Four-year-old Chelsea Hammel, of Queensland, Australia, can’t walk, talk or sleep soundly, as loud noises cause her to wake and have seizures.
Chelsea’s parents, Mel and Trent, have been living with these realities since their daughter’s early childhood, when Chelsea was diagnosed with a rare genetic disorder called Aicardi syndrome, news.com.au reported.
“She usually has her seizures around sleep time,” Mel Hammel told news.com.au. “Motorbikes or her brothers making noise can startle her and she’ll wake up having a seizure. She’ll also have them if she overheats.”
According to the National Institutes of Health (NIH), Aicardi syndrome occurs in about 1 in 105,000 to 167,000 newborns in the United States— and almost exclusively in girls. Researchers estimate there are about 4,000 individuals with the disorder worldwide.
Doctors have warned Mel and Trent Hammel that Chelsea may not live past her teenage years.
Mel Hammel knew something was wrong when Chelsea, her first child and only daughter, began twitching when she was 2 months old. When she took her to the doctor, she learned these were infantile spasms— one of the three main symptoms of Aicardi syndrome, according to the NIH.
Doctors also observed that Chelsea’s brain wasn’t growing as it should, and they diagnosed her with cortical dysplasia and epilepsy.
Mel Hammel stayed with her daughter in the hospital for six weeks— through her newborn’s first Christmas and New Year’s Day.
“I left just once, on Christmas Eve, for a family dinner,” she told news.com.au. “I started bawling my eyes out, saying, ‘She should be here.’”
About a month before her first birthday, Chelsea was diagnosed with cerebral palsy and Aicardi syndrome.
Today, she uses a wheelchair and a walking frame. A nighttime monitor helps alert her parents if she’s having a seizure, after which they put medicine in her cheek and help her fall asleep.
To talk, Chelsea uses an “eye gaze” machine that lets her communicate without speech. She can eat some foods with her hands.
Doctors say the little girl will never talk but that she may walk one day.
Although caring for Chelsea hasn’t been cheap— her special equipment, medication and diapers cost the family AU$30,000 (about $24,909) out-of-pocket for one year— the Hammels haven’t lost hope.
Mel Hammel is helping renovate the special education unit at her daughter’s kindergarten, and she has begun campaigning for help to rebuild the family a home that’s safe for Chelsea. The Hammels’ wish is that the new living space would enable Chelsea to be included in family activities.
“She’s like a nine-month-old,” Mel Hammel said. “She’s getting stronger. It’s a slow process, but at least she’s not regressing. You have to be positive.”
According to the NIH, the three main features in patients with Aicardi syndrome are absent or underdeveloped tissue connecting the left and right halves of the brain, seizures that are difficult to treat, and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye.
The cause of Aicardi syndrome is unknown.