虽然每种罕见疾病在<5/10,000人中被诊断出来，但它们完全影响1/15人。As such, the impact of these disorders is felt by a diverse audience at diverse levels. Due to the rarity of each individual disorder, treatments can be inaccessible in some cases. This means that any new discoveries can have a huge impact on the quality of life of the patient. However, there are still a number of barriers that exist to challenge patients, clinicians and researchers wanting to access new treatments.
如果您过去遭受痛苦并且治疗失败，那么希望由于以前的尝试而遭受破坏，希望会感觉像是一种冒险的奢侈品。
第一个障碍来自对罕见条件的缺乏知识。患者已经从不得不解释自己自己可能难以理解的疾病的劣势工作。对于次磷酸患者，可以看到一个例子，这是一种代谢骨疾病，可以在成年中频繁出现断裂。In response a clinician may prescribe bisphosphonates, believing the patient has osteoporosis. However, as a result the treatment can cause more断裂。有了更高的认可，患者可以获得轻松和信任的感觉。
Additional issues come from the effects of treatment. Fabry disease, a lysosomal storage disorder, can be managed withenzyme replacement。但是，有些患者可能会看到limited effects from this。希望，这是最大的障碍之一。如果您过去遭受痛苦并且治疗失败，那么希望由于以前的尝试而遭受破坏，希望会感觉像是一种冒险的奢侈品。这带来了挑战，即尝试尝试新的治疗方法与潜在的收益更大。
重要的是要注意的是患者的心理负担。没有治愈的慢性病，但可以连续治疗极大的破坏性。对于通过饮食改良管理的疾病患者，治疗的要求可能会导致对饮食控制的痴迷substantial energy to maintain。这些疾病的心理后果可能是巨大的，并且很难拥有能够获得治疗的能量。
实用障碍
实际上，还有进一步的挑战。患有罕见疾病的患者就像其他任何人一样，在获得医疗保健方面可能存在同样的问题（即时间限制，运输等）。沟通也可能发生问题。如果患者对医疗团队说不同的语言，有感觉障碍或学习困难，那么咨询可能会导致对人的需求的误解。
此外，还有经济威慑。由于疾病的稀有性，制药公司可能会收取更多的治疗费用。这意味着，任何治疗的成本通常都是可观的或无法承受的。
改善访问和支持患者
改善医疗访问最重要的行动professionals is achieving a trusting, collaborative relationship with patients. For patients with rare diseases, this can be best achieved with a specialist, highly knowledgeable multidisciplinary team. While this team can provide good primary care to patients, they can also advise other professionals with less knowledge about these conditions, for subsequent care. Provision of accessible support is key to providing proper care to patients so they can believe that everyone is working with them.
[Self-care] is particularly important in the case of rare disorders as the patient becomes the expert in their own disorder and may know more than many professionals.
Another important step is supporting patients to feel empowered to make decisions about their future. Self-care is an important part of the慢性疾病的管理。This is particularly important in the case of rare disorders as the patient becomes the expert in their own disorder and may know more than many professionals.
需要为患者提供信息，以便他们可以使用它来补充他们对自己的了解。与患有这种疾病的其他人的支持小组也可以提供帮助，因为与其他专家会面可以提供新的想法。应该以格式提供信息，以使每个人都可以使用社交故事，手语或任何其他适用方法，使每个人都可以访问知识。
Accessible information then needs to be communicated to the people deciding funding. Through discussing methods to supplement the costs of treatment, or to show the need for new treatments, this can help shape how funding is decided and provide additional research studies.
罕见疾病的患者像其他任何患者一样，需要我们可以提供的最佳护理。尽管目前我们可以为每个人提供的治疗限制，但定期发现更多发现。
While the barriers are evident, with practical and sensitive care it is possible to support patients in trying treatment. I believe that the backbone for this stems from a knowledgeable multidisciplinary team that patients can place their trust in. With practical person-centered support for everyone, this improves accessibility, and further advances which will impact the next generation ultimately aiding patients of the future with the lessons from today.
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