Help!!!The little daughter of my colleges was diagnosed with PAH . She is so young and so cute and her parents are really really nice Christian who are always willing to help. Can not believe it is happening ... Here is a letter from her father. 您好！ Hello 小女丁天琪，两岁十个月，因不明原因的重症肺动脉高压86、心包积液0.5cm，现入住上海市儿童医学中心CICU2，目前心脏四度衰竭，其他生命体征尚可。女儿足月顺产，没有先天性心脏病的症状，于今年七月开始反复呼吸道感染，八月底和九月底分别患了两次肺炎，同时出现局部或全身浮肿、虚弱、无法行走、饭量减少、尿量减少、声音嘶哑等症状，于10月11日通过超声心动图发现不明原因的重症肺动脉高压入院抢救。肺动脉高压英文名pulmonary arterial hypertension，简称PAH。 女儿于10月12日晚转院至上海市儿童医学中心后，除了仍心脏四度衰竭外其他生命体征比较平稳，目前主要使用的药物是美国先灵葆雅公司生产的波生坦BOSENTAN，使用波生坦进行雾化吸入治疗后，应该能够一定程度上恢复心肺功能。院方目前仍未找到她的致病原因，初步诊断为特发性（原发性）肺动脉高压，无法进行手术。 I am writing this letter to plea for your assistance in the hope of saving my 2 year and ten months old daughter Tianqi Ding. She has been in CICU2 of Shanghai Childrens Medical Center since Oct. 12th 2013 due to pulmonary arterial hypertension (PAH). Her symptoms include severe PAH 86、pericardial effusion 0.5cm, and four degrees of heart failure. Fortunately, the doctors have stabilized her condition for the time being by using Bosentan, manufactured by SCHERING-PLOUGH. While stabilizing her, the doctors are trying to identify the root causes of her collapse which will allow them to operate on her as soon as possible. Tianqi was born under a full-term normal delivery in 2010 with no symptoms of genetic heart defects. She has remained healthy until July 2013 when she started showing symptoms of pneumonia, including bloating, fatigue, loss of ability to walk, loss of appetite, reduce of urine volume and sore throat etc. On Oct. 11th, she was diagnosed as PAH via ultra sound. PAH is a rare disease with 1/400,000 incidence. Study showed that most of PAH patience cannot be identified with root causes and have to rely on medication for the rest of their lives. Unfortunately, while there are medications availably in the market for PAH, the only one that is available to Chinese patience with the sponsorship from China charity federation is Bosenten. While effective, it does present heavy side effects to other organs such as liver and kidney, and the life-long usage of such medication will un-doubtfully reduce the quality of life. 肺动脉高压是非常罕见的疾病，发病率只有四十万分之一，大部分病人无法找到病因，只能终生采取降压治疗，愈后效果很差。目前引进中国的药物中只有波生坦这一种药物治疗效果尚可，且有中华慈善总会的医疗援助，但对肝肾的副作用很大，长期服用将降低生存质量。 我们现在需要的帮助依次为： Therefore, we plea for your help in the following order 1、 更全面更先进的检测病因的手段和思路： We appreciate any established testing methods as well as treatment options. 女儿目前仍未找到导致肺动脉高压的原因，儿童医学中心不建议我们目前采用加强心脏CT和核磁共振的检测方式，内科和五官科等也尚未介入，可能是考虑到女儿目前的身体状况无法承受某些检查手段。总而言之，国内的检测思路仍然是排除法，但是我们听说了一种基因检测方法，通过分析她的DNA看是否出现先天性的缺陷，如果是，那么即可确诊为特发性肺动脉高压，不必再承受各种其他复杂医学检查的折磨。不知道哪里可以提供这种基因检测，及具体方法、要求、费用如何？同时，我们也希望得知最新发现的致病原因，以供参考。 Based on the doctors suggestions, we have not introduced testing methods such as 加强心脏CT and MRI, nor we have involved other departments such as internal medicine and ophthalmology into the diagnosing process. We made such decision based on the age of our daughter as well as her current physical condition. However, in order to save our daughter from numerous, painful and time-consuming testing, which eliminate the root causes one by one, we are in the hopes of using DNA test to detect the possible defects in the gene. We would really appreciate if you have the resource/information to guide us to navigate this method such as clinical research results, specific testing procedures, institutions where such testing is offered, cost etc. We would also appreciate if you share with us any new medical research development on PAH to help us understand this decease better. 2、 新的药物： New medication 如果，我们这次能够度过危险期，女儿的心肺功能能够恢复，可以转入后续长期治疗，且仍然无法找到病因无法手术的话，我们希望能够找到比波生坦更好的新的药物的信息，新的药物在美国上市后至少需要一两年的时间才会引入国内，但是如果能够直接联系到美国的医学机构，就有机会得到新药。 If Tianqi were able to make through the next few critical days, and regain her heart and lung function, we would be looking at a long and hard recovery period and potentially, life-long journey of using medication to stable her condition. As we mentioned above, Bosentan has significant side-effects and while it may be the best available at current stage, it is not ideal for recovery and long-term usage. We would appreciate if you have any means to connect us with the medical institutions in the US. This will allow us to enjoy the most updated medical results before it is formally introduced to China and save us at least 1-2 years of waiting period. The Childrens Medical Center has sufficient supply of Bosentan and we do believe that this is the best option for Tianqi at this point. We are gathering information so that when available/possible, we can start using the better/more-suitable medication on her. 我们现在还没有度过危险期，暂时只需要也只能使用波生坦，儿童医学中心这边波生坦药源充足，大家不需要为我们寻找波生坦的采购渠道，大家目前只需帮我搜集信息和找到联系渠道即可，到需要的时候就可以马上联系，节约时间！。 目前已经进入中国的该类药物有十几种，我已知的包括：万他维、波生坦、安利生坦； 朋友们已提供信息的新药包括：全可利、remodulin、sildenafil(Viagra)、万艾可（用于儿童降肺动脉高压的制剂未引入中国）、诺华医药。 3、 用药情况分析： Analysis on the past medications 我已经整理了女儿8月底以来的静脉注射、口服及外用药物的清单（中、英文），目前儿童医学中心这边不认为这些药物会是导致目前病症的原因，但我们仍希望能有港台或海外药科医疗机构，对其中某种药物有新的不良反应病例，以供参考。 I have summarized all medical records of Tianqi since August 2013. Although the doctors do not believe that any of the medications she has taken are causes of her PAH, we still wanted to seek opinions from you to see if any of the medications could have triggered her condition. 4、 医疗援助： Medical assistance 因国内医疗思路有限且后续治疗费用昂贵，我们需要来自世界的最先进的药物或治疗方案，并希望得到慈善基金的帮助。 We have a long way ahead of us to help Tianqi to regain her life and possibly grow up healthy and live her life to the fullest. Thus, we appreciate if any of the charitable foundations can provide us with support either in the forms of medication/treatment or in monetary. 目前我们已经找到的医疗援助途径或信息包括： So far, we have gotten the information regarding to the following medical institutions/medical researchers. （1）医学机构： 香港大学专家、北京阜外医院程显声教授、美国宾夕法尼亚大学肺动脉高压专家沈幼棠教授(You-Tang Shen, University of Pennsylvania)、哥伦比亚大学 usha krishnan, University of Columbia、John T Berger， III，Washington DC儿童医院 （2）相关网站： And related website. phassociation.org/ gatesfoundation.org/How-We-Work/General-Information/Grant-Seeking-Resources https://peph-association.org/ 上述已知信息大家不用重复发送给我了，也不用为我推荐国内其他医院。 Please let us know if you have any resource other than mentioned above. 再次感谢大家广施援手，谢谢大家为挽救一个鲜活的小生命和一个家庭的幸福而做出的努力，铭记在心，谢谢！ Again, we thank you very much in advance for taking the time to save Tianqi and our family. We are committed to do whatever it takes to create the best possibly medical treatment to her and your help will certainly make this happen. 丁天琪的父母 Tianqi’s Parents
Posted on: Tue, 15 Oct 2013 03:44:37 +0000
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