Such a blooming waste of NHS resources!

[ArnoldBee]

So my DSD needs a blood test to confirm if she has a genetic enzyme deficiency. We as a family know what the genetic implications are, what the blood test involves and it needs to be sent to a hospital in Bristol that deals with this specialism. We know she will be referred for the blood test as we've been through it all with her brother. However instead of the NHS just doing the test we've got to wait a year to see a genetics consultant to waste their time for them to order the test when they could be seeing people with actual issues that need sorting. It's such a waste!

Contact PALS - they can check that your DSD's referral has been triaged appropriately by the genetics team

Putting aside your daughter's right to her own independent assessment, It's a basic tenet of medicine that you should only order a test that you know how to interpret and explain. You may well know what the level means as someone with a vested interest and knowledge, but that doesn't mean that a doctor that doesn't work in that specialty will. Sorry but from what you've said it sounds appropriate. It's a shame there's a long wait.

Precisely this.

You're (presumably) not a doctor, and even if you were, you wouldn't be allowed to treat a family member. Your relative deserves all of the counselling, and information that whatever condition she may or may not have without any of the bias that comes from a family tie, so that she can make her own decisions.

Haven’t seen anyone in the NHS typing up minutes and using little casssettes in the last 20 years.

Wrong thread!

We've just upgraded our computer systems, so that I, the consultant can do all of the admin without a secretary.

I now see 7 patients instead of 12 per clinic. The extra 0.7 of a consultant now required to do the same amount of work as before would pay for 2.5 secretaries.... we also now need twice the number of clinic rooms and nurses etc.

Voice dictation is really quick for the expensive resource (me) at the front end, and moves the admin burden to someone cheap to do at the other. The letters all do get done instantaneously now though - direct to an App and GP within seconds of being seen, same with appointments, still doesn't stop 30% of people not showing up though.

You know that you understand the condition backwards. The doctors can’t rely on family members to always impart all the information needed or to know or remember. Also best practice can change.

Manchester Area - I made a few visits to hospitals in the last 6 months (with my recently deceased mother) and they were never short of staff probably short of beds though. I know a care worker who worked in one of our local hospitals, she was bored as everything was at a slow grinding pace. Never have a problem with GP I use email rather than phone to contact them seems to work.

You can literally get what the enzyme levels mean off Wikipedia.
Dependent on the result she can never worry about it again for herself or any children of hers (if they are normal) or have to wear a red wrist band in hospital and tell everyone she ever encounters that may give her medication of her fatal allergy and have her children tested. We're hopeful that it's literally died out with her father.

Which enzyme?

My husbands a paramedic and we just spent 10 days in hospital with our foster child. Sooooo much avoidable wastage that we see every day. Every visit even. It's madness. I just don't know how you'd solve it.

That doesn't mean that you should. Nor (as a doctor) would you be indemnified to use wikipedia as a reference source in treating a patient. And that's assuming that doctors outside of clinical genetics even have access to that test. This isn't inefficiency I'm afraid, it's just how medicine works.