Member: Patient Advocates

Monika Benson, Dystonia Europe

Monika Benson, ERN-RND patient advocate answers questions about her work as a patient advocate as well as her dystonia:

How I got involved in Dystonia Europe

“When I found out that I had dystonia, I thought I was the only person in the whole world with a twisted neck. The first time I attended a dystonia patient meeting and saw others who looked like me, I felt relief. Very soon I discovered that helping other dystonia patients also helped myself. We set up a support group in southern Sweden. Very soon I was elected to the board of the Swedish Dystonia Association. Being responsible of our international relations brought me to Dystonia Europe in Brussels. After being President of Dystonia Europe for 6 years, I am now working as Executive Director and find it exciting to work with the new board.”

How dystonia affected me 

“My first symptoms of dystonia came sneaking upon me with some pain in my neck and shoulder but I thought it was stress and a strained muscle. One evening as soon as I used my right hand my head turned to the left. I had to hold my head with my left hand to be able to write. I remember feeling scared, thinking: what is growing in my head?

Dystonia hit me when I had just turned 40, in the middle of a very busy life, working part-time for a school and raising my four daughters with all it involves. From being an active and happy mom I changed into a mom who had pain and stayed in bed. Fortunately a few months later my family doctor referred me to a neurologist and I was diagnosed with dystonia.

Treatment with botulinum toxin in the affected muscles was started. But the road to recovery was a lot more difficult. I had a lot of pain and felt like everybody was staring at me. I was feeling depressed and withdrew from social activities.

However I kept searching for more information and treatments available. The Swedish Dystonia Association recommended a physiotherapist specialised in dystonia. And she was my turning-point. When I stepped into her room she looked at me and said: “Monika you will be all right“. Now the pieces came together for my recovery. First of all I had the combination of treatments: injections of botulinum toxin and special physiotherapy. Secondly there was a team of people who believed in me and my recovery: my neurologist applying botulinum toxin; my physiotherapist who gave me exercises to handle my dystonia myself; my psychologist with whom I could share my worries; my family and friends; and last but not the least my dystonia “buddies“ in my local support group.

Today I focus on what I can do, not on what I cannot do.”

My advice to other patients and physicians 

“We are all individuals and what works for one person might not work for somebody else. For me it was very important to meet others with dystonia and to feel that you are not alone. It is also important to discuss treatment goals and expectations with the physician, maybe seek help from a physiotherapist or a psychologist. Involve your family and talk about what you are going through. Focus on the good and positive in spite of dystonia.”

Dystonia Europe’s role 

“Our 22 member organisations in 18 European countries perform an outstanding work to support dystonia patients across Europe. Our vision is better better quality of life for those living with dystonia and ultimately a cure and we hope to achieve that by focusing on the following activities: to raise awareness of dystonia, to inform and educate about dystonia and to promote research.”

My wishes for the future 

“I wish for better awareness among the general public to overcome stigma from society; better recognition of dystonia among the medical profession to speed up diagnosis; more research on the efficacy of physiotherapy and dystonia; access to correct treatment for everybody who need it; and more research for even better treatments, and one day hopefully a cure.

For me it was therefore also very important to be part of the patient network within ERN-RND. It is only by working together that we can achieve progress and change for our patient communities of rare neurological diseases.”

Cathalijne van Doorne, ataxia patient advocate

In this edition of “Meet the members”, we interviewed Cathalijne van Doorne who used to be an ERN-RND ePAG patient advocate. She told us a bit more about being a patient advocate and why it’s important to raise awareness of rare diseases.

About ten years ago I was diagnosed with a rare neurological disorder with the name ataxia. Many symptoms of ataxia can mimic those of being drunk – slurred speech, stumbling, falling, and incoordination.

My background as a medical biologist and my training by Eurordis gave me the tools to specialise in patient participation in research.

In 2018 I spoke at a meeting at the Euro Parliament about the outcomes from research that are most relevant to patients and how different those outcomes are from those chosen by other stakeholders. If you ask ataxia patients what they fear most, the majority will tell you that it is to loose the ability to speak or see. Researchers, however, choose the distance patients can walk. Since my talk I learned that a lot of pharma have adopted the ataxia example to educate their colleagues of the importance of patient involvement in their work.

It is really important to raise awareness about rare diseases. Patients experience stigma every day. My suggestion is to start small and begin close to your home. Explain your disorder to your neighbour, to the cashier of the supermarket, to the bakery, etc. My experience is that people are really nice, understanding and helpful when they are informed.

You are an ERN-RND full member or affiliated partner and would like to participate? Please contact us.

Mary Kearney, Friedreich’s Ataxia Research Alliance Ireland (FARA), Patient Advocate

In this edition of “Meet the members”, we interview Mary Kearney. She is patient advocate at the ERN since its initiation in 2016. Her work includes research commitment with Tallaght University Hospital, Dublin, teaching commitment with the Irish College of General Practitioners and Clinical commitment in general practice. In this interview, she provides an insight into the importance of patient advocates’ work, her many years of experience in the field of rare neurological diseases, and her expectations of the network.

Please briefly introduce yourself and your hospital.

My name is Mary Kearney, I am a patient advocate at the ERN since its initiation in 2016. My motivation to become involved stems from a personal interest in the rare neurological disease, Friedreich ataxia

Question 1: What is your profession (department, affiliation, etc.) and your medical expertise or specific field of interest/why?

I have a medical background in that I worked as a full-time general practitioner until 2016

Currently, my work includes:

a) Research commitment with Tallaght University Hospital, Dublin which involves the European Friedreich ataxia patient registry which is known as the European Friedreich Ataxia Consortium for Translational Studies (EFACTS). I am also the lead author of a Cochrane review on ‘Pharmacological treatments for Friedreich ataxia since 2010. This review is currently being updated.

b) Teaching commitment with the Irish College of General Practitioners. I organize educational events for my fellow general practitioners to keep them updated on the latest research relevant to general practice

c) Clinical commitment in general practice where I work as a general practitioner with special interest in Headaches

d) Patient advocacy at the European Reference Network for Rare Neurological Diseases (ERN-RND) where I am a volunteer and represent those with ataxia.

Question 2: What do you like most about your work at the ERN-RND and what is the biggest challenge specially in regards to working on rare diseases?

I think it is wonderful to have been the chance to represent people with rare disease. I feel I personally, have a unique view of a rare debilitating disease given the fact that I have personal experience and I am a general practitioner.

Given my experience in general practice, I understand that not ever Dr can know everything about rare diseases and often the important thing for the doctor to be able to do is to access information about rare diseases. I try to communicate this message to those with a rare disease but I am not always successful.

As patient advocates in an ever-changing European environment, it is difficult to assess if we are making a difference. We are asked for our opinion and I do feel it is respected and acted upon. I often feel I am representing general practitioners rather than patients when some issues are discussed. I have occasionally found that neurologists and researchers do not have a clear idea of the role of a general practitioner.

Question 3: How do you participate in ERN-RND? Can you tell us about your experience presenting a case via the CPMS?

As a patient advocate, I am not involved in this area at present. However, as Tallaght University Hospital, Dublin has recently joined the ERN-RND, it is an area I may become involved in. However, given my medical experience and my own personal situation, I feel getting the correct diagnosis for a neurological illness is very important. I have seen several neurological diseases mis-diagnosed. For example, I have seen Friedreich ataxia mis-diagnosed as Multiple Sclerosis; Multiple System Atrophy mis-diagnosed as Dementia.

Question 4: What are your expectations for the network?

I would love to think that rare disease could be cured but realistically, I hope that correct diagnosis can be made for those with neurological disease which make up 19% of all rare diseases.

I am glad to see neurologists, researchers sharing information and making care guidelines available publicly for those with rare diseases

Question 5:  How do you think patients and clinicians can work together/why do you think it is important?

I find the clinicians are respective of the patients’ opinion. I often feel by a patient being in the ERN meetings, even if they do not contribute verbally, they are observing and the clinicians are mindful of them being there and considering their work from a patient perspective.

Question 6: What would you wish in terms of educational activities or materials to be offered from ERN-RND, targeting patient advocates like yourself?

I look forward to the planned post graduate qualification in rare diseases and I would be interested in attending some of the sessions. In particular, I would like to understand and know more about genetic testing and how to interpret the results of whole genome sequencing

Is there anything else you would like to say?

As patient advocates, we have been asked to do ‘Patient Journey’ on the specific disease we represent. I feel this has been a worthwhile project as it highlights the difficulties as the patient sees them rather than the difficulties as the neurologist sees. It is a useful educational tool for those with the rare disease. In addition, it is an ideal tool for doctors who are not experts in the area, accident and emergency, general practitioners and other health care professionals.

Are you an ERN-RND full member or affiliated partner and would like to participate? Please contact us.