Country: Netherlands

In this edition of “Meet the members”, we interview Jorik Nonnekes, consultant in rehabilitation medicine at the Radboud University Medical Centre and Sint Maartenskliniek, the Netherlands. He will tell us a bit more about his work in the hospital, within ERN-RND and his expectations for the network.

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

My name is Jorik Nonnekes and I work as a consultant in rehabilitation medicine at the Radboud University Medical Centre and Sint Maartenskliniek, both located in Nijmegen, the Netherlands. Both my clinical and scientific work focuses on gait and balance impairments in people with neurological diseases, with specific emphasis on gait impairments in Parkinson’s disease, rare and inherited movement disorders (hereditary spastic paraplegia and spinocerebellar ataxia) and stroke. My aim to improve the quality of life of people with gait impairments is the drive behind my work.

2. What do you like most about your work and what is the biggest challenge specially in regards to working on rare diseases?

I do love the combination of clinical and scientific work. On the same day I try to provide the best possible care for a person with a rare neurological disorder (e.g. hereditary spastic paraplegia), while also being involved in exciting studies that aim to further improve clinical care for these people in the near future. As there is so much heterogeneity in rare neurological disease, the biggest challenge is to personalize treatment, and to translate this personalized approach into scientific studies.

3. How do you participate in ERN-RND?

I participate in ERN-RND by being one of the coordinators of the working group on neurorehabilitation. Last year, I gave a ERN-RND webinar on the management of gait impairments in hereditary spastic paraplegia and this year I will provide a webinar on the sign-based approach to functional gait impairments.

4. What are your expectations for the network?

When we want to improve the care for people with rare neurological disorders, collaboration is key. Specifically, I hope that we can improve neurorehabilitation for rare neurological disorders, for example by making it more evidence-based.

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

Collaboration between patients and clinician is of utmost importance. On a weekly basis I get inspired by anecdotes from patients, which fuel my research ideas. I have noticed that scientific research becomes better when patients are involved from the start.

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

In this edition of “Meet the members”, we interview Nicole Wolf, pediatric neurologist in the department of child neurology in Emma Children’s Hospital/Amsterdam University Medical Centers, the Netherlands. She will tell us a bit more about her work in the hospital, within ERN-RND and her expectations for the network.

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

Since 2008, I work as a child neurologist in the Amsterdam Leukodystrophy Center (ALC), which is part of the department of child neurology in Emma Children’s Hospital/Amsterdam University Medical Centers. The ALC is dedicated to children and adults with leukodystrophies, and the 5 (child) neurologists see patients with those disorders from all over the world. My training in paediatrics and child neurology took place in Heidelberg and Zuerich. From the very first year at university, it my dream to become a child neurologist because you need to interpret everything on the background on a child’s development, and there is so much to see and to deduce already when observing a child. At the very start of my training, in 1999, I became interested in leukodystrophies and neurometabolic disorders, and began to follow children with these conditions. Within the ALC, my focus is on metachromatic leukodystrophy and hypomyelinating leukodystrophies, from diagnosis to treatment.

2. What do you like most about your work and what is the biggest challenge specially in regards to working on rare diseases?

There are only few things in my work I do not like. Following patients for many years and trying to find the best form of tailored treatment is rewarding, and I keep being impressed by the resilience and positive attitude of many patients and families. Working in an interdisciplinary team, covering the whole range from elucidating disease mechanisms to designing a clinical trial is always stimulating. Although good curative treatment options are only available for selected patients, there is clear progress, and to be able to participate in or to set up clinical trials is one of the most fulfilling things I can imagine.

The biggest challenge regarding rare diseases is that those diseases are rare, meaning considerable efforts to find enough patients to answer research questions with confidence. Often, we do not have good systems for example to describe severity of a disease, certainly in young children. On the other side, I very much enjoy the many collaborations needed to make the next step forward, and those collaborations are growing stronger.

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

Together with colleagues from other European centers, I am involved in coordinating the leukodystrophy disease group, and I am part of the ERN-RND management team. Our team gave several webinars, and I like this form of teaching very much because of its accessibility. We discussed a case very recently, and the opinions of colleagues in other centers are always valuable.

4. What are your expectations for the network?

That this network is the (virtual) place to go for patients and physicians from all over Europe when diagnosed with a leukodystrophy, to find advice and to participate in studies. And that it facilitates collaborations between different centers.

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

Patients and clinicians need to work as a team. Both depend on each other to achieve progress. Patients and families need to know as much as possible about “their” disorder, and doctors need to closely listen to their patients to understand their needs.

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

In this edition of “Meet the members”, we interview Annemieke Buizer, a pediatric rehabilitation physician and professor of pediatric rehabilitation medicine at the Emma Children’s Hospital/Amsterdam University Medical Centers, the Netherlands. She will tell us a bit more about her work in the hospital, within ERN-RND and her expectations for the network.

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

I am a pediatric rehabilitation physician and professor of pediatric rehabilitation medicine. Within the Amsterdam University Medical Centers, I work at the department of rehabilitation and at the Emma Children’s Hospital. I am coordinator of the Center of Expertise for Cerebral Palsy and Movement Disorders. I also participate in the Amsterdam Leukodystrophy Center and am chair of the Dutch Academy of Childhood Disability.

I specialize in movement analysis in children and treating mobility problems and movement disorders. My research is translational and clinical, with a focus on understanding mechanisms of motor problems (from brain to muscle) in children with (rare) neurological disorders and on interventions to improve functioning.

2. What do you like most about your work and what is the biggest challenge specially in regards to working on rare diseases?

I am fortunate that I get to work with children every day. In pediatric rehabilitation we focus on the needs of the child and the family in their daily life. I enjoy exploring what matters most to them, and how we can offer personalized treatment to help children reach their goals. This is multidisciplinary teamwork. What is very special about my work, is that I combine patient care with research. Results of my research can directly be implemented in patient care. In rehabilitation, we focus on improving function, often in diseases or disorders that cannot be cured. In the case that disorders are progressive, we usually do not talk about improving function, but about which interventions are possible to retain function as much and as long as possible, and see to it that the child is as comfortable as possible. A challenge is to offer specifically tailored treatment, or “precision medicine” – the best fitting treatment aimed at the individual characteristics of the child and the specifics of the rare disorder.

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

I am working group coordinator for the working group Neurorehabilitation, and I am part of the working group Pediatric Issues. I have not yet presented a case via the CPMS, but I look forward to participating in het CPMS in the future.

4. What are your expectations for the network?

Working together with professionals and patients in a multidisciplinary and international context is key in improving care for children with rare neurological disorders. The network is a place where we meet internationally, where information is shared and where we work at sharing and building care path ways. It promotes collaboration.

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

For patients, access to information on their rare disorder is important. For the professional, learning from the experience of patients and listening to their needs is vital to be able to offer the best advice. Patient involvement is fundamental in setting priorities for our network, in formulating common goals, in patients/parents and clinicians working together as a team.

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

In this edition of “Meet the members”, we interview Bart van de Warrenburg, neurologist at the Radboud university medical center. He will tell us more about his work in the hospital, within ERN-RND and his expectations for the network.

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

I am working as a neurologist at the Radboud university medical center, Nijmegen, the Netherlands. I am leading the expert centre for rare and genetic movement disorders, in which we focus on ataxias, HSP, dystonia and rare parkinsonism. This domain of medical expertise crosslinks clinical skills and neurogenetics, which I like very much. The official recognition of our centre by the Dutch Minister of Health was recently renewed. As a principal investigator, I also lead a research group that does translational research into rare and genetic movement disorders.

2. What do you like most about your work and what is the biggest challenge specially in regards to working on rare diseases?

As an academic doctor you combine care, research, teaching, and management, all within a dynamic and ambitious environment, which suits me quite well. It is great to be an expert on a small but relevant group of diseases, which allows me to really be of added value to patients. I also like the integration of care and research: picking up new ideas, questions, and priorities in the consultation room and also translate research findings back to the clinic. There are multiple challenges in working on rare diseases, including insufficient reimbursement for the expert care provided, difficulties to arrange a care network close to the patient’s home, limited funding resources for research, etc. Still, I sense a sort of momentum for rare disease care and research, and I think the ERN is a tangible embodiment of that. Therapies are on the horizon and this is a great boost for this area in medicine.

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

I have been involved with ERN-RND from the start and witnessed its ‘maturation’, which is great. I am part of the working group on ataxia/HSP, have contributed to teaching in one of previous winter schools, featured in two webinars, and reside in a CPMS panel. With regard to CPMS, it has been nice to jointly try to solve cases within the system and to be part of a recent online CPMS case discussion. The number of cases discussed could be higher, and I indeed think it is good to try and push this.

4. What are your expectations for the network?

As said, ERN-RND is clearly maturing and is now quite professionally supported. It is becoming clearer what our main activities and goals are. Guidelines and case discussions are important instruments to try and help colleagues within the EU to manage their patients with rare neurological disorders. In our hospital, I also see that the ERN’s are increasing in importance. There is a clear opportunity for ERN-RND to take the lead in improving and harmonizing care for rare neurological disorder patients in the EU. However, it will be important that ERN-activities are formally recognized by national authorities and hospitals. For most of the ERN-RND members, these activities are currently extra and often done in spare time.

I also see that ERN-RND, with other ERN’s, can serve research purposes by providing an excellent infrastructure and network. I am part of the Solve-RD project, which is built on this.

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

I have been working with patients for many years. I am medical advisor for various patient societies, our expert centre has a patient council, and patients are increasingly involved in the early phases of our research. I have noticed that these interactions are of benefit to our care organisation and have contributed clearly to recent grant successes. It is therefore important that ERN-RND cherishes and further nourishes such interactions.

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