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#ActRare2024: Life with MCOPS12 and how European action can make a difference

mayo 2024

EURORDIS-Rare Diseases Europe is championing the #ActRare2024 campaign, urging the EU’s forthcoming policymakers to implement strategies that will enhance the quality of life for the 30 million individuals impacted by rare diseases across Europe.  

But what drives our call to action? What are the specific improvements we seek to achieve? We delve into these questions through the experiences of Reinhard Pell, Founder and Chair of Cure MCOPS12, and discover how our proposed eight policy actions could better the health and wellbeing of families like his.  

Reinhard and his wife Edith, who live in Austria, established Cure MCOPS12 in 2020 following their son Simon’s diagnosis.  

The quest for a diagnosis

When Reinhard and Edith welcomed their son Simon in July 2017, their initial joy was quickly overshadowed by distress and uncertainty. Simon was born with microphthalmia on both eyes and respiratory problems, leading to an urgent and prolonged five-week stay in an intensive care unit. After returning home, it became evident that Simon did not engage with his surroundings in the same way other infants did, prompting the Pells to seek further answers. 

Despite their persistence, obtaining the necessary genetic testing proved challenging. It took eight months – a relatively short period compared to many in the rare disease community – for Simon to be diagnosed with MCOPS12, an ultra-rare genetic and complex neurological disorder, caused by a mutation in the retinoic acid receptor beta (RARB) gene.  

The Pells reached a relatively speedy diagnosis compared to many patients of MCOPS12 and other rare diseases across Europe, reaching a diagnosis within 8 months. While costs of genetic testing were partially refunded, the test to confirm the diagnosis had to paid out of their own pocket. Reinhard’s professional background in chemistry also gave them scientific knowledge that many other families would not have had. 

“We learned from other MCOPS12 patient families, that they had many more obstacles, to get a genetic testing. For some patient families, it took them eight or nine years to get a diagnosis.” 

What role can the EU play?

Daily life with an ultra-rare disease

Reinhard shares the daily realities of caring for his son, Simon, who is blind and unable to sit without support. Now seven years old, Simon has the cognitive abilities of a one-year-old. Reinhard highlights the constant need for support that comes with managing rare diseases and discusses the significant financial challenges involved. 

In Austria, while health insurance provides some relief by covering basic necessities such as wheelchairs, Reinhard points out the gaps in support. Necessary home modifications – like installing lifts or making structural changes – come with hefty price tags that families must often handle out of pocket. 

“In addition to everything that is not considered basic equipment – such as wheelchairs, any kind of mobility devices, or a bike trailer – things that simplify your daily life are not funded at all.”  

Reflecting on this challenge, Reinhard says more help should be available to alleviate this financial burden and to remove the bureaucracy around financial help. 

“What could actually help would be to get some kind of lump sum… and then you as a parent, can do with the money what you want, test new physiotherapies, tests, off the shelf devices, anything which could help your child.” 

Research into MCOPS12

Upon diagnosis, the Pell family were faced with little to no information or research into MCOPS12. 

“It was a very challenging situation. We got the diagnosis in 2018, and there was basically no research. There was one publication available describing the disease… but basic and fundamental research was not available.” 

Reinhard and Edith founded their own patient organisation, Cure MCOPS12, where they seek to ease the journey for other families by improving research, treatment options, and policy support for MCOPS12. 

Reinhard agrees that there is a great need for more financial incentives for pharmaceutical research, the importance of expansion of academic research projects into rare diseases across Europe, and the need for more rare disease centres. 

“For instance, France does a good job conducting the annual AFM-Téléthon and providing grants for rare and neuromuscular disease research projects. But this could be of course extended for the whole European Union.” 

Looking forward 

Despite the obstacles the Pell family have faced, Reinhard remains committed to and positive about his mission. Cure MCOPS12 has brought together families, around 50 in the world, creating not only a support network, but a network looking towards crucial research and development. 

“We wanted to give Simon a chance for better life and of course for other children with MCOPS12,» says Reinhard.

“This was our main driver, our mission is to find a therapy, at least to ameliorate the symptoms to make daily life easier.” 

Above all, Reinhard wants to continue raising awareness – particularly amongst healthcare professionals and the pharmaceutical industry. He hopes to be a contact person for other families, and to help to make a difference for patients across the world with MCOPS12, just like Simon.

The Pell family’s story highlights the pressing need for the EU’s next cohort of policymakers to implement strategies that significantly improve the lives of individuals within our rare disease community across Europe.

Crucially, during the next five-year legislative term, the European Union must develop a comprehensive and targeted European Action Plan for Rare Diseases. This plan should consolidate diverse areas of policy progress on rare diseases at both national and continental levels. It must ensure that the needs of EU citizens living with rare diseases, such as Simon and the Pell family, are met effectively and without unnecessary delay.

Help us make our community’s demands heard loudly and clearly by the EU’s next leaders and decision-makers by learning how to get involved with our #ActRare2024 campaign.

Millie Trsic, Communications Intern