we have just found out about it and are interseted in hearing from familys who have same genetic disorder\nwant to know more about how it is passed down etc
205669
I don't have it, but I do know that when it is a familial disorder, it virtually always passes from mother to children, as it is a mitochondrial disorder, and all cellular organelles come from the mother's egg (the sperm basically supply just the DNA).  It can occur sporadically.  It is a A3243G mutation in the mitochondrial genetic code.  A good resource for the "technical" information.  http://www.emedicine.com/ped/topic1406.htm
89031
Scientists have reported that they've found an "extremely unusual" trait in the cells of some mothers with two or more gay sons, providing more evidence to suggest that homosexuality might be inherited.\n\n\nMothers of multiple gay sons were about six times more likely than other women to process their X chromosomes in a certain way, researchers discovered.\n\n\nResearchers aren't entirely sure what the findings mean, said study co-author Sven Bocklandt, a postdoctoral researcher at UCLA. Making things more complicated, about 75 percent of mothers of multiple gay sons don't have the trait.\n\n\nStill, the study, released Tuesday in the journal Human Genetics, raises plenty of questions, Bocklandt said, especially as researchers try to figure out whether homosexuality has genetic roots and if there truly is a "gay gene" -- or genes.\n\n\n"What everybody wants is the gene, and we don’t have it yet," Bocklandt said. "But this is an independent confirmation that the X chromosome is involved."\n\n\nBocklandt and colleagues looked at a phenomenon known as X-chromosome inactivation, in which cells inside the bodies of females automatically turn off -- or inactivate -- one of their two X chromosomes. That leaves them with one working X chromosome -- just like males, who have a single X and a single Y chromosome.\n\n\nNormally, each cell in a female's body randomly turns off one or the other X chromosome. In some cases, such as when families share a genetic disease, there is "extreme skewing" -- one X chromosome is more likely to be turned off than the other, Bocklandt said.\n\n\nIn the new study, the researchers looked at 97 mothers of one or more gay sons and 103 women with no gay sons to see what their blood cells did with their X chromosomes. The researchers recruited many of the women with the help of PFLAG.\n\n\nThey found that nearly a quarter of the mothers of multiple gay sons inactivated the same X chromosome -- in other words, nonrandomly -- compared to just 4 percent of the women without gay sons. Of those with one gay son, 13 percent inactivated the same X chromosome.\n\n\nDr. Ionel Sandovici, a genetics researcher at the Babraham Institute in Cambridge, England, who is familiar with the research findings, cautioned that the study is small, with just 44 mothers of multiple gay sons being examined. More research in larger groups must be done to confirm the results, Sandovici said.\n\n\nThe research does provide "circumstantial evidence" that the X chromosome contributes to the development of male sexuality, Sandovici said. But "we still understand very little about molecular mechanisms of sexual orientation, and this seems to be rather a complicated biological puzzle."\n\nBut of course its Nature vs. Nurture and its possible that the person could just become gay because of his environment/experiences or just be born that way.
36312
I hadn't heard about this.  If they indeed tried to hide the fact from the public, it's a horrid disservice to those with allergies.  My kids are allergic to everything and it's so hard.  People just don't understand the severity of it all until you live with it.  Too many "well-meaning" people have made my kids sick.  When they were little, I finally made them pins that read, "DO NOT FEED ME without talking to Mom!"  Sometimes even that didn't work! Ughhhh!
358688
I am only a first year med student, but your topic interested me and I spent some time researching it.\n\nIt can also be called PNH (periventricular nodular heterotopia) or just PH. The most common form of the disease results from a mutation in a gene on the FLN-1 gene on the X chromosome.  What is odd is that it is a X-linked dominant mutation (most of what you hear with the X chromosome is recessive).  This means that either:\n\n-The mother of the child had it and passed it on\n-That a spontaneous mutation occured while the DNA of the egg was being copied.  (A baby girl who is born has already copied all the DNA for her future children, so it was nothing a mother could have affected through lifestyle)\n-A third option is that it is caused by something called "somatic mosaicism".  This is a difficult topic to explain.  It means that while the embryo was multipling and copying its DNA, a mutation occured in this gene just randomly.  Therefore every cell that comes afterward from this cell is also affected.  This means that if the mutation occured early, a lot of cells would be affected.  It it occured later in the embryo, less cells would be affected.  A 1999 article I read said that this was the generally accepted view on males with PH.   \nI also read that they generally see this disease in baby girls, because boys with the mutation rarely survive to term birth and are often miscarried.  Females have two X chromosomes and thus the other "normal" X chromosome must have some protective effect.  \nThe gene makes a protein that is important for the migration of neurons during embyrogenesis.  With this malfunctioning protein the neurons did not migrate properly during while in gestation (in the mother's womb).  \nI read a lot about epilepsy (seizures) being associated with PH (actually 80% according to two articles I read).\nI also read that the levels of mental retardation can be vary a lot (which is very much in line with the idea of somatic mosaicism = varying degrees of pathology depending on which types of cells have the mutation and which don't).  There are some reported to have no mental retardation.  \nI was not able to find any support groups for your son's condition which is critical for further information.  I would recommend that your son be seen by a pediatric neurologist if he has not seen on yet (though I would assume he has).\nFinally, I did find a web site that tries to confidentially try to link up families that have similar genetic conditions that there are no support groups for.  This issue is about Angelman's syndrome but if you go to the bottom of the "Links Line" there is a family with an 11 year old son with the condition that would like to talk to others.  There is a contact person at the bottom.\n\nhttp://www.geneticsupportcouncil.org.au/uploads/pdfs/Gene%20Advocate%20Edition%2026%20June%202004_364.pdf\n\nHope this all helps.  I am still an eager first year medical student and I have sympathy for your family since I have three daughters of my own.
449705
Its a really scary thing to tell them, I was diagnosed at 16 and was so scared my parents would be disappointed (I was so wrong, they were and are great) The way I did it was brought home some information from the hospital about bi polar and left it for them when I stayed at a friends place, when I got home we had to have a big talk, but they had time before I came home to read about it, and I had time to work out what to say, its kinda cheating though.
97322
That's a tough one, all medical records are completely confidential, so finding a person will be difficult,and most people with it probably won't want to talk about it. You might see if there's a national organization associated with the disease and contact them. They would probably have a spokesperson and ,maybe even ,people available to talk to you about it or, at least, give you information.
468901
Over coming a disease for which there is currently no cure. I am the head of the family and I hate to know the toll this is taking on my family and friends.
289831
you should be discussing this with a dietican and ur family dr.
183580
actually, they think now that both parents have to be carriers ,but my sister has it, and we can only trace it through my dad's side of the family. but still, she is worried about passing it to her kids, to the point of not wanting to bare her own. diabetics can live full lives, but it is a lot of stress, and the complications can be pretty serious. it is understandable that diabetics would not want their children to go through what they did.
221092
My Aunts have this--they are all in their 50's.  None of them were diagnosed with it until they were in their late 40's & early 50's.  They are all 3 coping diferently with it as it has affected them each differently.  They all still lead very active lives and don't let it slow them down.  It's a matter of mind over matter--they each make sure they get plenty of rest before and after things that they know will wear them out, are careful about their diets, and have sought the most agressive treatments they can get.  They are all happy in their lives and haven't let the disease control their lives.  They treat it like everything else they've had to deal with in thier lives--it's just another challenge!
189847
The important thing is to get your daughter the medical help she needs.  It's not impossible, my cousin who is adopted was diagnosed with a mental health problem and lots of questions were asked about his family background etc, of course my aunt was unable to supply the information because she didn't have his medical history.  It wasn't a problem, it meant a few more tests had to be carried out that could have been bypassed if the genetic history was available, but it didn't prevent them from being able to treat him adequately.\nGood luck
73461
Even when genetic, there is no sure proof that you or your siblings will get it as well, there is a certain level of self awareness that bipolar victims don't have, as long as you remain emotionally balanced and maintain high self confidence, I don't see how much of a possibility it would be for you to get it as well.
130945
I know lots of people with Down Syndrome. My sister has Downs, as well as I teach a dance class for kids with Downs. I love it, and so do they. I can totally mimic your comment about your brother that you are proud of him and wouldn't trade him for anything. I feel the exact same way about my sister. Today was actually her 19th birthday. I can't believe it! I still remember the day she was born. She is seriously my best friend. We do everything together. The highlight of my week is when I get to teach my dance class. The kids love to entertain! They are really good too, My sister is actually just tried out for the university talent show competing against the entire student body, and made it. At the show, she got a standing ovation after her dance. It was so neat, it gave me warm fuzzies all over!!!
464727
Tell us more about it
175170
I think analyzing the information in DNA has come along way.  This information can be useful for numerous advances in medicine, one being determining ones predisposition of developing certain diseases.  This analysis can take quite a long time but researches are currently working on ways to speed this up, hopefully to less than 1 day.  You can see this article in New Scientist for a further information.  http://www.newscientist.com/article.ns?id=dn9001&feedId=online-news_rss20
286012
try her fan website and email them and tell them about your sister'd condition and ask if they could possably arrange a meeting or something like that
260129
It can be passed on if you have the same lifestyle, check the link below to find out all you need to know about cancer.