In cases of rare diseases, the genetic and biological mechanisms of conditions and physical ailments can be great, but this is only the tip of the iceberg. A significant number of patients with rare diseases and their caregivers face constant difficulties concerning mental health. It is indisputable that these patients require more from doctors and medical professionals, to enable them to navigate the physical and psychological struggles they face. There is a need to raise our sensitivity to all aspects of their care to allow for better detection of problems and to deliver the necessary holistic care.

当我被介绍给病人的“ X”及其父母“ Y”时朋友, a charity that supports research into Fibrodysplasia Ossification Progressiva (FOP). FOP is an ultra-rare progressively disabling genetic condition in which connective tissue such as tendons, ligaments, and muscles gradually turn into bone. The condition usually manifests in childhood and those affected often describe it as a healthy mind locked inside a frozen body. They live their lives fearful of minor injuries or infections, which can trigger flare-ups. They suffer from skeletal deformities, stiffness, and chronic pain. The specific pathogenesis of FOP is not well understood and there is no effective treatment. Sadly, the average life expectancy is around40 years。

除了繁琐的医疗保健系统，缺乏资金和服务稀缺性外，他们还认为，在专家和当地服务之间很少有信息有效地共享信息。

X和Y讨论了访问服务的几个障碍，以及Y如何协调X的护理。除了繁琐的医疗保健系统，缺乏资金和服务稀缺性外，他们认为这些信息很少在专家和当地服务之间有效地共享。Y解释说：“即使是，有时他们也不会打扰阅读他的文件。”尽管生物医学的优势是部分归咎的，但FOP的稀有性在身体症状的管理中造成不足。

I will attempt to highlight key lessons I learned from X and Y, in this piece.

士气低落的患者

FOP creates pain, which is demoralizing. It creates disability, bodily disfigurement, social isolation, a medium for being bullied, feelings of dependency, and perceptions of being a burden – all of which are also demoralizing. Demoralization in patients with rare diseases seems to encompass the fundamental psychological elements of disempowerment and subjective incompetence. It creates a sense of futility through knowing their medical situation and by virtue the functional implications are never going to convalesce. Consequently, patients feel and无助和绝望。

最好通过减轻患者的身体或情感压力以及增强其韧性来解决沮丧。在慢性疾病的情况下，由于划定了新的管理计划并积极治疗症状，因此沮丧通常会减少。在最终条件下，当患者相信医生了解自己的担忧，承认他们的痛苦并能够解决他们的问题时，士气低落就可以减少。探索对希望的态度，促进寻找新的目的，并使用认知行为疗法来重新构架负面信念可能是有价值的。

照料者也需要护理

作为单亲父母，Y是X的主要照顾者。在我们的谈话中，Y强调了他们所面临的日常压力和挫败感，以及始终“尝试将其保持在一起”的必要性。这与持续倡导X获得应有的护理的不断需求更加复杂。

Y的职责需要协调X的众多多方面需求，在此过程中牺牲了自己的工作。作为父母，看着您的孩子遭受痛苦是令人心碎的，而您觉得您无能为力。人们对您满足其他家庭成员的需求的程度感到内gui。不幸的是，这意味着使用暂息时间来照顾他们而不是自己。睡眠剥夺，慢性疲劳以及疼痛和疼痛只是身体后果。可悲的是，Y并不孤单。英国有65％的罕见疾病护理人员报告说他们经历了抑郁症，而88％的人报告anxiety and stress。医生或医疗专业人员需要做的是用生物心理社会方法来耗尽所有选择，从而有所作为。

From child to adult

The chronic nature of FOP means that continuity of care is essential in minimizing complications and improving outcomes. Therefore, structured transition programs aimed at effectively moving young adults, such as X, from pediatric to adult services are crucial for closing gaps in care. It also diminishes loss of access to allied healthcare professionals previously available to patients and reduces losses in follow-up rates. We must address additional issues that arise from adolescence including susceptibility to mental health deterioration, independent health care behavior, self-advocacy, self-esteem, sexual health, and advice on education and vocational planning.

Final thoughts

When considering the different ways rare diseases can impact affected families, it is not surprising that they encounter problems with mental health. It is almost irrefutable that additional resources are required to enable them to navigate the physical and psychological struggles they face. Acknowledging suffering, understanding concerns, helping coordinate care, allowing for respite care for caregivers, and ensuring a smooth transition to adult services are some of the many strategies we can employ.