International KAND Ambassadors

Alejandro Doval, and Maribel Saez are the Founders and Executive Directors of KIF1A.ES, Spain. Alejandro and Maribel are relentless in their passion to strengthen research initiatives, and develop our growing KAND community in Spain. They are key members of the KIF1A.ORG leadership team, and most important, parents to the mighty Mario. Visit the Spain website here: www.kif1a.es.

Audrey Guilmatre is the president and co-founder of KIF1A France. She is the mother to Hugo who was born in 2017 and diagnosed with KAND in 2020. She has a PhD in genetics. With a career in translational and clinical research and a passion for science, her goal is to develop research for KAND in France and to help families to participate in ongoing research projects. Together with the other members of KIF1A France, she also aims to support and inform French speaking families thanks to her scientific background and to communicate about KAND. Our relentless French speaking KAND community is growing. Visit our website: https://kif1a.fr

Emeline and Pierre Goaziou have participated in the creation of the KIF1A FRANCE association. They are parents to Ellie, an always smiling girl born in 2020 and diagnosed with KAND. They respectively volunteer as secretary and treasurer : they do their best to help newly diagnosed families and share info with non english speakers. With other members of KIF1A FRANCE, they advocate for KIF1A-related diseases being known better in France and to develop research initiatives in Europe. Visit the association website here: https://kif1a.fr

Hi!

This is just a brief introduction: I was very happy to find the KIF1A.ORG support group in 2019, when my son, very severely affected, was finally diagnosed with KAND at the age of 26. I remember how good it felt to finally not be completely alone.

Since then, the organization has been fantastically successful and I appreciate being able to help other German-speaking neighbors to find information on the illness.

By training a molecular biologist, I held jobs in research, science politics, product management, project management and science journalism. Now, I am now trying to get the best quality of life for my son and pursuing a nice work-life balance.

English:

Ennio is Alessandro’s father, a KIF1A Super-Hero born in 2018 and diagnosed with KAND in 2021.

He is happy to be meeting new families and talking about how to practically face KAND in Italy, taking care of our children while waiting for a cure.

While not being an expert but just a dad, he aims to understand scientific concepts related to KIF1A gene mutations and explaining them in “lay-mans” terms, in order to share knowledge in an easy and friendly way.

If you are an Italian interested in KIF1A and KAND, don’t hesitate to contact him and get in touch with the other Italian families!    

Italian:

“Ennio è il papa di Alessandro, un “Super Eroe KIF1A” nato nel 2018 e diagnosticato KAND nel 2021.

Ha piacere di incontrare nuove famiglie e parlare di come affrontare in modo pratico la KAND in Italia, per prendersi “cura” dei nostri bambini in attesa della “cura”.

Sebbene non sia un esperto, ma solo un papà, si propone di comprendere i concetti scientifici relativi al gene KIF1A e illustrarli in termini non tecnici, al fine di condividere le conoscenze in modo semplice e familiare.

Se sei interessato a/da mutazioni del gene KIF1A, non esitare a comunicare con lui ed entrare in contatto con le altre famiglie italiane!”

Aleksandra is primarily known as a mother to Mikołaj (https://www.kif1a.org/blog/mikolajs-superhero-story/), one of the KIF1A heroes in Poland, being the first diagnosed child in the country. She became part of the KIF1A community in 2018 and participated in person in both International KIF1A Conferences in 2019 and 2023.

With a medical degree, specializing in radiology and diagnostic imaging, Aleksandra brings a unique perspective to her role. Her career in medicine has equipped her with a deeper understanding of the challenges faced by individuals with rare diseases. She is dedicated to supporting Polish-speaking families, offering knowledge, sharing experiences, and providing guidance to newly diagnosed families. Additionally, she aims to bridge the language barrier by offering support and resources for non-English-speaking patients, together with her husband Maciej, Mikolaj’s father.

In her free time, Aleksandra enjoys traveling, skiing, meeting new people, and indulging her passion for painting, where she embraces her artistic side.

Feel free to reach out to Aleksandra if you need assistance or guidance. She is here to help whenever you need it.

My identical twin daughters’ Eleanor & Florence were diagnosed in 2015, aged 18, and are now 26 and living in Supported Living during the week with 24 hour care in Maidstone in Kent, 30 mins from our home and return home most weekends. Once a month they stay at their Supported Living home at the weekend to give some respite for myself and my husband.
Having lived through the UK “system” I hope to help those families in the UK navigate their own paths and have met with other families in London for lunches which we have all enjoyed, sharing experiences and stories.

Primarily, Gary is a father of Edward, Azalea and Oliver and a husband to wife Catherine.  He has been heavily involved in KIF1A.org since 2019, his motivation assisting to find a cure that will improve Edwards quality of life, but also wanting to help all the impacted people who have KIF1A so that it is permanently cured and the kids and families can live a normal life.

Gary lives in Bendigo, a small town in Victoria, Australia.  He liaises with local researchers in Australia at Murdoch Childrens Research Institute at the Royal Childrens Hospital in Melbourne and Childrens Medical Research Institute at Westmead Hospital in Sydney.  He also loves meeting new families and talking about the possibilities a future of a world where KIF1A no longer is an issue.  While not being an expert and is “just a dad”, he is good at understanding scientific terms and explaining them in “lay-mans” terms so that scientific messages can be better understood.

He is a board game lover and regularly travels internationally for board game events.  He is also known to pretend to be good at golf as well as enjoy watching Australian Rules Football.

Salima joined the KIF1a family support group in 2022 after her 17 year old daughter Sophia was diagnosed with KAND. She has worked part time in her career as a dentist alongside being a very involved and strong advocate for support, inclusion and therapy for Sophia. Her passion is to be able to do as much as possible to enable families and children with disabilities to access and participate as much as possible in daily life and help provide support to families facing the many challenges that present themselves. Having been on this journey for 17 years with Sophia, Salima has gained much insight into many aspects of daily living skills, social support and education and currently she is enrolling in a program to become a qualified rehab assistant. Salima is excited to both learn, grow  and contribute with the KIF1a organization.