Baby with pectus excavatum and bendy limbs, feeling worried

[DaringMember]

Hi everyone,

I’m feeling really overwhelmed and could use some advice or reassurance from anyone who’s been through something similar.

My baby had a pneumothorax after birth related to CPAP following my C-section, which was already really scary. Now at 7 months old, she’s been diagnosed with pectus excavatum.

On top of that, she’s quite tall and slim, and seems to have very flexible (“bendy”) limbs. I’ve gone down a bit of a rabbit hole and I’m terrified this could point to something like Marfan syndrome.

I can’t stop worrying about what this might mean for her future and ours. Has anyone had a baby with similar features or concerns? How did things turn out? Were there tests or specialists that helped give you clarity?

I’d really appreciate hearing from anyone with experience or knowledge, as I’m feeling pretty scared right now.

Thank you 🤍

Hi Sorry to hear this, I didnt want to leave this unanswered. My DS 14 has just been diagnosed with mild Pectus Excavatum he did have this as a toddler but tbh we just though it was just the way he was built. He told us the wanted to see a doctor about it and is currently undergoing test to assess its severity. He has been checked for Marfan syndrome and doesnt have it but a minor heart issue Mitral valve prolapse was picked up.
Im on a Facebook group Pectus Support UK which is useful.
What have the doctors said? Are there further tests to be done?

Thank you for your response.
I will check out the group.
She has been referred to specialists at the children's hospital so its an anxious wait ahead for us. Its been classified as semi urgent so hopefully we hear from them shortly. Is your sons heart issue going to affect his quality of life? Or something to watch?

Hi. I have learned a lot from the Facebook group. It mainly seems to have posts from parent of teens but I have seen parents of babies posting on there.

PE is something that seems to be dismissed as cosmetic especially by GPs so it's good that you are getting a referral to specialists. Hopefully you will get the appointment soon.

I actually went through the Marfan symptoms last night and realised that DS does have a few of them PE/M valve prolapse/stretchmarks/high palate/crowded teeth//back pain/thin and tallish but doesn't have a lot of the other symptoms.
The MVP was an incidental finding the cardiologist said with no need for any follow up. But I will discuss this with the PE specialist when all the tests have been done. It is quite common. It hasn't affected him but it something to be aware of for his future as it might get worse when he gets old.