我有一个幸运且独特的机会与F（化名）说话，这是一位30岁的女性，患有母性的线粒体疾病：Leigh-like综合征。

利综合症(LS), is a rare, inherited condition; usually becoming apparent in early infancy, with loss of motor skills, vomiting, orseizures。它也可能导致视力受损，并对自己的心理健康造成极大的损失。LS是由于任何线粒体呼吸链中的缺乏或突变引起的线粒体能量的产生缺陷。complex。There are two inheritance patterns: mitochondrial and nuclear gene encoded. F’s case followed the rarer mitochondrial pattern, occurring in around 20% of案例。不幸的是,有无限的基因突变s resulting in mitochondrial疾病。

“I walked into hospital and came out in a wheelchair”.

F was open in telling me about sadly losing her brother to the same condition at 19 months old. When she first developed difficulty walking at age 7, the consultant who also treated her brother told her she was “attention-seeking”. This dismissal resulted in a delay in diagnosis and treatment. At 11, F visited her GP who suggested a specialist. Here, she was subjected to MRI, kidney scans, and eye examinations. These activities can cause harm with such a condition, as demonstrated with F: a lumbar puncture induced headaches lasting 10 years, and a muscle biopsy left her unable to walk. “I walked into hospital and came out in a wheelchair”.F recalled how being restricted to a wheelchair left her feeling excluded from her peers. First experiences of the health service set the tone for a patient’s trust in doctors.

Typically, LS patients wait four years before receiving a definitive诊断。F在12岁时被诊断出来。这个延迟只能因家庭已经失去一个孩子而加剧。因为LS很少在infancy, F did not present with ‘typical’ symptoms and thus was overlooked, despite her family history. For females with maternally-inherited LS, the likelihood of passing on a form of the disease is high. This is an important reason why establishing molecular diagnoses for rare genetic diseases is essential, especially for those making reproductive decisions down the road.

“If you believe in miracles get hoping. There’s nothing I can do.”

F is also registered as severely-sighted, due to LS. At 23, she experienced an abrupt reduction in vision following a chest infection which she described as“就像割眼睛的力量一样”。An ophthalmologist bluntly told her“If you believe in miracles get hoping. There’s nothing I can do.”

It’s shocking to discover such a lack of empathy, with a patient who has experienced such a life-changing health event. A study conducted by Royal Blind established that 85% of respondents indicated that their emotional well-being had been challenged by visual损害。视力损失导致生活方式发生了很大的变化：F最近才实现了一生的驾驶梦想，但她的视力丧失意味着她无法接受测试。她现在只有像素化的视觉，无法阅读或看电视。不管实际改善视力的能力如何，患者都应该得到完全的支持。

Coordinated care is equally essential. On average, patients must travel at least two hours to see specialists at great cost financially and inducing a deterioration inhealth。当需要这些约会时，这足够挑战；然而，有一次，F参加了眼科任命，为火车和酒店住宿付费，但被告知她浪费了这次旅行。医疗保健专业人员之间有效的沟通，以确保任命是有益的，并且加强服务的整合将改善罕见疾病的经验。稀有疾病的性质意味着大多数患者需要与多位专家接触，平均至少参加三个诊所。在英国，有三个位于伦敦，纽卡斯尔和牛津的专业中心，它们是NHS高度专业服务（HSS）的一部分April 2007。Dispersal of specialists into separate centres creates barriers to healthcare.

Technology can reduce limitations imposed by rare disease. F suffers dystonia and cannot walk unaided. However, she can drive her power chair, which offers independence: she travels alone to Liverpool to learn Braille. Her synaptic talking phone offers additional independence. Audio books and description allow for enjoyment of the arts despite increasing sight loss. Atrophy of throat muscles has led to a deterioration in speech which has affected F’s confidence. However, she actively uses social media to remain connected.

F的愿望确保她的诊断并不能阻止她追求独立和帮助他人。她于2010年创立了Leigh Network，该网络通过筹款和每月在线会议来支持受线粒体疾病影响的家庭。

我为了解F的卫生服务总体负面经历而感到难过。她只注意三位医生，她认为她的经历是积极的。一位神经科医生曾经问F，“什么是利综合症？如果您有MS，我可以帮助您。”这种看法必须从医疗的一种无知中变成真正的兴趣和对罕见病患者每天挑战的意识。

致谢：
I am indebted to F and her family for allowing me to use their story in this essay.