Hi Jan,
Is the testing for Issac's syndrone something my GP can test for and if so what does she need to order? Also is it a very expensive test? I can't get the neurologist to do anything but look at me like I'm stupid and say come back in 6 months. Well over a year ago one of his associates upped my prescription of mexilitine to 250mg.s twice a day. The last time I saw my neurologist he mentioned something about 150mgs a day. When I questioned the mg's and told him I was on 250mgs, he said I was wrong. I said to myself maybe I was wrong. When I got home and looked at my bottle sure enough it was 250mgs and had the other doctors name on it. I called his office manager and nurse and told them about the mix up and the nurse called back and said I was wrong and that the doctor said they didn't even make 250mgs mexelitine. This is the doctor over the MDA clinic I'm dealing with. He is supposed to be the best and I believe in the dystrophies he may very well be but he has no clue about the myotonias and doesn't take anything I tell him seriously. If I can't get it done through my GP or Dr. Lehmann-Horn it won't get done. I have however been in contact with Dr. Lehmann-Horn and he is looking into other areas as for the DNA testing. I was so suprised he actually wrote to me personally. This man has done more for me than all the other doctors I've ever been associated with. Should I mention Issacs Syndrone to him? Would that show up in genetic testing as well. As for the muscle biopsy I had one done just before I started seeing my neurologist. It did show some myopathy and also a vast difference in the sizes of my muscle fibers which ranged from 11 to 88 micros or whatever it is they measure them in. I was told this was way off from a normal reading but nobody can explain what exactly it does mean. Any ideas? I do know this differential in myscle fibers is one thing that will show up in myotonic dystrophy type1. That is one reason why I have been so convienced this is what I have. Needless to say I am way frustrated.

Type of Myotonia: still unknown

Country: USA

Teresa,

You've got to get to a good MDA clinic or a muscle disorders clinic and get the correct testing and interpretation. I hate to think that perhaps there is some treatment available that would stop the progression of what you have, but your neurologist is too lazy to get a consult and order the tests.

How far are you from Atlanta? Is that a possiblity for you? Or can you get an appointment with another neurologist (preferably at a medical school)?

Your GP can order the myotonic profile DNA testing from Athena Diagnostics Laboraty which would include Myotonic Muscular Dystrophy and Myotonia Congenita. Your symptoms really are far worse than MC, but you could have it along with another condition. It's called Complete Myotonia Evaluation and the test code is #147. You can call the lab and get the information about what forms are required.

The test for Isaac's Syndrome is an antibody test that your doctor can order. I posted the information several weeks ago, but you might have missed it. I'll paste it in below.

Jan


Here's the test you would need. If you go to AthenaDiagnostics.com it's test #485, VGKC antibodies. (That stands for voltage gated potassium channel antibodies.)

I don't know if Dr. Lehmann-Horn can test for that. You might ask Linda.

I'll paste in the description below. Ignore the typical presentation symptoms - they're usually inaccurate.



VGKC Antibody Test #485

Type of Disorder: Paraneoplastic Disorders

Typical Presentation: Acute or subacute onset symptoms of limbic encephalitis including confusion/dementia, depression/anxiety and/or seizures or hallucinations

Disease(s) tested for: Voltage-Gated Potassium Channel Antibodies

Test Details

Test Code: 485

Profiles that contain this test: NeoComplete Paraneoplastic Profile with Recombx, NeoComplete Paraneoplastic Profile with Recombx (OLD), NeoEncephalitis Paraneoplastic Profile with Recombx, Neuromyotonia Evaluation

Informed Consent Required: No

Medicare ABN Required: No

Technical Information

Utility: Detection of antibodies to voltage gated potassium channels (VGKC) using RIA

Methodology: Immunoprecipitation

Patents: N/A
CPT Coding

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
Stacked CPT Code(s): 83519(1)

Shipping Considerations

Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.

Preferred Specimen Requirements
Type: Serum
Minimum Volume: 2ml
Collection Tube: Red Top

Storage Conditions: Refrigerate if not shipped same day. Serum stable up to three days. Ship whole blood immediately.

Shipping Conditions: Room temperature, avoid freezing. Ship same day.

Test Turnaround: 7-14 days

Type of Myotonia: Thomsen's

Country: USA

Thanks again Jan. Actually the doctor I am talking about is at the University of MS. He is the only doctor in the state that I know of that deals with mc. He is the (teacher) which might explaine a lot. I wonder if there is another MDA clinic in MS. The only problem with all these test is I haven't worked since August 2011. Money it tight. Even at the MDA clinic I have to pay a co-pay over what my insurance doesn't pay. I really don't get the reason for the clinic if you still have to pay for everything out of pocket. They say the doctor has the say so of where the funds are spent. His thinking is there are a lot more serious diseases out there that the money could be better spent on. That came from another woman who was seeing him for the same reasons. That may very well be but if you don't have a definite diagnosis how do you know how serious the illness is or is not. Anyway I've taken a lot of your time. Thanks again.
Teresa

Type of Myotonia: still unknown

Country: USA

Teresa,

I can't say enough how important it is for you to keep looking until you find a doctor that is determined to get a diagnosis for you. If you just had MC and your symptoms were stable, it would not be a big deal. But obviously much more is going on and you have to be your own advocate.

I don't know what is going on with the MDA lately, but I have been very disappointed in their services in Denver and it sounds like you're running into some of the same problems. They have never charged a patient a co-pay in the past so they must be losing funding. You would do just as well to find a neurology clinic nearby since you have to pay anyway. I would look for a fairly new graduate from medical school. They will be much more educated about DNA testing and will have better research skills.

If you're going to file for SSDI or long-term disability you will need a confirmed diagnosis and there is a time limit. MC is not listed in the SS bluebook, but if you turn out to have DM1 or DM2 you will be awarded disability with no problems.

Jan

Type of Myotonia: Thomsen's

Country: USA

Teresa:
I sent a letter to Dr Griggs at the University of Rochester, in his reply he allowed as how all MDA clinics (Doctors) were not equal. He recommended that I see an expert.

I responded once before that the UT South Western clinic in Dallas had one of the leading doctors in myotonic disorders.

In my case I downloaded the Athena Diagnostic requisition PDF from their website and filled it out myself. The business manager for mt GP filled in the doctors specifics and the doctor signed it.

If you check the "home draw" and FAX the form as instructed on the bottom of the front page they will send someone to you to draw the blood at no additional charge.

If you take this option and prepay there is a 35% discount.

The combined test is for: ZNF9, DMPK; CLCN1; and SCN4A genes. Check first to see that Dr. Lehman-Horn has not already done them. The combined test notably does not include the KCNE3 gene.

Type of Myotonia: SCN4A (PAM?)

Country: NC US