I was wondering if there is any way to trace where a very rare genetic abnormality came from?

+5 votes
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WikiTree profile: Megan Molaison
in The Tree House by Megan Molaison G2G1 (1.7k points)
retagged by Ellen Smith

2 Answers

+3 votes
 
Best answer
If no other family member in the past had the condition a spontaneous mutation also needs to be considered. In that scenario nobody else in your family would have it as it just started with you. Dominant inheritance would be all over your family, recessive or variable penetrance could easily skip several generations and in the case of a rare condition could have easily been misdiagnosed in older generations and thus diminish your chances of tracing it.
by Helmut Jungschaffer G2G6 Pilot (544k points)
selected by Peggy McReynolds
My family line has a  "spontaneous mutation" as mentioned by Helmut.    The disease caused males to die in their teens  (however,  today they have a much longer life expectancy)... so from studying the deaths of males  (the families were large families in the 1800s),  it appears the mutation happened with my maternal great grandmother.  

There has been so much research completed on genetic disorders,  you should contact a geneticist if you have identified the disorder.   I'm sure they would be willing to share established research.  For my family disorder,  circa 1975 they developed a blood test for the  "carriers"  and offered to test us free of charge.

Best of luck,
Thank you for your answer.
+4 votes

Possibly!  There are medical professionals who are interested in such things.  Are you linked up with any geneticists on your medical team?

There is a rare condition in my family, and they tested, but determined that it wasn't genetic, and sure enough it has not reoccurred.  But the guys and gals to talk to are the geneticists.  They are usually pretty interested, and run chromosomal tests looking particularly at the chromosomes involved.  They also take family histories and draw pedigree charts.  

Let me know if that has already been done but still wasn't enough.

Cheers

Shirlea

by Shirlea Smith G2G6 Pilot (181k points)
I haven't tried any of this. I have a genetic abnormality that Drs have told me is extremely rare,but no one in my family has it. I already had questions on the authenticity of my so called family,but now my questions have multiplied. I was hoping that sense the condition is so rare that I could possibly locate my true bloodline from it.
Hi Megan!  It certainly would be interesting to trace the source of your unique genetic condition, but basic DNA as done by any of the testing companies will probably give you a clearer picture of your true bloodline much sooner than the medical genetics would.  Comparison of your DNA with your close relatives would tell you right away whether you are actually related to the people who raised you, and if you are related as closely as you would expect.  

Since the parental generation has approx twice as much DNA from the grandparent generation as you do, it is not weird to ask parents (and grandparent if available) to test.

Once you have a pedigree that you think is valid, then you would be able to identify individuals to ask about the occurance of the genetic abnormality.  

That's my basic advice, but there are two other questions that i would want to know:  

First, do the geneticists tell you that this is a recessive inheritance?  in other words, you had to inherit it from both parents for it to express?

Second, do the geneticists tell you that there are specific ethnic or geographical correlations with your condition?

But regardless of any of that, the auDNA is going to help you a lot.  Try to test as many of the oldest generation available to you, and where the aunts and uncles are no longer available, test your cousins.
Thank you for your answer. I am alone on this. My "family" that I question is not going to back me up on this because the ones that are alive hurt my father and in doing so have hurt me. We were never close. I have always felt a void  some from these people,or sort of resentment or jealousy. When I was pregnant with my second daughter there was a woman who was my father's girlfriend that was working as a nurse in a local OBGYN,and she took my blood plus I found out later on that she filled out my paperwork with false information. What's worse is that recently I found out that she was never a licensed nurse to begin with. I don't know what should may have done with my blood. Now Everytime I take my children to the Dr they are getting swabbed with no medical reason for this process. This family secret has got to be BIG,and beings everything I have been put through involving my father's,so called "accidental" suicide that was in fact a staged suicide that I hold a significant amount of evidence for including medical records and reports,pictures of his neck(unremarkable), coroner breaking state law by not preforming the autopsy,hospital not doing the autopsy although I signed for it,missing police records,with held information,fake edited pictures of the scene(I have proof), and doctored clerk of court records(I have before and after),but I still have no one to provide my father peace nor give me the much needed justice and closure I deserve.....I want more than anything to prove that the people I know are involved are of no relation to me. The sad part is that when my father's incident took place I was not even contacted. The people who were allowed to sign his paperwork at the hospital did it illegally and these people wanted my dad out of the way. The hospital have the murderer the weapon in doing so. These people had my father transferred to another hospital out of town. They placed him under unknown with no personal effects,no family listed,or medical background. When I did find out hours later from my brother  (from out of state) I had to hunt my father down in the middle of a cold  night with an infant and toddler so that he would not die alone. When I found him by giving a nurse his physical appearance his chart read Hendrix unk V and he was a 108yr old man. I was told immediately that I had to make a descision over and over again when I felt that my father understood me and didn't look all that bad. On the 3rd day after being told again that he would never come out of it. I signed for his machine to be taken off. When I got the medical report it stated that my father had agreed to some medical treatment,he was answering to his name, and lifting his limbs on command. It also read that my father had signs of abuse to his scrotal sac and groin area. His toxicity level from 156.47 ethanol alcohol,and his girlfriend's prescription narcotic volium which she was well known for slipping into his drinks before, plus 2 other of her prescribed narcotics were found in his system....there was no way on God's green earth my father could have stood up less much walked out into the yard and continue out the process of hanging himself. The vehicles were parked out of the norm to protect the scene while it was being set up. I even found an envelope and in my father's writing it was addressed to his place of employment and at the bottom it read "ATTN: HUMAN RESOURCES". I know that a certain somebody saw my dad place this envelope in his mailbox. This person retrieved it,and gave it to his girlfriend to speed things up because they had been trying to get father to kill himself and this person was tired of waiting especially sense he and his family were on the verge of losing everything from his failed attempts of making something out of himself. He always wanted what my father had. He also held a grudge on my father through a business decision. This guy ,myfather's girlfriend,as well as other extorted people and organizations made my father's life a living hell. They ruined him in every way a man can be.... physically, emotionally,and mentally. My father was an alcoholic,but he was a good man with a big heart. The problem is he gave it unconditionally to the wrong people, and sadly some of these people he called his family. Im sorry to have rambled on and I'm sure this was more than you wanted to know,but this is my father. I've always heard that money is the root of all evil,but has anyone ever considered that it may be a curse as well?

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