Ben’s Story

“Not having a diagnosis for your child when you know something is wrong is like driving your car somewhere you’ve never been before without any directions. All you know is the general direction, and you keep moving that way – but you’re really not sure you’ll make your destination because you don’t know how to get there,” says Ben’s mother, Amy.

For the first four-and-a-half years of Ben’s life, that was how his family felt.

Ben’s story with Nationwide Children’s Hospital began when he was born. He’d had some issues in utero, but Ben was born a beautiful and healthy baby boy. But when Ben was a few months old, he began missing milestones and was diagnosed with and treated for infantile scoliosis.

Ben couldn’t hold his head up at three months, didn’t sit up until nine months and didn’t walk until he was two and a half. His family was in search of answers.

In January 2017, Ben received a genome sequencing test at Nationwide Children’s that finally confirmed an additional diagnosis and gave his family the answers they had been desperately seeking for years. Ben had X-Linked Creatine Transporter Deficiency, a lifelong condition with no cure that results in severe intellectual disability.

Today, Ben and his family have a bit more direction and know they are headed toward their destination. While they still aren’t sure completely what it will look like – they do have people to seek advice from and a better understanding of the terrain.

The Genetics Clinic at Nationwide Children’s Hospital provides diagnostic evaluations for patients with known or suspected genetic diseases, genetic and prenatal counseling for families and treatment of genetic disorders, especially inborn errors of metabolism.

“I’ve heard stories from many parents going through similar things we have, and not everyone has access to the level of care we have here. We’ve been very lucky and blessed to have resources so close to home. Many people need second opinions and have to travel to other hospitals to get the care we need, but that’s not the case for us. I’ve never had to go out of my way to get what I need for Ben at Nationwide Children’s,” says Amy, Ben’s mother.

Although Ben is nonverbal, he communicates well in his own ways and is a very happy and energetic little boy who is always laughing and smiling. He loves to be outside, ride the school bus, go to school and play with his German shepherd, Ace. His stuffed animals Mickey Mouse and Winnie the Pooh are his frequent companions.

https://flutter.nationwidechildrens.org/wp-content/uploads/2018/11/Ben-.jpg

“Not having a diagnosis for your child when you know something is wrong is like driving your car somewhere you’ve never been before without any directions. All you know is the general direction, and you keep moving that way – but you’re really not sure you’ll make your destination because you don’t know how to get there,” says Ben’s mother, Amy.

For the first four-and-a-half years of Ben’s life, that was how his family felt.

Ben’s story with Nationwide Children’s Hospital began when he was born. He’d had some issues in utero, but Ben was born a beautiful and healthy baby boy. But when Ben was a few months old, he began missing milestones and was diagnosed with and treated for infantile scoliosis.

Ben couldn’t hold his head up at three months, didn’t sit up until nine months and didn’t walk until he was two and a half. His family was in search of answers.

In January 2017, Ben received a genome sequencing test at Nationwide Children’s that finally confirmed an additional diagnosis and gave his family the answers they had been desperately seeking for years. Ben had X-Linked Creatine Transporter Deficiency, a lifelong condition with no cure that results in severe intellectual disability.

Today, Ben and his family have a bit more direction and know they are headed toward their destination. While they still aren’t sure completely what it will look like – they do have people to seek advice from and a better understanding of the terrain.

The Genetics Clinic at Nationwide Children’s Hospital provides diagnostic evaluations for patients with known or suspected genetic diseases, genetic and prenatal counseling for families and treatment of genetic disorders, especially inborn errors of metabolism.

“I’ve heard stories from many parents going through similar things we have, and not everyone has access to the level of care we have here. We’ve been very lucky and blessed to have resources so close to home. Many people need second opinions and have to travel to other hospitals to get the care we need, but that’s not the case for us. I’ve never had to go out of my way to get what I need for Ben at Nationwide Children’s,” says Amy, Ben’s mother.

Although Ben is nonverbal, he communicates well in his own ways and is a very happy and energetic little boy who is always laughing and smiling. He loves to be outside, ride the school bus, go to school and play with his German shepherd, Ace. His stuffed animals Mickey Mouse and Winnie the Pooh are his frequent companions.

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