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Haylee used to love doughnuts.
“Her favorite was glazed doughnuts,” says her mom, Clarissa Joyce. “She loved them. I’d bring them home from work.”
At first, the little girl would eat them on her own. Later, it got to the point that Mom or Dad would have to tear one up for her.
After a while, they’d have to feed it to her.
Now, there are no more doughnuts for Haylee, a 2 1/2 year-old with curly red hair. She is suffering from a genetic, neurological disease that’s slowly taking away one life function after another and will cut her life short.
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About 150 children in America suffer from infantile Batten disease. It attacks the brain and progressively shuts down parts that control walking and talking and all the other things most toddlers are learning how to do.
“Basically, what the disease does is cause the death of brain cells,” says Lance Johnston, executive director of the Batten Disease Support & Research Association in Reynoldsburg, Ohio.
At 1, Hayley was walking and able to feed herself.
“She did all of her (developmental) milestones. Everything was fine,” Clarissa says.
Haylee said “Dada” for about a week, and then things changed. Something was wrong. For months, doctors ran tests and had a lot of theories. Then Haylee had a seizure. A brain scan showed problems, and another a couple of months later showed they had worsened.
“She’s lost everything,” Clarrisa says. “We watched her do everything and lose everything.”
By the age of 21 months, Haylee couldn’t walk. “Things just started slowing down pretty rapidly,” Clarissa says. It wasn’t until last June – well past Haylee’s second birthday – that the family got a firm diagnosis.
“All of a sudden you’re that parent pushing a wheelchair through Wal-Mart,” Clarissa says. “And it doesn’t seem real.”
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The Joyces – Steve and Clarissa – are doing everything they can to make their Blue Springs home a place of comfort, care and love for Haylee.
“She functions about like a newborn infant,” Clarissa says but adds that she knows Mom, Dad, and 6-year-old sister Hannah.
“She knows that we’re there as a family,” she says.
“More than anything,” Clarissa says, “we just want to make memories because memories are what we’ll have to keep.”
Those will include a family trip next month to DisneyWorld, courtesy of the Make a Wish Foundation. The girls will get to swim with dolphins.
Haylee used to love doughnuts.
“Her favorite was glazed doughnuts,” says her mom, Clarissa Joyce. “She loved them. I’d bring them home from work.”
At first, the little girl would eat them on her own. Later, it got to the point that Mom or Dad would have to tear one up for her.
After a while, they’d have to feed it to her.
Now, there are no more doughnuts for Haylee, a 2 1/2 year-old with curly red hair. She is suffering from a genetic, neurological disease that’s slowly taking away one life function after another and will cut her life short.
–––
About 150 children in America suffer from infantile Batten disease. It attacks the brain and progressively shuts down parts that control walking and talking and all the other things most toddlers are learning how to do.
“Basically, what the disease does is cause the death of brain cells,” says Lance Johnston, executive director of the Batten Disease Support & Research Association in Reynoldsburg, Ohio.
At 1, Hayley was walking and able to feed herself.
“She did all of her (developmental) milestones. Everything was fine,” Clarissa says.
Haylee said “Dada” for about a week, and then things changed. Something was wrong. For months, doctors ran tests and had a lot of theories. Then Haylee had a seizure. A brain scan showed problems, and another a couple of months later showed they had worsened.
“She’s lost everything,” Clarrisa says. “We watched her do everything and lose everything.”
By the age of 21 months, Haylee couldn’t walk. “Things just started slowing down pretty rapidly,” Clarissa says. It wasn’t until last June – well past Haylee’s second birthday – that the family got a firm diagnosis.
“All of a sudden you’re that parent pushing a wheelchair through Wal-Mart,” Clarissa says. “And it doesn’t seem real.”
–––
The Joyces – Steve and Clarissa – are doing everything they can to make their Blue Springs home a place of comfort, care and love for Haylee.
“She functions about like a newborn infant,” Clarissa says but adds that she knows Mom, Dad, and 6-year-old sister Hannah.
“She knows that we’re there as a family,” she says.
“More than anything,” Clarissa says, “we just want to make memories because memories are what we’ll have to keep.”
Those will include a family trip next month to DisneyWorld, courtesy of the Make a Wish Foundation. The girls will get to swim with dolphins.
There is also therapy, including pool therapy, that she seems to enjoy.
“She likes to be held a lot. I think she finds comfort in being held,” Clarissa says.
Some help is available. Missouri First Steps, a state program offering help to families of those under 3 with delayed development or developmental disabilities, pays for almost all of the therapy. The Batten disease group has connected the Joyces with other families.
“It’s really helpful to talk to other parents who are going through the same thing,” Clarissa says.
Family has pitched in, too.
“All of our extended family has been awesome,” Clarissa says.
Doctors say Haylee could live to somewhere between ages 4 and 8.
“I don’t know exactly what we’re looking at,” Clarissa says.
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There are about 450 known cases overall of children with this disease, which takes several forms. (Haylee’s is infantile Batten Disease, or specifically infantile neuronal ceroid lipofuscinosis.) But unlike AIDS and many other higher-profile diseases, it’s hard to track the hundreds of types of neurologic disease.
“There is no reporting mechanism for neurologic diseases,” says Johnston, with the support and research group.
The disease is hard to diagnose. It’s rare and hardly the first thing a doctor would think of. The symptoms could indicate any number of things. The vision problems, for example, come early but are often diagnosed as pigmentosis or macular degeneration.
“So they get a lot of labels hurled at them until someone starts putting the pieces together,” Johnston says.
The progression is often loss of sight, then walking, then short-term memory, then long-term memory. The child is bedridden. Then goes the ability to eat and drink, and a feeding tube is needed. Then comes dementia.
“Eventually, the brain will deteriorate to the point that it can’t function. Then they die,” Johnston says.
Batten is catch-all for 10 diseases, linked to 10 different genes. It was first described by a doctor in Norway in 1826. Then an English doctor – Batten – looked at it early in the 20th century. It wasn’t until the mid-1990s that research really got going.
Johnston sees progress there. Eight of those 10 genes have been identified. If scientists can find a way to get enough of a specific enzyme to the brain, that would be a breakthrough. Still, research funds are comparatively slight, about $4 million a year between the federal government and the support and research group.
“Since 1995, we have actually come a long, long way,” he says.
Another emphasis for the group is to get information to pediatric neurologists.
“And it’s paid off. Children are generally being diagnosed earlier,” Johnston says.
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Haylee is on a lot of medications, mostly to control seizures – “Basically, it’s muscle spasms,” says her mom – and to help her sleep.
She can’t sit up any more. She can drink thickened liquids, and there’s a feeding tube for medication, supplemental food and water.
“She can roll over – barely,” Clarissa says. “It takes a lot of effort”
She gets therapy, but Clarissa, a nurse, says, “Realistically speaking, she’ll never make gains.”
“Everything we do is just for comfort care.”
Clarissa is clear and emphatic about how much Haylee has taught the family: What’s important, what’s not. Take things day by day. Don’t take things for granted.
“And when all is said and done, we feel lucky,” Clarissa says. “To us, she’s perfect.”
Some day, she says, Haylee will be in a place where she’s better taken care of and her body will be strong and healthy.
“I’m not religious at all, but I have to believe that.”
For today, the focus is on today and on tomorrow’s memories.
“Out of everything, I don’t want anyone to feel sorry for us. ... She’s beautiful, and she’s brought so much joy to us,”
More on Haylee: www.caringbridge.org/visit/hayleejoyce
More on Batten Disease: www.bdsra.org, the Batten Disease Support and Research Association
