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.

Myelogirl,

Anger is normal and understandable, and venting is permitted.
The 5 Stages of Loss and Grief
These stages also apply to any life-changing event, including chronic illness.

The question IME is what to do with the anger and other negative emotions/feelings we go through. We can let them consume us, or we can channel/focus/use them in more constructive/positive ways.

The Japanese have a saying I try to follow: Fix the problem—not the blame.

IME, playing the blame game doesn't help. It doesn't accomplish anything, and it can be self-harming.

In the long run it doesn't matter how you got where you are (medically) because it can't/won't change anything. You are where you are and can only look/go forward from here.

I think there may be some folks here with some ideas on how to help you proceed and move forward. Some of that may involve seeking out a better neurologist—I don't know. There is good information here on vitamins, supplements, and nutrition. There are years of experience & wisdom of past & present members in the forums and archives.

Like I said, venting is ok. Is there any way anyone here can help you?

Doc

Thanks for the reply.

I thought I was past the anger until I recently needed a referral for surgery. The surgeon wouldn't operate until he got a report from my Physician and the "Neuro from hell".

The Physician okayed the surgery but the Neuro (who I have not seen in over one and a half years) vetoed the surgery with the reason being that "I had no chance of improvement in my mobility as the damage is permanent". I need to have the torn cartilage in my hip fixed because even if it doesn't help my mobility it will decrease the pain.

It seems just when I'm picking myself up, doing the physio and rehab, improving my general health and stabilising my disease, this Neuro comes back to haunt me. He has told me a number of times that I'm going to die a horrible death, he tried to have me sent from the hospital to a nursing home. He never offered any Occupational therapy referral or physio referral. I had to ask my oncologist to refer me to rehab because the Neuro thought it would be a waste of time. I tried to change Neuros but the new Neuro I went to just told me to go back to my old Neuro. My old Neuro won't take my appointments (hence one and a half years with no neuro input). The only time I tried to make an appointment in that last year and a half, his secretary wouldn't make the appointment and said he would ring me. He did ring a couple of weeks later and asked what I wanted. I told him I was having bad leg spasms and spasticity. He told me to take some Valium and there was nothing else he could do.

I didn't even realise I was angry until I asked my Physician for a referral to a Psychiatrist because I was depressed. When I saw the psych, he said that he didn't blame me for being angry because my medical care had been appalling (he read all my medical charts). I told him I wasn't angry, just sad and hopeless. That was a week ago and I'm starting to realise the psych is right. I do have anger that I'm holding on to. This is the very first place that I have ever expressed that anger. I've never even let myself think it before now.

It feels good to dish the #+*# on him. I realise that anger and blame get you nowhere and I don't intend to hold on to it but, right at this moment it feels cathartic.

I have already moved on by making an appointment with another surgeon but this time I'm going to say that I don't have a Neurologist and that's not going to be a lie. Old Neuro done, dusted and in the bin!

As the psych said....no one has the right to tell me I can't improve, that I'm not in denial and I'm not delusional, I'm simply an optimist.

I don't have a problem with anger; I have a problem with misplaced anger and pigeonholing/stereotyping because they can tend to lead/send us in wrong directions—sometimes to our own detriment.

I thought about spinning a story about a fellow I once met from Australia who deceived me/led me on, finishing with the punchline, "All in all, it will be a cold day in hell before I trust an Aussie again." In fact, I've met quite a few folks from Down Under over the years, and had nothing but good experiences. But I think you get my point. I'd be surprised if there's anyone here on Neurotalk who hasn't had at least one bad experience with doctors (I know I've had my share ), and some have had so many they could be considered "pros".

This perplexes me; I can only speculate. I've changed specialists before, and the only question that came up was whether it was for a 2nd opinion or "change of care" (i.e. changing doctors).

This second neuro obviously didn't want you for a patient for some reason. I have no idea what that reason was/might be.

I don't know if this will suggest anything or not...
A Letter to Patients With Chronic Disease

What I take away from it is that possibly (and again I'm just guessing) your case/condition scared this second neuro. He may have assumed there was nothing he could do for you, so didn't want to take you on. This would definitely discourage—if not depress—me, but I would not let it deter me from seeking/finding a neuro with the interest/knowledge/guts/compassion to take my case on. I went through something similar with both surgeons (for inoperable spine issues) and neuros (for chronic headaches/migraines). I went through a half dozen neuros in ~five years before I found one that actually knew enough about chronic migraines that he could—and did—help me. He was the one whose practice specialized solely in headache/migraines. There may be a neuro that specializes in cases like yours(?) I would think it worth the effort to find, if only to get an ok on the hip surgery. Pain can be an excellent motivator—that's its primary function. I'd also hate for you to suffer any more than you already have needlessly.

Back to anger, I don't know how familiar you are with the Kübler-Ross model (other than my previous link), so please forgive me if you know all this stuff. I know it's helped me—and many other folks here—tremendously to understand this about ourselves—knowledge is power. If you're not familiar with it, I encourage you to read up some more on it (as applied to chronic illness/your own situation) and use it to your own benefit.

There's no schedule or progression to these "stages"; they can come in any order (including 2 or more at the same time), last for any duration (hopefully we progress, but we cannot force it), and we may return to—or go through—some stages 2 or many times. Fun, fun, fun...

Personally, I have trouble with the "acceptance" stage, because like you, I refuse to accept my fate as hopeless (though the articles say that's not what that means) ...and that's not denial either.

Another pattern of chronic illness (chronic pain in particular) I've found it helpful/useful to be aware of in order to recognize and cope/deal with it is the vicious cycle. The vicious cycle invariably involves chronic pain and depression, and other symptoms depending on the individual and their condition(s)/illness (e.g. anxiety, insomnia, isolation, stress, weight control, etc.) Again, knowledge is power.

Doc

Thanks Doc. I feel lost Will Robinson.

While I do have chronic pain, it's not the pain that gets me down. It's the disability. The constant day after day struggling to get out of bed only to sit in the lounge and look at four walls.

My life is interspersed with medical visits and hospital visits but very rarely anything social. It's been almost 4 years since I could drive or work and I can't take my motorised wheelchair on the buses here. I either have to catch maxi taxis (very expensive and reserved for medical visits) or the community bus (requires booking many days in advance, but is a good service) or the ambulance. The ambulance won't take the wheelchair and I can't climb up the steps, so I have to go everywhere on a stretcher and have no independence at the other end.

You are right about stereotyping Neuros but there aren't many to choose from where I come from and they are a little community in themselves. The second one I went to was a lady Neuro and as soon as she saw my referring letter, that I wanted to change Neuros, her whole attitude changed. She changed from welcoming and pleasant to terse and abrupt. She never examined me and I was out the door within 5 minutes. It's not as if I make a habit of doctor shopping or criticising one doctor to another because I know that's instant Coventry. I had only ever been to that one previous Neuro, one previous Oncologist, one previous Physician (whom I'm still with). I had been with the same GP for over 20 years until he retired. I agree that she did say that she knew nothing about my illness and she specialised in MS but I keep getting told that I'm the only one with this disorder in Australia. I'm not going to find a Neuro who knows about my problem, so does that mean no medical care at all?

My old Neuro was okay until he presented a paper at the Oceanic Congress of Neurologists about my case. He would display me to his med students, residents and registrars. I was used for their exams. Then one day he just didn't want anything more to do with me. I don't think I did anything to precipitate this. I keep wondering what I did. He is an educated, intelligent, knowledgeable person....so it must have been something I did.....but what?

Anyway, I must move on and accept the fact that I no longer have any Neuro input and probably never will. I tried a couple of other Neuros but some aren't accepting new patients at all and a couple only accept patients that fit their speciality....eg...TBI, MS etc. the one I was interested in seeing, specialises in Movement Disorders but there is a 14 month wait for an appointment and only if he accepts the referral (you have to be interested in DBS).

You were right to pull me up about generalising about Neuros.....damn silly of me. Sometimes I think the brain damage is causing mood swings but again, maybe it's just an excuse for my behaviour. The psych told me that he wants me to go back to some kind of work. He said that I'm too driven and intelligent (blush) to sit staring at four walls all day. I have worked since I was 14 years old and now I'm 57. I chose to have a career over family, unfortunately I can no longer do that kind of work because it was physically active.

Sometimes I feel like nothing is ever going to change and I'm going to keep sitting in my chair staring at four walls and waiting for God. Then other days I feel that something is just around the corner and things are going to improve. If I didn't have the days of hope it would be awful.

I think I've reached the acceptance stage (just bypassed anger on the way, until now) but accepting reality doesn't mean accepting defeat.

Thanks for taking the time for a good debate and conversation.....I miss face to face banter. Always loved a good argument or debate. Oh, and I'm learning to accept truth and criticism (only took 57 years).

Are you able to go to a community pool? I would be lost without the pool at the YMCA. I get to socialize with all my Y friends. I am very fortunate to have a very supportive husband who is also disabled. I also love to read. It can be hard to focus on positives when you have lost your independence. I also find this website supportive.
Redcat

Hi redcat. I did try hydrotherapy which I loved but the Physio said that my balance was so bad that I wasn't allowed in the water without an assistant. They wanted me to go two to three times a week at $75 a session. It simply isn't doable.

I applied to go through the public hospital system but they assessed me and refused. They said they don't take patients with chronic conditions only people requiring short term post trauma therapy.

The ridiculous thing is that I have a Disability pension and Private Health Insurance but neither of these cover hydrotherapy. I am on a Chronic Health Management Plan which means I get 5 free physiotherapy sessions (in a lifetime) which I have already used. If I ask to be placed in a residential care rehab centre, I can get all the help I want at no extra charge but I love my little home, with my own bed and my two cats and a dog.

It's a case of whether I'm willing to give up what makes life worth living (my pets) to improve my quality of life (possibly). The short answer is NO.

I have no spouse or children but I do have elderly parents and a brother (mostly MIA). I did have a circle of friends but these have diminished over time because I no longer go out to socialise. I have one very good friend left but she has her own difficulties with family, so I don't vent to her at all. I have another not so reliable friend but she travels all over the world all the time and I'm never quite sure where she is. I think she's on a European River Cruise at the moment.....but I could be wrong!

I'm very lucky compared to a lot of people. I have my own home, some savings, a steady income, a good friend and I have always been okay with my own company and I feel reasonably well. I just have to come to terms with a body that doesn't want to work.

It's good you have the pool to look forward to and a husband to share with. Little things can mean a lot.

Thanks for elucidating. We may have more in common than being here.
I miss a lot too, and feel the frustration of disability/inability.

I didn't think we were arguing/debating; that wasn't my intent, anyway... And I didn't mean to criticize—just sharing some experience. Ah, the pitfalls of written exchange... You're correct, of course—face to face is better/clearer to read body/facial language and gauge reaction.

I wish I had more suggestion-wise for finding/getting care.

Doc

(I had to look up "coventry" in that context; apparently it's a British idiom we don't often use here.)

Hi, pets have always been an important part of my life too. Could you get a volunteer to go with you to hydrotherapy? To graduate from high school here in ontario canada students have to have so many volunteer hours. An alternative depending on affordability could be hiring a personal support worker. There are a few personal support workers who bring clients to the YMCA pool. Here one can deduct an expense such as this from their income tax return.
I don't want to assume just because you are Australian you can swim, but if you can you could possibly stay in the deep end. I stay almost entirely in the deep end. My body works best without all the gravity.
Redcat

Hi Doc, it just didn't occur to me that "being sent to Coventry", wasn't internationally recognised. I'm glad I imparted something new. My first positive for the day.

You're comment re: cold day in hell before you trusted an Aussie, was so relevant. That's why I assumed we were debating. I loved it. I love having my flawed thinking and the way I express them criticised. I mean criticism...in a good way, in a learning way, in a self improvement way. We don't always see ourselves as others see us and sometimes society is just too polite to set us straight. (and sometimes not so polite )

I also have the added problem of having a degree of Autism (proven by chromosome analysis) and need feedback from others to determine if my thinking, behaviour and reactions are within societies norm. That is part of the reason I wanted some reassurance (or not) from the Psychiatrist that my reactions and emotions were normal and justified. I was a bit shocked to find that I had skipped anger, in the process. I'm still trying to process that emotion, not sure I'm doing it right. I'm trying to hold onto it so I can resolve it but it keeps seeping through my fingers and leaving nothing but despair. I feel anger is a positive emotion and despair is lack of emotion. I'm pretty sure I'm wrong but I'm willing to learn the truth.

You are very articulate Doc. Do you work in education? Journalism?

I used to be a research assistant in the healthcare setting. I never did anything brilliant, just the hard slog of data gathering and cross referencing within given parameters. Others would set the task and I would do the practicalities including consenting participants for research studies etc. I enjoyed it even if it was a tad undemanding and at times, boring. I rarely saw the results of the research. The data etc was sent off to some University or other to interpret and I would have moved on to something else. It involved a lot of walking and delving into files in rooms full of archived material. Ahh, I can smell the dust, age and mould as I type.

I can't believe I used to love "Lost in Space". What was the robots name again? I remember he was always saying "warning, warning, warning". I need someone like that in my life.

Do you have a thread Doc? I feel I'm at a disadvantage. I understand you have pain and disability and have had the medical run around but I don't know if you have given your history elsewhere on here. Maybe you have kept that private and I shouldn't be asking.

Nice to chat.

Bye.