I’m a teenager – do I care if my disease is rare?

Earlier this year, Findacure, in conjunction with Orphanet Journal of Rare Diseases, announced the winner of its student essay competition on rare diseases (The Student Voice). European medical and biological undergraduate students gave their rare disease opinions, experience, and knowledge, in response to one of three topic choices. While the overall winning essay by Roberta Garau is set for publication in Orphanet Journal of Rare Diseases, we are proud to bring you some of our top choices in this week leading up to Rare Disease Day.

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The first essay comes from Harriette Pearson a fourth year medical student from Barts and The London School of Medicine. Harriette’s essay was related to the topic:

“Compare and contrast the medical experience of a patient with a rare disease and one with a common condition”.

A rare disease is defined by the European Commission of Public Health as a disease which is ‘life-threatening or chronically debilitating’, with ‘such low prevalence that special combined efforts are needed to address them’ (European Commission of Public Health, 2004).

Despite the low prevalence of such individual diseases, in combination they are thought to affect between 6-8% of the population. Sufferers and their families often face challenges in receiving the right diagnosis, finding the correct support and treatment for their condition, and coordinating care, on top of living with a chronic condition.

80% of rare diseases (RDs) are caused by genetic defects, with 75% of RDs affecting children (Eurodis, 2007). Adolescent patients therefore, are not exempt from suffering from these conditions, and pose particular challenges to their doctors.

Diagnosis is long and arduous for the majority of rare diseases sufferers, and teenagers can feel the effects of being ‘different’ more exquisitely than their younger or older counterparts.

Diagnosis is long and arduous for the majority of rare diseases sufferers, and teenagers can feel the effects of being ‘different’ more exquisitely than their younger or older counterparts. Many experiences will be shared with teenage sufferers of common chronic diseases – however it is important to look at the unique challenges being ‘rare’ might present in adolescent medicine.

This essay focusses on identifying and addressing these potential challenges, using existing literature and an interview with a teenager suffering from a rare disease – Amy*- at a tertiary gastrointestinal unit.

Diagnosis

Rare diseases are difficult to diagnose. Many doctors will never have seen the disease before, and signs and symptoms are often non-specific and misleading. One study of families with children with a rare disease demonstrated that 43% felt that diagnosis was delayed, with 14% seeing 6-10 doctors before receiving the correct diagnosis. In a survey by Genetic Alliance, 96% of UK physicians agreed that there was a delay in diagnosis for those suffering from a rare compared to a common disease.

Many doctors will never have seen the disease before, and signs and symptoms are often non-specific and misleading.

Amy suffers from Ehlers-Danlos syndrome (EDS), a collective term for a rare group of connective tissue disorders. For two years before her diagnosis she was seen by several doctors treating her disease as individual problems, struggling to link her symptoms under one unifying diagnosis.

Eventually her family paid for private consultations, which they believe led them to a faster diagnosis than they would have had on the NHS. If we compare this experience to a typical patient on the gastro-intestinal ward Amy is on, suffering from Crohn’s disease – the story of diagnosis is often much more straightforward. Classic symptoms make diagnosis more straightforward – with patients commonly presenting with pain, diarrhoea and weight loss. Median time to diagnosis is 9 months.

As a teenager, how has this lengthy and difficult diagnosis affected Amy, and therefore how might it effect similar teenagers with a rare disease? One subject she is particularly concerned with being told that her illness is ‘all in her head’.

As a young teenage girl, perhaps physicians would be more inclined to lean toward a psychiatric root for her gastrointestinal and pain problems than for a younger patient. Further cases of EDS and other rare conditions leading to weight loss in adolescent girls being wrongly diagnosed as a psychiatric condition can be found in the literature.

This leads to slower access to correct treatment for a condition. It can also lead to psychological damage in the patient and families, with increased negative feelings and decreased confidence in the medical profession. In Amy’s case, this has led to fear that doctors will not believe what she says – which is damaging to the doctor patient relationship and fundamentally her care.

Living with a rare disease as a teenager

At a time when all adolescents want to do is fit in, suffering from a life altering illness further distances sufferers from their peers. Do teenagers with a rare disease have a different medical experience to those with a common disease?

By their nature, many rare diseases are chronic and complex – leading to a heavy disease burden, which is often lifelong. This can mean extended stays in hospital, away from home and school. Secondly, lack of understanding about their condition can mean teenagers feel even more isolated from their school friends and their family.

Other teenagers at school don’t understand what it’s like for her, and can often ask insensitive questions.

Amy has spent several long periods of her adolescence in hospital. This has reduced the opportunity to interact with others of her own age, and to maintain lasting friendships outside of social media. She describes how other teenagers at school don’t understand what it’s like for her, and can often ask insensitive questions.

She described how when a pupil at school was diagnosed with blood cancer (itself not common in childhood however part of a group of diseases which is common across the whole population), teachers and peers rallied together to teach others in the school about leukaemia.

Amy described her disappointment that she doesn’t receive the same sympathy or understanding from her classmates. She spoke about how people don’t understand how debilitating her illness is, and how she sometimes wishes she had something like cancer – something which people understood and which she could recover from. In addition to the social ostracization, missing school as a teenager also leads to problems with education and future employment.

Teenagers with a rare disease have to cope with the loneliness of their disease, often not knowing of anyone else with similar problems. In a common disease, it is easier to meet others with the same condition due to its higher prevalence.

It is during adolescence that peer relations hold the most importance in psychosocial growth and competence; psychological research has demonstrated the importance of close relationships in socio-emotional adjustment during this time.

What is the impact of this isolation on a teenager? It is during adolescence that peer relations hold the most importance in psychosocial growth and competence; psychological research has demonstrated the importance of close relationships in socio-emotional adjustment during this time. Without these, as young adults rare disease sufferers can find themselves ill-prepared for adult life and adult relationships.

Transition

Whether suffering from chronic or rare illnesses, young people’s contact with health services declines as they transfer to adult services, with a detrimental impact on their health and wellbeing. This is a time where you have to say goodbye to your paediatricians, many of whom have known and treated you for years, and head to adult services. How is this experience different for a rare disease sufferer?

Rare diseases often affect more than one body system. This means that coordination of care during transition from paediatric to adult services is even harder, with many specialists involved, often with no one able or willing to take responsibility for care.

This is more complicated than the transition for a patient with a common disease such as Crohn’s, where the patient is often transferred simply to the care of an adult gastroenterologist. A study from Rare Disease UK found that transition was better for sufferers of common conditions than rare conditions.

This is not to dismiss the impact of transition for a teenager with a common disease – however to emphasize that their experiences are often more streamlined as many similar patients have come before them, and adult services find it easier to understand their needs.

The 2010 Genetic Alliance report demonstrated that rare disease sufferers more frequently experience problems with medical, psychological, financial and social issues during this time, and view transition as a ‘frightening prospect’. At least 30% of patients had experience problems in transition from child to adult care. A personal anecdote from a patient with EDS was ‘I was ‘forgotten about’ by medics when I turned 18’.

Transition care was highlighted as a key issue in the UK Strategy for Rare Diseases after a report on rare disease impact by Genetic Alliance in 2010.

Transition care was highlighted as a key issue in the UK Strategy for Rare Diseases after a report on rare disease impact by Genetic Alliance in 2010. They promote the use of a care coordinator, one person who is responsible for liaising with different health professional throughout the time of transition.

In addition, they recommend the use of telemedicine and the internet to expand the number of people who can attend meetings virtually. Early planning of transition would be important for any rare disease teenager and their family, to ensure all systems are in place for when transition takes place.

Speaking to Amy and her family, transition is not at the forefront of their minds as their current medical issues are sufficiently overwhelming. Perhaps it would be important however, for their caregivers to soon raise this issue, so all involved can give some thought to what they would like to achieve from the inevitable transfer to adult services.

Conclusion

Adolescents with rare diseases have to cope with additional challenges from diagnosis to transition to adult services. It is important to realize that all adolescent patients, whether suffering from a common rare disease can suffer from these isolating consequences of their illness.

It is also important, however, to realize that these problems may occur more commonly in teenagers suffering from a rare disease, in order to sooner recognize and ameliorate their suffering.


 

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One Comment

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Polly Moyer

I used to work with teenagers with cancer and the difficulties they experienced when transferring to adult care were often described as ‘worse than the cancer – or the treatment’.
I am now a person with a rare condition and a rare diseases advocate/activist. I feel the author of this essay has done an excellent job in addressing the current issues faced by teenagers with rare conditions and making a compelling case for equality of access to services when compared with teenagers with more common conditions. The essayist points up that there is room for improvement for adolescents with more common problems too, as they transition to adult care.
I was particularly moved by the essayists comments about Amy’s feelings regarding being told that her symptoms were ‘all in her head’. Unfortunately this is a very common experience in adult care and can, as the author suggests, have a very negative impact on future consultations.
All in all a most impressive essay which I hope will help raise awareness not just about specific rare symptoms and conditions but also about the wider context of patients’ lives.

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