G' morning.
I have copper deficiency myelopathy. It has caused demyelination of the cervical and thoracic spinal cord as well as cerebellar degeneration with cerebellar ataxia. The copper deficiency also causes bone marrow failure for which I've received over 200 blood transfusions. I had chemo for 6 months back in2010 when I started producing cancer cells in the marrow as well.
I have been having intravenous copper treatments for a year or so, which is very user UNFRIENDLY because it's done at Chermside cancer centre and I live halfway between Brisbane and the Gold Coast. I have to have treatment daily one week in 3. I just pee out the copper I'm given because of a gene mutation so this isn't a cure, just a replacement treatment so I've made a new year resolution to refuse any more treatment.
I have been told that I'm going to die in the short term because I'm not having treatment but I haven't had copper for 2 months now and so far I've just noticed my bone marrow failure has gotten a little bit worse and I can no longer leave the house because my legs give up very fast. I have a very good friend who has bought a wheelchair and insists that I go out for meals and social gatherings and she pushes me in the chair.
I wanted to see Tasmania as part of my bucket list and this friend made it possible. We went last October and I enjoyed every part of the trip. I even had the captain of the plane wheel me off the plane when we came back.
The other issue I have is that I have stared getting chromosomal damage. Bone marrow biopsy was always normal for chromosomes but a blood test taken in October shows that I now have one of my chromosomes partially missing. I can't see where any part of acquired chromosome damage is good and I don't know whether it's caused by the copper deficiency or whether it was caused by the chemo. Either way, I think it's the start of the end.
My disease is supposed to be exceedingly rare (definitely the only person in Australia) and might be the only person ever to have this problem.
Lucky me!
When I first got sick I was told by the neuro that there was nothing much to worry about and come back in 6 months if I felt like I wanted to. I don't think they treat anything very seriously until you fall over dead in front of them. Having said that, since I was diagnosed I have been having better care but I think that's because they are writing a medical journal article about me and my "case" is interesting. To the doctors "I am my disease".
I have a police scanner and the cops are calling in road after road as being flooded. They have a horrible job don't they? I'm all tucked up in bed listening to the rain pounding on my roof. I think Brisbane is in trouble again. My uncle died in last years floods so I hope everyone keeps safe this year.
Hope you start feeling better soon.
Regards
Hey thanks heaps for the reply.
Yeah I saw my neuro who wasn't the slightest bit worried about either MS or ALS and said my MRI lesions were not characteristic of MS. Nah do not drink too much alcohol, the liver problems are from eating bad food way too much.
What demyelinating disease do you have? The neuro believed my issues were anxiety and lifestyle related.
Yeah it is pouring down here too very heavily
Hi, I take it you saw the neuro and he said that there was nothing to worry about.
I'm thinking liver problems and gord, perhaps you have been put on a Ppi? If you take a PPI be careful of B12 deficiency. They reduce stomach acid which you need to absorb b12.
Also I don't want to be intrusive but if some of your problems with your liver were alcohol related you may very well be low on the b group vitamins as well. (yeah, I'm from QLD too) so I suggest you ask your GP for a blood test for vitamin levels, regardless whether you drink or not.
I have raised liver enzymes from too much iron but I also have a demyelinating diseae from copper deficiency. Maybe you could have these levels checked as well.
I hope it works out for you.
Regards
Ps. I don't know where in QLD you are nbut it's pouring rain here.
Ok, well everything has been pretty good last few months since I last posted but just recently have started urinating a LOT. I am going about once every hour and a half during the day and getting up about 3-4 times during the night to pee. I am really concerned about MS again but my PCP thinks it could be related to sleep apnea and my weight gain. I have gained 12 kg in 2 months. I have always urinated more than usual but it definately has increased the last few weeks. Does this sound consistent with MS? Would I have seen my neuro too early to diagnose MS? Thanks in advance.
Ok received MRI report, not sure what it exactly means but doesn't sound good.
Non-specific small high signal intensity foci in the periventricular deep white matter best appreciated on the FLAIR sequence without involving the corpus callosum or callosal-septal interface, which may reflect a demyelinating process or vasculitis in a patient of this age group. Suggests performing clinical tests such as visual evoked responses and oligoclonal bands to exclude a demyelinating process such as multiple sclerosis. Otherwise follow up MRI brain can be performed in 6 months time to confirm stability of the lesions. Incidental finding of cavum vergae which is a normal developmental variant. No other significant intracranial abnormality. Fluid in the mastoid air cells on the left side is likely to reflect an inflammatory process such as mastoiditis.
For some reason my doctor still doesn't believe this is MS. Have a neurologist appointment end of Novemeber
Have also found when I curl my toes down on my left foot it will start to tremble. Not sure if this has always happened, is this a symptom?
Thanks a lot for your replies guys, really appreciate it. Have just noticed last couple of days, while walking my legs will drop and I nearly trip. Not sure if this is now because I am just noticing this but it is worrying. Can MS initially have symptoms on symptoms??
I'm certainly not a doctor, but I've been through a lot on my road to a diagnosis, including multi trips to the rheumatologist and reading up on rheumatological diseases.
With the elevated liver enzymes and some of your symptoms, it sounds to me that you may possibly have an autoimmune disease. There is an autoimmune disease that affects the liver.
There's others, too, which include lupus that can cause some carpal tunnel symptoms, joint pain, intestinal issues, etc.
You may also want to look into Grave's Disease which can cause a lot of the same symptoms. This can be ruled out by a simple blood test.
Best of wishes on getting to the bottom of this problem.
Deb
I found out that anxiety will actually cause my hands and face to become cold, and for my extremities to tingle. I have these problems anyway, so it took a minute to sort out what was what! But I'll say that it's quite possible that you're just anxious.
I vote not MS, yoo. My advice is to see your PCP and go from there. He may have some good ideas for follow up after the tests.
Hey guys thanks for the replies. I guess my main worry was the tingling I was experiencing especially because the doc was not sure about it either. Have also noticed pain behind my eye for about 5-7 secs then went away. Have not noticed any vision problems. Have noticed pain in my right fore arm and wrist for some reason too.
I am no Doctor. They sound consistent with liver problems.
Alex
Hello fellow Ozzie, welcome to our little corner of the web. You asked if this sounds like MS at all and I hope you realise that this forum is not the dr forum so we can only offer opinions based on our collective experiences and knowledge.
My personal opinion based on not actually finding anything that jumped out, no particular sx was highly suggestive of MS, it doesn't sound like MS to me. That doesn't mean something isn't wrong though, there are many MS mimics, health anxiety is just one, as is viral etc. I dont actually recall Gerd being one of them but Celiac disease is and Celiac disease can look like GERD. Might be worth finding out more about whats causing the sx that got you dx with GERD, just in case its something more.
Sorry I couldn't be of more help, someone else might have something for you. Please remember that regardless of what medical dx you have or have not, its going to be important to get your stress and anxiety sorted, neither helps you in the long run, so if you haven't done so already, it might be time to see someone about this whilst your trying to find out whats going on, at least it cant hurt.
Cheers..........JJ