[KayoKelly]

Greetings all.
After more numerous Dr. appts than I can count, I recently was evaluated by genetics and demanded to be tested for CMS. Much to my surprise, the doc agreed to test for only one mutation. I had a choice betw. Colq and Dok7 and chose the Dok7. The doctor felt it was not a possibile diagnosis she would consider since I believe my mother was affected and dok7 is recessive. However, I mentioned that my dad also had a unilateral pstosis, so if BOTH or my parents were affected wouldn't it be possible for me to be? But she would not buy it.

My symptoms: Always have been weak and unable to play sports or participate in physical activities but it really didn't interfere with my daily life and I became quite good at making excuses for not participating in PE in school. However, the weakness seems to have progressed in my 20's and during each of my pregnancies ( I couldn't roll over in bed, get out of the car without assistance or get up if I was sitting on the floor). My doc felt it was just my hips spreading getting ready for birth and that seemed logical to me. I have had a few surgeries and noticed that after each surgery I would do fine, but a day or two later feel extremely down as if I was in a fog and my legs were encased in concrete. I could barely move. My last surgery in 05 I notice my neck was incredibly weak and causing horrible neck pain. I was positive that I must've been dropped or my neck wrenched during transfer from the gurney to or table. Then I had an episode where my movements became jerky, my neck was bobbing. I was evaluated by neurology who could find nothing wrong. After many months, my neck improved and then I started having probs with my legs. I couldn't raise up from sitting on the toilet, climbing or descending stairs were a nightmare. I also noticed that when my weakness was most severe, my unilateral ptosis was worse. I asked to worked up for autoimmune myasthenia gravis. My ice test was positive but my labs were negative. The request for an anti-musk was denied by my hmo. My doc felt that I could have negative labs but still have mg so she started a trial of mestinon which I was positive would help, but in fact made me worse. After doing a lot of research, including reading this board, CMS seemed like more of possibility. I obtained some albuterol and ordered some primatene tablets (ephedrine) on ebay. I noticed a difference right away. I emailed my doc and asked if since the mestinon didn't work if we could try albuterol and she said no, instead referred me to another neuro. When I saw that doc, she flat out told me that she has been practicing for 30 years and never heard of albuterol being used for cms. She almost scoffed in my face. She asked me where I heard about albuterol and I cited Dr. Engel at Mayo and her demeaner changed. I didn't have any of his papers with me so I mailed them to her. When I did not hear back, I contacted her she apologized and told me she actually contacted Dr. Engel and was going to refer me to a neuromuscular doc. I had my visit with him and he says he does not think it is cms because i reached normal milestones as a baby but he would refer me to genetics before even considering prescribing albuterol. The genetics doc feels it is not cms because my mother seemed to be affected. So that is where I am at. Just waiting for the dok7 test results. Now I'm wondering if I should have insisted on Colq also? Can anyone tell me what the difference is? Is there a different clinical presentation?

me: 46 y.o. female, seronegative, unilateral ptosis, weakness and easily fatigability since childhood, weak arms, legs, neck, trapezius, normal milestones, poor balance, heat intolerance, odor intolerance, symptoms seem to get worse when I am/was pregnant, after surgery, hot or tired, or when I am in the garden section at stores, using round-up weed killer, weed-b-gone, smell bicycle or auto tires, milk of magnesia, and the day after getting my hair done( used to think it was the heat of the dryer or having my neck in the rinse bowl but now think it may be due to the coloring). I'm sure I am affected mildly compared to a lot of folks, but my symptoms seem to be progressing with age.

[southblues]

I don't know anything about it at all, but what kind of doctor tells you to make a choice about what test to run? He should have done both of them and he should have made the decision.

I hate neurologists.

[pingpongman]

My neuromuscular Dr prescribed albuterol for me. He DX'ed me with generalized MG and CMS since my mother and 2 of her sisters had MG and now we think my sister has MG. The albuterol made me shake too bad so we had to stop it. He said albuterol used for CMS was fairly new. He has the bedside manner of a polecat BUT he is brilliant when it comes to MG. The reason for my shaking is my age (72) plus my MG is pretty advanced. I am now positive for 4 different antibodies. My first bloodwork 2 1/2 years ago was negative.
Mike

[AnnieB3]

Hi, KayoKelly. Welcome to the forum! Well, you've really been through the medical wringer.

Have you ever looked at dominant and recessive diagrams? Even if something is recessive, it does not mean that everyone who has the gene has severe symptoms. If you have 4 siblings with the gene, for example, two might show no symptoms, one might have mild ones and another could be severe!

Are both of your parents of the same ancestry? Sometimes these CMS genes run in families of the same descent. Northern Europeans tend to get CMS's more often, as do some of Middle Eastern descent.

This site would probably help you.

http://neuromuscular.wustl.edu/synmg.html

I cannot believe that they had YOU choose between two tests! OMG, how unscientific is that? Why don't they just blindfold you and have you stick the test tail on the neurologist donkey?

No offense to your neuro but that is just stupid. Money was obviously the guiding force of that conversation.

Have they clearly defined that you get worse with activity? Or do you get better? Or temporarily better, like LEMS patients do.

Have they done both the ACh and MuSK tests? The LRP4 test isn't available yet but it's one more antibody they've discovered.

Do not go near any organophosphates! They make MG/LEMS/CMS worse. They cause too much acetylcholine to build up and can cause neuropathy and, in some cases, death depending upon the amount or time of exposure.

Milk of Magnesia is packed full of magnesium. Too much of that and MG will get worse. A CMS can too. Were you given magnesium during any of your births?

Do you have odor intolerance just to manmade chemicals or to natural things like flowers? Allergies are always a possibility too.

Some people with CMS DO reach normal milestones as a baby!!! Where does all of this algorithmic prejudice come from?!! Were you "clumsy" when you were young? Sometimes signs are more subtle and can easily be passed off as clumsiness of a baby or awkwardness of a child.

What do your parents remember of your childhood?

If you can, keep a journal of your childhood and adulthood symptoms. Think back to whether or not you were as physically active as other kids.

Do you have double vision? In MG, DV is binocular and when you close one eye, it goes away. Have you seen a neuro-ophthalmologist?

I had to laugh about the legs spreading after birth. Give me a break. I know childbirth is difficult but if someone has normal muscle strength, it won't do that to them! It definitely doesn't keep you from rolling over in bed. And changes in hormones can typically make MG worse or better. Where's the scientific logic here? Your docs need to stop seeing you as a woman and start seeing you as a human being who is very sick.

You do know that ephedrine can be harmful, right? Using it on a long-term basis should always be followed by a primary doctor. Have you had an ECG? The same with Albuterol. There are other forms of inhalers, which an allergist or primary doctor can help you with too.

Has anyone thought to do a Tensilon test?

Have you thought about being evaluated by a pulmonologist? They can do specific breathing tests to gauge if you are having trouble breathing due to a neuromuscular cause. MIP (maximum inspiratory pressure) and MEP (maximum expiratory pressure) can show if you are having trouble breathing in or out or both.

I'm sorry you've been through so much. It sounds to me like you've had whatever disease this is for a long time. You do need someone to define if it is MG or CMS. Or both. Yeah, you can have both. Why? Because you wouldn't want to take any immunosuppressant drugs or IVIG for CMS because it's not an autoimmune disease.

I've had MG my entire life. I was diagnosed at age 41 by a neuro-ophthalmolost and at age 42 by an MG expert/MDA Director. I didn't realize I had ptosis until I was 41. I thought droopy was just my normal. I was misdiagnosed with lazy eye at age ten. I always adapted to anything physical and could not do what the other kids could. I was lucky I didn't get much worse before getting diagnosed and treated.

BTW, there are less toxic hair colorings such as that at JUUT or Aveda salons. And some hair colorings have gluten in them. Have you been tested for celiac disease?

If you get worse, where you can move, breathe or swallow well, you need to dial 911. If you have CMS or MG, that's an emergency. Do not get overheated! That can make MG worse.

I hope you will get someone to help you who won't "ration" your health care! You need to know what this is and soon.

Take care of yourself. At the very least, make sure those around you realize how serious this is. When you need to rest, you need to rest. If you don't, CMS/MG will only get worse.


Annie

[brandnu]

Milk of Magnesia is packed full of magnesium. Too much of that and MG will get worse. A CMS can too. Were you given magnesium during any of your births?

Annie[/QUOTE]

Annie- I feel worse with magnesium--what is that about? especially sulphate mag. anything with sulfate I dont usually feel well. and noticed sulphur food like eggs or garlic not good for me either, feel sick.

[KayoKelly]

Sorry, I haven't responded sooner. Was waiting for the results of my DOK-7 testing which was negative. I am so frustrated because I don't think anything further will be done. The geneticist didn't even want to do that test because she felt strongly that whatever I have displays dominant characteristics (although I gave no paternal family history). I asked her what she thought it could be and she said she would not investigate or take two separate paths and since I insisted on the dok-7 that is the path my "treatment would take". She gave no input and now I am wondering if I should have picked the colQ testing or ???. I saw a powerpoint presentation on CMS that gave the order of CMS tests and how they should be done (Duygu Selcen, Mayo clinic) and dok 7 was number 3. My testing was at Prevention Genetics in Wisconsin and I am wondering if they can use the same blood sample to do testing for rapsyn and colQ if I can find someone to order them (I know many physicians but trying to convince one to do it may be tough).

So far I've only had the MG panel that my HMO performs, not sure what exactly it looks for but it was negative. The neurologist wanted to do an anti-musk but it was denied by her chief. I've been through 3 neurologists and am currently working with one that specializes in neuromuscular disorders, the first two had no knowledge about CMS and one laughed in my face until I sent her one of Dr. Engel's papers.

My symptoms are not severe and I've always been able to adapt but about 40 years of age they have become a little more pronounced and interfering with my daily activities. Odors are especially troublesome. Perfumes will drive me up a wall unless they smell like something edible (I can handle fruity, berry, citrus smells). Fertilizers, tire rubber, and weed killers also trigger a reaction. My mother used to insist that a cleaner she had to use in her job made her worse, I looked up the cleaner and it contained glutaraldehyde. That got me wondering because I work with photographic chemicals (developer and fixer) and formalin for preserving lab specimens and have had my job for 25 years. Now I am wondering if I could just have some kind of chemical induced MG but that wouldn't explain my childhood symptoms. Time will tell since we are transitoning to digital and the chemicals will be gone.

I am so frustrated and feel this forum is the only place where there are others like me.

[limpy]

Have you looked into trying 3,4 dap? It is used to treat Lems, but has also been proven to be helpful with CMS. I have Lems and hopefully will be getting my Dap this week.
Here is one reference to its use with CMS, but I have come across many more in my reading on Lems.

http://www.ncbi.nlm.nih.gov/books/NBK1168/
By the way, I have had depressed breathing and a weak and ill feeling in the pesticide department in stores for a long time. I never knew it had anything to do with an illness. Thought maybe I was part bug or something....

[cait24]

KayoKelly, I am so sorry you are going through this with your health insurance. If I were you, I would ask for a Single Fiber EmG and anti-musk antibodies. About 10-20% of MGers are seronegative like me. Single fiber EMG is the diagnostic test for sero-negative MG. It is important to know if you are MUSK positive or not, because MUSK MG responds differently to treatments. MUSK MG does not respond as well to mestinon. And there are other treatments besides mestinon.

How much mestinon did you take and how often? They started on me on 30mg for a week 2 times a day and I felt no difference. When I went up to 60mg 4 times a day, I began to feel the ups and down cycle with Mestinon.

Let me know how you do
kathie

[AnnieB3]

Kayo, I'm very saddened by your situation. No good doctor says, "Oh, well, we had one negative test and, therefore, you're fine." A negative doesn't prove a positive.

Like I said, get some other doctors like a neuro-ophthalmologist and pulmonologist to evaluate you. Maybe even an immunologist. Take photos of your face when you're doing well and then when you're not to see if there is an obvious drooping of any features.

You need a better doctor. This one is obviously more concerned about the bottom line than your optimum health. It might be helpful if we knew where you lived (approx.), in case someone has a suggestion of a good neuro.

Brandnu, Talk to your doc about magnesium. Some people with kidney problems have too much mag in their body to begin with. The other foods might be adding to a leaky gut or bad bacteria overgrowth issue in your GI tract. Again, talk to your doc about it.

I really hope you can get some help, Kayo. You say that your symptoms are "okay" but they aren't really, are they? And they wax and wane like MG or CMS or LEMS. Please call on other docs to help you!


Annie