My wifes uncle has recently been diagnosed as having KD while suffering with MS. My mother in law (his sister) is due to have tests in February, so expecting results around March time. The reason she is having the tests is because she has two daughters one having CAH which is a form of Chromozone disorder etc, the other being my wife who has a 4 year old Boy.

Before my wife became pregnant we underwent some gene? tests to see if my wife was carrying the CAH defult gene as this can be treated within the womb if she is. Now we are in limbo waiting for the Mother in law to undergo and receive the results for her test. If she has KD my wife will have to undergo tests also to see if she is carrying the gene, if she is a carrier then my son will have to undergo the tests etc. These tests could go on for the next year or so if not longer.

The question I ask is that if we have been tested before for the CAH gene deficiency would the problem show with my wife to be carrying KD, would they have picked other problems up during the blood test etc?.

I would appreciate and be very thankful for any help or advice.

Thanks in advance

John
UK

Hi John My best guess is that the test for KD is quite specific, and not very likely to be performed unless they were trying to confirm a diagnosis of KD.

Thanks Cam for taking the time to respond.

Cam is correct. The test for KD is specific to that disease. It is a Yes you have it or No you don't. I would image the test for CAH is something totally different and only is for a specific health issue/defect.

Hello!

My uncle (maternal) was recently diagnosed with this disease, which means that my Mom could have it and thus my sister and I could also. I'm planning to test myself in the near future, I am 35 years old and don't have any symptoms that I can tell. I have tried to find out a clear answer to this question without success so I hope you could help me. The question is do all the people that have this gene automatically develop the disease or is it a predisposition and some do and some don't?

Thanks for your help and have a nice day!!!

Hi Enrique
The involvement and progression on this disease is tremendously variable. Some experience minor symptoms in old age, and others experience disabilities in mid-life. The fact that you are free of symptoms at 35 is a hopeful sign. If you are not experiencing symptoms, I would caution you on being tested. Since there is presently no treatment (although research is closing quickly on a treatment), the only benefit is the peace of mind of knowing for sure. This offset by unexpected consequences, such as being denied life insurance, and life insurance coverage on mortages. My less-than-expert understanding of genetics is that if your uncle had KD, he got it from his mother. This implies that your sister is a carrier, and you have a 1 in 2 chance of having the disease.

Sorry, Enrique, I must change my post above. Since your uncle has the disease (meaning he got it from his mother), his sisters are carriers. If your mother is a carrier, both you and your sisters have a 1 in 2 chance of involvement. This is better explained at: http://www.genetics.com.au/factsheet/08.htm Sorry for the incorrect information above.

You can also look on our website (http://www.kennedysdisease.org/about_counseling.html) and it explains the potential passing of the defective gene. I am hoping this image will come through because it helps show how it is passed.

Hello,
Regarding my earlier post, we have received the results back for my Mother in law and have found that she is a carrier. We have been told now that my wife has a 1 in 4 chance of also being a carrier hence the future tests. If she is a carrier we were also told that our 5year old boy had a 50/50 chance of carrying the gene. Would these figures be right as the advice we received was from the counsellor?..

Thanks in advance

John
uk

Hi John, I am a carrier. My genetic Councillor told me that I have a 50/50 chance of passing it to a girl and 50/50 chance of passing it to a boy. But if I passed it to a girl she would be a carrier. If I passed it to a boy, he would have KD.

I have taken this from our web site. It pretty much says the same thing written in the previous posts:

"If the mother is the only carrier of the defective gene: there is a 50 % chance of passing the affected gene on to male children (in which they would develop symptoms in adulthood). The chance of passing the defective gene on to female children is also 50 % (in which they would be carriers of the gene, but usually do not ever develop actual symptoms).

If the father is the only carrier of the defective gene your chances of passing the defective gene to a male child are 0 %. However, it is 100 % certain that you would pass this gene on to your female child, and she will be a carrier of the gene.

Note: Females are usually ONLY carriers with no symptoms. However, it is not unheard of for females to develop symptoms as well. Although, these symptoms are usually not as severe as in males."

The key here is that the "X' Chromosome is defective. An affected male has a defective "X" while an affected female (carrier) has one good "X" and one defective one. That is why the 50% chance.