看了网友妈妈的帖子，也做不了什么。干脆分享下今天查的资料（对网友妈妈可能没有用处抱歉了）. 我看得是John Hopkins, Boston child hospital and Mayo clinic d的短篇科普文章。所以知识层面很浅薄。如果你是这方面的专业人士，欢迎补充啊！ 然后如有错误,,请指出 1： 这是个遗传病 X Linked。女生即使有，也mild symptoms，多数只是carrier。所以可能这是为什么一开始发现不了吧。 2： 网上说cerebral ALD 一般孩子，特别是男孩， 4-10是发病期。 3： 看(VLCFAs)指标。太高就值得去查。 查法： genetic screening and MRI screening. 有些州新生儿就查这个指标。但不是所有州。 4： 治疗方案： 基因治疗- 针对有这个病但还没有发病的男孩 越早就越能在情况恶化前治疗。”given early enough, it can halt the decline in brain function caused by the disease. Children eligible for treatment have blood stem cells collected from their blood. These are treated in the laboratory with Lenti-D, a proprietary non-infectious virus that is used to get a healthy copy of the ABCD1 gene into the cell. The treated cells, carrying the new gene, are then given back to the patient by an intravenous (IV) infusion. When these new cells divide and make new cells, they will have the ABCD1 gene and be able to break down the very long chain fatty acids that cause the serious neurological symptoms of ALD.” （原文） 第二种治疗方案就是stem cell transplant （需要批评的donor , 需要化疗，哦） 以上就是我读到的觉得最有用的信息。 感觉就是这种事情要趁早。美国医生资质参差不齐。做妈妈的我们还是要自己武装起来啊。 最后，漏了，错了什么，大牛们请补充。
现在的对孕妇的paranoma screening和carrier testing包括查x linked吗？另外如果妈妈生个新生儿存脐带血能救得了ALD的孩子吗？ 我自己搜了一下basic carrier testing 是包括对x 染色体的测试的，说明在怀孕的时候就知道了母亲潜在什么遗传疾病。 The standard pan-ethnic panel is a basic carrier screening panel that tests for cystic fibrosis (CF), fragile X syndrome, Smith-Lemli-Opitz syndrome (SLOS), and spinal muscular atrophy (SMA). CF is an autosomal recessive disease caused by pathogenic variants in the CFTR gene. It can result in the production of unusually thick mucus, which primarily affects breathing, digestion, and reproduction. CF is a chronic and progressive disease, for which there is no cure. This carrier screen is performed by sequencing and targeted genotyping analyses. Fragile X syndrome is the most common inherited form of mental retardation. It is caused by a change in the FMR1 gene on the X chromosome, so is inherited in an X-linked manner. Within the FMR1gene, there is a region of repeating DNA bases referred to by the letters CGG. The number of CGG repeats present within the FMR1 gene determines if an individual has fragile X syndrome or is at risk to have a child with fragile X syndrome. SLOS is a disorder involving cholesterol metabolism. Some features of SLOS include growth retardation, microcephaly (small head circumference), moderate-to-severe intellectual disability, behavior problems, and physical malformations like distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, and finger/toe abnormalities. The gene associated with SLOS is DHCR7. Like CF, this carrier screen is performed by sequencing and targeted genotyping analyses. SMA is a disease that results in severe and progressive weakness of the voluntary muscles affecting breathing, swallowing, head and neck control, crawling, and walking. SMA is an autosomal recessive condition caused by a deletion and/or pathogenic variant in both copies of the SMN1 gene. Carrier testing for SMA is performed in two ways. First, genetic testing to determine the number of SMN1 gene copies present in an individual is carried out. This method can detect ~90-94% of SMA carriers. The second method of testing is by analysis for a genetic marker (g.27134T>G) that is oftentimes found on chromosomes that have 2 copies of SMN1gene copies, which modifies the residual risk of being a silent carrier. Although this testing can detect the majority of disease-causing pathogenic variants, a negative result does not eliminate the possibility that an individual is a carrier of a rare pathogenic variant that was not identified. Please refer to the residual risk table to determine the risk following a negative result.
我看得是John Hopkins, Boston child hospital and Mayo clinic d的短篇科普文章。所以知识层面很浅薄。如果你是这方面的专业人士，欢迎补充啊！ 然后如有错误,,请指出
1： 这是个遗传病 X Linked。女生即使有，也mild symptoms，多数只是carrier。所以可能这是为什么一开始发现不了吧。
2： 网上说cerebral ALD 一般孩子，特别是男孩， 4-10是发病期。
3： 看(VLCFAs)指标。太高就值得去查。 查法： genetic screening and MRI screening. 有些州新生儿就查这个指标。但不是所有州。
4： 治疗方案： 基因治疗- 针对有这个病但还没有发病的男孩 越早就越能在情况恶化前治疗。”given early enough, it can halt the decline in brain function caused by the disease.
Children eligible for treatment have blood stem cells collected from their blood. These are treated in the laboratory with Lenti-D, a proprietary non-infectious virus that is used to get a healthy copy of the ABCD1 gene into the cell. The treated cells, carrying the new gene, are then given back to the patient by an intravenous (IV) infusion. When these new cells divide and make new cells, they will have the ABCD1 gene and be able to break down the very long chain fatty acids that cause the serious neurological symptoms of ALD.” （原文） 第二种治疗方案就是stem cell transplant （需要批评的donor , 需要化疗，哦）
以上就是我读到的觉得最有用的信息。 感觉就是这种事情要趁早。美国医生资质参差不齐。做妈妈的我们还是要自己武装起来啊。
最后，漏了，错了什么，大牛们请补充。
Auto correct 害死人。 谢谢 已改
ALD有很高的几率办法肾上腺皮质激素减退，可以也查查
第一个方案是最新的基因疗法，据说很有希望的一个治疗方案，不需要donor,用自己的细胞，通过基因疗法把正常的基因注入干细胞里面，再输回体内。这个现在可能还在临床试验阶段。基因疗法有很小概率会产生基因插入位置不当引发的癌症，这个会在治疗后通过分析插入基因的位置来检测。 几率比较小但还是有。 干细胞移植也有可能有问题， 比如免疫系统排异反应。所以都是有风险。两种方法都有治疗成功的可能
最关键的是
不要相信美国傻逼医生！ 孩子看着不对就多问问， 。。。 信美国医生基本不看病就死了大半！看了死得更快。
这个孩子老早就出症状了， 孩子眼底没事， 就该好好查神经 结果医生随便给付眼镜， 长期收个看眼睛的钱， 害了孩子一辈子。
我自己搜了一下basic carrier testing 是包括对x 染色体的测试的，说明在怀孕的时候就知道了母亲潜在什么遗传疾病。
The standard pan-ethnic panel is a basic carrier screening panel that tests for cystic fibrosis (CF), fragile X syndrome, Smith-Lemli-Opitz syndrome (SLOS), and spinal muscular atrophy (SMA). CF is an autosomal recessive disease caused by pathogenic variants in the CFTR gene. It can result in the production of unusually thick mucus, which primarily affects breathing, digestion, and reproduction. CF is a chronic and progressive disease, for which there is no cure. This carrier screen is performed by sequencing and targeted genotyping analyses. Fragile X syndrome is the most common inherited form of mental retardation. It is caused by a change in the FMR1 gene on the X chromosome, so is inherited in an X-linked manner. Within the FMR1gene, there is a region of repeating DNA bases referred to by the letters CGG. The number of CGG repeats present within the FMR1 gene determines if an individual has fragile X syndrome or is at risk to have a child with fragile X syndrome. SLOS is a disorder involving cholesterol metabolism. Some features of SLOS include growth retardation, microcephaly (small head circumference), moderate-to-severe intellectual disability, behavior problems, and physical malformations like distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, and finger/toe abnormalities. The gene associated with SLOS is DHCR7. Like CF, this carrier screen is performed by sequencing and targeted genotyping analyses. SMA is a disease that results in severe and progressive weakness of the voluntary muscles affecting breathing, swallowing, head and neck control, crawling, and walking. SMA is an autosomal recessive condition caused by a deletion and/or pathogenic variant in both copies of the SMN1 gene. Carrier testing for SMA is performed in two ways. First, genetic testing to determine the number of SMN1 gene copies present in an individual is carried out. This method can detect ~90-94% of SMA carriers. The second method of testing is by analysis for a genetic marker (g.27134T>G) that is oftentimes found on chromosomes that have 2 copies of SMN1gene copies, which modifies the residual risk of being a silent carrier. Although this testing can detect the majority of disease-causing pathogenic variants, a negative result does not eliminate the possibility that an individual is a carrier of a rare pathogenic variant that was not identified. Please refer to the residual risk table to determine the risk following a negative result.
是的美国傻逼医生很多的！ 我儿医也是我大的一小时候我就感觉他语言真的发展的很慢。好多自己做的research 里说的red flag 都有。和儿医说了，他总啊啊，孩子小,再等等，多和他讲话。 后来18个月，我实在等不了，带孩子分别去州政府机构和大学医院做了检查，都说孩子发展缓慢9个月。
拿了报告给儿医看，他才refer speech therapist 给我。 这事我想起来就好气哦。不过还好18个月还不算晚。
真的不能完全相信美国医生。
根据此站地图，30州有新生儿测试，20州没有 我今天还特地和儿医确认了，加州有做