Our missions
- to raise awareness of the syndrome amongst healthcare professionals and general public
- to support medical research programs
- to constantly inform about the medical treatments and different therapies capable of bringing comfort to the patients
- to practically help families through advice, support , actions and financial support
- to organize fundraisers and find sponsors
Our history
A team of geneticists, Marie-Françoise Croquette and Bruno Delobel, doctors from Saint-Antoine Hospital in Lille, decided in 1997 to gather 10 families all having children with the “Smith-Magenis” syndrome.
June 28th 1998, 10 families whose children have the syndrome met at Necker Hospital surrounded by Marie-Christine DeBlois (cytogeneticist), Hélène De Leersnyder (sleep specialist), Marie-Christine Nolen (Professor Arnold Munnich psychological specialist) and Doctor Marie-Françoise Croquette (geneticist).
One year later, ASM 17 was born and a first information leaflet was developed ; it will be for families, their relatives and the medical community.
In March 1999, the first association’s board met in Marcais (Cher), in an emotional and unique opportunity to share. This was the first get together of our children.
Since then many children were diagnosed in France and almost 75 of them made themselves known to the ASM 17 ; which confirmed founder parents in thinking that this disease is underdiagnosed and that the focus should be on information and seeking the adequate specialists.
Some Key dates
Doctor Deblois and Doctor De Leersnyder, were the first to focus on sleeping disorders specifically linked to Smith Magenis.
Between February 1999 and May 2001, 10 children participated in a trial at NECKER Hospital (Paris), which aimed to understand and balance the circadian rhythm of children and to adapt treatment.
Since 2000, the ASM17 joined ALLIANCE MALADIES RARES and participated in the march of rare diseases during the Telethon. In 2001, Dr. H. Leersnyder went on television to present the syndrome and the results of the research on sleeping disorders.
Beginning of 2002, other investigations were carried out in the brain.
November 2002, a second research protocol began with the financial support of SERVIER laboratories to test a new treatment that would not only have the same effects as the previous but would in addition act on the mood swings.
In April 2003, two doctors of the INSERM laboratory in Lille conducted a study on the genes included in the deletion of chromosome 17, the cause of the Smith Magenis syndrome. This deletion is not the same for all, which could explain the differences in the symptoms presented by children.
In 2004, ASM17 contributed financially to the continuation of the research.
July 17th 2004, the association participated in the television show, “Fort Boyard”, which helped a lot to create awareness around the syndrome.
In 2005, ASM17 cooperated with Mrs. Smith (American geneticist) in collecting data from parents on their child’s growth curve. This study helped to establish an average growth curve for Smith Magenis children and to compare with children from other countries.
April 30th – May 1st 2005, Mrs Frours (parent) and Dr De Leersnyder attended a Congress in Cincinnati.
Helene De Leersnyder presented her research project at Robert Debré Hospital, with the approval of Professor Verloes, "psychological study of language in the Smith-Magenis syndrome". Karen Hernandez, psychologist, who studied the language and memory in adults will work with children and adults having Smith Magenis syndrome.
In February 2006
« Le magazine de la santé sur France 5 » conducted a story on Smith Magenis syndrome. The psychological study carries on children and adolescents 6 to 18 years. Research on orthodontics are considered, because many children could benefit from it.
Flagship activities
In parallel with the association’s first years, many parents, friends and relatives invested themselves in various events. This helped the syndrome to be known and recognized in the education, leisure and family environment.
2012 initiated one of the flagship initiatives of the association : the organization of trainings on parental guidance and personal coaching for the families.
2015 was an eventful year for the production of tools available to families and professionals (identity card, USB key, care and emergency cards).
The booklet on "The patient leaflet dedicated to the intimate, emotional and sexual life for children, teenagers and adults Smith Magenis syndrome" was published the same year.
This booklet, written in association with Sheila Warenboug, is translated into English in 2016.. A fundamental booklet of medical and practical guidance is put together with the help of Dr De Leersnyder and also published in 2016.
International links
Since 2012, links have been strengthened with international associations : ASM17 was represented at the US 7th international conference on Smith Magenis Syndrome (PRISMS) in Denver (USA).
In 2013, Ann Smith and Sarah Elsea, two prominent researchers, joined the ASM17 Annual Assembly to celebrate the 15th anniversary of the Association. That same year, the Association was represented at the conference of the British Association, Smith Magenis Syndrome UK, in Birmingham.
In 2014 and 2016, the Association was again represented at the international conference in St. Louis PRISMS, continuing developing international ties.
At the end of the 2016 meeting, the ASM17 association signed a partnership agreement with PRISMS to promote the actions of each association in the other country and facilitate the access to the information and the conferences.
Board Members
President : Michèle AUZIAS - michele.auzias@gmail.com - +33 6 10 66 44 74
Vice-President : Marie-Christine BOMME - famille-bomme@wanadoo.fr - +33 6 08 01 37 46
Vice-President : Marie SCHMITT - geicko67@yahoo.ca - +33 6 70 68 94 19
Secretary : Marielle GUNTZBURGER - guntz@free.fr - +33 6 50 24 45 00
Joint-secretary : Brigitte BRAUN - brigitte.braun78@gmail.com - +33 6 80 64 70 58
Treasurer : Lionel GOUTOULLI – asm17.tresorier@gmail.com - +33 6 88 55 43 92
Joint-treasurer : Christophe APPERT - appert.christophe@orange.fr - +33 6 31 40 94 02
International Contacts :
Italy – Spain : Anna MELE – mele.anna@gmail.com - +33 6 87 53 77 62