Dr Kirsten Johnson

Dr Kirsten Johnson is one of the founders of Fragile X International and is President of FraXI.

Kirsten joined the board of the UK Fragile X Society in 2016, and became Chair in 2018. She also sits on the board of EURORDIS, the European Rare Disease organisation, and is active on their Newborn Screening Working Group.

Kirsten was one of the co-authors of the 2022 Cells article which led to the renaming of the FMR1 gene and protein, removing offensive and outdated terminology (https://www.mdpi.com/2073-4409/11/6/1044/htm). She has also co-authored a 2020 article in Frontiers, on Fragile X Premutation Associated Conditions (https://www.frontiersin.org/articles/10.3389/fped.2020.00266/full).

Kirsten is a premutation carrier and has two adult daughters who live with Fragile X Syndrome. She works as a professional musician - more information on her work and recordings is here: www.kirstenjohnsonpiano.com.

Dr. Jörg Richstein

Dr. Jörg Richstein is the proud father of a 22 year old son with Fragile X Syndrome.
He studied Mathematics, receiving his doctoral degree at Justus-Liebig-University in Giessen/Germany.

During his time as a Killam Postdoctoral Fellow at Dalhousie University in Halifax/Canada, his son was diagnosed with Fragile X. After the family’s return to Europe, he became a member of the German National Fragile X Association, which he is leading since 2009. He worked on the board of the German National Rare Disease Alliance (ACHSE e.V.) from 2008 until 2019, being ACHSE’s president from 2016 until 2019. Jörg Richstein co-initiated the European Fragile X Network and was involved in the creation of Fragile X International, where he is currently serving as vice chair. Jörg is trying to spend as much time as possible promoting the rights of people with Fragile X Syndrome, both nationally and internationally. He is currently also chairing FraXI’s research committee.

Kristin Mulcock

My name is Kristin Mulcock and I am a board member of FraXI and Co-Chair of the Swiss Fragile X association FRAXAS since 2015. Our association joined the European Fragile X network in 2012, and taking part in our annual meetings really inspires me since then. I am a mother of 3 children, 2 boys (born in 1999 and 2006) and 1 girl (born in 2009). Both my boys have Fragile X Syndrome, but it affects them quite differently. Even though this diagnosis is a challenge for us as parents, we still realise how much joy and fun we have with and around our children, how many great people we have met through them, and how contagious their joy is in the little things in life. For me, the biggest challenge is the negative perception of people with special needs in our society and the one-sided focus on their limitations. Therefore, raising awareness and educating our fellow human beings is very close to my heart. If they dare to engage with our loved ones affected by Fragile X Syndrome, they may discover all by themselves how valuable and enriching they are.

Lidwien Bernsen

My name is Lidwien Bernsen and I live in the South of the Netherlands with my husband Geert. We have four children and two of them Stijn and Emiel have FX. They are 33 and 34 years old and live in our neighbourhood, so we see each other often. I am a retired GP and had my own practice for more than 30 years. In addition I was attached to the General Practitioner Training at the Radboud University in Nijmegen as head of the training

Joanna Kulisiak-Kazmierczak

Joanna is a PhD student at the Faculty of Pedagogy of the Lower Silesian University in Wrocsaw. Special educator, occupational therapist, President of the Foundation for People and Families with Fragile X Syndrome, Intellectual Disability and Autism Spectrum "Rodzina Fra X", PFON expert in the field of the Convention on the Rights of Persons with Disabilities. Instructor of the Scout Research Institute at the Headquarters of the Polish Scouting Association. Mother of two adult sons with fragile X syndrome. Research interests: family in the face of disability, people with disabilities in overcoming barriers and stereotypes, activation in non-governmental organizations, genotype and phenotype of fragile X syndrome in relation to other rare and pervasive developmental disorders.

Brendan Weight

Brendan lives in France with his family. He comes from a multicultural background: French, English and Irish. Brendan has a 20-year-old son with Fragile X Syndrome; they both share their love for rugby, having played and coached the game. Brendan has a business degree and worked in sales and project management in the IT industry for 25 years.

Brendan has been involved in Fragile X France since 2010 as a volunteer and since 2012 as treasurer and international contact. After joining the EFXN meetings in the early years, Brendon actively took part in the founding group to launch FraXI, where he currently chairs the International Relations Committee. His goal is to have as many associations as possible join our cause, and also to help families start a local fragile X organization in countries lacking them.

Françoise Goossens

Active since 2008 in the Belgian Fragile X association, Françoise Goossens has been appointed president of AXFB in 2020. She attended all international meetings of the European network starting in 2011 and was one of the founders of FraXI, through which FraXI was created in Brussels. As a Treasurer she takes over the financial and Belgian administrative aspects of the international non profit organisation.

Françoise is the mother of a Fragile X adult man. For more than 4 years she and her husband were looking for a correct diagnosis providing answers to the strange behaviour they observed with their son. They felt the diagnosis of fragile X syndrome as a relief in comparison to no diagnosis at all and further medical examinations.

Thanks to a former training in translation, she developed a multilingual glossary especially dedicated to Fragile X (EN - GE - FR). She currently works as a radioprotection officer in the radiopharmaceutical area.

Claudia Jesus (Portugal)

Linda Porali (Sweden)

Linda Porali has been the President of the Swedish fragile X organisation "Föreningen Fragile X" since 2021. Before that, she was head of communications and involved with the European Fragile X Network. Sweden is one of the founding members of FraXI and for a short time Linda served as secretary for FraXI.

Linda says, "I came in contact with fragile X and the "fragile X world" when our son got diagnosed in 2015. Shortly after, we were on a family week for fragile X at Ågrenska in Gothenburg, the national center for rare diseases in Sweden. There we met several members from the organisation, became members ourselves and my engagement within the organisation has gradually grown over the years. This is one of my true callings in life, I love the contact with our Swedish members and the international community within FraXI and the other organisations for rare diseases. Since I am a carrier of fragile X I try to educate and learn as much as I can of the different aspects of fragile X and try to spread the information and awareness regarding the diagnosis."

Linda lives in Gävle, on the East coast of Sweden, with her husband and two children. She has a degree in communications and is working to start up her own business in the book industry.

Eva Bryld (Denmark)

Linus Mulcock

My name is Linus Mulcock, and I am 23 years old. I live in Nyon, Switzerland, and I have Fragile X syndrome. I have a brother (also with Fragile X syndrome) and a sister. At the moment, I work in a packaging workshop that does packaging for pharmaceutical and cosmetic products. I really like the work and the social contacts there. In my free time I take part in swimming training for Special Olympics and enjoy taking public transport to Geneva and the surrounding area. I am a board member of the Swiss Fragile X association FRAXAS and an expert to the FraXI board. My commitment to FraXI and FRAXAS motivates me a lot, and I have been to many European Fragile X network meetings in the past. I want to help raise awareness of Fragile X Syndrome, because we are often misunderstood and not treated the way we would like to be.