In my case, there is a neuromuscular disease in my family- Charcot-Marie-Tooth disease. It takes many forms; the type in my family involves onset at around 10 years of age and results in a gradual wasting of muscles in the extremities due to demyelination of nerves. There is variable expression, too- my brothers, uncle, mother, and grandfather all have/had the disease. My mom and uncle made it to their 30s before needing braces and one brother made it to his late 20s (even joined the US army!), but my younger brother got braces when he was 11. My grandfather never even bothered getting braces and just used a walker as he got into his later years. Inheritance seems to be dominant.
I do not seem to have the disease; my muscle conduction velocity tests were normal when I was a teenager and so it was assumed that I do not carry the gene. There were no genetic tests available at that time. However, me being me and also being a cytogenetic tech, I know that heterozygosity can account for the variation in expression- and I ask myself- what if I DO have CMT but in a very mild form?
There are newer genetic tests available to pinpoint exactly which disease we have. No one in my family has been genetically tested and no one seems to want it. I resist it even though I know there is a tiny chance that I may be a “carrier”, ie, have the gene but not be affected to a great degree.
WHAT ABOUT MY KIDS? There is this nagging worry (it’s a parent thing!) that my kids will develop CMT. But I don’t want them to be tested (or myself) because I don’t want to influence their development (physically and mentally) by subconsiously making excuses for their falls (kids do fall when they are growing up!) or not encouraging them to play soccer, swim, hike, ride bikes, etc.
I want them to have NORMAL lives as children. If they hit 9, 10, 11, and they begin to have problems, then we’ll deal with it.
Anyone else have any thoughts? Huntingdon’s Disease…Alzheimer’s Disease…there are other diseases out there that don’t get expressed until a certain age. Would you want to know?
In theory, I would want to know but I am not sure if I was confronted with a decision like that I would find out.
I’d want to know. That way I could get “plugged in” to the network of people working on new treatments, etc. I would feel like I could process the information and really get to understand it a lot better if I didn’t have to do it “under the gun” - e.g. after one of my kids had started showing signs of illness.
I’d want to research whether there are any ways to forestall development - experimental approaches, unconventional use of medications, physical therapy or particular exercise routines, dietary recommendations, etc.
And I’m a big “support group junkie” - always have been. I would want to subscribe to newsletters, join organizations, get research updates, etc.
Bottom line, I just don’t think I could stand waiting to find out. It’s “the devil you know” phenomenon. From personal experience, it was 7 years from my first demyelinating episode until I got confirmation that I really do have MS. (I know, we’re not talking genetic testing here, I’m just referring to the “waiting to know” phenomenon.) Having that in the back of my mind all that time was extremely difficult; although even now I can see some good things to not knowing right away, in the balance I wish I’d known.
oh, and one more thought: as I see it, knowing ahead of time and getting the chance to get as well-educated as you can, could help you to reframe it from “bomb ticking” to “something we’ll be living with.” Not sure I’m putting that right - what I’m trying to say is, I think that the unknown always looms scariest and you can make it even worse than it really is. (and yes, sometimes it’s that bad, I know: the other examples you gave, Huntington’s and Alzheimer’s, certainly can’t be reframed to make them any less horrifying) If this still doesn’t make sense for you, just ignore!
If it was me, I’d want to know everything I possibly about that disease. I’m not a parent so I am probably not qualified to respond to your message at all but I think if I was a parent, I would have similiar feelings about wanting my kids to lead normal lives and not having them develop some kind of complex about being sick or needing special attention, etc.
Love,
Stacy
P.S. I’m extremely post- 
today. I’ve had waaayyy too much caffeine. Well, that and I’m always really bored at my job (in publishing). I guess I should do some actual work now.
I totally agree with Mary.
I would want to know as much as I possibly could about the condition and the possibilities of symptom development and chronology. You might already have some of this information. My guess is that there have probably been developments in the field of genetics where they know what degree of expression heterozygous individuals might have-or the possibility that you might be a carrier etc. I suffered in silence for 24 years until I, by fluke, had some bloodwork done and found out I had Celiac Disease. I went through rapid transition with my diet and habits etc. When my son started getting sick… I KNEW that he had it too… even though nobody believed me and even at the beginning the tests didn't support it I still knew that he had it… I just knew (there's that mother's intuition again)… It turned out I was right… as he got older and his exposure increased, his tests were strongly positive. It helped me tremendously to already be dealing with the diet. It helped him to know that I was willing to bend over backwards to make his life more normal… but I didn't have to, because I already knew what to deal with. My other son has never had gluten. We suspect that he probably has Celiac disease also… but if I have anything to say about it, it will be a non-issue.
After my diagnosis I became VERY connected. I lead a support group and I'm a contributing member for numerous groups. It has helped me so much to already know… I'm prepared… I was prepared.
Now, if I had known that I had Celiac disease prior to giving birth, I think things would be different. I may have chosen to not have children (that's extreme, I know), or at the very least, I probably would have had him tested at birth for the genetic indicators (although Celiac indicators aren't as concrete as many other genetic diseases).
Anyway… long story short… I'd want to know… without a doubt.
Andrea
I’ll add a PS here…CMT led me to become a cytogenetic tech! It got me interested in genetics in high school.
Intellectually, I accept the possibility that I or my kids may develop the disease, but I realize the risk is very small according to strict Mendelian genetics. Emotionally, I have the “knee-jerk” reaction…OMG…what if they DO have it?
I’m still happier being an ostrich in this situation. Now, if it were some other, more disabling disease, or something that could kill them, I might want to find out. But with CMT there isn’t that sense of doom…more like a big pothole in the road…
I'm reasonably sure that I'm a BRCA1 carrier, but I have no plans to confirm this through genetic testing for 2 reasons:
1) The ethical issues with genetic testing have not been worked out to my satisfaction ie can an insurance company deny or charge me higher rates for coverage based on this information?
2) I'm pretty aggressive when it comes to my overall health given my family history of cardiovascular disease so I live my life as though I am a carrier getting yearly mamograms (I'm only 36 years old) and practicing CME. I also take supplements and excerise regularly.
The way I figure it, diet and excerise account for more cases of cancer than anything else, so if I take care of myself, I'll should be Okay. However, I am seriously considering having my ovaries removed after I decide to close my womb but prophylactic mastectomy? No way!
Ironically, I'm a breast cancer researcher at NIH so I tend to stay on top of latest developments for professional reasons. As a matter of fact I recently completed a fellowship where I studied BRCA1 breast cancer families. Talk about irony!
Very interesting, spiritdoc2b…do you have kids, and if so, did you breastfeed? If you plan to have another, you might want to give it a try. Extended breastfeeding can really reduce your chances of developing pre-menopausal breast cancer.
| QUOTE (Runtita @ Jul 27 2003, 10:26 PM) |
| Very interesting, spiritdoc2b...do you have kids, and if so, did you breastfeed? If you plan to have another, you might want to give it a try. Extended breastfeeding can really reduce your chances of developing pre-menopausal breast cancer. |
I have one daughter and yes, I did breast feed her until she weened herself. I also plan to breast feed the next 2 I have (wishful thinking on my part).
On another note, I had a breast biopsy 3 years after my daughter was born at the ripe old age of 35
| QUOTE (spiritdoc2b @ Jul 28 2003, 08:08 AM) |
| [I have one daughter and yes, I did breast feed her until she weened herself. I also plan to breast feed the next 2 I have (wishful thinking on my part). |
Good for you! I nursed my son for 2.5 years and am still nurisng my daughter at 18 months. I hope it will help all of us to reduce our cancer risks.
How was the biopsy?
| QUOTE (Runtita @ Jul 28 2003, 02:15 PM) | ||
Good for you! I nursed my son for 2.5 years and am still nurisng my daughter at 18 months. I hope it will help all of us to reduce our cancer risks. How was the biopsy? |
Dx was ADH or atypical ductal hyperplasia. This means that I'm at increased risk (~ 7X,I believe) for developing breast cancer. Had 2 other mamograms at 6 months and those were OK. Next month I go in for my yearly mamogram. Interestingly my doctor wanted me to take tamoxifen which I declined because I plan to remarry and have more children in the near future.