Woman born with lissencephaly beats the odds
CENTER TWP — Every birthday is more special than the last for Amber McCreary, but it wasn’t always that way.
After turning 29 years old on Christmas Day, McCreary is just one birthday away from being among the oldest people in the U.S. diagnosed with lissencephaly, a spectrum of severe and rare brain malformations that affects developing fetuses.
When McCreary was first diagnosed at 2 years old, doctors said she probably wouldn’t live past 8 years old. While approaching the 30-year milestone is scary for McCreary’s mom, Beverly Carr, she said her daughter keeps managing to beat the odds, with a recent example being her one-year anniversary of being hospital-free on Dec. 23.
“I hated when her birthdays came around, because she was one year older to 8,” Carr said. “The longest living person in the U.S. with lissencephaly is 30 years old. We are going to plan a big shebang next year.”
Carr takes care of McCreary at their home in Center Township, where McCreary has a bedroom on the first floor, giving easy access for her wheelchair.
According to Carr, McCreary was started experiencing seizures when she was 2 years old. She would need special treatment from then on, and eventually lost her ability to walk on her own. She lost the ability to speak when she was around 12 years old.
McCreary still suffers regular seizures, although they are less affecting as they used to be, and Carr said she is now like a baby trapped in a woman’s body.
“How it was explained to me is that she has had so many seizures in her lifetime it has burned out the electrical part of her brain. The downside is she has severe brain damage,” Carr said. “I have had numerous times where she has had epileptic status and they had to put her in a medically induced coma to break it.”
In lissencephaly, the lack of normal development of brain gyri and sulci makes an affected baby’s brain appear smooth. Children with lissencephaly often have significant developmental delays and mental disabilities, but these vary from child to child depending on the severity of the condition, according to the Cleveland Clinic.
Leigh Marzullo, an LPN with Continuum Pediatric Nursing, has worked with McCreary for 12 years, and takes care of her in the evenings after McCreary comes home from a day program at Austin’s Place in Jefferson Township. Carr said she previously employed two nurses, but one who also worked with McCreary for 12 years recently moved.
Outside of the home, McCreary had been treated at UPMC Children’s Hospital for years, but aged out of that program when she turned 26, according to Carr. Now, she is treated at UPMC Presbyterian, but Carr said she is not sure how the health care facility will do treating an adult with lissencephaly.
“Unfortunately they have never treated anybody with lissencephaly, because they don't live that long, so I feel like we’re learning again,” Carr said.
Carr gets McCreary out of bed, gets her dressed and feeds her every day, with the help of Marzullo. Carr said that while many patients with lissencephaly eat through feeding tubes, chewing soft foods is one thing her daughter can still do, and she still “loves eating.”
“She still eats by mouth, so we do feed her a soft diet,” she said. “Which is very rare, a lot of (lissencephaly patients), they don’t eat by mouth.”
McCreary had a seizure Monday evening, Dec. 23, before eating, which Marzullo helped comfort her through, and said it was a regular occurrence. McCreary is the only lissencephaly patient Marzullo has ever worked with, but she has enjoyed her work with McCreary since the beginning.
“She took my heart,” Marzullo said. “She’s like one of my own kids.”
After being a lissencephaly parent for more than 25 years, Carr has learned more about the disease and its treatment and research, in large part thanks to the development of Facebook groups and search engines like Google. She said she has been in online support groups with other parents of lissencephaly patients, but many of those patients have died over the years.
Through her research, Carr has learned several symptoms of lissencephaly can eventually kill a person.
“A lot of them end up with traches (a tracheotomy) — they cannot eat by mouth,” Carr said. “They end up with multiple pneumonias, obviously the seizures can take them.”
Carr said lissencephaly can be caused by genetics, but the cause is not fully understood.
Carr said McCreary was diagnosed with lissencephaly around the time she had a newborn baby. Carr has four other children — three sons and a daughter, who also has seizures but does not have lissencephaly.
Carr said while McCreary is nonverbal, she still seems to be aware of her surroundings. Marzullo agreed. McCreary can react to people with her, from swatting at her mom to making noises at her siblings and young nephew.
“I feel like she knows who I am. She knows who her siblings are, the ones who are around all the time,” Carr said. “She has a nephew who just turned a year old, and she does not swat at him. She knows he's a baby and she knows she can’t hit him. She loves him.”
Despite the challenges that have come along with raising and caring for McCreary, Carr said her life and the rest of her family’s lives have been enhanced by McCreary’s presence and resilience. She said it is appropriate that McCreary was born on Christmas, and celebrates becoming another year older every Dec. 25.
“A true angel was born that day,” Carr said.
