So I saw my Genetic Counselor on friday. I have two recessive genes that carry MC one more severe than the other so my children have one of these genes it is just know which one. If they have the one she described has moderate/severe it would be important to know. So we are assuming my husband has two healthy genes to pass down but she was thinking of doing a broad Myotonia test on him then after his results come back if normal just test the kids for the two specific mutations that I have. Is this what you would do? I just want to be safe with them. I am concerned if they need an emergancy surgery and I am not with them if they will be ok?

Jessica,

I could be wrong because there are always exceptions to "rules" but I think your children could only have inherited one defective gene assuming your husband does not have a mutation, and that should not make them susceptible to the anesthesia reactions.

An easy way to set your mind at ease would be to do an EMG on any children and see if the myotonic discharges show up. If they do, then your husband could be tested to look for a recessive gene on his side.

Also it doesn't hurt to have them wear Medic Alert type jewelry that says "Family History of Malignant Hyperthermia Susceptibility." Even though one of my daughters doesn't have MC we take all the same precautions for her surgeries, too, and no one questions it.

Jan

Hi Jessica - As Jan said, if you have 2 recessive genes, then that means that you have Becker's type MC. Your children can only inherit 1 gene from you, and 1 from your husband, so if he is healthy in this respect, they have no chance of having the condition. The only way it can be passed to grandchildren is if they marry a carrier - which is pretty unlikely. But nowadays, Ob/Gyns and perinatologists are pretty good about genetic counseling and testing if it is indicated. The issue of 1 gene being "worse" than the other is basically moot for your kids, since it is recessive.
(by the way - there are some really cute medic alert bracelets for kids now!) Lois

Okay so when talking with her she said "they" (medical communtity) are thinking with some genes that they is this gray area about dominance/recessive and that although it is recessive that is can show dominant charactistics. Have you heard of this?

Also I already ordered my med. alert bracelet and what she "advised" me to put is Anethesia Alert Myotonia Congentia. Not the alert for Malignant Hypothermia.

Thank you so much for taking your time to help guide me through this. I feel a little lost.

Jessica

I had talked with some emergency medical personnel before getting my bracelet and the problem with just putting Myotonia Congenita on there is that they would have to have someone look it up, but apparently they are all familiar with Malignant Hyperthermia.

In an emergency situation where time is crucial I'd rather just have them take the precautions for MH, then explain the MC in the notes. Often the first exposure comes in the ambulance when they give succinocholine to relax the muscles so they can insert a trachea tube.

Jan

I have heard this dominant/recessive issue before. I believe that they started looking more closely because some of us with Becker's exhibit or report symptoms and complaints which would appear to indicate both Becker's and Thomsen's (This seems to be the case with me, although I haven't pursued that yet). When I evaluate the literature I've had available to me, some of the differences in manifestation seem fairly vague and subjective. I guess there's still a lot to learn - most literature and physicians still simply report that leg muscles get stiff, and there's no pain associated with it. It would be nice to hijack a neurology conference somewhere, and storm the stage (can you just see US "storming" anything??!!), and give them a big old lecture!!!
Well, I'm tired and babbling... so, g'nite! lois

We'd all be stacked in a heap just inside the door we just broke down, no we cant do storming nor can we have a row, then with dignity and style,leave the room....Jan,what profession would in your opinion,be one of, if not THE,worst profession for someone with MC?
I dont mean fireman or tightrope walker ect,just a regular ordinary job

I know playing baseball would be a tough one.
Being an Emergency Room nurse is hard, because you have to be able to react VERY quickly to any situation, jump on a person to save their life, run to a patient, etc... I loved ER nursing, but did not pursue it because I realized that something was wrong with me, and I would not be an effective "first responder"... so I went into a nursing specialty that wouldn't require me to have to jump and run too often. The rest of the stuff, I could deal with! But people seem surprised that I could be an RN with MC.
I think the hardest thing for me would be anything involving a stage and an audience!! or a ladder! lois

We should do a "top ten" list of worst careers to pick with MC! My husband does roofing and runs up and down a ladder and walks around on roofs like it's nothing. I can't even climb a step ladder without getting freaked out!

Like Lois mentioned, I think any job where you have to respond suddenly to an emergency would be out...especially since adrenaline levels tend to spike in a crisis.

Also jobs where you are exposed to cold constantly could be a problem, whether it's cold water or air. I was a lifeguard as a teenager but when I hit the cold lake water in the Colorado mountains I had a very tough time moving.

I like being outside, even in winter, and as long as I'm layered with warm clothes I can usually keep working at a task. But getting chilled is disastrous. I would not be worth much on a Search and Rescue team! Even working in offices with the air conditioning really cranking it out I can get pretty stiff. I have had maintenance close off the vents next to my desk :-)

The other thing that I would avoid is a job where you are exposed to pesticides and herbicides. That could be anything from lawn care and golf course maintenance to restaurant/hospitality jobs.

My daughter became very ill when she worked at a McDonald's because they would spray every month in the cooking area and didn't notify us in advance. We've had reactions at track meets, picnics in the park, and even using a storage unit. Just a few days ago I went to get something out of storage and the manager of the facility had sprayed the unit next to ours for ants. I opened the door, grabbed a box and ran but by the time I got home I was very stiff from the exposure.

So I guess I would say that even a "safe" job will have it's unexpected exposures that can trigger myotonia.

Jan

Over the years, I have changed my attidude on life to accomadate my MC. I refuse to have any stress in my life. No arguments, upsets, or worries. I fall asleep in like 2 minutes.

I work in what others would call an extremely stressful job. But I arrive and depart with a huge smile on my face. My job has tons of urgent life and death situations on a daily basis. Otheres are awed by my relaxed and efficient attitude. No adrenalin what so ever. I just do what needs to be done.

Now if only I could find a way to get around the post work fatigue. LOL...