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I was appointed Chief Executive of the Society for Mucopolysaccharide and Related Diseases (MPS) in 1993. During my time at MPS I have taken the charity to new heights, managing a research budget of over £500,000 per year and a unique UK-wide advocacy service providing needs led support to over 1200 children and adult sufferers, their families and professionals in areas of home adaptations, special educational needs, access to new therapies, respite care, palliative care and pre- and post-bereavement support. I have served on the Department of health Advisory Board on Genetic Testing and am currently the patient representative on the Department Of Health National Specialised Commissioning Advisory Group. Between 1984 and 1993 I was employed as National Development Officer at Contact a Family, a national UK charity. During this period I worked with parents and carers to set up over 300 patient support groups for a wide range of specific diseases. In 1991 with the help of a researcher I wrote the first edition of the Contact a Family Directory of Rare diseases and Support Networks which is now available on the internet. Previous to 1994 I spent four years living in Japan with my husband and then two children the eldest of whom was terminally ill with Hunter disease. During my husband’s tour of duty as First Secretary at the British Embassy I worked voluntary for Save the Children and the International Year of the Child where I organised the first diplomatic sponsored climb of Mount Fuji. I was awarded the Member of the British Empire for her services to Metabolic diseases by the Queen in the New Year’s Honours List for 2002 and at the 2006 International Symposium on Mucopolysaccharide and related diseases received ‘A Life Time Award’ from the International MPS Community.
I was born in 1963 in Missouri, a state in the middle of the U.S. I grew up on cattle ranches, a dairy and farms across the Midwest and western U.S. I have Fabry disease along with many family members. We have traced Fabry back to my grandfather’s grandmother. I am thankful for my supportive wife Debra and our two big boys. I am a founding member of FIN and am honoured to be a board member. I look forward to working with the wonderful FIN board to provide help to the Fabry community on a global level. I am also one of the founders and executive director of the Fabry Support & Information Group (FSIG) in the U.S. I believe my years of experience with FSIG will help in FIN’s objectives and I hope to gain beneficial knowledge from greater involvement in the international Fabry community.
My name is Anna Meriluoto and I live in the Helsinki area in Finland with my lovely teenage daughter. I work as a college teacher with a background in event production, marketing and PR.
I was diagnosed with Fabry disease in 1996 at the age of 28 along with my mother and my older brother. I consider myself to be the lucky one in the family since my Fabry symptoms are relatively mild and I have been able to lead a very normal life as a Fabry affected person: study, work and do sports. Therefore I am not receiving ERT unlike my mother (a heart patient) and brother (a kidney patient). I also feel very lucky because my daughter has not inherited this disease from me.
I have been an active member of the Finnish Fabry Association since its establishment in 2003. In Finland we only have 45 diagnosed patients so our need for international relations and co-operation is enormous.I was also actively involved in the founding of HARSO, the first ever Rare Disease Organisation in Finland in 2012. I first joined the FIN co-operation as the Finnish representative in Amsterdam in 2008. I see the role of FIN asa vital network between national patient organisations, pharmaceutical companies and other stakeholders. I feel honored to be a member of the FIN board along with my extremely competent colleagues from around the world. FIN has achieved great things already but there still remains a lot of work to do be done.
Everyday life with a life-threating chronic disease is not easy. In addition to the physical problems the disease can be mentally very challenging, both to the Fabry affected as well as their family members. Because of this the support groups on both national and international level are of utmost importance. We all need to get in contact with other affected people in order to get peer support, information and help. Sharing our individual stories and experiences provides us all with the best possible non-medical remedy.
Lut De Baere
The international landscape and working with all different stakeholders has no secrets for me. It’s very exciting to have been given the opportunity to work with the other, very skilled board members of FIN. I’m convinced that with a positive and constructive way of thinking and working, we can move many things for the best of all Fabry Patients. I have no family member diagnosed with Fabry Disease, but I think I can be a surplus for the board, because I know what is also happening within other diseases. I am the proud mother of two sons with methyl malonic academia (MMA)
I am the president, since 1994, of the Belgian patient organisation for all metabolic diseases (BOKS). Belgium is such a small country where it should be a waste of time, energy and money, if every metabolic disease should have their own association. There are not enough patients who suffer of each metabolic disease. I’m also the patient representative by the Foundation of rare diseases and OD’s. With this group of people, we prepared the National Plan for rare diseases in Belgium. The Belgian alliance of Eurordis, www.radiorg.be has as founder … me! So, I think I may say I’ve got experience in this matter. Together with the other FIN board members, we want to optimise the quality of life for the Fabry patients and their families. When you want to contact me, don’t hesitate to email me, and I will contact you, as soon as possible. Thanks for the trust, and I love to work for FIN!
My name is Mary Pavlou and I live in Athens Greece. My primary studies were in Nursing and now I just finish my Master in Health Care Services Management. I’m head of a Pathological department in a public hospital were I work for almost 20 years.
I was diagnosed with Fabry disease in 2001 along with my mother and brothers. I’m receiving ERT from 2006 due to kidney problems caused by Fabry. I am secretary of the Greek Lysosomal Association “Solidarity” since 2002 and an active member of the Greek Union of Rare Diseases. I feel lucky that there is a drug for my condition unlike some other chronic diseases even thought the problems are still much.
I feel extremely honoured to be a member of the FIN board and I will work for the coals and objectives of FIN. I strongly believe that global network between national patients associations, pharmaceutical companies and other stakeholders can work wonders both in information of the public, awareness of the public authorities and help for all the rare diseases community.
My name is Anne Grimsbo. I am 52 years old. I am married to Rune going on the 25th year. We have got two sons 19 and 21 years of age. They are not fabry affected, but I recieved prenatal diagnosis and had two pregnansies with male embryos with fabry, which were ended by abortions.
My father had fabry and he died from kidney insufficience by the age of 55. He had 6 siblings, 3 brothers and 3 sisters. Out of them two boys and two girls were fabry affected. One brother died at the age of 32 tied to a wheelchair.
I have two male cousins, one female cousin and a sister who are also fabry affected.
My fabry was discovered at the age of 7, at a time when I was sick with flu. During my fever attacks I had very strong pains in hands and feet. My parents told me, that it was because I had some of my fathers disease. But at that time no one knew very much about it.
I was properly diagnosed at the age of 16 with 24 hour urine sample, skin- and blod tests along with the rest of my family.
When I got pregnant at the age of 28 I contacted the danish fabry professor and he put me on prenatal diagnosis with the result as described above. At the age of 30 I had my first healthy boy, and at 32 the second.
Since about 2000 I started anual tests at the Rigshospital in Copenhagen checking all relevant parts of my body. In 2007 I was adviced by my professor to start treatment. I had ERT for two years and after 6 months break I entered the Facet study with the Migalastat chaperone tablets from Amicus. I am still taking Migalastat tablets, and it works fine for me.
I have never been much affected by fabry. By fever attacks, but not much into adulthood. At the age of 48 I had increasing heart arythmics and my autonomic nervesystem was affected.
I have always worked full time as a leader of kindergartens and other kinds of institutions for children. For the last four years I have been leader of 3 kindergartens and 30 daycare homes.
I swim, dance zumba and take long walks. I do get tired, but I live a fairly normal life.
My hopes for the future are that I will stay fairly healthy, get old, have grandchildren, and that my work in the fabry organizations nationally and internationally will make life easier for those affected by fabry.
I was born in 1985 in the second biggest city of Lithuania – Kaunas. During my early childhood when I was about 4 years old I started feeling ill from time to time and used to spend a lot of time in hospitals. This was a tiresome experience but on the other hand these days in hospital have shown me the way to medicine. After graduating high school, which was a real challenge for me due to many days of pain, I started studying medicine at Vilnius University and in 2011 I graduated and became a medical doctor. These years offered me some interesting and important changes. During and after two years of hemodialysis I received my Fabry disease diagnosis and treatment and also what seems to be the biggest relief – a kidney transplant in 2008. These new circumstances improved my life and opened up new possibilities. I graduated from medicine and forensic medicine and in 2012 started a law degree. In July 2018 I believe I will be holding a diploma in my hands. I should also mention my occupation in my alma mater Vilnius University Faculty of Medicine where I’ve been giving lectures on biochemistry for more than 5 years now.
My first Fabry patient meeting was 10 years ago in Munich. After that I attended more meetings and various conferences and I got more and more involved in the Fabry community. In October 2016 I became a board member of the Fabry International Network and am very proud of it. From the beginning I was the only diagnosed Fabry patient in Lithuania. Now I know that there are more than 10 of us.