In this edition:

  • Meet Bianca Mitchell, a resilient KS Mom determined to advocate for her daughter, Lauren
  • "It Takes A Village" Launch this Saturday!
  • Parents have the power!
  • Plus a roundup of other KS-related feel-good news

Maryland mom shares story of struggles as daughter ages

When Bianca Mitchell, a school administrator in Maryland, tells the story of her and her husband, Shon’s, diagnostic odyssey, it’s all too familiar.

For the first couple years after birth, doctors attributed their daughter Lauren’s challenges to hypogenesis of the corpus callosum, or a short brain stem. A genetic test in 2009 was not yet sophisticated enough to identify Kleefstra Syndrome. Then, after three more years of persistence, a second genetic test, when Lauren was 12, finally put a name to her struggles.

Despite the fact Lauren is nonverbal, has mild hearing loss in both ears and struggles with depth perception, she is enrolled in the Kennedy Krieger Institute in Baltimore — one of best schools in country for children with intellectual disabilities — and she is happy.

“She is good at communicating with you,” says Bianca. “She has her own style. She can be very bossy. If she goes to your house, she will go to the pantry and find the oatmeal and she will find a bathroom and she will turn on the bathtub.

“Everybody loves her, I’m only popular because of her. If I don’t bring Lauren with me to church, everybody is like ‘well, where’s Lauren?’”

However, it tears at Bianca’s heart that Lauren does not have any social friends her own age.

Read more


"It Takes A Village" Launch

A collaboration between IDefine and is set to launch this Saturday, August 14th, at 11am EST/4pm GMT.  Our "It Takes A Village" series will be a virtual gathering for families of those impacted by Kleefstra Syndrome AND other rare disorders.  The series will feature experts and families discussing therapeutic strategies, the "rare" journey, and other topics of interest.  Additionally, we will be holding quarterly "Town Hall" meetings to engage and build community.  Your input matters, and we want to create opportunities for open discussion so that we then may amplify the collective voice of the community!

Our first gathering will feature "An Introduction to Sensory Processing Differences," delivered by Laura Graham, Occupational Therapist and Advanced Practitioner in Sensory Integration UK. Register in the link below!

Patient Empowerment with Data Sharing

Data is always the basis for any new therapeutics. That is why collecting data is so important, and we can all help!

The Kleefstra Syndrome community is currently involved in three platforms devoted for data management of rare diseases.  These complimentary entities are currently aggregating information about KS: All Stripes, GenIDA, and Rare-X. 

Because Kleefstra Syndrome is so rare, it’s necessary that data is aggregated and analyzed globally.  We know that language is a barrier, as not all parents speak English, and we applaud and thank those KS caregivers who offered help previously by helping translate the GenIDA survey into 8 languages.

Help is still needed – please spread the word about data collecting to other KS parents and then help other KS parents, who do not feel comfortable to fill in the questionnaire. United we can really bring this community to a higher level and achieve a better future for our kids.


Quick Clips on Kleefstra

  • THANK YOU! Shout out to Tina Neubaeur for raising over $3,000 in honor of her daughter Ally's graduation! 
  • RISE ABOVE FOR KLEEFSTRA SYNDROME AWARENESS DAY!  We are 35 days away from OUR BIG DAY! We have 13 teams fundraising and approaching 100 attendees.  Join the celebration!
  • KNOWLEDGE IS POWER: : Follow the Kleefstra Syndrome Meta Feed for the latest research articles!

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