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You may not know someone who has a rare disease, but the number of people affected by them is staggering: 25-30 million people in the U.S. live with a rare disease, and most of which are thought to have a genetic component, according to the U.S. Department of Health and Human Services.
Although each person is affected differently by their diagnosis, living with a genetic condition can impact every aspect of a person’s life — in some cases, severely limiting their movement, ability to eat, speak, grow, develop, or live independently. And although families and children from all over the world are affected by chromosome or genetic changes, many of us don’t understand the everyday reality of living with one.
But one writer and photographer is looking to change that with an intimate new book that offers a peek into their world. In An Ordinary Day: Kids with Rare Genetic Conditions, acclaimed New York photographer and mom of two Karen Haberberg invites us into the lives of 27 families caring for kids living with rare genetic conditions. In doing so, Haberberg manages capture the struggles, love, and miracles that make up their lives with honesty and heart. And as I was reading, I felt as though I was right there with each family.
Take 5-year-old Darus, who was diagnosed with Phelan-McDermid syndrome when he was 4 years old. Darus can’t dress himself, feed himself, or express how he feels in words. He is also constantly in motion and has no sense of danger. And yet, he is just like my own 5-year-old son. He loves the beach, garbage trucks, sports — and getting giant bear hugs from his dad.
“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,” Darus’s father Jonas shares in the book.
Haberberg explains that she was inspired to embark on this intimate project by her late baby brother, who sadly passed away due to Tay-Sachs disease before she was born — a loss her parents still struggle with some 50 years later. Also called to action by her friend’s son diagnosed with Angelman syndrome, Haberberg says she began the project to understand both the challenge and compassion that goes into caring for a child with a rare genetic condition.
“Hearing her struggles and victories made me realize how little attention families who have children with rare genetic diseases receive and how common it actually is,” Haberberg reflects. “One in ten families in America has a child with a rare condition and 95 percent of those conditions do not have on single FDA approved drug treatment.”
This feeling of isolation is echoed frequently by the families that Haberberg interviewed.
Nine-year-old Jonathan was diagnosed with Mowat-Wilson syndrome, a rare condition that leaves him unable to talk or self-feed. Jonathan, who loves football and listening to live music, is also prone to seizures.
“Because it’s so rare, there’s no real documentation,” says Jessica, Jonathan’s mom. “There were no other cases that we could look at. In the beginning, we did find a few families here and there, but that was it. We kind of had to do what we felt was right and what he was responding to and take it day by day.”
Haberberg decided to use her talents as a photographer to share these families’ stories, while bringing awareness to their plights, joys, and triumphs. What struck me most as I flipped through the book and absorbed myself in the photos was how real and familiar each child’s life seemed to be. The children featured have similar interests and hopes as my own children. And yet, they live with challenges that make aspects of their lives much more difficult.
Quinn, age 5, loves music, dancing, playing ball, and bouncing on trampolines. But polymicrogyria makes many of these activities difficult for her. She has developmental delays and is prone to seizures. She also has trouble speaking and swallowing.
Quinn’s mom Michelle has a realistic attitude about her daughter’s condition, but also tries to keep things as positive as possible.
“It can happen to anybody,” she shares. “It does change your world, it does change your lifestyle, but with support systems and whatnot, you get through it and you make the best of it.”
Despite the many moments of strength and hope she witnessed while writing the book, Haberberg shares with Babble that the series opened her up to a whole world of parenting pain that was initially hard to grapple with. “There are many difficult aspects of parenting for all of us, and these families certainly have more than their share,” she says.
“Many of the kids aren’t able to speak or communicate well,” she tells Babble. “As a result, it’s difficult for parents to get their kids’ needs met. Many of the kids don’t speak and struggle with communicating, which can contribute to their frustration and tantrums.”
Ava, age 8, has SATB2-associated syndrome, a rare condition that only 50 other children are known to have. It leaves her unable to speak or communicate. She has poor fine motor skills and muscle tone, especially in her face.
“She’s essentially an 18-month-old in an 8-year-old’s body,” says her mother Jennifer. “They had told me really early on that they probably would never know exactly what was causing the delays and why she wasn’t speaking. It was hard, it was very hard to come to terms with that and there were days where I would just not leave the house.”
Hardships aside, Haberberg was able to capture the ordinary — and often extraordinary — moments these families experience on a daily basis. “Despite the challenges these families face, there is joy and laughter and love,” says Haberberg. “These kids give their families more than you could imagine.”
In my quest to learn more and better support families of children with genetic conditions, Haberberg offered some good advice. She says that if there is someone in your life with a difference, such as a genetic condition, make sure you are not unintentionally excluding them, even if there are potential limits to their participation.
“Many of the parents in the book comment that most of the people they socialize with since their child was diagnosed, are from the rare genetic disease community,” according to Haberberg. “Their friends with typical kids sometimes don’t invite them to parties because they worry that if the kid with a rare condition attends the party and has an outburst or a behavioral issue, the party will be ruined.”
Unfortunately, exclusion can stem from fear or a general lack of understanding. But as Haberberg says, “It’s time we lean in,” and begin inviting families like these into our lives.
“There are plenty of people who do want to help but don’t know how. If you don’t know what to do rather than staring, ask questions,” Haberberg shares. “Kids are often afraid of kids who look and act differently. It would be wonderful if schools help educate kids about accepting what is different. Only then can we expect kids to feel comfortable enough to reach out and lend a helping hand.”
Yes, it starts with education. And it seems to me that a book like An Ordinary Day would be a fantastic learning tool for not only teaching children about rare genetic conditions, but initiating important conversations about acceptance and inclusion.