Coming up big for Kleefstra Syndrome Down Under

Just over a year ago, we shared how after their daughter, Gabby, 4, was diagnosed with Kleefstra Syndrome, Vanessa and Simon Khoury of Sydney, Australia began pursuing the creation of a Kleefstra Clinic at Sydney Children’s Hospital.

That goal has been accomplished and 18 families – all but one from the eastern state of New South Wales – have now been seen by the clinic’s genetics team with two other families slated for appointments.

“It’s amazing,” said Vanessa. “We feel like we are really being heard since Gabby’s diagnosis and it means so much better care for families.”

Dr. Emma Palmer, a clinical geneticist at Sydney Children’s said, “We started the clinic as we saw how families were really struggling to get connected care, and also as we had heard from our colleagues at the Boston clinic that there were exciting clinical trials on the horizon, and we really wanted to get our families in the best possible position to participate in these trials in the future.”

This is exactly what Geoff Rhyne, IDefine CEO, envisioned when championing the idea of a network of Kleefstra Clinics.

 
 
 

Facebook campaign on Kleefstra Syndrome Awareness Day

Kleefstra Syndrome Awareness Day is celebrated throughout the KS community on Sept. 17, just one month from now.

The date is not random. It is Sept. 17 because people with KS have a mutation or deletion on chromosome 9 at 9q34.3. September is the ninth month of the year and Q is the 17th letter of the alphabet.

This year’s theme is empowerment. On KS Awareness Day, IDefine is asking people to share a picture of their KS loved one as their Facebook profile photo, and a KS Awareness Day cover photo that we will be providing.

We are also asking people to share a story of how their KS loved one has demonstrated empowerment in their life. For example, have they learned how to swim, added some new words to their vocabulary, or started a new school? This is a great opportunity to brag about them. 

Angelman syndrome sells its biotech company, shows the path 

Angelman syndrome is caused by deletion or abnormal expression of the UBE3A gene. Other than the gene that is affected, this rare genetic and neurological disorder is characterized by many of the same traits as those found in Kleefstra Syndrome. 

That's why it is exciting that the Foundation for Angelman Syndrome Therapeutics (FAST) has announced that Ultragenyx Pharmaceutical Inc. has exercised its exclusive option to acquire GeneTx Biotherapeutics LLC, a biotechnology company founded and launched by FAST.

"With the proceeds from the sale of its shares of GeneTx, FAST is now able to pledge millions of dollars to be used directly to supercharge numerous pathways and promising programs, and in the process enrich the entire landscape of AS-related therapeutic research."

This amazing accomplishment gives IDefine and other rare disease organizations a template to follow as we also search for therapies and a cure. 

 

 

 
 
 
 
 
 
 
 

Quick Clips on Kleefstra

  • State Proclamation Requests: To raise further awareness, we are asking that a family from each state request that their governor declare Sept. 17 as KS Awareness Day annually, by submitting this proclamation. These ceremonial documents can influence policy discussions, public awareness and offer opportunities to engage with elected representatives. To ensure we are coordinated, if you are interested in submitting on behalf of your state, please reach out at unlock@idefine.org  

  • Kleefstra Syndrome Census Project:  We are working to get an accurate count of the number of patients across the globe!  Join the Worldwide Map and be counted! 

  • Get Involved: IDefine is always eager to strengthen our team!  We need help with the website, graphic design and event planning. If you are interested in helping to push our initiatives forward, please reach out today at unlock@idefine.org.  Help define a new future!

 
 

IDefine, Inc
925B PEACHTREE STREET NE BOX 2173  | Atlanta, Georgia 30309
unlock@idefine.org

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