When a child has a rare disease, it affects the whole family. Dr. Dawn-Marie Gotkiewicz, pediatrician at Akron Children’s Urgent Care, knows what it’s like. She lost both of her younger brothers, Kenny and Kevin, to a rare genetic disorder called Hunter syndrome. Becoming a big sister “Kenny arrived when I was 2 and a […]
What is prenatal genetic testing, and should I get it?
With many advancements in medicine, you can learn so much about the health of your baby. That’s why when you’re pregnant, you can expect to have many screening tests to check for risks of birth defects and other issues in your growing baby. And you probably think genetic testing is included in these screenings — […]
Lindsay Davis leads the way for heart safety education
Lindsay Davis, keynote speaker at the Akron Children’s Rare Disease Day event on March 5, planned on being a professional dancer. But a serious heart condition derailed that dream and turned her into an advocate for saving young athletes’ lives. Lindsay’s symptoms and the long wait for the right diagnosis As a teenager growing up […]
Twin boys are thriving 1 year after their emergency birth
When Alison Speelman learned she was pregnant in the fall 2023, it was a total surprise. But a bigger surprise was yet to come. “I had my first ultrasound at 7 weeks, and that’s when we found out we were having twins,” she said. “My husband, Josh, and I didn’t speak on the ride home […]
Tenacious Tiffany shines a spotlight on rare diseases
Tiffany Wedekind – also known as Tenacious Tiffany – is a 4’5” force of energy and enthusiasm. She and multiple relatives have the rare, fatal genetic disorder called “progeria” – which causes rapid aging. But she’s not letting that stand in the way of loving life. Tiffany enjoyed an active childhood, participating in dance, sports, […]
5 ways to reduce the risk birth defects
January is National Birth Defects Awareness Month. If you are pregnant or thinking about becoming pregnant, learn how to reduce the risks. Facts Birth defects are conditions present at birth that may adversely affect an individual’s health by changing the body’s shape or functioning. They can affect general health, how the body develops or how […]
