This forum has been closed for comments. You can still search archived messages.
Visit the Non-Dystrophic Myotonias Facebook Group
Have not been on here in awhile, but like checking every now and then to read anything new going on or just to be able to relate. I just had three kiddos back to back. My first son April 2012, my daughter February 2013, and my youngest son this past March. Needless to say I am filled with joy, but one tired mama.;)
I worked full-time, but decided to be a stay-at-home mom before my son was born this year. I never talk about MC or how it is effecting me, but it was pretty rough with having two babies with a full-time job, being pregnant, and having MC. Not sure about all the other mom's on here that have experienced pregnancy with MC but it definitely increases the symptoms.
I was diagnosed at age 5 in 1990, so they definitely know more now than they did then. It was a pretty awful experience getting diagnosed to be honest. SO many doctors, testing, lots of needles...but again even though there is much more to know about our disease, they know more now than they did then. It was just a different time and I was getting ready to go into Kindergarten and my parents just got divorced. Rough time all around. Anyways...I still did not know in my mid twenties which type of MC I had. I was getting ready to try to start to have a family so I wanted to know more for my children. Well the results came back and Thompsens showed up, but other unique mutations did as well. So my doctor is a little stumped and questions are still up in the air about everything. My parents do not have MC and my sister does not either, so we all found the results very strange. I got pregnant with my son soon after the testing...and then got pregnant two times after that! So now I am going back to see my doctor after having the kiddos and am going to find out more answers. My mother recently got diagnosed with Stiff Persons Syndrome. It is so rare and they do not know that much about it. They did tell my mom that it was not genetic though. I do find it strange that neither of my parents have MC (they have been tested)...but then this SPS shows up with my mom which can show similar symptoms but her disease gets worse with time unfortunately...I guess I will just seek to find answers for myself but mostly for my kids.
I have learned to cope with the physical aspects of MC, but i think the biggest battle is the emotional aspect still. I feel like I am doing well overall, but I do think I could be an absolute powerhouse without my MC. It can be a challenge with balancing the needs and wants of 3 children under 2 1/2 years old, taking care of the house and my husband. I find ways to warm up and my kids love to count so we just do fun counting games until my body is ready to lift them. There are so many things throughout the day that are painful to push through, but that is what you do. Push through. I do feel though it is a silent battle I fight. Partially my choice, but just the mere fact of it being so misunderstood contributes to that too. My husband and I have been together for 10 years and he still doesn't understand. I can still "step up my game" according to him.
I really should probably be coming to this forum more often to just touch base with people who truly understand. And that is all it is...just wanting to be understood, some empathy. Not sympathy. Any mommys & wives have any thoughts or advice?=)
Jessica, glad you checked in! It was hard for me to keep up with three kids, but somehow we made it through :-)
If you want to email me a copy of your test results I can look up the mutations. There have been cases of spontaneous mutations, but it's very rare. Did your parents have DNA testing or an EMG? There are some mutations that can be associated with both dominant and recessive myotonia.
If you haven't checked out the Facebook page (the link is above) you might want to post on there, too. It isn't just for myotonia congenita, but you'll find lots of empathy and you can show your husband the posts so hopefully he'll understand better the daily challenges.
Type of Myotonia: Thomsen's
I don't have kids but I understand the level of energy they take, and I know where you are coming from. I've don't really know what it's like to feel young, and I often imagine all of the things I would have done in my life if I didn't have MC. When I was a kid I wanted to skateboard, and BMX, and ski jumping looks pretty fun too. I definitely would have joined the military....I tried to get to a point that I could but it was a losing battle, and it just would have been nice to have the level of energy and mobility of other people.
I don't really expect other people to really understand the disorder, because most people can't really understand that which they can't see and have never experienced, but I do ask them to just take my word when I say I can't do something.
Type of Myotonia: Becker
If you go to the top and do a search by typing in the word Expectations, you will encounter a thread that I began, and to which Jan and Jenna and others responded. It has helped me a great deal, and I even copied the post, printed it, and gave it to my children. I hope it helps. Don't give up on yourself, no matter what others say. You have many who understand. I believe we "step up our game" every time we do anything at all that is normal for most people.
Type of Myotonia: Paramyotonia