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What I Realized When My Son Was Born With a Rare Birth Defect

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While newly pregnant with both my children, I remember thinking about everything that could go wrong — all the possible abnormalities and birth defects. It was scary.

But then I told myself not to worry, because most of those things are rare anyway.

You never think any rare birth defects or abnormalities will affect your child. You live blissfully unaware of it all, until it actually happens.

That was my life until I had my second child, who was born with a rare, complex birth defect called bladder exstrophy (BE), where the bladder is outside the body.

The pregnancy was normal until we had that first ultrasound. They were unable to visualize his bladder on the scan. This was our first sign that something was going on.

Again, I remember thinking and telling myself, “He’s fine; there’s no way he has a birth defect.”

After my next few ultrasounds and the doctors still being unable to find his bladder, I began to Google. I know, I know, it’s bad to Google symptoms. But I started having this overwhelming feeling that something actually was going on. Then, I came across bladder exstrophy. I asked both my obstetrician and my maternal-fetal medicine specialist (MFM) about the possibility of my child having BE. Because it is so rare, they’d never heard of it, and told me I was just being paranoid and to stay off Google.

That’s one of the many hard parts about rare conditions, it’s hard to get doctors to believe you when they’ve never heard of it. It was also hard finding hopeful stories about it because again, it’s so rare. Only about 1 in every 40,000 to 50,000 babies are born a year with BE, so I couldn’t find many stories about it to ease my mind.

I’ve educated so many people on BE since having my son. I am doing what I can to spread awareness, because rare isn’t so rare when you’re living it.

Originally published: March 6, 2018
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