Puzzling tests

[AndreaM]

I had my fusion done in 1979 when I was 18 years old. A test I had done not long after diagnosis and before my surgery was an injection of adrenaline (which was a very unpleasant experience). I have often wondered why this test was done and what it would have proved. Does anyone else know what this test was done for?

I am also puzzled about a question I remember the consultant asking me. I was asked if I had any 'brown marks'. I don't think I had but again wonder what that would have signified. Can anyone shed any light on both these issues?

AndreaM

[Pooka1]

Hi.

I don't know about the adrenalin shot but the reason you were asked about brown spots is the association between these "cafe-au-lait" spots and scoliosis in certain genetic disorders including neurofibromatosis.

http://www.google.com/search?ie=UTF-...-au-lait+spots

You can have these spots and not have that condition. One of my identical twins has two spots and the other none. They are being monitored for a connective tissue disorder but not NF.

[LindaRacine]

Hi Andrea...

If the doctor is still practicing, you could ask for a copy of the records. In 1979, they could do just about anything they wanted without permission. So, you may have been part of a study. I can't imagine any other explanation.

Regards,
Linda

[AndreaM]

Thanks Pooka1,

At least I now have an answer about the 'brown marks'. I suspect I may have Homocystinuria and must research whether or not brown marks are also a feature of this condition.

Linda,

The surgeon who performed my surgery retired many years ago but it wasn't him who carried out the Adrenaline test. It is done at a children's hospital, although it may have been arranged by him. I remember that my whole body went into a frenzy with the adrenaline and can recall a nurse saying to another one that she thought I was going to go into cardiac arrest!

Andrea

[Pooka1]

My kids were tested for homocystinuria as it is a differential for Marfans. It is a simple blood test for certain amino acids.

If homocystinuria is in the differential for Marfans then I wonder if Marfans is in the differential for homocystinuria. Have you considered that?

Good luck.

ETA: I think they treat homocystinuria with diet only so that's good.

[tonibunny]

They could have been testing you for Addison's Disease, which is adrenal insufficiency. That would explain why they gave you adrenaline. Addison's Disease can cause skin darkening and brown marks, especially in the creases of the skin (hands, elbows etc). It can present with POTS (Postural Orthostatic Tachycardia Syndrome) which can also be a symptom of Ehlers-Danlos Syndrome, which in turn can be associated with scoliosis.

[Snoopy]

Hi.

...is the association between these "cafe-au-lait" spots and scoliosis in certain genetic disorders including neurofibromatosis.

You can have these spots and not have that condition. One of my identical twins has two spots and the other none.

Doctors wanted to test my daughter for NF, but she refused. She has several brown spots, and because of her Kyphoscoliosis, which progressed even after she stopped growing, her doctors think there might be a connection.

Mary Lou

[AndreaM]

I think they treat homocystinuria with diet only so that's good.

I have severe B12 and folate deficiency despite normal serum levels. B12 shots every two days and daily folic acid keeps me reasonably well but I already have a lot of permanent nerve damage. As this, along with B6 and a protein-reduced diet, is the suggested treatment for Homocystinuria I'm as sure as I can be that this is what is wrong. Unfortunately, by the time I stumbled upon this condition, I'd already been having aggressive treatment and assume this normalised high homocysteine or methmalonic acid levels, which would have confirmed it had they been tested earlier and found to be elevated.

I don't actually have brown spots but see that they can be present in those with homocystinuria as well as scoliosis.

I guess I'll probably never know what caused my problems but there is an awful lot of ignorance in the medical world about B12 deficiency and the many reasons for it as well as the best treatment which is currently a 'one-size-fits-all' policy.

The Addison's Disease connection is interesting as some of those with a B12 deficiency also have this condition.

Andrea