A day to highlight humanness, acknowledge progress

Since it was founded in 2008, Rare Disease Day has been observed on February 28 (or 29 in leap years) – the rarest day of the year. It’s a day meant to elevate awareness of rare diseases and the challenges that patients and their families face.

Ironically, according to a study done by RARE-X last year, due to advances in genetics and genetic testing, rare diseases are becoming less and less rare, making Rare Disease Day more and more important. There are now more than 10,000 rare diseases affecting more than 350 million people, or about 10% of the world’s population.

RARE-X, the patient data sharing platform – and Global Genes – the rare disease patient advocacy organization – completed a merger at the end of 2022.

Charlene Son Rigby, CEO of Global Genes and a rare disease parent, says to her Rare Disease Day is an opportunity to highlight the humanness of rare diseases.

“There's so much beauty in our children, like my daughter, and rare disease patients in our community, and I think it's really, really important for people to have visibility into that,” said Son Rigby.




Chief Scientific Officer Corner, Volume 2: 
ICD-10 Codes

Hello fellow members of our KS family!

For this newsletter, I’d like to talk about ICD-10 codes, and why we are currently applying to the Centers for Disease Control (CDC) to create an ICD-10 code for Kleefstra Syndrome (KS). If you aren’t in the medical field, you are probably saying “ICD what?” Don’t worry, I’ll take you through it.

Whenever you go to the doctor with an ailment, they will enter your diagnosis into a coding system that precisely defines what is wrong. These ICD1 codes allow for patients to easily be tracked and looked up in medical record systems. They are also used by insurance companies to help determine coverage that will be provided for interventions. The list of all available codes can easily be searched with a tool provided by the CDC.

To understand the importance of having a code (and since it’s winter) imagine you have an accident on the ski slopes. There’s already a code for that in ICD-10! But imagine there isn’t such a code. In that world, your doctor could only enter the symptoms you experienced: maybe headache, a sprain of your knee, a fracture, a chipped tooth, etc. All of the effects of your accident are then in the tracking system, but not the true cause.



Building a Brighter Future, Together:
ACE Fundraising Initiative

ACE: Activate Community Engagement. 

In last month's Impact Report, we stated our goal for 2023 is to "drive the science to drug development" through investment in at least two discovery phase projects focused on either ASO’s, gene therapy, or small molecules.  Our ACE fundraising initiative is our program to enable our community to raise critical funds to support IDefine’s mission.  Every ACE fundraising campaign can be assigned to any one of our 3 pillars of driving research, supporting the Kleefstra Clinic, or building community through opportunities like our conferences.

We understand that asking for money is not always easy, and everyone’s experience with fundraising is different. A great way to get started is by creating your own campaign page, which can make things feel both fun and personal. You can also start brainstorming event ideas that you think would resonate with your specific friends and family.  Organize a Bike Ride, a Walk, a 5k, a Gala, or a Big Cookout!  The options are truly endless!  All it takes is your commitment to do something--don’t be intimidated or nervous!

We are here if you need help with any of it. Please reach out to fundraising@idefine.org and we’ll support you in your effort!


Quick Clips on Kleefstra

  • Babiators "Every Day We Shine" Project: A big THANK YOU to the team at Babiators for featuring our community and effort via their "Every Day we Shine" Campaign.  Babiators raised $1,301 for us!  Here's a link to the feature: Babiators Instagram

  • Restaurant Fundraisers: With the Eat Justice Initiative being so successful, we are optimistic that others could easily join such an effort.  All we have to do is make the ask!   To give you the tools to do so, we have created an infographic outlining the opportunity and the steps to pull it off.  As always, don't hesitate to reach out for support!  Restaurant Charity Partnership Infographic

  • IDefine Slack Channel:  Interested in further connecting with IDefine and the Kleefstra community?  Join our IDefine Slack Channel!  

  • Sleep Study Enrollment:  We are looking for participants for an inventory study on sleep within Kleefstra syndrome. Anyone older than 3 years with Kleefstra syndrome can participate in this study. Participation is voluntary, and if interested, please reach out to sleep.gen@radboudumc.nl


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

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