[Chirley]

I've just come back from seeing the Prof.

Basically he said I DO have a copper transport problem which causes an inability to absorb copper from the gut while at the same time prevents the kidney from stopping the excretion of copper.

Side effects are aneurisms, joint problems, collagen disorders, heart attack, bone marrow failure, bone marrow cancers, liver failure, stroke, spinal cord degeneration and brain degeneration.

Supplementing the copper either with S/C injection or IV infusion while increasing blood levels may not necessarily increase tissue stores and may therefore not be of benefit in preventing all the side effects.

There are 4 different genes that are known (and more unknown) to be
involved in copper transport (besides the Wilsons, and Menkes genes) and they are hoping to develop a specific test for these gene mutations. There is a drug trial being undertaken for one of the gene mutations that cause copper/iron imbalances but as he's not sure if that is my problem I'm not eligible at this stage.

I asked about the dramatic drop in my Hb a couple of weeks after venesection and whether that had anything to do with marginal bone marrow reserves. He told me that I have iron deficiency??? I told him my ferritin was very high and he said it was a non iron ferritin called apo ferritin and the only way to measure real ferritin and tissue copper was to have a liver biopsy. Yuk! I have a nasty feeling he is going to ask my haem doctor to organize that.

The Prof seems to hate portocaths and insists I should have mine removed and have subcutaneous copper instead, I simply said no, I wasn't doing that.

I asked why I would be stable neurologically for months only to start deteriorating in the last few weeks. He said that all kinds of external things can affect function for example tiredness, heat, concurrent infection etc. and
that hopefully the deterioration is going to be temporary. I need to avoid physical stressors.

Before I left the clinic I had more DNA studies with karyotyping along with iron studies and copper levels.

All in all the visit was very informative if not wholly optimistic.

Regards