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Re: Cheers from Sweden!.....treatment

Hi Calle,

I am not from Norge. But a Norwegian Au Pair came and stayed at my home when my youngest chid who has Myotonia Congentia (Thomens's)was only two. At the time, we never knew the diagnosis. It was not until over ten years later that our son was diagnosed, not by DNA yet. But,our dear Au Pair from Norge and I knew something was wrong but the doctor's kept telling us we were crazy. I have not gone for the DNA results yet. I don't need the DNA results and to harm my childs medical insurance as I am awaiting to hear from Jan that is the moderator in this group that insurance in America is finally going to make a difference and not label people with Myotonia Congentia (Thomsen's or Beckers) with Muscular Dystrophy. Muscular Dystrophy and Becker's and Thomsens are two different ball games and diagnosis. Way too different medical diseases with way too many problematic results that is unfair for American's with Myotonia to be labelled with. Or anyone from any country.

As for Norge, I have a wedding planned for my daughter and the Au Pair I mentioned above now has two children and both girls are coming fron Norge to be the flower girls.

So, Hiya Norge...from America.

As Jan mentioned, speaking of illegal drugs is a no, no...and I respect Jan for that so much. Jan knows that she has kids reading here. I, personally, don't let mine read this forum...for the reason that I don't want him to read about illegal drugs that might help him. However, you make a good point as does your other person from Sweden.

I wish Jan could let the topic of illegal drugs be paramount but in the US it is illegal. And, I would venture to say that the harm of the illegal drugs would be more harmful then the proactive response that those who use them proclaim that have Myotonia issues. I'm chatting about becoming addicted. For every good thing that makes one feel good, becoming and addict for that is negative.


Calle, I think, it is best to try to enjoy Jan's protocol in terms of diet, lack of liquor, drugs, and especially all the other stuff that she has reserached that is a no no.

It works for my son. Ole, Ole, Ole. But, I would really love to talk with you.

Re: Re: Cheers from Sweden!.....treatment

Yeah sure. My e-mail address is written above.

/Calle

Re: Re: Re: Cheers from Sweden!.....treatment

Hi Calle!
Another Swede with the diagnosis MC (Beckers). My son Joshua was diagnosed a year ago (he will be six in september). Would very much like to get to speak to others Swedes with the same diagnosis or parents of children with MC. /stefan

Re: Cheers from Sweden!.....treatment

Hi Stefan - I am curious - so your wife also has Becker's or is a carrier? It really is much more prevalent in Sweden then, isn't it? Thanks - Lois

Country: http://

Re: Cheers from Sweden!.....treatment

I am from Stockholm,Sweden, my wife from London, UK, with parents from British Guyana (South America) ie Afro Caribbean.
Hm... I'm not sure that MC is more common in Sweden (or Scandinavia). In some info it says it is but, as we all here know the information on MC can be at worst quite misleading. Our doctors have certainly not said anything about it. Joshua is diagnosed on symptoms and we asked for a DNA test, since as far as we know no one in our families have MC. However the test came back 'inconclusive', there were three parts of the DNA chain that were ' different. We have now asked for tests on us and we're awaiting an answer. To see if we have the same or one of us or if it has somehow 'started' in him. It takes months to get an answer, I think they send the tests to Switzerland.

I also understand that there is Beckers I, II, III, IV etc etc?

Re: Cheers from Sweden!.....treatment

Welcome, Stefan! I hope you get some answers with the DNA testing. Did your son have an EMG that showed myotonic discharges? That's usually how we are initially diagnosed but it can be confused with other types of myotonic disorders such as hyperkalemic periodic paralysis, paramyotonia and myotonic MD. that's why the DNA is so helpful.

I have never heard of different types of Beckers MC...maybe someone else in the forum has more information. There are several types of myotonic MD identified now. With MC we are probably approaching more than 100 mutations but so far it's only divided into the dominant and recessive forms.

Does the cold bother your son? I keep waiting for warm weather so I can stop shivering, but so far no luck. I think we need to start an MC community in Arizona!

Jan

Re: Cheers from Sweden!.....treatment

Thank You!

This forum, and You are Fantastic!

Yea, Joshua had an EMG and the doctor stopped at checking his thigh, because it was an obvious answer already. He also have Hypertrophy(large muscles?) and already has a sixpack...

I think I have misunderstood some info or confusing it - the test came back with a new mutation maybe? The answer was difficult to decipher even for our doctor.

Joshua seems to be suffering more from the heat - already when he was one year old he was lethargic in the sun when we went to The Dominikan Republic. And the other week here in stockholm, when there was a quick 'heatwave' he suffered when out walking.

Cold affects him also but not to the same extent. Both of our sons are indoor kids so sometime it is hard to tell why they want to be inside...

Good luck with everything!

stefan

Re: Cheers from Sweden!.....treatment

We have to be careful in hot weather to get enough sodium. If Joshua gets weak it might be good to get an order to have his sodium and potassium levels checked during a hot spell to see how his electrolytes look. Sometimes it's hard to tell what's going on in the cells but a blood test can be helpful.

The DNA test results can be confusing. If a mutation shows up that hasn't been published it can take some time for researchers to figure out if it's just a harmless mutation that won't cause any symptoms or if it's a new mutation that will have clinical significance. I think this information is shared with geneticists around the world a couple of times a year to update databases. Sometimes a mutation appears to be spontaneous, but usually the ones in question will show up in one or both parents.

The Swedish National Board of Health and Welfare might have a staff geneticist who could take a look at the results for you. I'll paste in their contact information below - you can get a brochure on MC from them.

Jan

An information folder on myotonia congenita, which summarises the information in this database text, is available free of charge from the customer service department of the Swedish National Board of Health and Welfare (in Swedish only, article number 2004-12-178). Address: SE-120 88 Stockholm, Sweden. Tel +46 8 779 96 66, fax +46 8 779 96 67, email: socialstyrelsen@strd.se. Postage will be charged for bulk orders.

Re: Cheers from Sweden!.....treatment

Hi again Stefan - I just wanted to let you know that I also had a MUCH harder time with heat than cold - especially when the humidity was/is high. It makes me feel weak and drained and just lethargic. When I was a kid, my family made us go out and spend hours in the sun, believing it was good for us. I'm fair, and used to get heat blisters. (And now, we live in San Diego, California - go figure!) I also always prefered being indoors after the sun was a few hours in the sky, and didn't want to go out again until shortly before sunset.
And then, I didn't want to go inside! I still especially enjoy being outside in early dawn and after sunset. I have Becker's. Lois

Country: http://

Re: Cheers from Sweden!.....treatment

Sounds just like Joshua!
In the midday heat he loves floting in the pool (if we're somewhere near one, or beach in Stockholm) or being in the shade or indoors.
/stefan

Re: Cheers from Sweden!.....treatment

I always sought out shady places - my family made me feel as though that was a character flaw!! I guess I showed them - now we know that over-exposure to sun isn't good for us!!
My son is Joshua also! (but he's 27!) Lois

Country: http://