“I will never remember all of this”.

我敢肯定，由于我们提供的大量信息，每个医学生都经常有这种想法。当涉及到罕见疾病时，事情变得越来越困难。目前有6,000-8,000个已知的罕见状况，每种疾病影响不到2,000名患者。这使得遇到许多此类条件的可能性极低。但是，罕见疾病统一影响1 in 17 people这意味着，作为未来的临床医生，我们需要考虑如何为可能不熟悉的疾病患者提供高质量的护理。

Fibrous dysplasia (FD) is one of those conditions. With an estimated prevalence of1 in 15000-30000 individuals, it is unsurprising that I had never come across it. Even after researching it I don’t believe I understood how debilitating it can be until I talked to H, an individual with FD, about her experience. It was saddening to hear how FD has severely disrupted her life and disheartening (or at times shocking) to hear about her experiences with healthcare. The chances of me or anyone else coming across a patient with FD may be low but there are many lessons in H’s story that, although seemingly obvious, are important for all good clinicians to remember.

什么是纤维发育不良？

FD是一种遗传疾病，可导致纤维病变在骨上发育。这使骨骼变得更虚弱，因此更有可能变形或断裂。演示文稿高度可变，因为它会影响单个骨头或多个骨骼。此外，骨骼影响患者之间的不同。当前的治疗涉及手术以修复骨骼形状并治疗或预防骨折。Bisphosphonates, drugs that reduce loss of bone density in osteoporosis, can be given to strengthen bone and mayreduce pain in some patients.

H’s story started at 10 years old after her dad took her to a hospital due to pain suffered when walking. An x-ray revealed a lesion believed at the time to be bone cancer, but after a biopsy and six weeks in the hospital, she was diagnosed with FD. Her left tibia, femur, and hip have been affected by these lesions. Since then she has had several surgeries and many return hospital trips for scans and other complications. Her condition has progressively deteriorated over time, to the point where she can no longer work and has difficulty engaging in normal social activities.

第1课：如果您的病人说他们很痛苦，请相信他们

她认为，人们不了解她的痛苦的部分原因是因为她不在拐杖上，看起来“正常”。

这可能出现本能的,然而这是point that H was most keen to get across to me. Historically,FD的描述不会使病情与疼痛相关联，尽管现在许多出版物都承认这是该疾病的潜在体现。以前，她被告知她“不应该”经历痛苦，有些人甚至告诉她痛苦不是真实的。她认为，人们不了解她的痛苦的部分原因是因为她不在拐杖上，看起来“正常”。快速的Google搜索将带来许多故事，使患者认为自己的痛苦没有被重视。这可能会对医生的关系产生不利影响。在任何情况下，拒绝了解患者的疼痛都会使他们感到沮丧和忽视，或者怀疑医生的护理水平。

For H, it seemed that worsening pain was often written off as unimportant or possibly just an unexplained part of the condition. Most notably, her GP once turned her away for back pain after giving her anti-inflammatory drugs despite her insistence that the pain was not normal. She was eventually referred to a back surgeon separately through her rheumatologist where she was found to have a slipped disc. As shocking as I found it to think that her slipped disc was almost left untreated, it made me stop and think about the importance of ruling out any differential diagnoses rather than making assumptions.

据估计43.5% of people in the UK experience chronic pain, making it crucial that clinicians are receptive to patients so that steps can be taken towards attempting to manage it. In H’s case, she is now being treated with painkillers (and occasionally bisphosphonates) for her hip and leg pain. Furthermore, she undertook a pain rehabilitation course two years ago. Unfortunately, she is still in pain every day which restricts her daily life.

Lesson number 2: Sometimes your patient may know more than you

It is important for doctors to be willing to learn from their patient and be open to collaborating with them.

Many patients, especially those with rare diseases, will undertake a lot of research to understand their condition or find new or emerging treatments. Furthermore, support groups are an important source of knowledge and comfort for many individuals. H described how attending meetings has allowed her and other people with FD to learn about treatments available or how to better manage their condition. This information comes mostly from talking to other patients about their experiences (and occasionally from doctors who give presentations). Over time they will become highly knowledgeable about their disease due to their own experiences of living with the condition and the information they have gained from other sources. These patients are often described as “expert patients”. As such it is important for doctors to be willing to learn from their patient and be open to collaborating with them.

Lesson number 3: Be flexible with your treatment plan.

对于极少数情况，通常没有临床途径可以遵循，因为可能没有足够的需求或证据来创建一个途径。在这些情况下，临床医生可能必须进行自己的研究来了解该疾病并制定最佳治疗计划，或者找到更合适的医院。在H的情况下，她发现更多了解这种疾病的医生更有可能听取她的建议并考虑到她的愿望。在她的原始医生21岁时离开后，她觉得自己的新医生对病情的了解有限，并且太快了，无法手术。她告诉我：“这不仅仅是用金属移植物消失。”每个患者都是个体，好医生都可以考虑所有可用的选择并量身定制其治疗方法。

第4课：了解病情的最佳方法是与患者交谈。

在与H交谈之前，我的研究使我低估了FD对个人生活的影响。例如，有关一些网站表明，由于所需的纠正手术的数量，由于对儿童和年轻人的病情非常破坏性，但对于成年人来说，这是较少的问题，因为骨骼不再生长，并且病变不会扩散。对于某些人来说可能是正确的，但是由于疾病的变化性质，不一定是这种情况，some patients may be wheelchair bound.

与所有疾病一样，患者可能会以不同的方式受到影响。但是，由于罕见的疾病可能没有进行足够的患者研究来了解这些不同的表现。例如，H描述了她不断感到疲倦，这在我最初的研究中没有遇到过。但是，一旦承担further research在疲劳和FD上，我发现了最近的一篇论文，发现患有FD的个体通常具有较低的能量水平。尽管是常见的症状，但这些信息显然尚未广泛。与所有疾病一样，花点时间与患有这种情况的人交谈将有助于将来的医生扩大他们的理解，而不是可以通过医学书籍获得的理解。

结论

H的故事使我想起了我要成为一名好医生所需的第一技能：聆听。

Many things can go wrong with the human body and unfortunately, we may never be experts in all 6,000-8,000 rare diseases. As more research and awareness campaigns are geared towards rare diseases, it will hopefully become easier to access guidance for many conditions. However, for cases in which we come across the unfamiliar, it is still important to make the patients feel cared for, do our best to understand their condition, and work to maximise their quality of life. Doctors can learn a lot from patients with rare conditions, ranging from information about the illness itself to knowledge of what can happen to patients whose cases are not straightforward. In my case, H’s story has reminded me of the number one skill I will need to be a good doctor: listening and I mean really listening, to your patient.

Thank you H, for allowing me to use your story to write this essay. I learned many, many things from you, but unfortunately could only represent some of your experiences.