Special needs

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.

By Jennifer Chen

What life is like for kids with rare genetic conditions

Photo: Karen Haberberg. Captions excerpted from An Ordinary Day: Kids with Rare Genetic Conditions with additional interviews

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.

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.

What life is like for kids with rare genetic conditions

Addie

Addie loves to climb and bounce and is a huge fan of Mickey Mouse. She also loves to sing. Doctors predict that the four-year-old, who was diagnosed with a Related Intellectual Disability syndrome, will not exceed an IQ of 70. Addie is mostly nonverbal, not able to walk on her own, and extremely farsighted. She uses a feeding tube and a communication device. “It’s really, really hard when she is with the kids her own age because they still think she is a baby,” says Jennifer, Addie’s mother.

A young child walking with a walkerPhoto: Karen Haberberg. Captions excerpted from An Ordinary Day: Kids with Rare Genetic Conditions with additional interviews

Cassie

Cassie was diagnosed at birth with Marfan syndrome, a genetic disorder that affects the connective tissue, causing features such as long limbs, a curved spine, and a dilated aortic root, which can be fatal if not diagnosed in time. Her mother Alix says, “I want people to know that even though Cassie copes with a lot, she also has many joys in her life, including friends and family, her kittens, singing, reading Harry Potter, cooking, swimming, and dancing around the kitchen. Her life is not her medical condition.”

A close up photo of a young girlPhoto: Karen Haberberg. Captions excerpted from An Ordinary Day: Kids with Rare Genetic Conditions with additional interviews

Shaan

At 14, Shaan was medicated for OCD. At 16, he unexpectedly went into cardiac arrest and almost died. Blood work then revealed a genetic mutation—ALD, X-linked adrenoleukodystrophy—a progressive disease that affects the nervous system and adrenal glands. He now has trouble self-feeding, speaking, listening and processing. “I do feel isolated sometimes when I see other normal boys. They can do whatever they want. I want my son also to do all the things he wants,” says his mother, Ritu.

A teenage boy sitting in his roomPhoto: Karen Haberberg. Captions excerpted from An Ordinary Day: Kids with Rare Genetic Conditions with additional interviews

Ian

Ian, 5, loves books, sensory items like beans and rocks, Thomas the Tank Engine, and singing with his mom. He required oxygen full-time for the first three years of his life and was later diagnosed with Megalencephalycapillary malformation syndrome and Polymicrogyria. Symptoms vary from patient to patient, but for Ian, they include a large head, body asymmetry, developmental delays, soft skin that gets red or blue from changes in temperature, seizures and low muscle tone.

Young boy bouncing happily on a trampolinePhoto: Karen Haberberg. Captions excerpted from An Ordinary Day: Kids with Rare Genetic Conditions with additional interviews

Darus

Darus is not able to feed himself, dress himself, use the bathroom himself, or verbally express the way he feels. He is in near-constant motion and has little to no sense of fear or danger. “It’s one thing to say, ‘Hey, we support you,’ but I don’t think anyone truly appreciates what we go through on a daily basis,” says Jonas, the five-year-old’s father.

Young boy playing in a bucket of waterPhoto: Karen Haberberg. Captions excerpted from An Ordinary Day: Kids with Rare Genetic Conditions with additional interviews

Jamesy

Jamesy, 7, has Duchenne Muscular Dystrophy. “My son, by the age of 9 to 12, could lose his ability to walk, and if that happens, the science community says that no matter what drugs come out, they won’t try them on these kids because their bodies are too ravaged with scar tissue, and too tough to reverse it. So not only is his body going to break down in a very demeaning way, but the sands are literally seeping through the hourglass,” says Jim, Jamesy’s father, who created a foundation to fundraise for research.

A young boy inside a chamberPhoto: Karen Haberberg. Captions excerpted from An Ordinary Day: Kids with Rare Genetic Conditions with additional interviews

Louis

Louis has been drumming since second grade, but now struggles to focus when playing. As a result of Postural Orthostatic Tachycardia Syndrome—a diagnosis Louis received at age 12—Louis’s heart rate falls dangerously low, causing what he describes as a “crash.” Overcome by dizziness and lightheadedness, Louis has to immediately stop what he is doing. He also has gastrointestinal problems and his joints sublux and dislocate randomly. The 15-year-old loves to joke around and hang out with his friends. 

A teenage boy kissing his mom on top of her headPhoto: Karen Haberberg. Captions excerpted from An Ordinary Day: Kids with Rare Genetic Conditions with additional interviews

Gianna

While in utero, Gianna was diagnosed with 22q11.2 deletion syndrome. At just three days old she had nasal surgery, and then at two months old, heart surgery. To date, she has had 26 surgeries. Gianna, 14, suffers from seizures, feeding and swallowing issues, growth deficiency, bowel and bladder incontinence, cognitive delays, OCD, ADD, and Tourettes spectrum, among many other things. Despite this, Gianna is always enthusiastic. Her favorite activity is cheering.

A young girl in a cheerleader outfitPhoto: Karen Haberberg. Captions excerpted from An Ordinary Day: Kids with Rare Genetic Conditions with additional interviews

Jonathan

Jonathan, 9, has Mowat-Wilson syndrome, an incredibly rare condition discovered in 1998. He cannot talk, and although he is capable of eating soft foods, he generally does not like to eat and cannot self-feed. He also has seizures. Jonathan loves watching football and listening to live music. “We have connections to other families with Mowat-Wilson syndrome around the world through social media and family conferences, but our daily life is a bit lonely.” says Jessica, Jonathan’s mom.

Young boy being fed by his parentsPhoto: Karen Haberberg. Captions excerpted from An Ordinary Day: Kids with Rare Genetic Conditions with additional interviews

Clara

Clara was born with benign heart tumors and has tubers growing in her brain, which cause developmental and language delays. To minimize seizures, the speech center of her brain was removed. “We don’t know what her favorite color is, we don’t know what her favorite food is, we don’t know why or why not she’ll do or not do certain things,” says Joe, Clara’s dad. “But there’s a reason why my daughter is here on this planet.” Clara’s mother Kate says, “She is finding her place in the world just like everyone else.”

A young girl standing beside her bed with Kermit the FrogPhoto: Karen Haberberg. Captions excerpted from An Ordinary Day: Kids with Rare Genetic Conditions with additional interviews

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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