十几岁的罕见疾病应对

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第一篇论文来自哈里特·皮尔森（Harriette Pearson），一名来自巴特斯（Barts）和伦敦医学院（London School of Medicine）的四年级医学生。哈里埃特的文章与该主题有关：

“比较和对比患有罕见疾病的患者的医疗体验，患有常见疾病”。

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 between6-8% of the population。患者及其家人经常在接受正确的诊断，为自己的状况找到正确的支持和治疗方面面临挑战，并在患有慢性病的生活中进行协调护理。

80％的罕见疾病（RDS）是由遗传缺陷引起的，其中75％的RD会影响儿童（Eurodis，2007年）。因此，青春期患者并不能免于这些疾病，并对医生构成了特殊的挑战。

对于大多数罕见疾病患者而言，诊断又艰巨而艰巨，青少年可以感觉到与年轻或年龄较大的同伴更加精致的影响。

对于大多数罕见疾病患者而言，诊断又艰巨而艰巨，青少年可以感觉到与年轻或年龄较大的同伴更加精致的影响。许多经验将与常见慢性疾病的青少年患者分享 - 但是，重要的是要研究青少年医学中可能存在的“罕见”挑战。

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.

诊断

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 beforereceiving the correct diagnosis。In asurvey 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.

许多医生永远不会看到疾病更加积极re, 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 is9 months。

作为一个青少年,如何这漫长而艰难的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 befound 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 anddecreased 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更加孤立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.

艾米（Amy）在医院度过了几段长时间的青春期。这减少了与自己年龄段的其他人互动，并在社交媒体之外保持持久友谊的机会。她描述了学校的其他青少年如何不了解她的感觉，并且经常会问不敏感的问题。

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.

艾米（Amy）描述了自己的失望，她没有得到同学的同情或理解。她谈到了人们如何不了解她的疾病如何使人虚弱，以及她有时希望自己有像癌症一样的东西，这是人们理解的，她可以从中恢复过来。除了社会排斥外，十几岁的学校失踪也导致了教育和未来就业。

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.

正是在青春期，同伴关系在社会心理增长和能力中最重要。心理学研究表明importance of close relationships in socio-emotional adjustment during this time.

这种隔离对少年有什么影响？正是在青春期，同伴关系在社会心理增长和能力中最重要。心理学研究表明importance of close relationshipsin 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 theirhealth and wellbeing。在这个时候，您必须向儿科医生说再见，其中许多人已经认识并治疗了您多年，并开始接受成人服务。这种罕见疾病患者的经历有何不同？

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.

The2010年遗传联盟报告证明在此期间，罕见疾病患者更频繁地遇到医学，心理，财务和社会问题的问题，并将过渡视为“令人恐惧的前景”。至少有30％的患者在从儿童到成人护理的过渡方面存在问题。当我18岁时，医务人员“我被医生们忘记了”。

Transition care was highlighted as a key issue in theUK Strategy for Rare Diseases在2010年遗传联盟罕见疾病影响的报告之后。

Transition care was highlighted as a key issue in theUK Strategy for Rare Diseases在2010年遗传联盟对罕见疾病影响的报告后。他们促进了护理协调员的使用，这是一个在整个过渡期间负责与不同卫生专业人员联系的人。

此外，他们建议使用远程医疗和互联网来扩大可以实际参加会议的人数。早期的过渡计划对于任何罕见的疾病少年及其家人都将很重要，以确保在过渡时进行所有系统。

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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