Family seeks help coping with rare disorder

Blakelee Mayr is tiny.

Her dainty hands and feet, the thick unibrow, and the small, upturned nose are only a few indicators of the disability that stunts her mental and physical growth. Unlike her five-month old brother, the 17-month-old cannot sit or crawl. She also weighs only 13-and-a-half pounds.

Her Morinville family is now fundraising to go to a conference in California in June, where they can learn more about Cornelia de Lange syndrome, a condition that has affected Blakelee since birth.

“It’s still fairly new to us. It’s very complex,” said her mother Kassandra.

Cornelia de Lange syndrome (CdLS) is a genetic disorder that’s present from birth. It is estimated that one in 10,000 to 30,000 newborns have the syndrome, which can often affect physical and intellectual development, and lead to severe developmental anomalies.

Typically, children with the disorder have excessive hair growth and unique facial features, such as upturned noses, long eyelashes, connected eyebrows, and thin downturned lips.

The children’s birth weight is low, their growth delayed, and common medical issues include heart defects, vision and hearing problems, missing limbs and gastro-esophageal reflux disease – a condition that is present in Blakelee.

Unable to feed herself, the little girl is nourished through a tube in her stomach.

“She doesn’t talk either. She makes low-tone sounds,” Mayr said. “She had three hearing tests and she failed them all. But they don’t know if she can’t hear or if it’s a developmental issue.”

When Blakelee was first born, it took weeks until the family was given a diagnosis and found a doctor in Edmonton that had dealt with Cornelia de Lange patients before, Mayr said.

But there aren’t any specialists available to them and their greatest support group is an online discussion forum for parents in the United States.

“So that’s one reason why we want to go to the conference,” she said. “There’s so much information to take in and there’s not many doctors that know about her syndrome.”

The biannual conference takes place June 26 to 29 in Costa Mesa, Calif. Hosted by the American CdLS Foundation, the conference offers families an opportunity to meet one-on-one with doctors who specialize in the syndrome.

Families also receive a personal care plan to bring back to Blakelee’s doctors at home. And they can meet with other families and children who are living with the disability, Mayr said.

The conference will cost the family about $5,000, including registration, travel and accommodations. That’s a struggle with four children and one income, which is why they are asking for help, Mayr said.

So far the family has raised about $2,000 through Go Fund Me, an online donation platform.