[Chirley]

Hi, it must be very frightening at this point.

I don't have any answers for you except to give you a bit of my background.

Over the years blood tests showed my WCC was always slightly low but I remained well. No investigations were done. Then in 2003 I got severe atypical pneumonia and almost died. It was commented on at the time that my WCC was low and didn't respond to the infection but once again no investigations were done.

Later that year I went to the doctor because my hair was thinning and he noticed I was pale and did a blood test. I got a phone call from the lab to tell me to go to hospital because I needed a transfusion, my WCC was also very low.

Anyhow after many months of tests including three BMBs the best they came up with was cyclical neutropenia with iron deficiency anaemia. I became transfusion dependent and my neutrophils regularly dipped into the severely low category.

After a few years of this a BMB finally showed myelodysplastic syndrome and I commenced Vidaza. A progress BMB after 4 cycles of Vidaza showed the myelodysplasia was worsening and they started speeding up the process for a transplant. At this time my neutrophils were often 0.0 and I required 3 units of blood every 2 weeks.

In the meantime I started getting neurological symptoms such as numbness, tingling and loss of balance, at first this was attributed to the chemo. However, just to be safe I had an MRI of the brain and cervical spine and I was found to have a diffuse abnormality in the spinal cord. I also had a Lumbar puncture which was mostly normal except for the presence of 14-3-3 protein which is an indicator for Mad Cow disease. It was determined pretty quickly that I didn't have Mad Cow but the protein being there was still very abnormal

After another month or so I couldn't walk and was admitted to hospital.. After lots of tests they found I had a very low copper level and a very low Vit D level. As well as whacky things like pos ANA. And pos Atypical ANCA.

Anyhow I was started on copper replacement at first by S/C injection and then intravenously. My WCC very quickly became normal with the neutrophils responding very well. The lymphocytes remain low to this day. I also stopped needing transfusions and after my copper level came up into the normal range suddenly my ferritin level which had always been low despite the transfusions, shot up to over 5000. They determined that low copper levels can make some other tests like iron and ferritin unreliable.

I continue to need regular copper infusions because I excrete the copper in my urine which is not normal. I also had a karyotype micro assay performed on my blood and I was found to have a deletion of the proximal section of 15q chromosome which is normally associated with Prader Wiili syndrome even though I do not have any of the typical features of that syndrome. My parents were tested and my mother also has this chromosome deletion.

The Childrens Section of the hospital I go to now test every new Prader Willi diagnosis for copper levels and I'm led to believe they have found two children with low copper levels. So there maybe some part of the chromosome that is deleted that deals with copper metabolism and neurological and bone marrow disorders.

My thoughts are that this maybe just the tip of the iceberg and sometimes diagnosis depends on luck rather than science.

Hope things start turning around for your wife.

Regards

Chirley