Myopathy, but is it really? Here is what I have been through? Can someone please help?

[BillieJC123]

I am 39-years-old. Female.  October 05 began getting "sick" and have kept getting sicker.  Been DX with MCTD and have been taking Methotrexate and Predisone for it.  CK numbers never went down.  Went to see one neurologist who told me I cannot have two bad disorders so went about life.  Then came the bladder problems, the eyesight problems, the seizures, the muscles cramping, the troubles walking longer distances, pins and needles feeling in my feet and hands at any given time no matter what activity I might be doing, the inability to raise my arms above my head without much pain, the loss of strength, the list can go on and on.  I had a muscle biopsy done.  Shows I have a myopathy.  Well doesnt tell me much.  I get to see a big time doc at a big time hosptial 2 hours from here, but not sure what one doctor can tell me at one visit.  I have lesions in my brain where you find lesions consistent with MS.  Can you have MCTD, a myopathy and MS?  I really am begging someone to answer me.  I posted and go no response and I am a mother with one young child who fears ALS or IBM.. I would like some imput please....  I have MCTD with Reynauds syndrome and I have migraines that just started recently about 1 year ago and the seizures started about the same time.  Things are only growing in intensity.
Thank you if anyone can answer anything for me.  CK Numbers are now well over 3000.

[Quixotic1]

Your course really does NOT sound like ALS to me, but has many features in common with MS.  I certainly can't say that with any definiteness because you have so many other things going on.  I'll be thinking of you.  BTW, I started disease-altering medication today for MS, so I know a little of what you're going thru.  I went from being an exuberant, active, and smart active women 7 years ago to a weak and often befuddled lump in a recliner just trying to make it through the day.  Quix

[BillieJC123]

Thank you very much for your answers.  Its been two years and so far I have only gotten weaker and worse.  I have lesions in my brain, bouts of vertigo, reynauds, actually my list can go on and on.  My last CK test shows my numbers were above 3000 so that is why they decided to do the muscle biospy which shows some sort of myopathy.  So that is the reason now for the trip to Hershey Medical Center.  There is no MD in my family so that is out.  The only other two that are left are ALS or polymyototis (spelling).  I think besides the MCTD that is clearly in my blood as I have high ANA plus the RNP antibodies I am many symptoms of MS.  I am losing my eyesight.  I have already lost half the sight in my right eye and in the last three weeks my left eye has lost enough sight that I will be bringing that up tomorrow as well.    If that first neurologist would have only listened to me instead of blowing me off I feel I could have just gotten my spinal to rule in or out MS since my lesions are in the area of the brain where MS is found.  I just read my reports and it appears my lesions have also grown in the last few months.  No doctor has even mentioned this to me as if this isn't a big deal.  Try as I might I get so mad at this doctors because I feel its my right to know every detail because its my body so its my right to make informed choices and I can't do that without having all the information presented to me.   I just really wanted to thank you for responding to me.  I am going to do my best at following what you said as I am hoping they plan on giving me enough time and hearing me out.  I find that to be a major problem as well.  No one wants to listen long enough.   I spent 8 hours at a nueropsychologist getting various parts of my brain tested to see what level I am now functioning on.  Since this started almost 2 years ago I have gone from being a very smart woman to not remembering how to spell simple words, not remembering left and right, etc etc...... I think if last year if I would have been listened to I could have been given proper treatment and maybe things wouldn't have been able to progress as fast as they have.  My muscle weakness makes it very hard for me to do much walking.  I can't raise my hands above my head for more than 20 seconds without pain.  I get those pins and needles in my hands and feets whenever and whereever and I can't make any connection with what I might or might not be doing.  Before Oct 5 of 2005 I was a very healthy woman who was working 40 to 50 hours a week and now I am a woman who barely makes it through a day.  I just hope they rule out ALS and go from there because ALS isn't something I can handle with a little girl at home.  

Again thank you so much for answering me.  I so appreciate your time.

[Quixotic1]

So sorry to hear of your misery.  We are, indeed, taught in medical school to try to explain EVERYTHING with one answer.  This is to keep our reasoning coherent and tight.  Fine.  The reality is that life is far more complicated, and any doc in practice should know this.  (Yes, you can have the flu AND appendicitis at the same time)  Your neuro blew you off.  Your CK numbers clearly indicate muscle disease.  It's not fair, but one can certainly have more than one bad thing.

Are you taking a statin for cholesterol?

Patsy is right.  People who have an auto-immune  disorder often have more than  one.  Once the immune system goes bonkers it can present in all sorts of ways.  You need a prompt, academic (major academic medical center) evaluation by rheumatology and/or Immunology and by neurology.  It is well worth the drive to get a more expert opinion.

I recommend that you try to do the following in preparation for the specialist.

1) A timeline of the symptoms, lab and imaging results, and the diagnoses you have had from the very beginning - even the MCTD.

2) Get as many medical records - especially consultant's notes and letters - and lab results as you can.  Try to sort them into general order by date.

3) Get copies of all imaging studies like CT's and MRI's, also biopsies - everything.

4) Write down all your new problems - one by one.  Try to include the general order they occurred.  Be as specific as you can.

5) If you haven't already, talk to more distant family members to see if any have had related or odd medical problems.

6) A list of current meds and when they were begun.  A list of old meds and approximately when you took them.

All of this will help with two things.  It will help you be more focused when talking to the new doc.  I also recommend that you send the new doc copies of the really important things so that he gets them at least a week ahead of your visit.  Send a summary letter with the copies - sort of like the posting you did here, but with a little more detail.  This kind of record will help the doc make the most out of that first visit.  It will save time, avoid repeating tests unnecessarily and also give more focus to what additional info the new doc might need.  Don't be too disappointed if the specialist hasn't read them before the visit.  They are incredibly busy, but sometimes they will do a quick read through just before they see you or read along using the records to help direct their questions.

Also take your lists with you.  If you're a normal human being your mind will go blank when they start asking questions.  (Mine does, and I'm a trained professional.  I always do a time-line when I go in.  Usually the specialist thanks me for the help.)

Also sometimes new symptoms called the previous diagnosis (MCTD) into question and the whole thing proves to be something else.

Bottom line is you're doing the right thing to travel to see an expert.  Please keep us informed,  Quix

[patsy10]

Sorry to hear about your problems.  Autoimmune disorders can overlap or be multiple.  My friend has a myopathy and is on prednisone and methotrexate.  All her testing including CPK were normal.  It was found on a muscle biopsy.  They were looking for mitochondrial disorders but incidentally found dermatomyositis.  She's really sick now so they are looking for other disorders as well.  Her sister has autoimmune disorders undiagnosed.  She has seizures, had to have a pacemaker etc.... very sick.