How many people have Kabuki syndrome?

You can help answer that question!

If you have Kabuki syndrome or are a caregiver for someone with Kabuki syndrome, join the Count by filling out the three-minute form below.

Make a difference today and show the strength of our global community.

STRENGTH IN NUMBERS

Kabuki Count is the fastest way to show our potential partners the number of families they can impact.

The more individuals with Kabuki syndrome we can document, the more attractive our rare disease becomes to pharmaceutical companies, biotech firms, research institutions, clinicians, government funding, and donors — all of whom we need to move treatments forward!

We are proud to be a worldwide network of families and organizations interested in helping people with Kabuki syndrome live their best lives.

Complete the simple three-minute form below and be counted!

0
PEOPLE WITH KABUKI SYNDROME
0
COUNTRIES

Explore the power of our collective data, plus insights on age and sex!

Statistics & map last updated 8th July 2024, 11:00 GMT.

WHO IS INVOLVED?

A global collection of patient advocacy groups, led by the Kabuki Syndrome Foundation, have partnered to ensure Kabuki syndrome is not left behind as scientific research advances. Rare disease research only moves forward if the community is proven to be active, collaborative, and global. Together, we are advocating for people with Kabuki syndrome and asking you to join us in Kabuki Count.

Who should fill out the Kabuki Count form?

You may fill this form out if you are:

1. A parent or primary caregiver to someone with Kabuki syndrome
OR
2. Over the age of 16 and have been diagnosed with Kabuki syndrome.

Kabuki Count: The Global Kabuki Syndrome Census
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1. Please tell us how you are connected to Kabuki syndrome:

FREQUENTLY ASKED QUESTIONS

I feel like I’ve provided this information before. Do I need to do this?

Yes! Please do complete this new form, providing as much information as you know. We know filling out forms can be tedious, but the Kabuki Count form has been designed to capture specific details that will benefit the community and our research partners. We need everyone to participate!

What is Kabuki Count? And what is it not?

Kabuki Count IS:

  • A global census for people with Kabuki syndrome and is the best way for the global Kabuki syndrome community to come together.
  • A tool to help identify more people who have KS.
  • A central place that shows how many people globally have Kabuki syndrome in different countries and subgroups like ethnicity and age.
  • One way members of our community can be contacted to participate in research and clinical trials.
  • The fastest and easiest way to drive research. Kabuki Count was built to have as few barriers as possible and be sustainable as our community grows. The results will be kept up-to-date and able to be viewed by the community and our research partners.

Kabuki Count is NOT:

  • A public display of your information. Your name will never be displayed or shared publicly.
  • A patient registry. NO long surveys or medical records are required.

Why is Kabuki Count important?

The more people we can identify with Kabuki syndrome, the more powerful we can be in finding treatments because there is power in numbers.

This global census helps advance research by showing that we are one connected, global community supported by multiple advocacy groups. Kabuki Count demonstrates that we have a network of families worldwide that are interested in helping individuals with Kabuki syndrome live their best lives.

How is my data used?

Your identifiable data will never be shared or sold to a third-party. The information you provide is used to display generalized information, as illustrated above, and by the Kabuki Syndrome Foundation to share research-related information with you. By submitting your information you are opting in to receiving research-related communications.

Why is this data collected?

The zip or country code of the person with Kabuki syndrome helps determine locations for future centers of excellence, clinical trials, and in-person gatherings for families and for research. We can also see who we haven’t connected with yet and find ways to reach them too.

The year the person with Kabuki syndrome was born allows us to estimate how many people have Kabuki syndrome in a given age range, which informs research and potential treatment partners how many people could participate in studies that have specific age parameters.

Collecting the race and ethnicity of the person with Kabuki syndrome demonstrates that Kabuki syndrome occurs in all populations. We can also learn more about who may be missing or areas that are under-diagnosed or otherwise underrepresented.

The diagnosis type (clinical, KMT2D, KDM6A, or other) and mutation type (missense or nonsense) are collected because this information is useful to researchers and pharmaceutical partners as they study this condition and explore treatments. If you don’t know what type of diagnosis or mutation you/your child has, that’s okay. Please complete the form to the best of your ability. You can update your data at any time by submitting the form again.

How does Kabuki Count advance research?

We need to show the size of our organized community so we can attract the best and brightest partners. Researchers, pharmaceutical, and biotech companies all ask the same thing, and maybe you’ve heard it too: how many people have Kabuki syndrome?

To be able to clearly say: we are here and we are ready to change lives is one of the best things we can do as a global community.

As we drive awareness and increase access to improved diagnostic testing, more people will sign up and Kabuki Count will become more accurate. We are truly stronger together.

What is the latest news on research and finding treatments?

The Kabuki Syndrome Foundation is unlocking the brightest futures possible by driving Kabuki syndrome research to treatments. LEAP is our roadmap to finding treatments for Kabuki syndrome faster. We have raised over $2 million dollars and launched several programs to support LEAP so far! Learn more and discover how you can help accelerate life-changing research.

My family member has Kabuki syndrome. Can I fill out this form?

This form is to be completed by parents/primary caregivers and adults with Kabuki syndrome (age 16 and over) ONLY. If you share this role, please check in with other caregivers to avoid duplication.

What if we don’t know our official diagnosis yet?

If you are waiting for genetic testing results, don’t have a genetically confirmed diagnosis, or are diagnosed with a mutation on KMT2D or KDM6A that is not Kabuki syndrome, you are still welcome here. Please complete the form to the best of your ability and use the “I don’t know” option as needed. You can update your data at any time by submitting the form again.

If you want more information on how to pursue a diagnosis, please contact us.

How long does it take to fill out the Kabuki Count form?

It takes about 3 minutes to fill out the form.

How do I update my diagnosis or location?

Please complete the form again. Don’t worry, you won’t be “counted” twice. You can contact us with any questions. Thank you for your commitment to accelerating research with the Kabuki syndrome community.

Can I use Kabuki Count to find others in my region?

Your local patient advocacy group’s website or page is the best place to connect with others. You can also explore the global private Facebook group. Privacy is priority, and your private information will not be shared with others if you sign up for Kabuki Count.

How often do I need to complete this form?

A good rule of thumb: every year on the birthday of the person with Kabuki syndrome. We do ask that you complete this form if you move, receive a new diagnosis, have information such as missense or nonsense to add, or aren’t sure if you have signed up. We invite you to use the birthday as a reminder to make sure your information is up to date.

How do I find out if my mutation is missense, nonsense, or something else?

Your best resource is a genetic counselor. These professionals often work with geneticists and can help you understand your genetic report best.

I have two or more people in my family with Kabuki syndrome. What should I do?

Please contact us so we can help you be counted.

Are you a patient advocacy group leader?

You can join us as a global partner and activate your community. As a leader, you are key in connecting families to research and opportunities. Contact us today.

Think these numbers should be higher?

We do too! We’re all working together to reach as many people with Kabuki syndrome as possible. As we drive awareness, increase access to testing, and improve the diagnostic process, more people will sign up, leading to increased accuracy for Kabuki Count.

Feel like your country or community isn’t accurately represented? We’d love to hear from you. You can also share this page with your network. We can make this number as powerful as possible together.

I have more questions.

Please contact us. We’re happy to help you. If you have lost a loved one who had Kabuki syndrome, please let us know. Everyone COUNTS and can support the Kabuki syndrome community.

Are you ready to add your name to #KabukiCount?

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