Denver toddler's rare disease brings families together

DENVER - A little girl in Denver is one of just 90 people in the world, who has been diagnosed with a rare genetic disorder. KCNQ2 causes epilepsy, an intellectual disorder and autism. Right now, there is no cure, very few treatments and no FDA approved drugs for children, who have it.

Harper Johnson is one of those children. At almost three-years-old, she can't walk by herself and has only said a handful of words. She communicates with her mom, Scotty Sims, mainly using sign language.

"About 24 hours after she was born, she began having some concerning behavior. We ended up determining it was seizures. She was flight-for-lifed to Children's Hospital, where we met with multiple doctors and tons of specialists. Nobody could quite understand what was going on, " said Sims.

Harper was almost a year old before Sims and her husband, Jim Johnson, finally found out what was wrong. But, even with that final diagnosis, there were still so many unanswered questions.

"No one still had a specific what this diagnosis was or what it meant in terms of the genetic results," said Johnson.

"You feel very isolated. You feel very alone. Nobody understands what you are going through because you are told you're one-of-a kind," said Sims.

Harper wasn't one-of-kind. Desperate to find help for their daughter and themselves, Sims and Johnson turned to the internet.

"After months and months of researching everything on the internet we could we find, I got to the end of Google and the internet and started over again. I was actually able to find another family in Chicago," said Johnson.

Soon after, Sims found a mother in Australia, whose 9-year-old daughter also had KCNQ2. The three families started talking and earlier this month, they all met in Chicago. Three days later, they gathered again in Houston, where they met with Dr. Edward Cooper. He's been researching KCNQ2 for more than a decade.

"KCNQ2 is a potassium channel and its job in the brain is to prevent excess activity as the kind that happens in epileptic seizures. It has other functions in insuring our thinking and functions of all the brain cells. When its function is diminished, individuals have difficulty developing their thinking, language and motor skills," said Dr. Edward Cooper.

While he hasn't found a cure, Dr. Cooper has made tremendous progress. He has developed test that should deliver results in about a week or two. "That is a much improved turnover from the three or four months, which have been required in the past," said Dr. Cooper.

While Sims and Johnson are grateful for the work Dr. Cooper is doing, what they're most thankful for is the relationships they've formed with other families dealing with this diagnosis. Through social media, Scotty has been able to find 45 of the 90 families. They talk about everything from therapies to treatments to activities to their children's daily activities.

"It's been a pretty fantastic journey as far as these connections that you can make," said Sims. "There has just got to be other people out there."

Dr. Cooper believes there could be thousands more children, who have KCNQ2, but haven't been diagnosed. In the meantime, Sims and Johnson are trying connect with the other 45 families. Some are even here in Colorado.


To find out more about Facebook commenting please read the
Conversation Guidelines and FAQs

Leave a Comment