Matt Lockwood - AUTHOR
Kleefstra mom, Julie Drake, joins IDefine as Director of Partnerships
Although IDefine was just founded in 2020, it has expanded its network globally, hosted conferences, connected with researchers and biotech firms, raised funding and formed important partnerships with organizations like Boston Children’s Hospital, AllStripes and RARE-X.
Given the rapid growth, IDefine needs more volunteers to sustain – and accelerate – its progress. The latest person to formally join the team is Julie Drake, a Kleefstra Syndrome mom from Naperville, Ill., who has agreed to serve as IDefine’s Director of Partnerships.
Julie, whose 15-year-old daughter, Amber, was diagnosed with KS in 2016, will work to maintain, leverage and grow current partnerships and work on identifying additional organizations and foundations to work with.
Following several conversations with Julie, IDefine CEO Geoff Rhyne was convinced she would be a great fit for the position.
“Julie has worked in several positions as a nurse, she has a degree in biology so she understands genetics, she has worked in an Alzheimer’s research lab and she has thoroughly documented her KS experiences with Amber,” said Geoff. “I think she is well positioned to help us maximize the value in our partnerships.”
Julie says, “I hope that with my knowledge and skills, I will be helpful in reaching out to these different organizations so that we can accelerate the development of treatments for KS. I want our children to be able to reach their full potential and live out their best possible lives.”
One of Julie’s first goals as Director of Partnerships is to encourage more KS families to share their children’s health information with AllStripes and RARE-X to show biotech firms and other organizations that IDefine is serious about making a difference.
Despite her willingness to step forward, Julie has more than a full plate at home. In addition to Amber, Julie and her husband, Ted, have two sons, 10-year-old Dimitri and five-year-old Nicky.
And, Amber recently endured a harrowing regression.
Now in 10th grade, Amber was doing well until 2020 when she began having abnormal body and eye movements. The worse the eye movements became, the more she regressed physically. It started becoming harder for Amber to eat and she lost 20 pounds, and then she gradually lost the ability to use her augmentative and alternative communication (AAC) talker. Then came the psychosis and hallucinations, and worst of all, the catatonia.
“It was terrifying. It was horrendous. It was the worst thing that we’ve gone through as a family.”
Thankfully, Amber snapped out of the catatonia and slowly has regained her other functionality. Despite warning signs in October of another regression, Amber is currently doing well and back in school after staying home all of last year.
“She loves high school. She’s really happy to be back in school and she loves seeing her friends and peer buddies. She also joined the adaptive cheerleading team this year, so she is having a fantastic time doing that.”
Julie quit working as a nurse to be able to care for Amber and take her to all of her appointments. It was a difficult decision after all of the schooling and the cost of tuition, but looking back, she knows it was the right decision for her family. It also freed her up just enough to volunteer with IDefine when her kids are in school.
“I’m really motivated. I don’t think any of our kids should have to go through what Amber has been through. Not even just what she’s been through, but all of the other things such as cardiac problems, gastro problems, cyclical vomiting, respiratory and sleep issues. All of our kids deserve to be able to participate in life as much as possible. I’m willing to do whatever I can to help give them that chance.”