21 September 2023

Measuring how living with a rare disease impacts our mental health

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Measuring how living with a rare disease impacts our mental health: Case study of the resilience of people living with Neurofibromatosis Type 1

Claas Röhl, President of NF Kinder

 As a father living in Austria, my life took an unexpected turn when my daughter was just three months old, and the first signs of a rare condition called Neurofibromatosis Type 1 (NF1) surfaced. NF1 is a genetic condition that causes tumours to grow in the nervous system. The first symptoms commonly are café-au-lait spots, which are dark pigmented patches on the skin. The following months were a whirlwind of uncertainty, doctor appointments and tests, searching for a specialist who could tell us what these spots were, resulting in mounting concerns and anxiety before we finally received the diagnosis. Looking back, this period of ambiguity and searching for answers was one of the darkest and most challenging times for my wife and I as parents, as we were still hoping that there may be another explanation for these spots, and they would not connect to NF1. We were still hoping there would be an end to this nightmare and receive good news.

Coping with the uncertainty and trauma

Receiving the diagnosis extinguished the last glimmer of hope and was a traumatic event for the whole family. However, it also helped us to focus our energy on learning about NF1 and understanding what we could do as parents. As a result, we learnt that NF1 is a genetic condition without a cure, that it will not go away, and it will accompany our family throughout our whole life. The condition affects all body systems and has a poor prognosis. It is highly unpredictable, with more than 100 potential symptoms and health threats throughout life, including different types of cancers. This was a tough pill to swallow, as being faced with all the different possibilities was overwhelming. Our internet searches gave a distorted picture of NF1, presenting us with images of the most extreme cases. It was frightening to us to view so many pictures of severe manifestations of the condition, such as pictures of people being covered with thousands of skin tumours or exhibiting large facial tumours or orthopaedic complications.

Support from friends and family was critical at this time, but rare conditions like NF1 are little known to most people. They were trying to help and reassure us by telling us it will not be so bad and that everything will be alright, but we felt that they did not really grasp the potential severity of this condition. We tried to find other families living with this condition as we felt misunderstood, increasing our sense of isolation and giving us no choice but to cope alone at a time of our greatest need. Our broader family began to understand when our daughter was laying in hospital receiving chemotherapy and brain surgery to treat multiple brain tumours.

Living with a rare condition: the challenges and the impact on mental health

Strains on mental health weave through the fabric of every family member’s life when a family faces a rare disease like NF1.  It became apparent to us as parents that offering psychosocial support was just as crucial as tending to our daughter’s physical needs. The weight of a never-ending wave of doctor appointments and the anticipation of potential bad news carried a heavy toll on our mental health. The unpredictable nature and unclear prognosis of NF1 adds another layer of complexity. Our ‘rare disease’ journey had started and was laden with anxiety, testing our resilience to navigate each step on this journey which was immense and overwhelming. In addition to the physical effects of our daughter’s NF1, the condition often brings neurocognitive problems like ADHD, learning issues, or behavioural struggles in kids. Lack of awareness in schools can result in serious misunderstandings of their behaviour. Under-informed teachers might wrongly brand these children as disruptive or unintelligent, affecting their self-esteem and educational path, with lasting consequences on their life journey and ambitions. Beyond the classroom, those with visible NF1 manifestations can face ridicule, bullying and exclusion due to their differences. These experiences can result in exclusion from the social activities that are so important to a child’s wellbeing and development and can worsen their sense of isolation.

Entering adulthood with NF1 comes with its own challenges, as employers and other public community spaces often fail to be accepting or make accommodations, as skin or facial tumours, that are common in NF1, are widely mistaken to be contagious, resulting in avoidance and even nasty comments in public. Entering adulthood means facing additional barriers to find workplaces that offer accommodations and to form meaningful social connections. People with NF1 have been asked to step out of the metro or leave a public swimming pool. Such environments are not conducive to cultivating self-worth and social connections in daily life. The full range of these experiences throughout life underscores the necessity for increased focus on the mental health needs of people with NF1, their families, and the tens of millions affected by other rare diseases across Europe. Raising awareness is a vital step in dismantling the stigma surrounding NF1 and many other rare diseases. A vicious cycle emerges, where stigma breeds silence, and silence perpetuates stigma. Breaking this cycle requires a concerted effort to promote open conversations, understanding, and support. By sharing stories and experiences, we can foster empathy and solidarity, helping society recognise the struggles and triumphs of those living with rare conditions and the disabilities that come with them.

Mental health issues have been evidenced to be a common and significant issue for the whole family living with NF1 as the level of depression and anxiety show a direct correlation with the visibility of the condition and of the person’s disabilities. A recent survey has shown that 80% of adults living with NF1 live with depression, anxiety and other mental health and wellbeing challenges (NF Kinder). Another study also has shown that women living with NF1 have a higher risk of developing depression (Granström S. et al., 2012). That is why it is important to educate the public about NF1 and have psychosocial support along the life journey that can support them from the time of a suspected diagnosis to the actual diagnosis through all the phases of their lives.

Addressing mental health: NF Kinder Initiative

After my daughter completed chemotherapy treatments in hospital I made the decision, like others in the rare disease community, to set up NF Kinder – a patient organisation to support people living with NF1. Advocacy efforts at the political level and raising awareness are essential, but at NF Kinder, we’ve gone beyond that. We have been channelling our energies into fundraising, developed the first centre of excellence for NF1 in Austria, implementing psychosocial programmes that address the gaps we identified. Collaborating with psychologists and play therapists, we have also developed initiatives aimed at directly providing psychological support. When families come to us for psychosocial support initially, they are very stressed and anxious about speaking about their child’s diagnosis for the first time. However, once they engage, all the parents open up and share their experiences. At the end, the parents depart with a sense of relief feeling like a weight has been lifted off their shoulders and they make friends and keep connected after forging connections and a support network that is essential to improving mental wellbeing. Parents witness their children interacting and playing with other children. They see that their child is not an outsider, but an integral part of a bigger community. Observing the influence of our support has been remarkable. Following brief sessions with psychologists and play therapists, we have seen families rekindle strength to face living with uncertainty and are better equipped to handle any potential future traumatic events.

Rallying for mental health support

Like all parents, we are extremely proud of our daughter and her tenacity and resilience in dealing with this diagnosis and all that this rare condition brings into her life. But more needs to be done by policymakers and wider society to support the mental health of people living with NF1 and other rare diseases. The rare disease journey our daughter and whole family has made is a testament to the power of resilience, empathy, and advocacy. It’s a journey marked by challenges, points of isolation and darkness, but also one characterised by hope and determination. The impact of living with a rare disease on mental health and wellbeing cannot be underestimated. And it’s incumbent upon all of us to rally around those living with rare diseases, offering the support, understanding, and solidarity they need to thrive. Through awareness, education, and collective action, we can illuminate a path towards a more compassionate and inclusive world for individuals living with rare diseases, one that also addresses their distinct psychosocial needs.

Find out more about Neurofibromatosis Type 1:  

NF Kinder: www.nfkinder.at

NF Patients United: www.nf-patients.eu

EURORDIS – Rare Disease Europe: www.eurordis.org (NF Kinder is a member of EURORDIS)


Granström S., Langenbruch A., Mautner VF. Psychological Burden in Adult Neurofibromatosis Type 1 Patients: Impact of Disease Visibility on Body Image. DOI: 10.1159/000337548. Dermatology 2012.

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