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Re: finally a name to it

Thanks for the quick response. It has been a long couple weeks since my son put a name to his symptoms. His father and I divorced when he was very young and we have had little or no contact since. However looking back I do recall once his father playing softball and after hitting a long fly ball I vividly remember him running stiff-legged and how odd it looked. Especially when he was almost thrown out at second base. We never talked about the incident.

I do intend to reach out and advise him of this recent diagnosis. Hopefully to open his eyes and possibly to help himself if he grew up with this also. Plus since our split he has had twin girls who are around 5 years old.

Funny you mentioned the military. My son signed up for 8 yrs not long ago. 4 active and ( combat ), and 4 reserves. He was able to pass the physical agility by "warming up". Fortunately I was able to talk him out of going the day he was to get on the bus for boot camp. I was worried he would not be able to react in a timely manner to danger when warranted.

This is all new, well in a way. Finally knowing what we are dealing with was enough to bring tears to our eyes. I have to admit the medicine /EKG thing is a little worry some. But, I think that because my son has lived with this for so long, he wants to try it. Hopefully to get some relief from the symptoms. His are stiffness after rest, STAIRS, hand shake, eyelid opening slow at times. No pain though, thank god.

I will tell my son about this forum and hopefully he will partake.

He is to start Mexiteline 150 mg BID Sat Sun Mon and an EKG Mon afternoon.

Type of Myotonia: Thomsen

Country: USA

Re: finally a name to it

One of my daughters was in the military and also passed all the health and fitness tests. She didn't have a confirmed diagnosis at the time. I believe the way it used to work was if you were diagnosed after you were already serving, you could stay in the service, but you had to remain stateside. The main reason for this was the potential for anesthesia reactions. Often battlefield hospitals didn't have the necessary equipment and medications to deal with malignant hyperthermia. We don't have true MH, but our reactions are very similar.

That's a good starting dose. Many people have been on it for years with no problems. Mexitil is by far the most effective medication for the most people.

It's interesting about his father having trouble running. So there is definitely a good chance that he has Thomsen's. If his twins inherited it, they probably won't have symptoms for a few more years, but it would be good for him to know about the condition. Even though it's mostly just a nuisance, it can become life-threatening if we are given the wrong anesthetics, so everyone in the family who has a mutation, even if they don't have symptoms, should wear Medic Alert jewelry.

Jan

Type of Myotonia: Thomsen's

Country: US

Re: finally a name to it

Well my son has started his medicine and says that he believes he feels a difference. I think I already see his movements to be more fluent and less restricted. Does this medicine work better the longer youre on it? And are doses routinely changed? He returns tomorrow for an EKG

The lab our doctor selected for the DNA test is not one used by our medical insurance. Hopefully this will be taken care of between the doctor and insurance. Our insurance did ask if the DNA testing was needed to help decide his treatment.

I think I saw a post about a lab in Germany that would do the testing for free? Can you re post the name and address?

My son reached out to his dad. He said his father seemed to be interested in the disease but claimed he had no symptoms. Dunno Maybe once we get the results for the DNA we will know more.

Type of Myotonia: Thomsen

Country: USA

Re: finally a name to it

The two labs in the US that do testing are Fullerton Genetics in Asheville, NC and Athena Diagnostics in Worcester, MA. And yes, the testing can make a difference in the treatment. He may have a sodium ion channel myotonia rather than myotonia congenita which may respond better to other medications or to dietary changes. Both labs do a myotonia profile which covers both types (CLCN1 and SCN4A). It's also important to know the pattern of inheritance for family planning (recessive or dominant).

The Periodic Paralysis Association offers the testing through a research lab in Germany. It is free, but has to be ordered by your doctor. You can register on their website, and then go to the "Genetic Testing" section for the forms:

Periodic Paralysis Association

Mexitil can work very quickly. You build up a bit of a tolerance, and then the dose is adjusted, but it usually is not prescribed above 300 mg 3x a day for myotonia. Some younger patients only take it before a sports event, but not on a regular basis. Be sure that he takes it with food or with an antacid. It's important to get the product insert and be familiar with potential side effects. Usually when people don't tolerate it, it's because of the GI symptoms.

I hope you get the insurance approval since it only takes a few weeks to get results when it's done in the US. It can take several months to get the results from Germany, but it will be thorough.

Jan

Type of Myotonia: Thomsen's

Country: US

Re: finally a name to it

Spoke with insurance again regarding the labs for genetic testing. Apparently Athena Diagnostics in Worcester, MA is on their list but prior approval is needed.

Did follow up EKG after 5 pills of Mexiletine. My son says he "feels better". Yay, Long time coming!

Type of Myotonia: Thomsen

Country: USA

Re: finally a name to it

That's great! It's a life-changing medication for a lot of people.

I hope you get the approval. Tell them it's very important to document the exact type because of the potential of death from anesthesia reactions. My doctors did not take it seriously until I had the DNA confirmation.

Jan

Type of Myotonia: Thomsen's

Country: IS

Re: finally a name to it

Life changing for sure. My son can feel a difference when getting up after sitting or laying, but hopes it will eventually do more. I told him to be patient. He just started this medicine and I am sure his doctor wants to see how his body accepts it before any change in dosage. It is good feeling that we are finally on the right track.

Next doctor visit May 2nd.

Thanks so much for the interaction.

Type of Myotonia: Thomsen

Country: USA

Re: finally a name to it

Finally getting somewhere with the genetic testing. Looks like Fullerton Genetics in Asheville, N.C. is a participating provider with our insurance. Thanks for mentioning the available labs in the US. I was looking at $5800 with Athena Diagnostics. The insurance would have paid 80% of an allowance ( they claimed not to know allowance amount until billed by lab), leaving me to pay anything over their allowance, plus the remaining 20% and a $ 500 deductible.

I was first informed by my insurance that the only genetic lab listed as a participating provider was Myriad Genetics, Salt Lake City Utah and they do not do myotonia profiles. It wasnt until I mentioned Fullerton, that they found it to be a participating provider.

The call taker at Fullerton was great. She double checked to make sure they would be able to bill a NY resident and supplied me with the CPT codes to give to my son's doctor for prior approval.

Type of Myotonia: Thomsen

Country: USA

Re: finally a name to it

I edited my initial reply because I missed your paragraph about the EMG and Mexitil. It's best to start with a small dose and work up to the full dose on the Mexitil. Be sure to read the product insert so you'll be able to recognize potential side effects.

Jan

Type of Myotonia: Thomsen's

Country: US