[Chirley]

Hi,

I've decided to cease posting in my other thread and to start this one instead because the thread title is more pertinent.

My story so far.

Low WCC noted in 2003 when being treated for severe pneumonia. Later in 2003 found to be anaemic. Received first blood transfusion. Diagnosed with Fe deficiency anaemia. Numerous investigations including BMBs.

Progressive anaemia which became transfusion dependent and BMBs started showing abnormalities along with Fe deficiency. I was told ? Evolving MDS.

WCC started showing severe neutropenia. Finally in early 2010 BMB showed
definite MDS RCMD. Started Vidaza. Repeat BMB after 3 cycles showed increasing blasts. Now, MDS RAEB. 1.

In the meantime I had started experiencing neuropathic pain in my feet and legs and electric shocks in my arms when I bent my neck. This was thought
to be Vidaza related. The neuro symptoms progressed and I started having trouble with balance and eventually had difficulty walking. MRI showed cervical demyelination of the spinal cord. CSF showed increased protein and
the presence of an abnormal protein called 14-3-3. After 2 further cycles of Vidaza it was ceased in case it was the cause and because BMB showed blasts had increased again.

Finally after numerous tests i was found to be copper deficient. By this stage I had cerebellar degeneration and cervical and thoracic demyelination and couldn't walk without assistance.

It has been established that I have a genetic abnormality of the copper transport proteins which prevents absorption of copper from the gut and also
inability of the kidneys to retain copper in the blood. Hence treatment by copper replacement is a chase your tail proposition. No matter how much copper is given intravenously, it will always be excreted.

So far I have had copper replacement in the form of oral copper sulfate (no effect), subcutaneous injections of copper histidine (which did work but were painful and caused aseptic abcesses) and now, ongoing intravenous copper
sulfate.

My bone marrow failure has resolved with just occassional CBC abnormalities and my neurological progression has slowed considerably but I'm not convinced that disease progression has stopped.

Regards

Chirley