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Right before Maggie Matthews and her husband left the hospital with their newborn son, Benjamin, a pediatrician offered one final reassurance. “Well, I don't really have anything to say,” the doctor told the couple. “He looks perfect.” At the time, Maggie, 29, believed it completely. Throughout her pregnancy, the Bucks County, Pa., local underwent every test possible — including prenatal screenings, ultrasounds, genetic carrier testing and non-invasive prenatal testing — and every appointment brought the same reassuring response: everything looked normal.

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00:00I actually remember right before we left the hospital, the pediatrician came in and she's like,
00:05well, I don't really have anything to say. Like he looks perfect. And I'm thinking, well, yeah,
00:09of course he does. I was changing his diaper. He raised his arms up and looked to the right
00:25and his eyes were like fixed to the right. And he just got really stiff and his face got red.
00:33And I picked him up. I was like, did he stop breathing? Like what just happened? And then
00:37he was like, fine. Something like in me just knew that it, something wasn't right. You know,
00:43we called the pediatrician, made an appointment for, I think it was like the next day or something.
00:47And I took him in and I specifically said, like, I think he might've been, I think he might be
00:53having seizures. And the pediatrician checked them all out. She's like, no, he, he looks perfect.
00:59Like it's probably fine.
01:12I remember the one time I was like nursing him and it happened. And I was like, wait,
01:17this is happening. And he's not able to nurse. And it's like, something is really wrong.
01:22We went back to the pediatrician. She's like, she, she was like, if it'll make you feel better,
01:27I'll give you a neurologist referral.
01:36First thing he really says to me is, so tell me about his head circumference.
01:40I just look at my husband with like wide eyes, like something's not right. And he said, no one's
01:46ever told you about his head circumference. It's really small. And I was like, okay. Like I literally
01:53have chills, like telling this back. It was yeah. Um, really shocking.
02:03Like main neurologist. She said, so like we got his results back and, um, Benjamin was born missing part
02:11of part of his brain. And she's like, and the rest of his brain has many malformations. And I'm just
02:17like, like, I'm truly just in complete shock. So she said a lot of children like Benjamin, they
02:23are not able to walk. They use a wheelchair. They need a feeding tube to eat. They aren't able to
02:31talk. Yeah. So it's like, this is your new normal and see you later.
02:46I actually was so relieved to hear that he had TB1A because I went home and I just started like
02:54researching, researching, researching at that point. Um, and I found Facebook groups for
03:01tubulinopathy and like TB1A. I was already like connecting with other parents.
03:06Um, you know, if there's another parent that is like new to this journey, um, and they're feeling
03:21like really lost, I hope that if they find my videos, they just like feel hopeful and, um,
03:32encouraged. This life is not how I imagined it, but just because it's different doesn't mean that,
03:37you know, it's bad or it can't still be like as amazing.
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