Cannot get a diagnosis
 

Hi

I am a new member to this forum. I am a 50 year old female and have been having muscle weakness problems especially since the age of 25, but I can actually go back to giving birth to both my boys whom were both premature. One at 26 weeks and one at 30 weeks. I have had balance problems and shaky legs since I was 25, at the first onset I had a total loss of use of my legs and it was put down to being physcosymatic. (all in my mind). I have had periods since of shaky legs and hand locking. As time has progressed so have the symptoms. I have been diagnosed with fibromyalgia, but even my current family doctor doesn't agree that is what it is, the problem now is getting him to believe what I already know, and that is that I have myotonic dystrophy, I read like a text book for this disease, I have severe muscle pain, locking of hands, trouble under anaesthetic, cataracts, loss of hearing, cognitive problems, trouble speaking, sleep apnea, the list goes on and on, right now my doctor is working the racing heart problems, but because family doctors here in Ontario only work on one problem at a time I am not getting a diagnosis. My question is can anyone with this disease in the Ottawa area recommend a Neuromuscular doctor in the area that I can be referred to as I want to either confirm or deny my symptoms, I want a doctor that looks at the whole picture, and not each little piece of the whole puzzle. Can anyone out there help me with this.

Welcome to NeuroTalk:

Have you had genetic testing for Charcot Marie Tooth disease?

http://en.wikipedia.org/wiki/Charcot...3Tooth_disease

No History
 

[QUOTE=mrsD;924425]Welcome to NeuroTalk:

Have you had genetic testing for Charcot Marie Tooth disease?



Thank you for another possibility.:confused:
No I have no genetic testing at this point, I am adopted and biological mother is not forthcoming with any medical information on her side, and will not list any information on biological father. My children both have some problems but it has always been put down to the fact that they were premature. I cannot get my family doctor off his behind need a neurologist.

Welcome KellyAnn,
I'm not sure what sort of health plan you have, but have you thought about looking online for neurologists elsewhere? With the symptoms you have, you should not have to wait to find a diagnosis. There are all kinds of problems that don't show up on "regular" tests and need deeper diagnostics to find out what is going on. Unfortunately, if no cause is seen, there are those that want to just label them as psychosomatic, as was done to you.

Looking can be frustrating, enraging and difficult when you already feel poorly. Do you have any support system? Friends or family who would be willing to help you look?

I understand your feelings. It took years to find someone to not only believe but treat my migraines. During that time, they worsened considerably. At emergency clinics, I was put off and given treatments I had previously had and knew they didn't work. One almost cost me my hand when a drug that clearly wasn't working was repeatedly given IV in the ER. As statistically migraines occur more in women then men, and all tests came up negative, no on would believe that the pain was constant and uncontrollable. You can't give up looking because you never know where you will find the answer.

Be very careful trying to compare your symptoms to syndromes or diseases that are written out. There can be several problems that someone's symptoms seem to fall into and it can be a trap. If you don't already, start a journal and record your symptoms day to day, what makes them worse, better or doesn't help. Keep copies of your medical records, (those are yours and you can ask for copies of them). That way, when you do go into a neurologist, you won't have to regurgitate your symptoms by memory, and it may save time, tests and that "shoot, I forgot to tell the Dr........". Somewhere in there may be the key that a Dr. will recognize. It will also help you go back days or weeks later and look for patterns. It also helps cut down the panic mode and look at it from the outside as opposed to being guided by the fear that accompanies neurologic/pain/weakness.

It would be nice if we could go into the Dr. and just tell them what tests we wanted done and why and get them, but we can't. Sometimes you have to be aggressive about what you are experiencing to get a Dr. to listen. They may not like your approach, but as long as you are insistant, not rude, but insistant, you will get further. The worst that can happen is that you are thought of as a "difficult patient", but would that really matter to you if you were able to finally get things done and Dr.s to listen?

Hang in there and keep looking. I'd say look out of country too, but I'm guessing that like most of us, your funds are limited. I know none of that answers the question you really want answered, but take it as support. There are some good people on this forum from different walks of life. Keep us informed.

Sam

Thank You
 

Thank you Sam for the support, it is really nice to have a place where people actually care and listen. Since I live in Pembroke, ON Canada, my health care is basically the same as everyone else. My closest large city is Ottawa and I will be asking my doctor tomorrow for a referral to the Ottawa Civic Neurolgy department. It really sucks that our doctors in Ontario feel that they can only deal with one problem at a time, so someone like me slips between the cracks because they do not look at everything as a whole. In the last year my symptoms have become debilitating and hence why I have researched my own symptoms, I know I should not self diagnose but I felt I did not have a choice, at this time I just want a good neurologist to look at me and that gives them a place to start and either confirm or deny. I will write on here tomorrow to update the situation, and to let you know if my family doctor is taking me seriously as I have a couple of changes in the last 2 weeks.
Thanks again for the support, it may help to have a place to vent instead of just getting more frustrated and angry, which in turn just makes my symptoms worse.

Nice to meet you!!
 

Doctor today
 

Hi Everyone

I have a doctor's appointment today, am asking for a referral to a neurologist, wish me luck, I think I am going to need it. My Doctor only sees you for one thing at time, I always grew up thinking the body was all connected, I need someone to look at the whole picture. Hope everyone out there is having a good day.

Doctor's
 

Hi Everyone

I have a doctor's appointment today, and am asking for a referral to a Neurologist. Please wish me luck, I am hoping to convince my GP that I need a doctor who looks at me as a whole and can put all the puzzle pieces together and not just look at one piece of that puzzle. I hope everyone is having a good day.

Hi KellyAnn
 

Your PCP should be able to refer you to a neurologist. Also consider a physiatrist, who treats the "whole" person at a cellular level. They do look at the whole pictre. I wish you success. Be assertive, and do ask for what you need. ginnie:hug:

I am so frustrated, and Angry
 

Well the doctor's appointment was a bit of a wash in the fact that I didn't get what I wanted, but I guess he made a bit of sense at the same time. I am so tired of being in pain, and having no energy to live my life. He says he understands but I doubt it, because he is not living it. He says he is going to start knocking things off my list one at a time, and see what we are left with, 14 years of knocking with different doctor's is driving me crazy. He put me on cymbalta, does anyone know anything about this drug. After 2 weeks he wants to add neurontin and then maybe either prednizone or lyrica after that. I hope this regimen works.:(

Hi KellyAnn,
I merged your threads together here in the New Members forum, to help keep the information together until you get a diagnosis or find a "home" forum from our list of forum topics -
http://neurotalk.psychcentral.com/index.php

You can try searching some of your main symptoms using the search link in my signature, and see what comes up.

I may have missed it, but did you have an MRI yet to rule out some of the more basic things?
And a full blood work up?

Do you keep a calendar, log, or journal of symptoms and when they start/stop?

No MRI at this point numerous ct scans, blood work has been all over the place for the last year, new family doctor in the last 2 months is starting at the beginning because he says all the symptoms I have do not come under any one thing and he is going to try to knock some of them off. I have numerous issues and when I do up a complete list there are over 30 symptoms so he says he needs to knock some of them off, and start back at the beginning I am tired at being at the beginning, I want a diagnoses it sucks not knowing. After 14 years and my with the certain conditions we know I have you think it would be easier to get the diagnoses. I feel like maybe I am going crazy and it is all in my head.

Please help
 

I did not realize until I came on this forum that being B12 deficient could be an answer to most of my problems, I need some help from someone to discuss with me how worried I should be, especially since I am taking sublingual 1000mcg a day and symptoms are no better. I have been diagnosed with malabsorption in years past. I tried to discuss it with my GP today but he said since I am taking the pill form I do not need to have my levels checked. But from what I am hearing they should be checked regularly especially with malabsorption. My symptoms are worsening and I can't get this guy to understand any help would be appreciated. I asked for a Neurologist today and denied a referral please HELP

Dear KellyAnn
 

Dear KellyAnn,
I can't tell you exactly what to do, but I can say, I don't like any of the drugs your doctor is recommending you be on. Not everyone can even take neurontin with the side effects. Prednizone, is a louzy drug to take with a host of side effects. Please look up these medications, including cymbalta before you agree to take them. Also if you possibly can look into that kind of doctor called a physiatrist. You don't necessarily need a referal. It just sounds like your doctor is throwing drugs at you, in hopes something will work. That is not the way I would go. I have gone a more natural route, with this physiatrist I have, and I am improving the quality of my life.
In the past I was put on all three of the medications you mentioned, I won't do that again. I really do understand your frustration with your PCP. I went to alot of doctors before I found one that really helped, and without so many drugs. Keep hope alive that things can get better. ginnie:hug:

Re: about B12
 

One more thing KellyAnn, the first thing this doctor did was put me on B12 shots. The improvement started almost at once. ginnie:hug:

Thanks Ginnie

I appreciate the info. I understand what you are saying about the medications, because I do not do well with them because of my malabsorption, I either don't absorb it or absorb to much depends on what my trinsic factor can break down and what it can't. I will definately look into a physiatrist and see if they can help.:hug:

Hi KellyAnn
 

I really hope you find a doctor, that can help you more. The B12, really made a difference. I did not know that taking a proton-pump inhibitor prevents the absorbtion of B12 until Mrs.D told us. I learn alot more right here on NT, than I ever did sitting in a doctors office.... I do wish you all the best. Feel better soon. ginnie:hug:

Hi! Kelly Ann. I understand exactly how you feel as I was in the same kind of situation.
Does this sound familiar?
I had History of sporatic attacks of severe lower back pain, last 7-10 days at a time.
Put on pain killers , gradually goes away, but keeps coming back for years.
Dr. say lumbar disc L4\L5 degeneration (sciatica).
Did physiotherapy and chiropractor, pain killers etc.

Around 1999 I went to a G.P. with irritable bowel syndrome, fatigue, sporatic pain
and stiffness in muscles and joints, and general malaise.
He thought Clostridium Difficile infection in bowel and ordered stool samples
and blood tests. Results all clear. But no resolution to my problem.

In 2000, More tests, stool again, this time (Positive) Blastocystis Hominous,
great I thought, just give me anti-biotic and I'll get better. WRONG!
Got worse.... no resolution.... above symptoms persisted.

2001-2002 Seen by Gastroenterologist , tried restrictive diets, no wheat, milk etc.
No solution to problem..... multiple colonscopies, x-rays, CT-scans, MRI's.
Liver biopsie, possible chronic pancreatitis.... put on digestive supplements.
Still ill.

2003..... Journey continues ..... same symptoms as above but this time
balance off , memory and cognitive dysfunction, sleep disturbances etc.
Thought all caused by recuring pain. Sent to Rheumatologist.

2004....2005......2006 treated by rheumatologist for arthritis (osteo).
Basically, given anti-inflamatories i.e. Bexstra, Celebrex , Vioxx .
Pain controlled but other symptoms persist.

I'm in a nightmare..............

2007 ..... Because of the extreme fatigue, PAIN, cognitive dysfunction, sleep
disturbances, muscle & joint pain..... given diagnosis Fibromyalgia.
First given Rx Nerontin..... and later Lyrica for pain control.
At last have something to control pain!
Other symptoms persist!

2008 .....Right hand starts with mild sporatic Tremor. Perhaps old age?
Gradually gets worse, and starts affecting whole arm.
Bingo! I Got it! Parkinsons disease!
Wait 9 months to see Neurologist, but I knew it was Parkinson's Disease
after researching it on the Internet.
Immediately put in for retirement while waiting to see Neuro.

2009.... After 9 month wait to get in to see Neuro, get positive Diagnosis.
Put on Sinemet ...ahhh what a relief... that med is.

Finally! after 10 years..... get diagnosis.

Question:
Why did it take 10 years of suffering to get proper diagnosis & treatment?
Is this your experience too?

My Experience started 25 years ago ath the age of 25 when I lost the use of my legs for a total of 8 months, in hospital for 2 of them to be told it was psychosymatic. Seemed good for a couple of years, and then had incidents of shaky legs off and on for the next 12 years.
1998 I had a hysterectomy as I had been having alot of problems in the area. Seemed to take for ever to recover and went back to work in 6 months but this seemed to make things worse all of a sudden I was suffering nausea 24-7 bowel problems severe fatigue severe acid reflux, stomach pains all the time then overall body pain stressed out to the max
gp sent me to gastro specialist and I was diagnosed with malabsorption.
2001 diagnosed with possible pancreatitis put on enzymes, seemed to help for awhile. but I was always in pain and tired sent to a Rheumatologist diagnosed with fibromyalgia. Put on Lyrica helped with the pain for a bit but then stopped working. Jump ahead to 2007 I had to quit work for pain in my hips it felt like my pelvis was broken. went back to school seemed fine after 2 years off work 2009 everything started all over again. Now add trouble breathing felt like someone was sitting on my chest, choking at night, itching, so sick and tired of being tired and sick,, eased off again in 2010 and went back to work April 2011 had surgery to repair inguinal hernia and I went back to work after 3 months and was back off work again by February 2012 and it is not getting better it is getting worse and my doctor isn't listening I need a neurologist, I know it is either MS or a form of MD like you I know it but I can not convince him he says there is no disease on the planet that covers all my symptoms, but I disagree and will be proving it to him at our next appointment.
I hope you are doing well now, and hopefully I will soon be like you and have a diagnosis and be on the road to better quality of life.