Two associations, one battle
Chromosomes hold the genetic keys to all of the body's functions; disorders occur when there are errors on any of the body's 23 pairs of chromosomes.Some more common examples of chromosome abnormalities are broken or missing pieces, re-arranged material or too many pieces or copies. Symptoms vary from disorder to disorder and individually rare chromosome disorders are indeed very rare. “We began in 1984 as the Trisomy 9p support group but families affected by other rare chromosome disorders had no support and wished to join - hence the expansion to include all rare chromosome disorders in 1989. We now have about 6,000 member families in 72 countries,” explains Beverly Searle, Unique Chief Executive Officer. Unique is a charity based in UK whose mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.
The story of UniqueDanmark also starts with a particular chromosome disorder. Jette Ziegler's daughter, Julie, was diagnosed with Jacobsen syndrome (deletion on chromosome 11q) in 1992 when she was 3 weeks old. “We were told that very little information about this disorder was available and that no one else in Denmark was known with the same disorder. We signed up as contact persons for Jacobsen Syndrome with the Danish Information Center on Rare Diseases (CSH) but nothing happened for 5 years.” In 1997, Jette was contacted by a family in Holland interested in starting an association for 11q families and she travelled to Holland the following year. For the first time, she met other children just like her daughter Julie and also professionals who had actual knowledge about Jacobsen syndrome. There, she also came to know about and join Unique as a member and picked up the idea about setting up an organisation to include all rare chromosome disorders in Denmark. The first meeting of UniqueDanmark was in 2000.
Building a strong community of rare diseases is a daily battle but when the symptoms and patients' quality of life are so different under the common title of chromosome disorders, the battle can be much harder. Unique has created an innovative and comprehensive members' database with the natural histories of thousands of different rare chromosome disorders. Along with the personalised service Unique offers, this database, according to Beverly Searle, is really the glue of the community. “It allows us to match families not only on the basis of specific rare chromosome disorders but also on the basis of shared experience, specific symptoms, treatments for individual symptoms, therapies, social and educational problems and even geographical location, regardless of specific chromosome disorder.” For Jette Ziegler, personal contact is the biggest asset of UniqueDanmark. “I know I can't give specific help like other support groups. But in our organisation, there are at least 75 families having more or less the same challenges and they know that they can contact any other family at any time. We have the same worries and sorrows but we also feel extremely happy for every little step forward we see in our children.”
Like all rare diseases, a person living with a chromosome disorder has to face the usual hurdles: lack of information, isolation, lack of awareness even among the medical community sometimes. Both organisations, according to their own capabilities, try to ease these difficulties. UniqueDanmark a year ago published a short book about Chromosome Disorders written by a specialised MD in chromosome disorders. “The book is for parents and other professionals excluding doctors. It is very easily readable by any parent and with contact details that may help them. Actually the book is now very popular among parents and also teachers who have children with rare chromosome disorders in their class,” says Jette Ziegler. As for Unique, besides their existing database and their extensive range of family-friendly information booklets, they are launching a “Beating the isolation” project this year. “We will go out to all corners of the UK and beyond to spread the word about rare chromosome disorders, not only to ‘find' hidden families isolated by their rare chromosome disorders but also to raise awareness among non-genetics professionals and the general public about the challenges rare chromosome disorders bring to our families,” explains Beverly Searle.
The support of researchers and the health sector is perceived differently on both sides. Beverly Searle thinks that the genetics professionals “have gone out of their way to help.” Jette Ziegler feels that for health professionals often “learning more about a rare chromosome disorder is considered a waste of time.” For both organisations, fundraising is a difficult issue. UniqueDanmark applies for funds to support their two annual events - a week-end for parents with a topic of common interest and a ‘have fun and relaxed' week-end for the families. Fortunately the Danish organisation has been granted financial support to 85% of the amount they applied for in 2008, but Jette Ziegler would wish to organise week-ends with more than that: “I get funding for basic accommodation but I would love to set up events where children could be looked after by professional carers at the same location.”
For Beverly Searle, organisations have to be ever more creative and resourceful at raising funds in a very competitive climate. But she can count on the support of the member families: “A sizeable proportion of our funds is raised each year by our highly supportive member families and professionals through all sorts of means, for example by running sponsored marathons or forgoing birthday, wedding and Christmas presents and asking for money to be donated to Unique instead.” In fact, last year Unique received the most votes in the Royal Bank of Scotland's Children's Charity Give-Away and was awarded the top prize of ₤100,000!
This article was first published in the April 2008 issue of the EURORDIS newsletter
Author: Nathacha Appanah
Photo credits: Henrik © Clint Dickson/Eurordis; Julie © Zielgler; Victor © Ingemar Hägg/Eurordis, Jette Ziegler © Ziegler; Beverly Searle © Searle