate symptoms.

"[The doctor] told me it was like looking for a mistake in a novel," Mitchell said.

It has not been an easy journey since Alexa's diagnosis. Because the disease is uncommon, Mitchell had no clue how to move forward. Making things worse, Alexa's seizures were spiraling out of control.

Alexa was suffering from "extreme drop seizures," which caused her to fall to the floor. At times, she needed to be rushed to the emergency room to treat broken bones and scalp lacerations.

Two years ago, Alexa underwent a corpus callosotomy, a surgery to prevent seizures from spreading from one side of the brain to the other. But then her strength was gone and she suffered from aspiration pneumonia. It was a week before she could be discharged from the intensive care unit.

There was one place where Alexa's mobility skills seemed to improve -- the family swimming pool in Coral Springs.

"After she came home, she pretty much had to learn to do everything all over again," Mitchell said. "At our house, we have a swimming pool, an in-ground pool, that we were able to get her into. She learned to walk again. We kind of got her back to where she was before the surgery."

In December 2023, Mitchell moved her daughter to a group home in Miramar, where Marie "Michelle" Delva cares for her. Among her duties, Delva gives Alexa medications for her accelerated heart rate, acid reflux, constipation and seizures.

Delva calls Alexa her "mystery box." There are moments where she is in the kitchen and Alexa hums to let her know her show finished in the living room. Other times, Alexa faintly smiles when someone tries to make her laugh. Delva says she's pleasantly surprised every time she sees Alexa's personality shine.

Alexa, who is now 23, has scoliosis, a sideways curvature of the spine, and it has become difficult to bear weight on her legs. She needs to use a wheelchair. She receives nourishment through a feeding tube. She is still nonverbal, but it is clear that being in the pool makes her happy as well as provides physical therapy.

The group home has a swimming pool, but Alexa's conditions make it difficult to get her in and out of the water. Mitchell hopes the Wish Book program can help get Alexa an Aqua Creek Scout Excel pool lift so she can enjoy the pool safely.

"Since she's been here [in the group home], and she still has some seizures, her function has declined again," Mitchell said. "They can't get her in the pool. I can barely get her in my car because it's too hard."

The group home's administrator from Family Life Care Services, Derick Toro, and Delva said the water can help Alexa move her muscles and take steps by herself again.

"My dream for her is to be able to get therapy in the pool," Delva said. "We want her to move her legs and to bear weight. Picking her up from the chair to the bed, or from the bed to wheelchair, or into the car -- therapy in the pool would help her bear weight."

Mitchell added, "Besides the physical aspect of being in the pool, she can improve her transfers and go back to walking. But I think giving her joy, which is being in the pool, would be greatly beneficial."

Jeannie DeMarzo, founder and president of the Danielle DeMarzo Foundation, which helps children with special needs and growth- related disorders, nominated Mitchell for the Wish Book program to receive holiday help.

"One family can't do this on their own, but everybody can do a little something," said DeMarzo. "[The pool lift] will help her become mobilized again and be able to get rejuvenated in some ways."

HOW TO HELP

▪ To help this Wish Book nominee and more than 100 others who are in need this year:

▪ To donate, use the coupon found in the newspaper or pay securely online through www.MiamiHerald.com/wishbook

▪ For more information, call 305-376-2906 or email Wishbook@MiamiHerald.com

▪ The most requested items are often laptops and tablets for school, furniture, and accessible vans

▪ Read all Wish Book stories on www.MiamiHerald.com/wishbook

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