Dear Parents,

Kabuki Syndrome Network (KSN) would like to welcome you to a network of parents. KSN's purpose is to act as both a source and an index of information on Kabuki syndrome and to provide a means of networking with one another. Members around the world are bridging the gaps, both literal and figural, that exist when families are faced with the diagnosis of a relatively unheard of, rare syndrome. Friendship, hope and a sense of community replace lonliness, fear and isolation when we reach out to one another.

Kabuki syndrome is a relatively newly described syndrome (1981) and is therefore still very much at the discovery stage. Because the syndrome encompasses such a wide variety of characteristics, having Kabuki will mean different things for different children/adults. However, with this in mind, we have found invaluable support from one another as we journey through the experiences of parenting a child with Kabuki!

Where and how do we find information on Kabuki? There are a number of sources:

There you will find lists of characteristics, common questions parents ask, a listing of genetic articles, a medical dictionary, an avenue to join a Kabuki email mailing list, an online Family Directory registration form, links to Kabuki-related sites, bulletin board, professional advisory group and the 'history' of KSN.

The articles are written mostly by geneticists. At present there are about 100, dating back to 1981 when Kabuki was first described in Japan. Although the terminology is quite medical, with the help of the online medical dictionary, they are decipherable, even by us laymen! There is a complete listing available at KSN's website and most of the titles are linked to online abstracts at PubMed. If you would like to read the entire article you must go to your local hospital's library or similar institution. Although most hospital libraries do not have all the journals, they should be able to obtain a photocopied version for you, or direct you to another library. The libraries of universities with Medical schools are also a good resource.

This is a free service provided by Yahoo (they use it as an avenue to advertise). Sending a message to the list means sending it to a central email address which in turn disseminates the message to the private email boxes of all the members of the list. The list produces many high quality letters from parents and professionals. Since its inception in May 1999, a wide range of topics have been discussed: from medical issues, to success stories, to frustrations, to joys. You may wish to browse through some of the archived letters! To join go to: http://www.dlcwest.com/~kabuki/discussion.html

The Kabuki Journal is designed and edited by Dawn Rocco from California. Dawn has a BA in Journalism/Advertising. Her parents, Mike and Grace Garrett who own Best Impression Printing in Merced, CA, have generously donated production costs. KSN's first newsletter was mailed in November 1999 and we are currently producing 2 issues per year. To receive the newsletter you must be a member of KSN.

KSN compiles an annual Family Directory which includes the family's name, address, etc, some of the major health issues faced by their child, and any therapies, treatments, etc that their child may be involved with. A copy of this directory is sent to each family within it. The directory is truly international with more than 100 members from over 15 countries worldwide!

We send an updated version once a year in June. To be included in the Family Directory you must be a member of KSN. Upon membership you can register for the family directory either online at: http://www.dlcwest.com/~kabuki/directory.html or by completing attached form and sending via regular mail.

 

There is information available at the Online Mendelian Inheritance in Man (OMIM) at the National Center for Biotechnology Information: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?147920

The Human Genome Mapping Project has a listing of Kabuki syndrome features at: http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?893

An article by Ann Haskins Olney, et al. from Ear, Nose & Throat Journal 77(9):734, 1998 http://matweb.hcuge.ch/matweb/Selected_images/Developmental_genetic_diseases/Kabuki_syndrome.htm

England's support group webpage: http://www.cafamily.org.uk/Direct/k10.html

 

We would like to invite you to become a member of Kabuki Syndrome Network. Simply fill out the attached form and send your check or money order to the address provided. As stated on the form, membership will provide you with:

In conclusion, Dr. Niikawa wrote KSN the following:

"Staff in my laboratory is making effort to clarify the cause of Kabuki

syndrome. I may send you a good news in a couple of years. Kabuki

syndrome is a genetic disease and may be due to chromosomal microdeletion

that involves several genes. This is the reason why the syndrome

represents a relatively wide clinical spectrum. Nowadays, once the disease

locus is mapped to a certain chromosomal region, the putative gene(s)

responsible for the syndrome can be isolated and analyzed with the newly

developed technique, positional cloning method. You can expect the

results."

We look forward to hearing from you again.

Kind regards,

Margot