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Discussion Starter #1
Hi everybody,

I'm not sure if this is where I should be. I have been struggling with a getting a diagnosis for 2 years. I have recently been given a clinical dx of hereditary motor sensory neuropathy. Waiting on genetic testing to confirm.

At this point I think that dx is correct as it runs in my family however, I have a long list of sx that don't fall under that diagnosis. Now I need to get my doctors focused on the rest of my sx.

Long story short.....have been been doing some reading on lupus among other things and I was wondering if I could ask some questions here to help me to get some answers from my darn doctors.
 

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Hi Lynxgal,
Whether it's Lupus or not, you should get those other symptoms checked out.
Better to be safe than sorry.
 

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Hi and nice to meet you.

By all means ask questions, compare notes and share if you want to what blood tests you have had and what doctors your currently treating with.

What kind of symptoms have you been dealing with? Lupus is very difficult to diagnose and not everyone gets a diagnosis right away. Sometimes it is a long road to diagnosis and other times it is almost instant after blood test results and a clinical picture of the history of the patient.

Nice to meet you and glad you found us here. Join us in chat sometime. We do have a lot of fun in the chat room and you get to talk to people and get answers back immmediately.

Hope to get to know you better.:wink2:
 

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Hi Lynxgal,

Welcome to the site.

Is the doctor testing you for Charcot-Marie Tooth? Which way does yours present? Are you having slowed conduction due to demyelination or abnormalities in the nerve signal?

I have sensory motor neuropathy however it affects the nerves inside the spinal cord and brain, not outside. It is not hereditary as in Charcot-Marie Tooth. Initially it was thought to be MS but it was finally diagnosed as Lupus because of bloods and symptoms.

What other symptoms are you having that don't fit in with your diagnosis?

Please feel free to ask questions. We are more than happy to help if we can.

Take care,
Lazylegs
 

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Discussion Starter #5
Hello everyone. Thank you for the welcoming replies.

Yes I am having genetic testing done for CMT. Slow conduction 17-32 are the readings. It is length dependant polyneuropathy.

Here are the sx that don't appear to fit. Episodic vertigo (benign per my neuro). I seem to be having sx of TN now as well. Throat muscle spasms and twitching muscles everywhere( I mean everywhere, face, tummy, back, along spine, feet, hands, legs) including my proximal muscles.

I have developed this redness that comes and goes across the bridge of my nose and on the top of my cheekbones. Never there when I see the doc of course.

I do have fatigue that gets worse with the heat. I have Renauld's which can go along with CMT. I had my right foot go numb for about 3 months and drop foot started. Again that could be CMT but it is finally improving. I can move my toes again. I had horrible troubles walking through the summer and now I am walking very well (this is wonderful!) and the drop foot appears to be reversing finally. From what I understand CMT does not do that.

I have very clear "flares" of symptoms. Then gradual improvement. Almost normal again but the stay around sx are just mild.

My stay around stuff gets worse with my cycle. The only other things I could mention that might help and might not help are:

long history of classic migraines, had H-Pylori about 6 years ago,DVT about 17 years ago, the sun makes me feel sick. I get very tired and woozy in the sun in a very short time. I am VERY meds sensitive and definately allergic to sulfa drugs.

The only blood test results that have been abnormal were folate def. and borderline low b12 about 2.5 yrs ago. Levels of both are ok now. My ESR levels are up and down but never outside the norm.

Wondering if I should request an ANA test and if so when is the best time to do it? When I'm in another flare?

Oh I forgot to mention...I have this weird senstion that seems to come from my spine. It's like a shiver that starts in my mid back and I feel it go up into my brain and then it feels like my brain is shaking for a second and then I'm kind of dizzy for a second but not the same as the vertigo.

I also had brain zaps at the beginning of all this but they seem to be gone now. I was not on any meds of any kind when that started.
 

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The sensation in your spine, does this happen if you put your chin to your chest? I am so sorry your dealing with so much. Gentle hugs to you.
 

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Discussion Starter #7
KarolH;540237 said:
The sensation in your spine, does this happen if you put your chin to your chest? I am so sorry your dealing with so much. Gentle hugs to you.
No it doesn't. It doesn't appear to have a trigger. Happens when it wants to. Thank you for the hugs
 

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Discussion Starter #9
1 MRI w/o contrast 2 years ago all clear except for 3 microangio something or other spots. Doc said they are normal.
 

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Hmmmmmm, OK, In my humble opinion you need a new MRI and it must be done with dye and read by a competant Neurologist.

I say this only because my MRI with out dye is beautiful.
With dye I light up like a Christmas tree with brain lesions.

Also, have you had a spinal tap done?
 

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Karol I agree with you however my doctors do not. I can not get them to listen at all. Now that I have the HMSN dx they are stuck on that and no longer listening at all. I'm going to see the CMT specialist and have genetic testing done on Wednesday.

I was thinking of making a list of the sx that do not fall under CMT (from what I have read) and making him answer my question .... can CMT cause this sx that I have?

No I have not had a spinal either. Tests that they ran were..

MRI w/o contrast - appeared normal

Holter monitor - found PVC & PAC with couplets and triplets (nothing to worry about and not causing my vertio.

ENG/VNG - within normal limits however caloric testing was severely low bilaterally - considered benign Vertigo with unknown cause.

EEG - normal

NCS - confirms length dependant polyneuropathy No EMG preformed.

That is where I am at.
 

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Well ok, then go to the genetics doctor and let him do all the necessary testing that he feels may aide in a diagnosis. If after all of this is done and you still do not have answers then by all means take your records and find a new doctor to treat with.

My first Neuro was dead set on MS. I knew I did not have MS. After a few years of fighting a loosing battle with him I moved on with my records to a new guy. Long story short, he listened and we did a lot more testing and blood work too...................BINGO, YOU HAVE LUPUS.

Moral of the story...........feel free to switch doctors if the ones you have are not working for you but against you. That is YOUR right as a patient and remember, these doctors work FOR you.

Hope this makes sense.
 

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Hi there Lynxgal

Welcome to the Forum.

You asked about the ANA test and when was the best time to do this. In my opinion it would be prudent to get your PCP to run an ANA test but there is no 'right' time to do this because the ANA doesnt reflect disease activity. In fact it only has to be positive (in high titres) once to count towards diagnosis of Lupus. Bear in mind that the ANA can be positive for a number of other reasons and indeed can be positive in a small proportion of the 'healthy population' as well. It really depends on how high the titre is. The highter the titre, the more likely it is that Lupus is causing it.

The other thing to remember is that the ANA might be negative but can change to positive over time. Some people here found that their bloodwork only caught up with their symptoms after a long time. Then there are the small number that have Lupus and are ANA negative - mostly confirmed through a skin biopsy or other very clear symptoms.

I still think it would be worth while getting the test done as if its positive then a referral to a Rheumatologist would be justified. Its the Rheumy who would go on to carry out more specific, specialised antibody testing to try and get to the bottom of things.

The other thing you mentioned was your face 'redness' and that it disappears whenever you go to a doctor. Take some pictures of the rash when its present as this will help in any future appointments.

You have a few symptoms indicative of Lupus, e.g. sun sensitivity, allergy to sulfa drugs (you clearly know a lot of people with Lupus are allergic to sulfa drugs). I know you said that Raynauds goes along with the CMT as well but it can also co-exist alongside Lupus as its another type of autoimmune disease. Also the fact that things get worse around your cycle is worth mentioning as well. A lot of women report that their Lupus symptoms are worse at this time of the month.

Keep a diary of your day to day symptoms for now and perhaps talk to your GP about the ANA test.

If you need any more advice just feel free to post :)

Take care for now and the very best of luck
Joan:rose:
 

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Your other symptoms do not fit into what I have read on CMT, but the information I have found has been limited. Due to your family history it makes sense for the doctors to look at CMT first. However they should not be ignoring your other symptoms. I think more testing needs to be done. If these doctors are not willing to look further you may need to get another opinion.

Take care,
Lazylegs
 

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SAM M
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Hi Lynxgal. I havent been diagnosed with Lupus yet however was diagnosed about 11yrs ago with having fibro-myalgia. Over the last few months i have been having a rough patch and looked up on the internet and stumbled upon lupus. I do have a lot of the symptoms of Lupus its also very clever in as much as the symptoms can change and be very individual !. I just wanted to comment on the twitching ( muscle spasms ) When i first noticed i was ill about 12-13 yrs ago it was the muscle twitching that drove me to distraction as you said it was everywhere in my body everthing twitched. It felt like my body was in a fight and there wasnt any rest at all. That part im happy to say has calmed down but i do get twitches in certain places still now but not all over at the same time ! so i do hope this settles down for you. I also have the spine neck, brain thing again not nice but again it is less often now. After familiarising myself with the sypmtoms and tests for Lupus i printed of the fact sheets and took them to my doctor after looking at my history he conceeded that yes i could have Lupus and agreed to do the ANA Test. The test has come back positive and im now waiting for an appointment to see a Rhuematologist and so it goes on............ This is a great site with lots of support and advice. I hope you start to get somewhere soon and i would say you really have to believe in yourself and if your not happy with what the doctors are saying asks lots of questions and keep at it until every avenue has been explored.
Good Luck To you and take care
Sam xxxxxx:)
 

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Discussion Starter #17
lazylegs;540307 said:
Your other symptoms do not fit into what I have read on CMT, but the information I have found has been limited. Due to your family history it makes sense for the doctors to look at CMT first. However they should not be ignoring your other symptoms. I think more testing needs to be done. If these doctors are not willing to look further you may need to get another opinion.

Take care,
Lazylegs
Thanks Lazylegs for the reply. No the other symptoms don't fall under CMT based on what I have read.....and I have read ALOT! LOL

I'm making my list of questions for the CMT doctor tomorrow. I guess we will see what he has to say! If I'm not satisfied with the answers I make a list of the other sx and see my GP and tell him that we may have found the culprit for this, this & this....but what about these? Maybe I can get him going again. I think I will ask for the ANA test while I'm there.

Thanks again!
 

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Thanks for the reply Joan and all the feedback. I have been keeping a diary of my symptoms for the last 2 years. I brought it once to an appointment with a Neurologist and was told it made me look neurotic. LOL. Good thing I still have a sense of humour! Thanks again!:)
 

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Discussion Starter #19
Hi Sam. I found your post very interesting and would love to chat more. I have to run now but will post again later.
 

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You have gotten some wonderful advise from some of the smartest people on the site, I am not sure that I can add much to it. I did want to say that they are so focused on one thing then I would be asking what I have read does not explain the muscle twitches or the other symptoms that are not linked. See if the doctor has an answer and if he acts like he did not hear you try talking louder he might not of hear what you said. You can also let them know that you are concerned by the other symptoms that do not fit in their box of dx and that you are considering talking to another doctor that might help you figure out what the problem is. Sometimes they don't want to admit they don't know what is going on so if you kinda ask for the referral than that opens the door for them to set through easily. I do hope you find out what all is going on and that you feel better soon. Don't forget we have that chat room would love to see you in there some time.
 
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