bettybrite
Junior Member
Registered: 08/13/08
Posts: 2
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Reply with quote | #1 |
Hello
I am new here. My 36 year-old brother was diagnosed with myotonic dystrophy a couple of months ago. He's had some symptoms since his early 20s but never put them together. I don't know how many repeats he has, but his condition seems to be fairly mild.
I am 31 years old and have a 6 year-old child. I was just about to try to get pregnant for a second child when we found out about the disease. No one in my family shows any sign of it (we don't know if my mother or father passed it on, but it's probably my mother, because of the region she is from). I have no symptoms either, no myotonia, not a big sleeper, very expressive in the face, and my first pregnancy and delivery were very easy.
I'm getting tested on friday because I really want to have another child. But I'm very scared, I fear that if I carry the gene, I will have to give up on that dream... Not only for medical reasons, but because I am scared it could "activate" the disease for myself.
Does that make sense? Should I be reassured by the fact that at 31 I show no signs of it whatsoever (except, of course, that I imagine all sorts of symptoms now that I know it exists...)? Does anyone else have lots of anxiety due to this? Have any of you "imagined" symptoms (knot in the throat, fear of being slurring when speaking, fear of heart problems) when you found out someone in your family has it?
Oh, I hope that if I have it, I will have the courage to face having or not having, another child...
thank you for reading
Frances |
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godoggo3
Super Member
Registered: 08/31/07
Posts: 43
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Reply with quote | #2 |
It is always a shock to here when the family has myotonic dystrophy. You should have been tested by now based on your post. If you do have myotonic dystrophy there has been a lot of work done on IVF (in vitro fertilization) There was a dutch study done in 2004 that showed promising results. so whether you ahve myotonic dystrophy or not there is a course that may be open to you if you wish more children:
Results from 10 years of preimplantation-genetic diagnostics in The Netherlands[Article in Dutch] THIS IS THE ABSTRACT
Afd. Klinische Genetica, Academisch Ziekenhuis, Postbus 5800, 6202 AZ Maastricht. christine.dedie@gen.unimaas.nl OBJECTIVE: To report the data from couples who were referred for preimplantation-genetic diagnostics (PGD) and treatment due to a significantly increased risk of offspring with a serious genetic disorder. DESIGN: Descriptive, prospective. METHOD: Data were collected from couples that underwent PGD in the period 1993/'03 at Maastricht University Hospital. Embryos produced by means of in-vitro fertilisation (IVF) were subjected to genetic tests several days after fertilisation. Subsequently 1 or 2 unaffected embryos were transferred to the uterus. Where there was an increased risk of a male with an X-linked genetic disorder, the gender was determined using fluorescence in-situ hybridisation (FISH). This method was also used to detect structural chromosomal abnormalities. The polymerase chain reaction (PCR) method was used for mutation detection and/or marker analysis of monogenetic disorders. RESULTS: A total of 691 couples were referred for PGD. The most frequent indications were X-linked disorders (30%), in particular Fragile-X syndrome, Duchenne/Becker muscular dystrophy and haemophilia A/B. This was followed by autosomal dominant disorders (26%), such as Huntington's disease and myotonic dystrophy, and then structural chromosomal abnormalities (24%). A total of 120 women underwent 260 PGD cycles. An embryo transfer was possible in 158 of the cycles and this resulted in 45 successful pregnancies. The pregnancy rate was 17% per cycle initiated and 28% per cycle with embryo transfer. Up until december 2003 29 singletons, 8 sets of twins and 1 set of triplets were born. There were no misdiagnoses and none of the babies had congenital abnormalities. CONCLUSION: PGD was a reliable and successful method, with pregnancy rates similar to those of IVF or intracytoplasmatic sperm injection. PGD should be stated as an alternative during the preconception counselling of couples with an increased genetic risk, especially for disorders where PGD can be routinely applied, such as Huntington's disease, myotonic dystrophy, cystic fibrosis, spinal muscular atrophy, Fragile-X syndrome and structural chromosomal abnormalities.
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This is a disease that will be conquered one day!! |
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bwald
Registered: 08/19/08
Posts: 1
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Reply with quote | #3 |
There are much simpler approache than in vitro fertilization that may work for many people. Once a pregnancy occurs, the fetus can be tested using a common procedure called CVS at about 10 weeks. If the DM gene is present, you will learn very early in the pregnanacy - the tough part is that you will have to make a decision about terminating the pregnancy if the fetus is affected. If this is a decision you are willing to make it is much less complex and costly than in vitro. The test has been available since the early '90s. |
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yungran48
Junior Member
Registered: 08/20/08
Posts: 3
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Reply with quote | #4 |
Hi there. I have four children and only one was born with MD.Sadly he died from complications with it. About two or three years ago I read a story in the paper about a woman who had MD and because she wanted to have children the took out abut half a dozen of her eggs and then implanted two of the healthy eggs back into her and she gave birth to twins who were clear a they had been tested before they were re implanted. This was somewhere in UK but I can't really remeber any other information on it. Hope this gives you some information and hope Take Care Alison (yungran)
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Growing old is mandatory. Growing up? Optional |
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bettybrite
Junior Member
Registered: 08/13/08
Posts: 2
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Reply with quote | #5 |
Thank you all so much for your answers! It's a nice feeling not to be alone in this...
Allison, may I ask another question? Do you feel that having had several children, you are "weakened" or that the disease has worsened with each pregnancy?
Maybe I shouldn't be thinking about this right now since I don't even know if I have it, but still, it breaks my heart to think that I may be so nervous about activating the disease that I won't have the guts to get pregnant again...
Thanks!
Frances
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dmchat
Super Member
Registered: 05/01/07
Posts: 71
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Reply with quote | #6 |
A study carried out in Scotland shows that after each pregnancy the condition seems to accelerate slighty ..... the more you have the worst they become.
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Simon |
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katy
Senior Member
Registered: 11/04/08
Posts: 12
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Reply with quote | #7 |
I'm 50 with DM1 and several failed pregnancies, no kids: I went the whole genetic testing route. Making a decision about terminating a pregnancy if the fetus is affected is something I don't wish on anyone.
I do feel that the pregnancies themselves did accelerate the disease. But who knows, there's no map of the degeneration.
Good luck, I gave up on that dream but I've done some cool stuff instead.
Katy |
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lorilwayne
Member
Registered: 02/05/09
Posts: 6
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Reply with quote | #8 |
I can only give you our families situation with MD and what 3 differant people in the family (2 of them cousins 1 of them me) told us. Heres how our family played out. Whether to have children or not to is a tough decision when dealing with this disease. I have watched several family members deal with it including myself and my husband. I can only sympathize with you.
Grandfather- with myotonic dystrophy
7 kids- 6 boys 1 girl
Oldest boy- with myotonic dystrophy- 1 child had myotonic dystrophy
Only child never had children
Second boy (my father)- with myotonic dystrophy-3 children 1 died with leukemia surviving 2 children 1 with myotonic dystrophy 1 without (youngest)
Oldest child with myotonic dystrophy- never had children
Second child- died with leukemia
Third child- me without myotonic dystrophy had 3 kids
All 3 kids without myotonic dystrophy was told my neurologist once without myotonic dystrophy unless it appeared in my husbands side of the family the risk was gone- Told my neurologist in Norfolk VA
Third child- daughter- with myotonic dystrophy- tried several p/g then adopted 2 girls
Third boy (4th child)- with myotonic dystrophy had 3 kids
Oldest child boy with myotonic dystrophy had 2 children
Oldest child- with myotonic dystrophy
Second child without myotonic dystrophy
Second child- girl withough myotonic dystrophy- no children
Third child- girl- without myotonic dystrophy- 2 kids without
myotonic dystrophy
Fourth boy-(5th child)- without myotonic dystrophy had 3 kids all without myotonic dystrophy who had 5 grandkids all without myotonic dystrophy
Fifth boy (6th child)- without myotonic dystrophy had 2 kids without myotonic dystrophy who had 6 grandkids without myotonic dystrophy. Was told the same thing about it not reappearing by a genetics counselor in Denver CO
Sixth boy- (7th child)- without myotonic dystrophy. Had 3 kids and 6 grandkids without myotonic dystrophy. Daughter was told my neurologist in Aurora CO the same thing about myotonic dystrophy as the 5th boys family was and as I was.
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Lori |
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famille2
Junior Member
Registered: 08/08/09
Posts: 2
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Reply with quote | #9 |
Hello ! I'm a newcomer to this site and don't know if you are still reading it, but I would like to add my 2 cents. First the disease carries a high transmission rate ... at least 50% chance for each pregnancy. I had 3 pregnancies before I even knew of the disease. I had 2 live births and 1 miscarriage, after struggling for a few years with reproduction. At the time my 1st child was born, invitro was only beginning and not an option.
I inherited the disease from my dad who got it from his mom (who died after giving birth to her 4th child). Like my dad and many others with MMD1, the early symptoms didn't really mean anything because I didn't know the disease was heriditary, but once I was officially diagnosed (11 years ago) I realized what they were. Many people have mild symptoms and may not know that they have the disease and so assume that they don't, but if one parent has it it will get transmitted. Considering that many women have on average one to more miscarriage, sometimes so early in the pregnancy that they may not even know that is what is happening, it is possible that your children do not get the disease. Just because you seem symptom-free does not mean you don't have the gene, only a specific DNA test will confirm if you have it and which type it is (1= chromosome 19 or 2=chromosome17). Contact the MDA in your area to see about free testing if you do not have insurance. Even though my daughter has it (my son who is 30 has not been tested) and has had symptoms for some time, I do not regret having her and she herself has has problems having children. Depending on the severity of the symptoms, you may lead a very productive life and you learn to adjust to the things that don't seem to work right like anyone else with a body that has problems. It is important for you to be tested especially since your brother has it, if you share the same biological parents. There are complications with anesthesias that are common with MMD patients and your doctors would need to know and always take proper precautions. I would not sweat it more than that. I'm 56 and live a full life and travel a lot and I am careful with things that I should be careful with. MMD is not a death sentence and someday in the near future we'll be able to block the defect. I don't believe that the pregnancies made my symptoms worse, the disease is a degenerative disease, so no matter what, over time symptoms can increase ... or not, so for myself I do not believe that pregnancies made it worse (taht is my opinion not a scientific fact since it is hard to really measure accurately the levels of symptoms, they just fit into an approximate fork of levels . My younger brother has it much much worse than I do and his has progressed faster (from my experience with my own family members, the women had it as a milder form than the males ... but there are as many intensities as there are patients.
tilly
Good luck to you
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