My 18 year old niece wants to be tested for Myotonic Dystrophy, her Mom doesn't. What do you do?


My niece is home for Christmas and brought up the fact that she wants to be tested for Myotonic Dystrophy a form of Muscular Dystrophy that he father died from at the age of 47. It runs in her father's family and both grandparents carry the gene.

Her mother does not want to allow either of her kids to be tested. My sister could not stand knowing she could lose her children at an early age and she is afraid they will go off the "deep end" if they know they have it. She has also been worried that if it is known it will be a "preexisting condition" and they will forever have a problem with obtaining insurance.

My niece wants help with being tested. She feels that she wants to know so if she does have it she will be aware and make better lifelong choices regarding her health, foods, exercise and having children. She knows her Mom is hiding her head in the sand to protect herself but my niece says she definitely wants to know.

How do you handle this? If my niece does find out she has it, then I think she needs ongoing counseling. She is already a bit Obsessive Compulsive so I am afraid that she may go overboard even though she seems very level headed at this point.

I honestly wish there was a way of them being tested without either of them being aware of what is actually going on. How would you handle this??????

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vstefans: Thank you so much for your reply to my question, I greatly appreciate it.

Prior to my sister marrying, her husband and his family members were tested in a study at USC or UCLA to see how many of them carried this gene (why I do not know) and as I already said, some of them decided not to be tested. I thought it was odd that both grandparents had the same genetic problem as well... (what are the chances unless families intermarried somewhere in the past?) I am not saying that is what happened.

We had heard that my sister's children stood a 50/50 chance of being born with this problem, but did you say that women with the genetic problem are more likely to pass it on to their children than the father? I ask because it seems like my niece said something like that the other day. She may be reading up on it herself, which is good as long as that is not what is causing the panic/anxiety she began experiencing.

The illness has not kept any of them in the family from having children, but I think it may where my niece is concerned as she brought that up in our conversation. She helps to care for several of the babies in the family during the summer and on holidays and she loves them dearly but if she thinks she could pass it on, she may chose not to have children.

I have to figure out how to approach my sister and ask her if I could take her daughter to a counselor or perhaps there are meetings here for it that she might be able to hear what others have to say and like you mentioned, find out if there is anything new happening that might help her if she does have it.

My sister was always a quiet person and kept her emotions on the inside. I had no idea that she had become so depressed when my father died. Her husband broke his leg falling down the steps in their home at that same time of my father's death. He was off work and he fell so many times, hitting his head that I was amazed he did not pass away due to those injuries. His doctor actually thought he was an alcoholic and accused him of it, even though they were aware he had MD. Within one year he died, but in the end it was due to complications from pneumonia.

My BIL's mother is still alive, in her 80's, has always been a social butterfly and has recently began showing signs of dementia/memory loss. His father died about 20 years ago of a heart attack. Neither parent had the severe symptoms/ problems that their children have from MD. The father was very tall and thin and he owned his own business, he did sleep a lot. The sons have all become very heavy in the mid section with thin legs and arms. The daughter who has it has had corneal detachments, and she has problems walking and now uses a cane.

My sister told me during the summer that she becomes so overwhelmed that she actually wonders, "When an adult is going to step in and take over her life for her." As a gift to her last Christmas I gave come in and help her out. I thought I could help her get organized, but she actually wants someone to literally, "take over." Since I care for my mother with dementia, that is not possible, but it just isn't logical either. I have asked her to go to counseling and she refuses, saying she would not know what to say. I have tried to tell her not to worry, it will all come out very easily once she starts.

I am sorry as I am rambling.....Thank You again for your information it is greatly appreciated!!!
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Thank you, vstefans, for this very informative, practical, and well-thought-out response. I've certainly learned from it. I hope it is helpful to Aunt HolyCow.
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Well, here's the thing. Myotonic dystrophy, though it is not curable, is a disease that can be helped somewhat by some medications, there are certain things that should be watched for if you have it, mainly heart troubles, sleep-wake cycle disturbances, and tendency towards diabetes, all of which can be treated. And if it is type 1 it tends to get worse with each succeeding generation, as the repeat in the gene that causes this is unstable and expands in number. It is thought that the repeats create a toxic RNA, and current research efforts may find a way to stop or neutralize this. And, it autosomal dominant, so each pregnancy of an affected mom there is a 50 50 chance of passing it on.

If I have this correct, your niece is your sister's daughter. Your father died but NOT of myotonic dystrophy, and it was devastating to your sister, more than it was to you. Her husband, your niece's father, had myotonic dystrophy and died at age 47, also devastating to her. Whether that was due to the severity of his illness (actually not likely because he did father a child, and male fertility is reduced in proportion to the severity of the illness, so that severely involved children are nearly always born to affected mothers rather than affected dads) versus just not getting the kind of care he should have had, would be worth knowing. You noted both of your niece's paternal grandparents had the disease but that would be very unusual; it would have been a milder condition in that generation, and it is more likely only one of them had it. Knowing what they died of/how long they lived could be helpful.

Neither you nor your sister are at risk for carrying this. But your niece and your nephew are. High intelligence, judgement skills, and performance do not rule it out entirely but may make it a little less likely. At age 18, niece has an absolute right to find out for herself, and if she was not interested I would be urging it on her. It is very very common for parents who may have passed a "bad" gene on to their children to feel terribly guilty, but that is not even potentially the case here for your sister, and she is less likely to lose her daughter if the condition is detected and managed well versus not having any advantage of modern standards of care to treat and monitor for problems that can be mitigated or prevented. Of course your sister's emotions need consideration, maybe she feels guilty just for having selected an affected mate! But No One Picks Their Genes. We all carry a few bad recessives and it is just luck of the draw whose will pair up and cause problems; most of us who have anything dominant are not even aware of it, and in myotonic dystrophy it is very typical for affected people not even to know or realize they have it until the third generation or so. Geneticists and genetic counselors are typically extremely sensitive and good at handling this, at least ours sure are! So if she wants to come to my MDA clinic I'd be glad to have her and I think we could help. I was just thinking that a clinical exam could be done and possibly avoid the gene test, but honestly, if she clinically looked like she had it, we'd probably still want to run the test to confirm, and if her exam was normal, we'd still want the test to be sure. There is a myotonic dystrophy type 2 that also needs some attention medically but is not worse with each generation that might have to be considered unless you have the specific gene test results for dad available. Nephew needs a look too, maybe even more than niece, if he is having at least subtle cognitive and/or organizational troubles that could be holding him back in life. And, of course, at age 18, your niece could opt to do the whole thing without even telling your sister anything if that seems best. Some families choose to do it this way because some people have very strong feelings about knowing or not knowing their genes that are impossible to reconcile, regardless of need to know, and though it sounds awful in a way, I do not think it is necessarily always the wrong answer.

Some of the nicest people in the world that I have met have this condition in their families. They have more than their share of medical troubles, typically, but most are out there living well and happy with life. Honestly, your sister's untreated depression is a more devastating condition than myotonic dystrophy when it comes to making the most of the one life we each have to live.
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Both kids can make their own decisions about being tested. They don't even have to tell Mom that they were tested and have the results, but I think they would want to share if the results are that they do not have it.

I like the idea of counseling before being tested, and after if the decision is to go ahead with the test.

The Muscular Dystrophy Association supports research and patient care for Myotonic Dystrophy. They can put patients and families in touch with local chapters and support groups. That might be a good place to start.

Even if she has genetic testing she won't know for certain what her lifespan will be, or when/how severe her symptoms will be. Finding out she doesn't have the gene would be a great thing; finding out she does leaves her in an uncertainty similar to what she has now.

I don't think there is a huge rush needed for testing, unless she thinks she has some symptoms, or unless she is in love and wants to be open and honest with her potential spouse. Otherwise, why not get some counseling, perhaps attend a support group, read up on the disease, and give this important decision careful thought.

As her aunt, you can feel flattered that she is turning to you. I think your role is to make suggestions, but then to support her in whatever she decides to do.

Do keep us posted on this situation. We care!
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Sounds like being between a rock and a hard place. Maybe you could suggest that you'll help her find counselling first. If you're up for it, let her know that you'll be there for her, and explain your fears about your sister and that she matters, too. An 18-yo mind really can't grasp the frailty of life. She's already trying to be perfect (for whom is the real question, isn't it?) .. it's hard to imagine how a diagnosis might impact her: a greater push to be the best or just dump it all, why would it matter? Y'know? If it were me, I'd be researching the heck out of the disease and find some of my own answers to help. Best of luck!
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She can register on her own at
This is the research unit at the University of Utah.
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This disease runs rampant through her father's family and there was a study performed at either USC or UCLA and they were a part of it. There were 9 children but not all the children would agree to testing. Her father and his brother have both died from it in their 40's, three additional brothers show signs and one is most definitely ill with it, as well as at least one sister. It seems to be worse on men than women but it becomes active at an earlier age in each successive generation working it's way down to infants.

You all have valid points that are all true. I was just surprised that she approached me with this two days ago. It felt like she was asking me for help and I spoke with her about it, but I do not want to say sure come on I will take you, against my sisters wishes and then have my niece have a nervous breakdown over the results. She wants to know and is afraid to know if it is positive, but it would take a very large burden off her if she were negative. I just wish there were some way of drawing blood for testing without either of them knowing what it was for and having it tested. The problem would be if one was positive and one negative, you could rejoice with the negative, but what do you now do for the positive? They should know I would think.

You are right, they do need to live as healthy as possible no matter what, but my sister works til 8pm every night just so she can keep her home, so they run out for fast food and although my niece tries to talk her out of it, it is a losing battle. My sister is the youngest in our family and she does not want to be the last to die so I think in a way she is doing this on purpose to cause herself to pass before me, because she is afraid of losing both of her children and being alone. She became VERY depressed when my father died and I did not know what was going on, after about 6 months I found out her son was helping her clean out her bedroom and he told me they carried out something like 20 bags of trash! My sister was in deep despair and I never knew it, she had basically locked herself away, then her husband died and it began again. My sister knows she will lose her mind if she finds out either of her kids have the disease. I have tried to get her to go to counseling in the past but she won't. I now however wonder if part of my nieces panic and anxiety and obsessive compulsive disorder is related to worrying about having this disease. She is a senior in High School and an "A" is not good enough, everything must be an "A+." I have tried to talk to her and tell her that this is not necessary, she is an excellent student and she does not need to beat herself up over things like this. Her brother on the other hand is older and in college and he "could care less!!" He is intelligent but he does not apply himself to anything. He cannot decide what to major in, because he really doesn't want to work, he just wants money! We have talked to him and told him, "Sorry kid this is not how it works, you have to support yourself and your future wife and children!"

Before my doctor retired, I asked him if the kids could be test anonymously and he said yes, we just would need to find a doctor willing to draw the blood and send it to a lab under an assumed name; he told me that actors do this all the time.

I just do not know what to do with this information regarding my niece and her wishes. Counseling to me is an absolute must and I do think your advice of doing this before any testing takes place is great advice! I just wish my sister was willing and able to handle this for her kids. I completely understand why she is not able, I just wish she could. Now I am just sitting here on the fence post, not knowing what to do.
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If she is a college student, have her approach the health center, where she goes to school. I agree that she is an adult.
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I agree with CM about the testing. She is clearly worried and as suggested should wait awhile. She can find out as much as possible about the disease and at this time make sensible lifestyle changes if helpful but not too limiting.
If Obamacare remains law pre-existing conditions will no longer be a problem but other insurance will continue to be difficult to obtain. As far as I can see HIPPA does not guarantee an ounce of privacy.
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Assuming she's asymptomatic, I'd counsel your niece to wait. It's a matter of Need To Know. She does need to know before she gets married or has children; but she doesn't want to know until she has sorted out life insurance and a mortgage, if she will need one. The lifestyle choices… well, it would benefit her to make good ones anyway, wouldn't it?

In her place, I too would find this answer highly unsatisfactory. I too would much rather know where I stood. If that remains her point of view, then I would recommend she gets specialist counselling BEFORE testing, as well as after. I imagine special interest groups would be able to suggest where you might find such a counsellor.

God willing, your niece and her sibling(s) will simply have their minds set at rest; and then the relief for your sister will be immense. I'll make that a special prayer.
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