第2787期:The Life-saving Secrets In Your Baby(3)

Let me let you hear from a couple of the BabySeq mothers who've gone through this and hear what they have to say about the findings in their own children.让我带你听听几位参与 BabySeq 项目的母亲们的心声，听听她们对于自己孩子检测结果的看法。

Now, this was baby Adam, who had an elastin gene mutation which can be associated with a narrowed aorta.这是婴儿亚当，他有一个弹性蛋白基因突变，这种突变可能与主动脉狭窄有关。

Finding out that your newborn has a heart problem, of all things, is absolutely terrifying. But knowing that we could be proactive gave us some peace of mind that we were doing everything we could do instead of being surprised down the road.发现自己新生的孩子居然有心脏问题，这无疑是极其可怕的。但得知我们能够主动采取措施，这让我们心里多少有些安慰，因为我们已经尽力而为，而不是在未来突然遭遇意外打击。

And in fact, after this mutation was found, a scan found that this baby's aorta was already mildly narrowed, it can now be followed and treated if it gets worse.事实上，在发现这个突变后，扫描检查表明这个婴儿的主动脉已经出现轻度狭窄。如今可以进行随访监测，如果情况恶化，就能及时治疗。

Baby Cora, who's now almost nine years old, was found to have mutations suggestive of biotinidase deficiency, which is absolutely necessary for proper brain development. So she takes a simple dietary supplement every day that's kept her brain safe.科拉宝宝，如今已经快九岁了，她被发现携带提示生物素酶缺乏症的突变。这种酶对大脑正常发育至关重要。于是她每天服用一种简单的膳食补充剂，从而保护了她的大脑。

We give her a daily vitamin to treat her enzyme deficiency. We had to get creative at first, but now it's part of our routine. I'm just glad we discovered the conditions before there were any symptoms.我们每天给她服用维生素来治疗这种酶缺乏。一开始我们得想办法让她接受，但现在这已经成为生活的一部分。我很庆幸我们在症状出现之前就发现了这个问题。

And baby Jacob was one of four children who had mutations that created a predisposition for pediatric or adult onset cancers. Now, in his case, the gene was BRCA2 or “Broca” 2, and nobody in the family knew that it was present. When we found out, we traced it back to his mother, who was surprised but who could then take action.婴儿雅各布则是四个因基因突变而容易患儿科或成年期癌症的孩子之一。他的突变基因是 BRCA2（俗称“布罗卡2”），家里没人知道有这种基因存在。当我们发现后，追溯到他的母亲，她很惊讶，但随后能够采取应对措施。

It turns out that I ultimately was carrying a mutation. I had risk-reducing and ultimately life-saving surgery, and I believe it was the right decision so I could be present for my son.结果发现，我自己最终是这个基因突变的携带者。我接受了降低风险、最终挽救生命的手术。我相信这是一个正确的决定，因为这样我才能陪伴在儿子身边。

So how can we bring this to every family that wants this insight? Well, there is a newborn screening system around most of the world. It looks for, in the United States, up to 75 treatable conditions, mostly metabolic conditions.那么，我们该如何让每一个希望获得这种洞察的家庭都能受益呢？其实，在世界大多数国家和地区都有新生儿筛查系统。在美国，这种筛查可以检测多达75种可治疗的疾病，其中大多数是代谢性疾病。