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[02:06.54]·
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[00:00.41] 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.

[00:10.51] Now, this was baby Adam, who had an elastin gene mutation which can be associated with a narrowed aorta.

[00:18.22] Finding out that your newborn has a heart problem, of all things, is absolutely terrifying.

[00:25.13] 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.

[00:33.63] 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.

[00:43.98] 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.

[00:56.20] So she takes a simple dietary supplement every day that's kept her brain safe.

[01:00.98] We give her a daily vitamin to treat her enzyme deficiency.

[01:04.17] We had to get creative at first, but now it's part of our routine.

[01:07.36] I'm just glad we discovered the conditions before there were any symptoms.

[01:11.08] And baby Jacob was one of four children who had mutations that created a predisposition for pediatric or adult onset cancers.

[01:23.30] Now, in his case, the gene was BRCA2 or “Broca” 2, and nobody in the family knew that it was present.

[01:31.00] When we found out, we traced it back to his mother, who was surprised but who could then take action.

[01:38.17] It turns out that I ultimately was carrying a mutation.

[01:42.42] 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.

[01:49.86] So how can we bring this to every family that wants this insight?

[01:55.70] Well, there is a newborn screening system around most of the world.

[02:00.22] It looks for, in the United States, up to 75 treatable conditions, mostly metabolic conditions.