一位罕见病患者讲述了她为寻找迫切需要的治疗方案而进行的奋斗历程。.
作者：希巴·托梅
我叫希巴·托梅，是一位45岁的年轻女性，有一个19岁的儿子。 在那著名的2020年3月之前，我过着平静安宁、充满活力且勤奋的生活；直到那场疫情让世界天翻地覆，宵禁、旅行禁令和佩戴口罩成了全球数十亿人的日常。.
我虽出身于黎巴嫩，但定居于突尼斯，因此并未像其他突尼斯人那样经历新冠病毒的来袭，也没有经历过过度使用消毒凝胶或抢购口罩的情景……在3月和4月期间，我与一种令我难以招架的怪病作斗争，尽管看过了许多不同专科的医生，却始终无法给它下定义。 我隐约记得空无一人的街道，以及弥漫着死亡气息的医院；但最令我记忆犹新的，是被疼痛、高烧、冷汗所折磨，尤其是那种压迫感——有时隐隐作痛的病痛感，它曾将我的生命置于险境。.
没有人能回答我一再追问的问题： 这场磨难什么时候才能结束？ 该给这场灾难起个什么名字呢？在这个将永远铭刻在我记忆中的年头里，我那个刚通过高中最后一年考试的独生子，究竟会遭遇什么呢？
痛苦从里到外蚕食着我，, 我的腹部不断肿胀，健康状况日渐恶化，体重急剧下降：仅一个月就瘦了27磅。医生们一直让我做同样的检查，怀疑我患了肺结核。我从一家实验室辗转到另一家，却一无所获，只为给这种正在侵蚀我全身的病魔找出个名头。.
It was towards the end of May 2020, following the recommendation of two internists, Dr. Aissaoui and another renowned Professor Habib Houman, that an exploratory laparoscopy was prescribed on me to take tissue samples (liver and peritoneum) for analysis. This is how we were able to permanently remove the diagnosis of tuberculosis and I benefited from a protocol directed by Professor Houman who guided the analysis laboratories, asking them to dig the trail of histiocytes. Then begins a mad race between laboratories, institutes, and hematologists, leading finally to the diagnosis of ECD with a BRAF V600E mutation. An announcement that provokes in me a succession of emotional states, going from worry and stupor to sadness, and finally l the acceptance of the diagnosis. Acceptance was mixed with an enormous doubt given the atypical profile of my ECD: systemic histiocytosis with peritoneal location accompanied by refractory ascites. 正是从那时起，我的生活发生了改变，并赋予了新的意义。.
It was while browsing the net that I came across Professor Julien Haroche, a specialist in internal medicine at the Pitié-Salpêtrière Hospital in Paris, and that I understood this disease and its effects on my body. This is the disease that had, I think, attacked the serosa (the outer lining of organs and body cavities of the abdomen and chest) since 2016 when I underwent a pericardiectomy with the removal of the pericardium. Unfortunately, the diagnosis had not been made and the origin of my chronic constrictive pericarditis was bequeathed to non-specific causes.
A visit to Professor Haroche confirmed the diagnosis and the prescription of vemurafenib (brand name Zelboraf) were made following the search for the positive BRAF mutation confirmed in Tunisia. This drug doubled my pain, caused my hair to fall out, and without eliminating the ascites, this liquid swelled my peritoneum and which cost me repeated punctures (also known as a paracentesis, or an abdominal tap, a procedure that removes ascites (build-up of fluid) from your abdomen).
由于我的健康状况未见好转，哈罗什教授为我安排了第二次腹腔镜检查，结果显示未检测到BRAF V600E突变，但磷酸化Erk表达水平较高。[此前开具的维莫非尼对未携带BRAF V600E突变的患者无效。]
In the meantime, I had the chance to know the ECD Global Alliance through which I was able to correspond at length with their Executive Director Jessica Corkran and Dr. Mohamed G. Atta [ECD Care Center Lead at John’s Hopkins Hospital in Baltimore] who gave me great moral support. Moreover, following all our correspondence, Dr. Atta had me send my biopsies to the United States free of charge, which confirmed the diagnosis.
医生给我开了科特利克，还免费送了我一盒样品，它效果惊人，完全消除了腹水。. 遗憾的是，这种药的高昂价格让我完全束手无策，结果我好几个月都没能吃药。.
如今，多亏了ECD全球联盟的支持和帮助，我又重新开始服用科特利克了。我满怀希望，无论怎么感谢杰西卡的善意和坚持不懈都不足以表达我的感激之情。她始终陪伴在我身边，理解我，并和我一起分担我的恐惧与痛苦。.
尽管经历了种种困难，我始终努力从积极的一面看待生活，以此更好地度过这段艰难时期——这得益于我的家人和朋友给予我的坚定支持。 此外，我还要特别感谢哈比卜·胡曼教授一直以来的陪伴与支持，以及朱利安·哈罗什教授宝贵的耐心和始终如一的专业精神。.
多亏了世界各地医生的支持，我对这种疾病的疑虑已经消除了。. 埃尔德海姆和切斯特将成为我的伙伴和朋友，而我必须驯服它们。正是这样，我的韧性得到了增强，对上帝的信仰也更加坚定。了解并理解我们所经历的一切，能让我们尽可能好地应对疾病，尤其是当这种疾病被证实极为罕见时。 与罕见病共存会影响生活的方方面面：身体、精神、社交、职业……设法理清自己疾病的来龙去脉，能让我们重拾某种力量，并通过赋予生命意义，将疾病从敌人转变为盟友。.
接受自己的病情至关重要，同时要大声而坚定地宣告自己能够治愈它，绝不放弃。我已成为这种罕见疾病的专家——这种疾病鲜为人知，就连最负盛名的医生也不了解。.
埃尔德海姆和切斯特成了如影随形的两道阴影，我希望借此为它们揭开面纱。我希望这份证言能有助于推动科学进步，并为埃尔德海姆-切斯特病患者提供更好的护理。.