20-22 - RARE DISEASES - The 17th World Congress on Controversies in Neurology

This year, the 17th World Congress on Controversies in Neurology (CONy) took place in Dubrovnik, Croatia and focused on genetic, biomedical, pathological and technological pathways of diseases like Alzheimer’s to stroke.

The agenda was packed with scientific content and challenging themes, with congress delegates delving deep into the complexities of their fields.

But, at every break, the 800 delegates’ attention was drawn from the science to the personal. Positioned centre stage in a separate section of the congress were four people on chairs in front of photographic displays that captured their life and experience with the rare disease neuromyelitis optica spectrum disorder (NMOSD), commonly known as NMO, which impacts between 0.3 and 4.4 per 100,000 people.

The condition, mainly occurring in women, strikes suddenly between the ages of 30 and 50 and confounds primary care diagnoses, with patients waiting up to five years for a diagnosis and often enduring side effects from inappropriate medication.

It is an immune system malfunction that only achieved a recognised diagnostic criterion in 2015. It regularly defies diagnosis and after the first attack can remain silent for up to ten years. The four people living with NMO who were at the conference were there to end the silence.

They explained how their initial symptoms, often blurred vision, were ignored and misdiagnosed, and how they struggled with uncertainty before getting a diagnosis and treatment.

The ‘living-talking’ photographic display was organised by Horizon Therapeutics, the global biotech, to give the patients a platform and raise awareness among clinicians and KoLs.

Professor Celia Oreja-Guevara, Vice Chair of Neurology and Head of the Multiple Sclerosis Centre at the University Hospital San Carlos, Madrid, who attended the Congress, said: “The big problem is that physicians do not recognise the disease.

“The next major problem is that they are unaware that there are treatments. The result is that patients face the nightmare of living with an undiagnosed condition.”

NMO primarily affects the eyesight and causes muscle weakness, and for a long time it was considered a rare version of multiple sclerosis before being more accurately classified seven years ago. Patients present with blurred vision and mobility problems but MRI and blood tests are often negative, added Professor Oreja-Guevara.

“Patients tell us the worst thing about the condition is not knowing when they will have a secondary attack. In MS, there are MRIs and OCTs to help see the likely progression but in NMO there is an attack and then there is silence. It is so important to diagnose and treat early because patients can achieve ten years of stability – they can still work and have a social life.”

Jo Benoit, VP & General Manager at Europe Horizon Therapeutics, added: “We speak to patients and they tell us they want a platform for their voices to be heard; they want an opportunity to talk to physicians as well as the NMO community. We knew CONy was coming up so we invited the patients along to share their stories and really bring them to life.

“This is an exceptional forum. By showing their photos and sharing their experiences with the disease, it gives an extra dimension to the science and the lectures. Their stories are very compelling and moving. We are doing this to raise awareness and educate so that diagnoses can be accelerated and the devastating consequences of not knowing can be avoided.

“As an organisation, we are dedicated to the science and innovation but, as 25% of all rare disease patients have to wait five years for a diagnosis, it is important to listen to them and the healthcare professionals (HCPs). We are advancing science but we also need to raise awareness.”

Horizon was founded with a handful of employees in 2008 by CEO Tim Walbert, who was diagnosed with a rare disease while at college. The company, which is headquartered in Dublin, has grown into a global biotech with a portfolio of medicines to treat rare, autoimmune and severe inflammatory diseases and is now subject to a $28.3bn acquisition bid from AMGEN, which is currently under review.

Horizon has a $22m CSR fund that supports rare disease communities while, on the scientific side, it has a robust R & D programme with three therapies at phase 3 across five indications.

“Most physicians don’t know about NMO, so we need to make noise about it and give the patients a platform, whether that is through congresses, symposia, webinars or social media,” added Benoit. “It’s our duty and our obligation to be here to help patients. It is important that their struggles for diagnosis and to access therapies are heard.”

“These are very exciting times in rare diseases,” said Benoit. “But there is so much that still needs to be done in terms of identifying patients, improving access and organising specialist treatment centres and registries. Patient advocacy groups are so important in this.

“We felt the strength of the NMO patients’ experiences when we did the photoshoot earlier this year and felt that people in the neurology community would benefit from the opportunity to meet them and hear their stories.

“Scientific advances are what we strive for, but it is the people we can help that drive everyone forward in medicine.”

Leda Bresnov from Denmark is a 53-year-old laboratory assistant and is married with two children

“I was diagnosed four years ago aged 49. I started to feel numbness in my fingers and face and within 24 yours I was paralysed on half of my body and lost 80% of my vision.

“I regained a lot of my vision but not enough to work or drive so I had to retire from my job as a laboratory assistant, which I’d done for 16 years.

“It was a complete surprise. I had no health problems, was fit and ran 15km every other day in training for a half marathon.

“I couldn’t see my face in the beginning and I had to change my whole life, which was very difficult and I had to go through therapy. I was very active, very spontaneous and taught Zumba classes. Suddenly, I couldn’t drive and couldn’t dance. I lost my job and went from being a fit 49-year-old to feeling like I was in my 70s.

“The psychological aspect of this disease is terrible because you never know what to expect. At the start, I felt like I was living with a gun pointed at my head.

“I had another attack after 18 months but nothing since. I have lost peripheral vision and suffer from neuropathic pain but my disease is peaceful at the moment. If our stories contribute to improving neurologists’ and doctors’ knowledge then it will help others get faster diagnoses.

“But it is not just the disease they are treating. It is about the person and their quality of life; not just surviving. It is important to have this collaboration so we can better understand each other.”

Matthias Fuchs from Munich is 47 and works in aerodynamic and thermal safety at BMW

“I was in Times Square in New York watching the Thanksgiving parades with my wife Christine but with all the lights shining I had to cover my left eye because it was too much,” he said. “I then looked down at the ground and everything was blurred. I didn’t say anything because I didn’t want to ruin our holiday. But back home I visited an ophthalmologist and I was lucky as he referred me to a neurologist who knew about NMOSD. He couldn’t find anything wrong with me but he said goodbye to me with the words ‘I think we will meet again’.

“Two years later, I was back in his practice with mobility issues. I was limping with my left leg and the muscle that lifts my foot was not functioning properly. After lots of tests, he found a significant lesion in my spinal cord and he diagnosed it as NMOSD.

“I had a range of treatments over five years with various side effects and had to give up riding my motorbikes and hiking, which were passions of mine.

“Although this disease has reduced my boundaries, I don’t let it affect my life. I stay positive.

“I am so glad that I could come to the congress because there are doctors that don’t know about this disease. It is very easily misdiagnosed and people are put on the wrong treatments. which only makes it worse. If you are treated wrongly you can go blind all of a sudden, not gradually.

“If being here saves just one patient from that then it is worth it because there will be one extra happy person on the planet with a happy family and friends.”

Els Roelandt, 47, a nurse from Belgium, was diagnosed in January last year

“All of a sudden I had a headache then a few days later I was blinded and had to go the hospital’s emergency department. I had no illness before but this has turned my life upside down.

“I couldn’t continue working as a nurse because I occasionally shake and you can’t administer an injection or draw blood so I had to quit my profession.

“It has meant huge change in my life but I stay positive and focus on what I can do rather than worry about what I can’t do anymore.

“I was lucky in that I got a relatively quick diagnosis because my doctor knew about NMO, but so many people have to wait. I want to show people that you can adapt to the change and be positive.

“It has been great to attend the congress because we can speak to people who have little or no experience of NMO and improve their understanding. It has been a good opportunity and it can lead to positive benefits and will help them think outside the box whenever they see someone with NMO symptoms.”

Elisabetta Lilli, 53, a former hotel manager from Italy, is the president of the AINMO, a new support group in Italy

She was diagnosed with MS aged 34 and was treated for the condition for nine years but it was realised that she had NMO.

“My body did not respond to any treatment or medication for MS so eventually I had a specific test for NMO. I’ve had to give up my job as a hotel manager in Rome and my relationship ended but I’m lucky because I have support from my family and friends.

“I am very creative and love to do ceramics. It is my passion and it has been very important in rebuilding my life. I have crutches now to help me walk and I sometimes lose sensation in my hands which is worrying because I love ceramics and don’t want that to be taken away from me.

“Working with the association has given me a new lease of life. I want to help people particularly those misdiagnosed with MS, like I was. It is something we have to stop.

“I have been able to meet doctors at the congress and raise their awareness and it has been really good to talk to them and know that they have listened and will take that knowledge back into what they do every day.

“I am 53 now but there are young people starting on their NMO journey and I don’t want them to go through what I experienced. My mantra is that we are people; we are not a disease.”

The 17th World Congress on Controversies in Neurology

Patient stories