Inês Alves is a veterinary doctor and has a post-graduate qualification in surgery. She started a Ph.D. in 2011 but put it on hold to care for her second child, born with achondroplasia in 2012. She created the blog ‘Beyond Achondroplasia’ in 2013 and ANDO Portugal, the Rare Bone National Association, in 2015. She attended the EUPATI patient expert training in 2016 and became an advisor in patient engagement in 2017. She became a patient representative (ePAG) and a member of ERN BOND’s steering committee in 2016. She is a patient expert for EMA and IMI, a EURORDIS volunteer in the European Joint Programme on Rare Diseases and also a member of the E-rare and Rare 2030 expert panel. Inês is Vice-President of EUPATI Portugal, and a member of the management committee and communication co-leader of Gemstone COST action, genomics of musculoskeletal traits. She is the founder and first chair of the European Rare Bone Forum, created in late 2019, a patient-led initiative for discussing rare bone disorders. She lives in Évora, a small and beautiful UNESCO heritage city in the south of Portugal, with her children and husband.

How did you discover that your daughter had a rare disease? How does this impact her life, as well as yours as a mother?

My daughter was born with achondroplasia in 2012 in a regional hospital in Portugal. Achondroplasia is a skeletal dysplasia and has a prevalence of 1:25.000 births. This was totally unexpected as it could and should have been diagnosed during pregnancy. Before we were released from the maternity hospital, a paediatrician reported she had short limbs, yet she was evaluated as a healthy baby and we were discharged.

We were given the diagnosis in a private genetics clinic one month after her birth. From that day on, I made it my job to search for answers. While still dealing with the news and trying to give her the best care, my daughter faced major complications. But only having direct access to a regional hospital quickly became the hardest challenge. I made many contacts, travelled many kilometres, my daughter had several hospital stays and operations, and it was a steep learning curve.

Facing a rare disease diagnosis is life-changing. It makes you fully reconsider your priorities and is emotionally very challenging. It causes distress in the family as well as having a social, professional and economic impact. We needed to rediscover ourselves as individuals, as parents, as family members, as friends and as members of society.

How did you become a patient representative for ERN BOND and how do you contribute to it?

After the diagnosis of my child, one of the most striking problems for me was the lack of accessible and credible information for patients and parents. To tackle this, in 2013 I created the blog Beyond Achondroplasia, which is now a multi-language platform for sharing relevant studies, mostly on medical topics and research. In 2015 I created a patient organisation, ANDO Portugal, to support patients with skeletal dysplasia and their families. I was invited to work together with another patient organisation in Spain, ALPE, as a scientific advisor. Also in 2015, I attended the 2nd conference on European Reference Networks (ERN) that was taking place in Lisbon. There it was clear for me that I needed to be a part of it. I applied to the European Commission as a patient representative (ePAG) and was elected, joining ERN BOND in March 2016. Since then, I have been involved in all working groups, taking part in projects and decision-making processes. The work among BOND team members has always been collaborative and engaging, with direct and close communication among all members.

Can you say a few words about ERN BOND?

ERN BOND is the biggest European initiative for collaboration between healthcare professionals, patient representatives and groups, and also centres of expertise in rare bone diseases. This joint work is absolutely key to improving access to care and reducing the burden of diagnosis challenge, which is beneficial both for patients and families and for healthcare professionals. My work in ERN BOND is fully dedicated to and focused on all patients and organisations dealing with rare bone conditions, and is not limited to achondroplasia, the condition I´m most connected with.

Is there a specific message you would like to pass on, both as the mother of a child with a rare disease and as a patient representative

Healthcare, as a concept, exists because there are individual patients and societal health needs. And the accomplishment of this concept goes beyond healthcare professionals, clinical and research centres, medicines and the devices industry, etc. Patient advocates, representatives and patient groups do, in most cases, help improve access and delivery of care, playing a truly core role in many processes. Yet, this work is still under-recognised across many sectors, and seen as a minor or accessory role. This limited view needs to change promptly.

Years ago, I realised there was no information and that patients and parents desperately needed it. The system had gaps and flaws, professionals did not know about the condition, and the best care was not always available. I needed to act, not only for my child but also for all the other children, adults and parents.

Becoming a patient advocate is when the wellbeing of others (those that you do not even know), is equally important as the wellbeing of your loved one. Yet, this is not an easy decision: it requires a lot of time (many days off, away from our family), availability, willingness, dedication, vision, and resources. And all this needs to be recognised as a full-time job and not as a mere volunteer input, both by national healthcare systems and at European level.