In this edition:

  • Internationally-known speech therapist talks Kleefstra Syndrome
  • IDefine joins other patient advocacy groups with AGENDA
  • Family Conference details!
  • Plus a roundup of other KS-related news

Internationally-known speech therapist may target KS

Professor Angela Morgan leads the speech and language group at the Murdoch Children's Research Institute in Melbourne, Australia and she is also a professor of speech pathology at the University of Melbourne.  

She says she never really thought about it until recently but looking back on her life it’s no surprise that she became a speech therapist and researcher. Her grandfather, father and brother had communication difficulties.

“That’s one reason I am quite passionate about communication and I’m sure one of the reasons I became a speech therapist,” said Angela. “Sometimes I think there is a genetic basis to communication problems in my family.”

Perhaps that is the underlying, driving factor in Angela and her team having identified 16 single genes that cause childhood apraxia of speech. Her team has also officially characterized the distinctive features of speech and language in children with a number of genetic conditions, including FOXP1- and FOXP2-related speech and language disorders, Kabuki syndrome, and Koolen de Vries Syndrome....


Alycia Halladay and her daughter, Sarah, who has autism

IDefine joins AGENDA 

“There is strength in numbers, yes, but even more so in collective good will. For those endeavors are supported by mighty forces unseen.” – Richelle E. Goodrich, author.

EHMT1, the compromised gene in Kleefstra Syndrome, has also been identified as a causative gene in autism spectrum disorder. Several other genetic syndromes are also known to be associated with autism.

That’s why IDefine has joined forces with more than 20 other patient advocacy groups in the Alliance for Genetic Etiologies in Neurodevelopmental Disorders and Autism (AGENDA). The group was founded about four years ago with five groups, but has grown as more disease groups have emerged.

The mission of AGENDA is to improve outcomes for individuals with all forms of autism by fostering a genetics-first approach to autism and neurodevelopmental disorders research, and by strengthening collaborations among organizations representing genetically-defined disorders associated with neurodevelopmental disorders and autism.

“Families with Kleefstra Syndrome are special, they are part of a family” says Alycia Halladay, chief science officer of the Autism Science Foundation and project manager of AGENDA. “But they should understand that they are also a part of a larger family of genetic diseases. Many share similarities, and we can help each other with awareness, working with pharmaceutical companies and identifying core things to do as a group so they can be done faster and more efficiently. There is strength in numbers.”

Since IDefine is actively involved in a number of areas in the rare disease space, Geoff Rhyne, CEO of IDefine, has been asked to join AGENDA’s executive committee.

“Geoff has great ideas and insights, and we’re thrilled that he will help us with our high-level decisions and priorities,” said Halladay.

Recently, AGENDA has been working on surveying the needs of families during COVID to find out what services are helpful, holding joint meetings on common features across disorders, looking into gastrointestinal issues in rare genetic disorders, and working with the National Society of Genetic Counselors to ensure that when families receive a rare diagnosis they are referred to patient advocacy groups rather than just a website.

AGENDA also facilitates collaboration on grants, maintenance and expansion of group registries, and improved communication to stakeholders around issues that common among genetic disorders.  

This joint cooperation avoids duplication of efforts and helps each organization focus on the families, rather than issues that are of concern across groups.


Family Conference Scheduled in June

We are excited to announce the 2022 Kleefstra Syndrome Family Conference.  

The theme of the conference is “Living in Holland” – a twist on the poem Welcome to Holland by EP Kingley.  This conference will focus on practical education and tips for families raising children and adults with KS.

Dates:  Evening of June 23rd – Midday June 25th

Location:  Lisle/Naperville Illinois (about 20 miles SW of Chicago O’Hare airport)

  • Topics:  Attendees will be able to choose from a list of interesting and helpful topics that may include:
    • Integrating Therapy Into Your Home Routine
    • Building Your Medical Team
    • IEP/Working with Schools
    • ABA Therapies
    • Sports & Recreation for Special Needs
    • Transition to Adulthood
    • Post High School Paths & Activities
    • Navigating Government Programs
    • Financial Supports for adults with KS
    • Keeping a Strong Partnership
    • Family Dynamics
    • Self Care for Parents

Childcare will be available for our children with KS and siblings.

Watch for more details and registration information that should be available by March 1, 2022.  If would like to help with the conference, please e-mail


Quick Clips on Kleefstra

  • Fundraising Report: IDefine raised over $350,000 during its first full calendar year of operations. This significant milestone was reached entirely through grassroots efforts and no industry partners. These funds are greatly appreciated and will be invested this year in identified research projects, supporting the KS Clinic at Boston Children's Hospital, the Family Conference and possible investment in a new multidisciplinary center of excellence.

  • Good Food, Great Cause: If you enjoy delicious BBQ, live music, libations, great company and experience the joy of coming together as a community for an amazing cause, then consider joining us for Southern Roots: A BBQ Reunion on Saturday, April 30, 2022 in Travelers Rest, South Carolina. Proceeds from the event will be benefiting IDefine!!   
  • Understanding Kleefstra Syndrome: As parents and caregivers, there are so many questions around why are loved ones with KS are impacted the way they are.  To provide clarity, we must aggregate the experience as much as possible through answering surveys and participating in data collections.  To be a part of the solution, we encourage you to enroll in RARE-X and All Stripes to drive improved care and research!  Click on them and help us reach our goal of 100 patients enrolled in each!  #KSStrong

IDefine, Inc
925B PEACHTREE STREET NE BOX 2173  | Atlanta, Georgia 30309

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