Metabolic disorders

[MermaidMartian]

Has anyone ever been diagnosed with a metabolic disorder?

I got really ill in September and ended up in intensive care for a couple of nights. Doctors' said I had metabolic acidosis but no one could tell me why. So after a lot of outpatient visits and they say I have a metabolic disorder but they're not sure which one yet.

I'm worried of course. I nearly died in September, it came on so suddenly, it could happen to me again, if it's genetic does my son have it, do my brothers have it?

I'm just finding it so difficult to wait for a proper diagnosis. I just want to start doing the right things and looking after myself but I don't have a clue what to do. All of the information I can find seems to be geared towards babies.

Anyone got any experience with this?

I have a metabolic disorder which is genetic. There’s many, many different kinds, so it’s hard to give specific advice.

I had the genetic testing some years ago and it does take several months. My sister and her nieces are also carriers, my daughter doesn’t have it.

I’ve had emergency admissions to hospital too and they can be quite traumatic. What helped me was getting a copy of medical notes, so that I could understand a bit better what happened during that time.

I’ve now seen a metabolic consultant and there’s no real treatment. He’s given me various pieces of advice, the main one is to ‘avoid stress’. Hmmm.

That's the only advice they've given you to avoid nearly dying?! This is just such a nightmare. I feel like there's a big anvil that can drop on my head any second.

How many hospital admissions have you had?

Honestly, it’s not a nightmare. They’re unusual conditions so you need to understand them and when to get help.

My GP wrote me an emergency treatment plan which is on my medical notes and I have a handheld copy. I was unwell last month, so went to A&E with it and was admitted and got the right treatment started within an hour or so. That’s much better than becoming non-specifically unwell and people trying to rule out more common stuff.

I’ve had more advice than ‘avoid stress’ to be fair. My condition affects my liver so there’s certain drugs I can’t take, avoid fasting or too much alcohol and watch out for fevers.

Metabolic acidosis seems a bit more common, so speak to your GP and read up. These conditions are manageable and far better than having something progressive or degenerative like multiple sclerosis.