IDefine is a nonprofit organization dedicated to discovering life-changing treatments and cures for those with intellectual disabilities stemming from genetic disorders.
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Newly diagnosed
If your child or someone you love has just been diagnosed with Kleefstra syndrome, please know this: you are not alone. You have found a community that understands how overwhelming this moment feels, a foundation started by parents who have been exactly here, and a clear set of next steps. Take a deep breath. We will walk this together.
Before anything else
Kleefstra syndrome is a rare genetic condition caused by a missing or changed copy of the EHMT1 gene. It commonly involves intellectual disability, low muscle tone, delayed speech, and distinctive features. It ranges from mild to severe, and every child is their own person.
A 2026 international clinical guideline spells out exactly what to check and when, a dedicated Kleefstra clinic at Boston Children’s Hospital sees families from everywhere, and Kleefstra syndrome has its own diagnosis code, Q87.86. You do not have to invent the plan.
IDefine funds gene therapy, RNA, and drug-repurposing research aimed at treating Kleefstra syndrome itself. More than 1,100 people with KS are on the Kleefstra world map. Research moves because families like yours join in.
Since October 1, 2024, Kleefstra syndrome has had a dedicated diagnosis code in the United States, after IDefine families made the case to the CDC. It sounds like paperwork, but it is how insurers recognize the diagnosis, how researchers count how many people have KS, and how future clinical trials find families. Ask every provider to put Q87.86 in your child’s chart. Print the wallet card and keep one in your bag.
This month
You do not have to do all of these this week. Do them in order, at your pace, and ask us about any of them.
For your child’s care
For you, with IDefine
The first 6–12 months
The full month-by-month guide is below as a download. Here is the shape of it: what to do now, and what can wait.
Research you can join
Treatments for rare conditions get built on data. Every family that registers makes Kleefstra syndrome more visible to researchers, regulators, and companies deciding where to invest.
IDefine’s records partner, free for Kleefstra families. Ari gathers and organizes your child’s medical records and, with your permission, shares de-identified data with Kleefstra researchers. Getting organized and being counted in one step.
Get started, freeA long-running international registry for genetic neurodevelopmental conditions with an EHMT1 community. Surveys, an optional blood sample, and updates on findings.
Join the EHMT1 communityA family-owned data platform where you complete structured surveys about your child’s health and development that researchers can access.
Register with RARE-XIDefine believes intellectual disability disorders are treatable. These are the active programs and how families take part. All research updates
| Program | What it is | How families participate |
|---|---|---|
| Natural History StudyBoston Children’s Hospital | A three-year longitudinal study gathering standardized data on how Kleefstra syndrome presents and changes over time. | Enroll through the Kleefstra Syndrome Clinic. |
| Gene therapyUT Southwestern | A two-year program led by Steven Gray, PhD, evaluating EHMT1 gene replacement using next-generation delivery to the central nervous system. | Follow updates; registry data supports trial readiness. |
| RNA upregulationUniversity of Chicago | Targeted activators that “turn up” the remaining working copy of EHMT1, from the Bryan Dickinson lab. | Follow the CSO Corner and newsletter. |
| “mRNA boosters”Johns Hopkins | A multi-foundation collaboration led by Jeff Coller, PhD, testing an RNA platform that boosts gene expression in haploinsufficiency disorders using patient-derived cell models. | Follow updates. |
| Drug repurposingUnravel Biosciences | An AI-driven collaboration building “Living Molecular Twins” from patient RNA to screen tens of thousands of existing medicines. | Families anywhere can contribute a non-invasive nasal-swab RNA sample. |
| Neural organoidsUC San Diego | Dr. Angels Almenar-Queralt’s lab grows brain-like cell models from IDefine-developed stem-cell lines to understand KS and screen treatments. | Follow updates; IDefine’s cell lines are shared with researchers. |
Your IDefine community
IDefine is run by families. Every program above exists because a parent made a phone call, hosted an event, or gave what they could. When you are ready, and only then, here is how to join in.
One-on-one with a parent, the private caregiver groups (including regional groups and an “All Grown Up” group), the world map, and the annual Family Conference and Scientific Summit.
Caregiver communityIDefine has no large staff; it has parents with skills. Writing, social media, fundraising, events, data, translation, representing IDefine at a conference: whatever you are good at, there is a place for it.
Tell us what you’re good atStart a campaign for a birthday or a diagnosis anniversary, host or join an event, or ask your employer about matching gifts. IDefine provides the page, the materials, and the support.
Start a campaignSeptember 17 is Kleefstra Syndrome Awareness Day. Share your story, ask your state for a proclamation, and give directly, including stock, crypto, and donor-advised funds.
Donate now
Take it with you
Print them, share them with grandparents, hand them to your pediatrician. Both are dated on the cover; the versions here are always the current ones.