Our laboratory performs full gene sequencing of MLL2 for Kabuki syndrome. The Kabuki Syndrome Network (KSN) is a support group for patients and families with Kabuki syndrome. Like many support groups, the inception of Kabuki Syndrome Network (KSN) was born out of the need to contact parents with similar challenges. When our daughter was diagnosed in 1994, Kabuki was still a newly described syndrome. Not only were support groups nonexistent, personal home computers were still in their infancy.
In the late 90’s, with internet speed, we began making contact with other families. As our numbers grew, so did our need to become an organized entity. Although our initial drive was to simply meet other families, the snow-ball effect led to the eventual registration of KSN as an official support group in Canada.
KSN is somewhat unique in that we are a registered non-profit charitable organization in Canada, yet we have members from all over the world, most living in the USA. In addition, although its founder/director lives in Canada, our newsletter editor and publisher live in the USA (each from different States). Such is the power of the internet. There are now four other official support groups for Kabuki syndrome in the world - Holland, France, Japan and Australia. Since English is a globally known language, KSN is often the first line-of-contact, in particular from Central and South America.
KSN has come a long way since 1997. We are firmly established in our support of parents; providing a bi-annual newsletter, a highly supportive email discussion group, and a recently updated website. We no longer require paid membership, as all information is now available online. However, we still have a long way to go. Becoming a charitable organization in Canada required acquiring co-directors that were not related to its founder, but due to personal obligations with their own families, they have requested to be ‘silent’ directors. We also do not have a Board of Directors. In addition, as there is no registered group in the USA, we are unable to issue income tax deduction receipts for donations from our American families.
Although KSN has worked in concert with past studies, we have not yet actively raised funds in support of research projects. We have tentative plans to take small steps in this direction. The recent discovery of the MLL2 gene as a causative factor for many individuals with Kabuki is an added incentive to move in this direction. There are still many individuals with all the classical presenting characteristics of Kabuki who do not have the MLL2 defect, which means there is still much research ahead of us!
Our vision for the future? If you were to ask parents, the answer would be that we could prevent Kabuki. But in the meantime, we hope future studies will give a more precise diagnosis and understanding of its characteristics, in particular feeding, neurological and behavior/sensory issues. We look forward to working alongside the many professionals involved with Kabuki!