Seeking support: Melissa Little and Brent Cox cuddle with their daughter Madison

Seeking support: Melissa Little and Brent Cox cuddle with their daughter Madison

Family rallies for Madison

Bake sale: Parents try to raise funds to take daughter to California for specialized evaluation of rare genetic disorder

Madison Cox is a happy, loving child who, like many other four year olds, loves animals, Dora the Explorer and, most of all, people.

Madison is also a child who lives a life filled with challenges and struggles that few must face.

In 2011, she was diagnosed with Congenital Disorders of Glycosylation, type 1A, or CDG1A, a rare disease of which there are currently only four known cases in Canada, say her parents Melissa Little and Brent Cox. Worldwide there are about 400.

They explain that Madison was not able to hold up her head or lay on her stomach until she was 14 months old. Holding her own bottle or sitting up unassisted wasn’t possible until she was nearly three. By the time she was two-and-a-half she already had two surgeries for her weak eye muscles.

The genetic disease means that Madison’s cerebellum is underdeveloped and her body doesn’t process sugars and proteins properly. The cerebellum of many of the children with CDG doesn’t develop at all, Brent says, and the children don’t live long.

“Most kids with CDG don’t live a full life, they pass away fairly young because of liver and other organ failure.”

Brent and Melissa have three other children, and all are healthy.

Madison’s fifth birthday is in April but she cannot walk or talk.

“She can’t walk but she is starting to stand a little,” explains Brent. “She’s starting to speak as well but she’s hard to understand.”

Madison must be monitored constantly for fear of her having seizures. However, her mind is good, she understands well and it’s mostly the motor skills that are delayed, Brent says.

“Madison is a sweetheart. She brightens everybody’s day – she’s always got a big smile. We have a lot of people helping us with this, a lot of people who want her to have the best.”

Help, however, has not been so forthcoming from the health-care system, they say.

When Madison was first diagnosed, BC Children’s Hospital in Vancouver was excited to have her there, says Melissa. But that interest dropped off, and she surmises it’s because the disease is so rare.

Through her own research and a CDG support group on the Internet, she learned about the Sanford-Burnham Medical Research Institute  in California where, she says, there are professionals with vast knowledge of the disease. Although Madison was initially diagnosed with CDG-1A, there are many categories of the disease and Melissa would like to have her tested further.

However, Melissa and Brent have not been able to get help from the health ministry to get her there.

“It’s pretty sad, Madison’s a very special-needs child and the government can’t pay for anything she needs,” she says, noting she was told by a social worker that an autistic child can qualify for $30,000 in funding.

“Most of the (health-care) people I’ve talked to are very against going out of Canada for treatment,” she says. “Our medical system will not help in any way, which is sad as help and knowledge here on the disease is scarce.”

The health ministry’s media relations department responded to the Observer in an email stating: “The Ministry of Health will pay for out-of-country care when medical treatment is recommended by the attending specialist in B.C., and when the treatment is not available anywhere else in Canada. It’s important to note the request for out-of-country care is made by a specialist physician through an established process.”

The ministry also said the family should contact Madison’s specialist as well as Health Insurance BC.

Meanwhile, Melissa and Brent are going to get Madison help in the best way they can think of – a big bake sale and silent auction.

With help from friends and supporters, on Friday, Feb. 28 starting at 2:30 p.m., the couple will set up in the Mall at Piccadilly. The public is invited to stop by.

“Come learn about Madison and get the word out about kids with rare diseases in our country…,” says Brent. “I know we are a small country, but they should be sent where they can get to the therapies they need. It would be great for kids – and anyone for that matter – who need therapies that aren’t here, to be able to be sent to where they are available. That would be the ultimate goal.”

Donations can also be made directly to any TD Bank, account number 93660-004-6331161.