[Chirley]

Hi, I have just returned from a visit with the Prof of Metabolic Medicine.

I can't say I was looking forward to this visit because I found him quite rude and abrupt last time. Well, he was different today. Whew.

I was given the results of my chromosome studies from last visit and I've been found to have del 15q which oddly enough has no prior relationship to either MDS or copper deficiency. So now they are scratching their heads yet again. Apparently he thinks I also have some portions of the same chromosome that while still present, have been switched off.

Del 15q is associated with Prader Willi Syndrome but I have none of the physical or behavioral features (except insatiable hunger, but doesn't everyone). So now, I have ? MDS, copper deficiency bone marrow failure and myelopathy and Prader Willi.....seems like the more you go to doctors the
more they find.

As a result of these findings they are now adding copper testing to the investigations they do on children with suspected Prader Willi, so hopefully my situation might produce some good.

Ferritin remains at 1600 something. I told him that I had decided to discontinue copper replacement and he was predictably not very happy with my decision. He thought I would decline neurologically quite quickly and then he "will be left to pick up the pieces". I told him that as a female I reserved the right to change my mind if or when I couldn't tolerate the symptoms any more. He said it was part and parcel of Prader Willi to be non compliant and that's why I won't do everything they tell me to do. Sometimes instead of telling me to do something it would be nicer if they asked but hey, what would I know, I'm only the patient.


There is a doctor coming here from England in a few months time who specializes in Prader Willi in adults and he wants me to see him, so that could be interesting.

I have guessed the spelling of Prader Willi, that's how little I know about it so I suppose it's Google time again. Life is one long lesson isn't it?

Regards