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Feb. 26, 2019

TOPIC: Advocacy, Get Involved, Patient Stories, Rare Disease Day

Ben’s Story in Honor of Rare Disease Day

Posted by Christina Jensen

The following story was submitted by Leah Schust in honor of Rare Disease Day. In this story, Leah shares her family’s journey of searching for and receiving a diagnosis for their son, Ben, of  SCN2A Disorder.

Share your story for Rare Disease Day here.


Benjamin, known to all who love him as Ben, is an adorable eight-year-old who resides in Gettysburg, PA with his mom, dad and Mimi. His family waited a long time for a baby and when Ben was born, their lives and hearts were full and complete. Ben was the most beautiful baby in the nursery: fact, not bias. His first year was spent being loved and spoiled as all babies should be,  meeting his milestones and walking on his first birthday! One short month later, he began to regress developmentally and had his first seizure at 13 months old.

For the next year, Ben had hundreds of seizures a day. He regressed back to a newborn and the doctors prepared his family for the worst. Even if he did live, he would never walk, talk or have any quality of life. So his parents did what any parent would do, they got a second, third, even fourth opinion. They traveled all over the U.S. and finally found a team of doctors who refused to give up on their baby. The new team was able to identify the cause of Ben’s illness, an extremely rare, genetic disorder called SCN2A.

Ben went through years of grueling tests, treatments and many, many drugs but they finally found a combination that worked and his seizures are well controlled now. The seizures caused a lot of damage to Ben’s developing brain which left him severely disabled, both physically and developmentally. Ben lost the ability to eat and had a feeding tube placed. He has a long list of diagnoses that are caused by SCN2A Disorder, including Autonomic Dysfunction, Scoliosis, Cortical Blindness and Autism. Despite all of the health challenges this little boy faces, he perseveres.

His family supports him through countless hours of therapy and medical appointments to keep him progressing. Their advocacy for Ben goes beyond just making sure his needs are met and his potential is achieved. All of their extra time goes into the FamilieSCN2A Foundation, where Mom serves as President and Dad as a fierce advocate. For Rare Disease Day, Ben’s mom plans to light up social media with educational information to raise awareness for rare diseases and to attend NORD’s leadership dinner in Washington, D.C.