I have twins who are 3 and both have disabilities but one has complex medical issues - he was diagnosed with a rare transient endocrine disorder at birth which resolved but then there are other health issues which seem like they may be linked but no unifying cause / diagnosis has yet been found for all his different diagnoses and symptoms.
This morning we had to keep him off fluids overnight and take him for a blood and urine test due to excessive drinking and urination. Blood test went okay but we couldn’t get a urine sample as he just wouldn’t go (for the first time ever). Have to try that again another day.
Then I get home to letters from consultants based at a different hospital, including requests for more blood tests - annoying timing as we could have had it done this morning but now he has to go through it again, but can’t be helped.
The letter explains that preliminary genome results haven’t found any known causes for his issues but that they’re checking his results against other gene panels including one for hyperammonemia which I’ve never heard of.
Then it states that he needs an additional test because his serum ammonia levels were slightly elevated - it even gives the level (his was 64, normal range 10-40).
I obviously googled this because I have no idea what it is, and the letter doesn’t say any more about it. Immediate result from google is that high serum ammonia is dangerous, can lead to brain damage and death.
I don’t know what a dangerous level is. All I know is that it’s out of range by what seems like quite a bit to me, but maybe the dangerous range is in the hundreds or even thousands?
This isn’t the first time I’ve had letters where there’s half the information and that half of the information has scared the shit out of me.
Is this normal? Wouldn’t you say something like “this level was slightly high but not enough to be a concern, but we would like to run further tests for related issues” or something?
Don’t get me wrong - I want all the information about my son’s condition but this isn’t all the information and getting it by letter without the opportunity to ask questions is so difficult.
On the one hand I think surely the result can’t be concerning otherwise they’d be getting him straight into hospital, right?
Because these are specialists located elsewhere appointments are annual at most. In fact I’m not even sure if we will see the geneticist again, unless they need to give us bad news (although we’d probably just get a letter!). We don’t have anything booked in with either of them.
I’m going to send an email just to double check that I don’t need to be worried about this. And I’ve emailed his paediatrician because the tests he was having this morning were due to excessive urination so maybe it’s related and maybe she isn’t aware of this result yet (I’m sure it could easily be missed).
Several months ago we got a call out of the blue to schedule a blood test for something really serious and we had no idea he needed it or why he needed it. He’d had some other tests shortly before and I thought maybe those triggered this test. Eventually I got hold of his consultant who had just decided it should be done to be safe, but I spent ages worrying about that.
There have been other examples where getting half the info has left us worrying for ages. Then one time we were told by one consultant that a brain scan was normal, and then a few days later another consultant told us it actually showed damage to his brain.
I’m so stressed I don’t know whether this is just how things are or whether I’m right to think it shouldn’t be like this?
Believe me, I’m incredibly, beyond grateful for the care my boys get from the NHS, I have no idea what we would do without it. Even when things have gone awry (like the supposedly one hour test that ended up with stuck in a tiny room with an autistic toddler who couldn’t eat and has hypoglycaemia for almost six hours) I don’t make a fuss. I’m not a complainer and I really struggle with difficult conversations. Now I’m wondering if my people pleasing tendencies are getting in the way of making sure they get everything they need.
Do other people have the same experience? Or do you just not get the info - I guess this is worse!