Kids health

What life is like for kids with rare genetic conditions

The intimate photos in An Ordinary Day share an inside look into the daily triumphs and challenges of kids with rare genetic conditions.

Maddy just took her first step—after five years of crawling. Jonathan has just mastered eating with a spoon. He is nine years old. Gianna made the school cheer team—she was the first differently abled girl ever to do so in her hometown. Milestones that the parents of typically developing children take for granted are cause for huge celebration to the parents of kids with rare genetic conditions.

After spending time with her best friend’s son, Ethan, who has Angelman Syndrome—a disorder that primarily affects the nervous system—New York City-based portrait photographer Karen Haberberg knew she wanted to meet more kids with rare genetic conditions and document their daily joys and struggles.

An illustration of a mom holding her daughter's shouldersPlease treat my daughter like she’s human Over the course of a year, she crossed the United States, documenting 27 families with children ranging in age from 4 to 15, focusing on the banal and the extraordinary in their everyday lives: activities from bouncing on a trampoline or sporting a cheerleader uniform to getting hooked up to a feeding tube or taking tentative steps with a mobility device. The outcome became An Ordinary Day: Kids with Rare Genetic Conditions, her intimate, moving and powerful new photography book.

A rare disease or disorder is defined in the USA as a condition that affects fewer than 200,000 Americans at a time. More than 7,000 such rare diseases have so far been identified. In Canada, one out of 12 people has a rare disorder, and in the US, one in ten. Around half of those are children. In 80% of all cases, the origins are genetic.

Getting an accurate diagnosis is the biggest challenge for families. “Our research suggests that for many parents, it will take an average of two years and up to 14 years to get an accurate diagnosis,” says Durhane Wong-Rieger, president of the Canadian Organization for Rare Disorders.

And while being diagnosed with a rare genetic condition is relatively common, for two kids to have the same rare condition is not. As a result, parents whose children have a rare diagnosis often feel isolated.

“I show up at the school meetings, even the football games…but I don’t really have anything in common with the parents of the ‘typical kids,’” says Anna, the mother of 14-year-old cheerleader Gianna, who has feeding, bowel, bladder, growth and cognitive issues as well as seizures, as a result of 22q11.2 deletion syndrome. “I don’t get their world and they don’t get mine. There is no animosity, we just have different lives.”

Talking about her ambitious project, Haberberg says, “It definitely taught me perspective and to celebrate the little things your children do. I also learned what real resilience looks like. These children are just incredible. They work really hard to do better, and the parents who are advocating for them do too. I admire all of them.”

Meet ten families of kids with a rare genetic condition, and share in their daily lives, through our photo gallery.

Read more:
Dachshund data to help doctors treat kids with rare form of epilepsy
True sportsmanship: Maple Leafs sign 11-year-old with rare condition

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