Siblings fight rare disease
Expensive, overseas stem cell treatment the only hope

NATALIE MUSSEAU
The Gulf News

Lori Keeping is one of countless busy mothers trying to fit everything in her day.

She has a full-time job outside the home, child-care responsibilities, cooking and cleaning chores and numerous other typical tasks.

But her family is anything but typical.

Added to the normal duties are countless hours of Internet research, conversations with other parents, doctors’ appointments, media interviews and fundraising — all centered on a disease that may rob her of two children.

Both daughter Jamie, 5, and son Carson, 2, have been diagnosed with Batten disease.

Usually accepted as fatal, Batten disease is a rare inherited disorder that affects children with the progressive loss of motor and cognitive skills. Life expectancy for some cases is less than eight years of age.

But that’s not an accepted fact for Burnt Islands native Ms. Keeping or her partner, Sheldon Huelin, who is originally from Isle aux Morts.

The pair, now living in Brantford, Ont., are trying to raise enough money to take their children to China for stem cell treatments that may offer hope. The bill could top $140,000.

Jamie needs constant care, according to Ms. Keeping. She doesn’t talk, cannot walk or even sit up on her own and is losing her sight. Her parents aren’t sure if Jamie is always aware of her surroundings.

Jamie has good days and bad, said her mother, who sometimes finds it painful to watch her daughter. Her mother and father can often tell what she’s feeling by the tone of noises she makes.

“When she laughs, it makes us laugh,” said Ms. Keeping. The family has workers come in every day to help care for Jamie.

For now, Carson is a mostly typical two-and-a-half-year-old. Ms. Keeping said he doesn’t talk, but does all the other things a boy of his age would. More symptoms likely won’t start appearing for another six to 12 months.

The beginning

When Jamie was about two-and-a-half, her parents noticed she was barely talking. Ms. Keeping said that concerned her because other children are hardly ever quiet at that age.

They took Jamie to a doctor who basically dismissed their concerns, saying that she would talk when she was ready. As other symptoms appeared, such as the loss of what speech she had and stumbling when she walked, they sought more medical attention.

“Originally, she was diagnosed with autism,” said Ms. Keeping. She added that she has since learned that early misdiagnosis is common with Batten disease. There are only 47 known cases of the disease in Canada.

Jamie was finally diagnosed with Batten disease after being hospitalized for dehydration after getting sick and refusing to eat or drink. Ms. Keeping said the doctors arranged a meeting where they told she and Mr. Huelin what the diagnosis was, and what it meant.

“We weren’t ready to hear what they were ready to tell us,” said Ms. Keeping. She said they were told to take Jamie home, make her comfortable and wait for the end; there was nothing that could be done for her.

Ms. Keeping was already pregnant with Carson.

It wasn’t the first time the young couple dealt with heartache. Their first child, Preston, was born in November 1999 with an underdeveloped chamber in his heart. Despite weeks of hospital treatment, he died in January 2000.

Doctors said the defect was a “fluke,” according to Ms. Keeping. She said, in some ways, she’s now curious if Preston had Batten disease. It would not have caused his heart problem, but she wonders if he would have developed the symptoms if he had lived.

Stem cell hope

After Jamie’s diagnosis, Ms. Keeping said she initially didn’t want to talk to anyone about it, or want to see other children with the disease. But she and Mr. Huelin soon started looking for information about Batten disease on the Internet. They soon made contact with other parents dealing with the same things.

It was through this research that the couple found out about the possibility of a stem cell treatment.

Stem cells are special cells that have the potential to develop into any kind of specialized cell in the body, such as brain cells, liver cells or nerve cells. They are found in bone marrow, embryos and umbilical chords. Stem cell research and treatments are controversial because some use aborted embryos or create embryos specifically for research purposes.

There is a procedure being done in China, where umbilical chord stem cells are surgically implanted into areas of the brain. The hope is that these cells will turn into the type of cells that produce the specific enzyme missing in Batten disease patients.

Ms. Keeping said stem cell treatments are not controversial to her.

“I can’t see how something so good could be so wrong,” she said, adding that research and treatments use stem cells that would have otherwise been discarded.

Ms. Keeping said they have been in contact with a family in England whose child received the treatment. She said the six-year-old is making progress and can now say some words and sit up on her own — things that were impossible before.

It is unknown how much the treatments will help or if the effects will be permanent. Ms. Keeping said she knows of only three children with Batten disease who have undergone the treatment.

But it’s that hope of progress that has Ms. Keeping and Mr. Huelin working to raise the money needed to take both their children to China to receive the treatment.

The cost

Ms. Keeping said the stem cell treatment in China will cost about $70,000 for each child. That cost includes the procedure and a required one-month stay in China. It could be less expensive to have both children treated at the same time.

It’s a lot of money for the couple. Ms. Keeping works as a machine operator for a vinyl siding company and Mr. Huelin is a millwright at an automotive manufacturer.

They have set up a website (www.jamieandcarson.com) and a toll-free number (1-866-553-0770) to provide information and accept donations. Family members organized a greenback shower in Isle aux Morts on Thursday. Some 140 people attended and about $9,700 was raised.

Ms. Keeping is also waiting for a call from a research project in Portland, Ore. Carson is on a waiting list to be tested to see if he will qualify for stem cell research going on there. Jamie’s case is now too severe to qualify.

Ms. Keeping remains hopeful for both her children, even if that’s sometimes a difficult attitude to maintain.

“You have to stay hopeful, stay positive. Knowing what could be coming for Carson, you have to,” she said.

“We take it day-by-day. I can’t tell you what’s going to happen tomorrow because I don’t know.”

nmusseau@gulfnews.ca