Hi.

I have a syndrome that is so rare it has no name. I have part of a chromosome missing and numerous other gene mutations.

This syndrome causes problems with metal absorption and excretion. Things like zinc, iron, copper etc. I also have chronic B12 deficiency and Vitamin D deficiency.

I am being cared for by a General Physician but in the past I have been under the care of a Neurologist, Oncologist, Geneticist and Metabolic Medicine Physician.

This syndrome can be treated by correcting all the deficiencies and excesses of vitamins and minerals and the thinking is that if I have treatment, I MIGHT, live a reasonable life span. This is not a certainty just a guess.

This syndrome has/is causing bone marrow failure (misdiagnosed as cancer and received 6 months of chemo), joint/cartilage degeneration (including disc rupture), and death of nerve cells in my spinal cord and peripheral nerves. It is also supposed to make me at risk of vascular problems like aneurysms (not yet, cross fingers) and skin problems (lack of pigment and early skin wrinkling/ageing). I have also had some brain involvement which caused an inability to control my blood pressure and I have had three episodes of generalised dystonia followed by an inability to talk which, thankfully was temporary.

My permanent disabilities are......leg hypertonicity and spasming, ataxia and nerve fatigue causing loss of strength very quickly.

I blame my neurologist for these permanent disabilities because he did bugger all when I was first referred to him. My Oncologist sent me to the Neuro when I first started having altered sensations in my feet. The neuro said "there is some slight abnormality in the reflexes, come back in six months". The Onc wasn't very happy so ordered an MRI which came back reported as normal besides bulging discs, bone changes, pinched nerves and empty bone marrow. None of which accounted for my symptoms.

Fast forward another two months, was having trouble walking, losing my balance, altered sensations to my hips/buttocks. Onc referred me back to Neuro who looked at the MRI and said "there may be something wrong in the spinal cord" and that my reflexes were now quite abnormal, to start using a walking stick and come back in three months.

Onc, not happy, so he ordered another MRI and did a lumbar puncture. MRI reported as "lesion in cervical spinal cord on previous MRI had extended into thoracic cord". Not bad considering previous report was normal! Lumbar puncture showed a couple of not so important abnormalities but it did test positive for 14-3-3 protein which is a test for CJD and indicates acute nerve cell death. Sent back to Neuro, who once again did nothing!

Ended up in ED because I couldn't walk or feel anything to just above my breasts (T4). Neuro admitted me and ordered some blood tests. While waiting for the blood test results I was told that I had weeks to live if I didn't get an urgent bone marrow transplant. I finally got an assessment by a physio and was told I was too unsafe to walk without a walker.

When the blood tests came back they showed the metal and vitamin problems. Despite correcting these nutritional problems I was left with permanent neuro damage. The Neuro was labelled a "genius" for discovering my problem but in my mind, he should have done these simple blood tests on my first visit and I wouldn't be permanently disabled. I have been through an awful lot and had a lot of wrong diagnosis and treatments over the last ten years but generally the doctors were trying their best. The Neuro, on the other hand, was too lazy and disinterested to write out a simple blood request form.

He is the one and only person in this whole saga that I detest. I'm not happy with the radiologist who reported my abnormal MRI as normal but my Neuro should have picked up that mistake too.

All in all, it will be a cold day in hell before I trust a Neurologist again.