Rare diseases and conditions

[brightsideAH]

Hi all💕
Starting a topic on rare diseases and rare conditions. My son and I have recently been diagnosed with ornithine transcarbamylase deficiency and have yet seen anyone talk about this or had this, which has got me thinking about everyone else and if any of you have a rare disease or condition and we could get a chat going to find others with the same condition are yourself or your children to get support🥰

Much love x

Hi OP, you might want to report this to MNHQ and get it moved to one of the health topics. All the best for you and your son

Hi,
How are you?
I’m currently 17 weeks pregnant with my first. I had cvs done at 13 weeks and it turned out she has OTC. Me and my parter both had blood tests to see which one of us is the carrier. It turned out it’s my partner. This is a good thing as chances are she will also be a carrier like her dad as he doesn’t present any symptoms.
I hope you don’t mind me asking questions. I’m assuming you only recently found out you had it/ are a carrier? Did you present and symptoms at birth or in early childhood.
I’ve been told female carriers have a 20% chance of presenting symptoms. After speaking with a genetic councillor she thinks that this is more like 5% as he dad Also has no symptoms.

How is your little boy? Has he got the condition or is he a carrier. What symptoms does he have and how are you managing them.

Thanks xxxxxxx