h2g2 The Hitchhiker's Guide to the Galaxy: Earth Edition

Working in a medical practice I know how frustrating mothers worries can be, and its not because the doctor doesnt have time or doesnt care about your child, its just that without detailed information or acute visible signs it is difficult for a doctor to diagnose an illness he/she hasnt witnessed.
So in agreement with this lady please, write everything down you notice, even small things like a change in bowel habits or a reluctance to go outside, everything you write down can help a doctor to distinguish the problem.
And remember receptionists are also here to help - routine appointments may not be available for a while but if you explain your concerns and inform the receptionists suffiently then they will do everything in their power to help you as soon as possible. Most of them are not as calious as they seem.

Thanks for vote of support. It'd be good if doctors' surgeries handed out leaflets telling patients how to describe symptoms to their doctor. Doctors must get *everso* fed up of people coming in saying 'Doctor, I feel really awful!'.

Hmmmm-doctors are supposed to be trained-if an untreated type 1 diabetic (which I presume this baby was) presents-then the doctor or whatever health professional is witnessing the disease. Type 1 diabetes is a relatively common childhood disease and it is extremely easy to diagnose by either a urine or finger prick blood test-although onset can be very sudden-it is nothing short of neglect that a dr couldn't identify this before the child became comatose-let alone that she stayed comatose for so long prior to the disease being identified. I don't think it is acceptable to say that doctors have to witness something dramatic before they can diagnose. Vague symptoms-yes but diabetic ketoacidosis is not difficult to diagnose, even in a baby, a smell like acetone, dehydration and weight loss/insufficient weight gain should be easy to spot if sufficient attention is paid by the doctor and diabetes should be investigated as a possible cause before ketoacidosis sets in. Not good enough doctors! Not good enough! If it isn't a lack of time or attention then it is incompetence and I don't know which is worse!

Hi

I just spotted your response, thanks for posting!

My daughter isn't a diabetic, she has an isolated ACTH deficiency, which is incredibly rare, there are about three children in the world like her, which is why it was so hard to diagnose her.

When she went hypo hours after she was born they tested her for diabetes and it all came back normal, which is why they were stumped.

Her problem is related to the pituatary gland only producing some of the essential hormones but not all, just one ACTH isn't produced, and that hormone tells the adrenal glands to work. Without ACTH she has non functioning adrenal glands and doesn't naturally produce a hormone called cortisol, which you need to maintain blood glucose levels.

Although I really wish they could have diagnosed her earlier, it was incredibly difficult for them to properly diagnose her, even now, years later they're still investigating her metabolism, its so unlike everyone elses' - she's rather a cause celebre at the hospital.

I suppose that's why I wrote this article. Sometimes really rare things do happen, and there's a risk that they'll rule out the obvious and then say it's nothing, when actually it is something, but that's not in there books because its a one off.

Since my daughter survived her condition is now documented, and a couple of other children in the world have been diagnosed with a similar condition. Her being documented helped these children to be diagnosed in time and survive, otherwise they - as would she - would have been recorded as a cot death.

Wow, long time ago - my daughter has now reached the wonderful age of 18!

Yeah it's scarily common. My older sis nearly died when she was 2 because a doctor continually misdiagnosed her diabetes as a bladder infection. Luckily a locum saw her and recognised it straight away.