Hi all
My dad has recently been told that he possibly has KD, we're waiting for the results of the gene blood test to come back at the moment.
I understand that a daughter of a man with KD is always a carrier of the disease. No one has told me what this involves and what the implications are for having children of my own? Are people like me tested as well to determine if we're carriers or not? Is it possible that women can display symptoms of KD? Any information would be most appreciated.

Hi Salsagirl
According to the genetic inheritance information found elsewhere on our website:
"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)." You can be tested for KD, but be aware that if diagnosed, you may experience genetic discrimination, such as difficulty getting life insurance; since there is presently no treatment (although trials are in progress) you have to weigh the certainty of knowledge that testing gives you against the potential consequences of a positive test. It is my understanding that some women may display reduced effects. Spend some time browsing the posts and other info on the web-site; the info is quite useful.

Yes, it is possible, but usually the symptoms are far less severe and appear later in life. My mother had some difficulties with walking, swallowing, leg and arm strength, and tremors in her late 70's and thereafter. You first just put them off as 'old age', but many mimicked KD symptoms, but again much less severe. In communicating with several carriers in the 50's and 60's, a percentage of them have experienced some symptoms ... again, the severity and onset were less severe and later in life.

If you decide you want to be tested, it is the same DNA blood test as given to men.

One final comment, researchers continue to find new clues to the disease. These clues are opening new doors in their research and are encouraging. If the current clinical trial is not successful, there will be others that follow. We all live with the hope that sometime within the next ten years or so a treatment will be available.

Hi Salsagirl,
I am a carrier too. It is just a simple blood test that confirms you as a carrier. It is correct that you have a 100% chance of being a carrier if your dad does have KD. I went to see a genetic counsellor, as I had questions about the implications of having children. I thought that it would be possible to have IVF to ensure that I have children without KD. My genetic counsellor told me that there is no such process and that they could only ensure that I had a girl, but even then there would still be a possibility that she would be a carrier. But after looking though this site I came across a KD sufferer who’s daughter had IVF and now has a KD free son (Go to 'Open Topic' and then scroll down to 'Carrier of KD' and have a read of that). So I don’t exactly know all of my options, I don’t think that my genetic counsellor had ever come across a KD carrier before. When I intend to start a family I will look into it further to find a way to have a KD free child, if I do have a KD free child I will stop this disease from continuing down my family line. If you are confirmed to be a carrier you can ask to be referred to a genetic councillor. I just hope your will be more knowable than mine. All the best !

Hello everybody
I'm sorry it's taken me a little while to reply but thank you all for your kind information. It has been heartening to me and my family to find out that there are lots of others out there coping with the same problem. I am going to seem my doctor on friday to set the testing process in motion.
Lucy-lu: I am especially interested to know more about you as you are also in the UK. I am in my mid 20s, how about you? Is it your father that suffers from Kennedy's? In particular, how long did the genetic blood test take to come back for him? It has been six weeks since we were told that my dad was being tested for KD, a very long and upsetting 6 weeks. Were you only tested after a family member was positively diagnosed? My GP is very pessamistic about whether i would be granted a test on the NHS at this stage.
Also do you have any symptoms that could be related to KD? As a teenager, I walked on my toes on my left side, not being able to put my left foot flat on the floor. Doctors thought i had muscular dystrophy. I subsequently tested negative for this and had surgury to lengthen my leg but i still walk with a limp now. My paternal grandma had terrible mobility and cirulatory problems and we have subsequently found out that my paternal great grandma died of creeping paralysis aka MS. This is why i also feel it's so important for me to be tested before choosing to have children.

Does anyone else in the community have a similar family history to mine?

Hello Salsagirl,

Its nice to meet someone from the UK on here. I’m 23. I am from the West Midlands. What about you? Yeah my dad was diagnosed with KD in Oct 05 after 8 years I symptoms. From the time he was tested for KD it took about 4 weeks for his results (if I remember correctly). He was wrongly diagnosed with Motorneuro Disease at first; then they tested me, which took about 2 months. Are you the only daughter from your dad? I was offered my test straight away on the NHS. I do tend to be woken up with bad leg cramps, but that happens to lots of people. We believe that my dad had KD from his mother (who was a carrier) and she got it from her father, but his KD whet undiagnosed, as he died of cancer before he developed any symptoms. As far as I am aware my dad’s mother did not develop any symptoms. My dad’s brother also has been diagnosed but it only affects his hand at the moment. Where as my dads symptoms are much worse. My dad does not use a wheelchair but does have difficulty walking, getting up off the sofa etc; he has also had problems swallowing too.

Salsagirl,

I'm also a UK-based carrier of Kennedy's. I hope it's a little reassuring to you, but the two women in my family who are carriers (other than me) don't show any symptoms. My Auntie is well, travelling the world and going on sailing trips. My Granny is the other carrier - she's in her mid-70's. She finds that she does have pains in the joints in her legs, and drinks tonic water to help that (something called quinine in it I think is helpful) and finds that beneficial.

As its been said in many posts in the forum, KD is very "personal" and varies sufferer to sufferer. At the risk of being patronising, keep your chin up and remember that its very rare for women to develop symptoms. I hope you're well.

Aoife

hello everybody

my father has kennedys and i am the only female in my family that carries the disease as far as i am aware. i am only 17 but i have already looked into IVF for later on in life as i do not want to watch my son go through the struggles my father has gone through.
i am so glad to know that there are people like you willing to talk to people like me as my family dont often talk about it.

Georgia, I can understand your fears about bringing a child into the world with KD, but ...

Kennedy's Disease research is moving forward more rapidly then ever. You never know when a treatment will be discovered. Some of the research currently taking place is focused on beginning treatments early in life to delay the onset and lessen the severity of KD.

Perhaps I am a little selfish when I say that if my mother would have known that she was a carrier and decided to not have me, I wouldn't be writing in this forum ... and, I wouldn't have two wonderful children and a loving family or many wonderful friends, nor experienced all the other wonderful things that life has to offer.

As I mentioned, I am being a little selfish.

Hi Georgia,
It's a great idea to join the KDA as it is a great source of support. Have you just found out about your dad? I just want to say that, as a woman, I totally understand and share your anxieties about knowingly bringing a child into the world with KD. But at 17 you have a massive amount of time on your side to deal with this in a way that works for you and there's lots of IVF options out there that work so don't let it get you down. It takes a while to get your head around but you will come to terms with it. Do email me if you'd like to chat. There is also a facebook KD group, which i'm a member of.

Thank you all.

salsa girl no i haven't just found out i have known since i can remember. but now i understand it more. its hard to see him go through it.

This message has been edited. Last edited by: georgia,