OLD SAYBROOK, Conn. (WTNH) — Every day is Rare Disease Day for the Leopoldino family in Old Saybrook. When Avery Leopoldino was just 6 weeks old she started having seizures. Her parents thought she had epilepsy and that it could be treated.
Sadly, a two-year search revealed that Avery has a rare genetic mutation and disease called CDKL5.
Avery’s family immediately sprung into action, uniting with other families across the country and the world. They all understand what the other families are going through on a daily basis.
“She does have daily seizures, she has no use of her hands. She doesn’t walk or talk but she’s otherwise healthy and loving and a big part of this family,” said Avery’s father Mark.
Avery’s parents, sister and extended family have been tremendous crusaders and fundraisers over the years through advocacy. In the earlier days, they held many fundraisers and got the word out through the Facebook page Team Avery.
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Mark said that Rare Disease Day is a positive chance to highlight the hard work done by parents, scientists, doctors and those who support rare disease research. They all want to see a cure.
There are more than 700 rare diseases, but 90% of them have no approved treatment.
Avery and kids like her now have a glimmer of hope.
“In the last 7 years, we’ve become one of the top five rare diseases going to clinical trials for a cure. We have some amazing stuff going on all over the world with amazing families and teams of doctors and scientists,” Mark said.
You can watch the full interview with Mark and Avery Leopoldino in the video player above.