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Rare Disease Day Q&A with Karen Haberberg

Q&A with Jamie Kostialik, MS, LCGC, Medical Science Liaison, Counsyl

Every year, the last day of February is celebrated as Rare Disease Day. This is a day to recognize, raise awareness, and support those who have been affected by a rare disease. These conditions are individually rare, but collectively common.

Recently, Counsyl was honored to host NYC-based photographer and author of An Ordinary Day, Karen Haberberg. Personal experience with rare disease led her to create An Ordinary Day, in which she captures the daily life of families who have been affected by a rare genetic condition. Her hopes for this book are to raise awareness and empathy for those affected by these genetic conditions and to connect these families to each other and the world.

During her time visiting Counsyl, Karen was also able to sit down with one of Counsyl’s genetic counselors, Jamie Kostialik, for a Q&A. Read below to learn more!

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Counsyl employees, Rotem and Jamie, with photographer Karen Haberberg during her visit to Counsyl HQ.

Jamie: What influenced you to take photos of families living with genetic conditions?

Karen: An Ordinary Day was a labor of love for me. My parents lost a child to Tay-Sachs disease before I was born and almost 50 years later, they still suffer from the loss of my brother, Rafi. More recently, my best friend’s son was diagnosed with Angelman Syndrome. Hearing her struggles and victories made me realize how little attention families with rare genetic conditions receive and how common it actually is. According to Global Genes, one of the leading rare disease patient advocacy organizations in the world, more than 350 million people are living with rare disease, including 30 million Americans. An estimated 80% of these are caused by faulty genes.

Jamie: What did you want viewers to get out of seeing your images?

Karen: The families in the book are not very different than families with “typical” kids. They are doing the best they can to be the best parents they can be and to help their kids be the best version of themselves. They advocate for their kids, they work to help them be independent and successful. The everyday moments captured in An Ordinary Day hope to inspire awareness and empathy, while highlighting the commonalities between families with rare genetic conditions, and more deeply between us all.

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Pictured is Ethan, center, who has Angelman syndrome, playing with his two brothers.

Jamie: What is something you learned about genetic conditions after taking these images?

Karen: I learned about 27 specific genetic conditions and their effects on these kids. While the 27 diseases vary, these families have many things in common; they exude perseverance, perspective and resilience.  

Jamie: What do you see is the value of genetic screening?

Karen: There are no words for how important genetic screening is both prior to having a child and afterwards, if issues arise. We as parents have a right to know if our children may have a life-threatening condition. Once the child is born, early diagnosis and early intervention can really help improve their child’s daily life.

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Pictured is Brian, who has ataxia-telangiectasia. He loves superheroes.

Jamie: Did you get any genetic screening done before or during your own pregnancy?

Karen: I did get genetic screening and I am a carrier of Tay-Sachs disease. Fortunately, my husband is not. My parents celebrated the day that his screen came back negative for Tay-Sachs. I am a firm believer of the importance of genetic screening.

Jamie: How do you view genetic screening through the lens of an advocate for those with genetic conditions?

Karen: Knowledge is power. Genetic screening and proper diagnosis are paramount in getting proper treatments, if they exist. What often happens is there is little scientific data on each disease. Families can be left with a diagnosis but little information on what it means and how to best proceed to get their children the care and support they deserve.

Some of the conditions highlighted in Karen’s book can be found on the Counsyl Foresight™ Carrier Screen. For more information, visit counsyl.com/foresight.

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Karen’s book, An Ordinary Day, captures the daily life of families who have been affected by a rare genetic condition.

You can purchase Karen’s book, An Ordinary Day here – all of the proceeds go to Global Genes.

JAMIE

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