[Chirley]

As I'm entering a research trial I requested an official copy of the results of my chromosome analysis (karyotype micro assay). Instead of receiving this, I received a copy of the gene study that was done at a Swedish University and that I had been told was negative for the Apt7ase mutation. That was all I was told about this test.

Well, it is negative for THAT mutation but they performed gene studies on neighbouring areas as well. They found three mutations, one of which they have never found before (but is associated with an amino acid called GLU) and another one which has been found in another patient with a copper transport problem. Genetic counselling and ongoing reinterpretation are recommended. I don't think anyone has looked at this report. I suspect they looked at the summary at the end which says negative for APT7ase mutation and filed it.

so now i have 3 homozygous mutations, a heterozygous mutation and the chromosome 15 deletion (that we know about).

I'm very pleased I never had children to pass these on to.

Now it's back to the drawing board and try to get the report I originally requested.

My Physician just rang. My blood test from yesterday is still very good. I'm being admitted next Thursday for copper infusions and will be in hospital Thursday through Monday but only because he is going away for a few weeks and wants to be proactive in keeping my counts looking good.

So now I'm having a smaller dose of copper on fewer days with more time in between and my counts are holding steady and mentally I'm coping a lot better. It's so good to have a doctor who listens and is willing to work with me.

Regards

Chirley