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Sa Skimrande

47 XXY confirmed ! - (at last)

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Some time ago I came upon some of Baron-Cohens writings where he theorised a link between ASD and various chromosomal disorders and knowing what it is I am is not entirely ASD I took it upon myself to do some research and research I did, even teaching myself certain aspects of genetics to understand what I was reading and eventually I came to the conclusion that it is possible that I have a chromosomal disorder. This further emphasised by a recurrent chest lump that I eventually sought medical help with where the GP concerned discovered something she did not expect and it was at that time I asked about Klinefelter's syndrome and she agreed so put the wheels in motion to get tested for such, not a cheap procedure I understand but nevertherless it got underway I was insistant.

 

Well it took three months to get the results, the initial blood sample acquisition did not inspire confidence when it took three samples before I pursued the the specialist myself to get from him word of mouth what was required so I could relay the instruction to the phlebotomists who were too scared to ask as I was fed up making the ten mile journey to the hospital and pay the five pound parking charge just for them to get it wrong again. Well to say I refused the phlebotomists until they listened to what I had to say caused a bit of a stink so a brave phlebotomist did what they should have done in the first place and went to ask the senior microbiologist whom I had already spoken to for confirmation and there learned I was correct so a correct sample was eventually taken, but it took several attempts for my GP surgery to get the results and the day before yesterday my doctors was pleased to tell me my personal research was correct, I did indeed have Klinefelter's syndrome with a 47 XXY make up.

 

So in my case at least the theory I encountered is right, there is either a link between ASD and KS or it is that the ASD is an incorrect diagnosis as I do wonder how much of me in day to day life and my experiences is KS and how much is ASD as there are similarities between the two, except that with KS the generalisation is intelligence levels tend to be average or ten points behind where my Weschler adult intelligence scores score me as quite a bit above average intelligence only hindered by a below average thought processing speed, which might just be me thinking about it to enable the correct answer or it is I am just slow, the tester was inclined to think the former as all the answers I gave were correct and well reasoned.

 

But there it is not only ASD, but I am also XXY which puts paid to my questions so now the goal is to get out of this perpetual low mood and depression and try and find where I fit in to normal life.

 

 

 

But as a question, are there any more XXY males or females here and with that any other derivatives of the standard Male XY and female XX and does anyone else feel there is a link between ASD and these chromosomal differences ?

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Congratulations on your diagnosis. Is there a KS foundation or charity that helps KSers? They might produce a newsletter

where you can ask on there if any KSers are ASDers as well?

 

I'm also severely depressed but hard to work out what is going to magically cure my depression. Meds make it worse,

ignorance surrounding my behaviour and intentions also make it worse, any type of social pressure make it worse. Hard

to work out what is going to magically cure my depression. All the standard NT methods seem to be impossible for me to do.

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But as a question, are there any more XXY males or females here and with that any other derivatives of the standard Male XY and female XX and does anyone else feel there is a link between ASD and these chromosomal differences ?

 

Ditto! Welcome to the club.

 

You know it's such fresh air to read that someone else is too!

 

Message me any time if you have any questions.

Edited by Mike_GX101

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Hope that's given you some answers to your questions.

 

Had a quick look and search around KS. There are alot of similarities between KS and ASD. But if ASD is genetic, then there maybe some common ground between the two.

 

I must admit, my own son has difficulties listed under KS, but he does not have the physical symptoms. Plus, if the only way to diagnose is a blood test, they would never get him to agree to that.

 

But I think his difficulties are more likely ASD and SpLD than KS.

 

Maybe KS is another common co-morbid with ASD?

 

Anyway, you've done well to actually manage to get the diagnosis in the first place! So maybe you need some 'down time', because i'm sure it has been draining.

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But there it is not only ASD, but I am also XXY which puts paid to my questions so now the goal is to get out of this perpetual low mood and depression and try and find where I fit in to normal life.

 

I'm glad you got the answers you were seeking, sometimes it's easier to get out of low moods and depression and stuff, when you know exactly what it is you are dealing with. All that thinking about KS and not having solid answers can't have been overly helpful to your mood, especially since it's taken a fair while for you to get those answers.

 

I haven't got a clue if there's a link between ASDs and chromosomal differences, but it's an interesting suggestion.

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Not just that Darkshine but then there's the emotional fallout of finding out that one might be infertile too which is generally the case with XXY.

 

For a man in his late 20's, early 30's to be told that as he's naturally thinking of starting a family is perhaps like losing a loved one and needs to be treated as a kind of bereavement because in a way you're losing a part of yourself if you dare even find out that is.

 

I decided when I got my diagnosis that I didn't want to know because I would not be able to handle a truth like that at the moment. And that is how I will leave things for now.

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Yeah, I guess so Mike, I wouldn't have a clue how to even think about handling that cuz I haven't been in that position.

 

I guess I just believe that sometimes in life it can be helpful to know what you're dealing with, even if knowledge isn't always a good thing, but I think uncertainly and not knowing can be worse at times - but it all depends on each individual and what's right for them - it's just that for me personally, uncertainty and not knowing drive me nuts.

 

It seemed to me that when Sa Skimrande first mentioned this, that the not knowing outweighed the other feelings about KS, even though those feelings were clearly very strong too, so I hope that he can find himself in a better place. The road to that might not be easy, but I'm glad for him that he has the answers he was seeking, I think that can become a positive thing.

 

Best

 

Darkshine

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I am infertile totally so I found that out in my early twenties when it was I was in the military when the new recruit medicals the prodding, poking, measuring and weighing discovered a difference, I went through two years of basic and trade training then out onto the squadron where it was not long before the medics wanted to see me to follow up on what was following me around in my medical records since joining up.

 

Well more prodding and more poking, nomogram fertility tests, two of them just to confirm until I was told point blank I was infertile and the medics were not prepared to pursue the issue any further as I was not married. I was doing well up to that point, I had been selected for airmen aircrew as an Air Loadmaster which I wanted as it was choppers and the search and rescue that I was interested in, myself also being a mountaineer at the time, but I just changed in the space of a week, my boss noticed it, everyone noticed it as I went into a perpetual self destruct as being told I was infertile, my future had dissolved and I had lost interest in everything.

 

I tried again to find out why when I left the armed forces and did loads of hormone tests, ultrasound and all sorts, but again no reasons were found.

 

But as I said it was whilst genning up on ASD research I came across the theory that AS and chromosomal abnormalities were linked and so I viewed the typical symptoms of the groups concerned and contacted some with it via forums to find out what I did, it was me, I knew it everything was there but it was called AS, now what if the AS is a misdiagnosis or the two are indeed part and parcel of each other in some cases, but I let my research lie confident I had found my answers, it was good enough for me and I felt better about it.

 

But earlier this year I was plagued with a persistant and painful hard chest lump where I feared the worst and so it was instead of worrying myself stupid as I am usually inclined to do so, I grabbed an emergency appointment to see any doctor and it was that doctor a female that examined where she said it says on my records I have asperger syndrome and she can see the results of the hormone tests I did fifteen years before and there the fact that I was infertile, she then asked had I heard of something called Klinefelter's Syndrome, to which I replied yes, I had done a lot of research on he issue reagards my infertility and the possibility it is linked to ASD and yes before you suggest, I would like to be tested for it as I have researched the procedure and know what it entails especially now given this lump whatever it is. So the cogs were put in motion and the lump turned out to be an infection which went down with antibiotics.

 

But another part of my research was the mental health effect on males who know they are infertile and guess what, there is precious little in western medicine as all focus appears to be on women and so I eventually found an Indian medical association report into male infertility, they had done research into this issue with the conclusion that knowledge of infertility does very bad things to a male's mental health where low esteem features, self destructive tendencies, inferiority complex and suicide attempts, all of which are in my history for I know what knowledge of infertility does, it emasculates males. I discussed this with my new GP who is Indian by nationality and he agreed totally with what I said and he agreed knowledge of what caused the infertility might help me get out of the depression, as a reason I need for anything before I can move on, I cannot simply draw a line and that is it, I need reasons, maybe it is ASD, maybe it is just me, but I must search until I have an absolute answer in order to move on.

 

And so twenty two years later I have my answers, but what is sad, is that is twenty two years of my life gone and all that because I had a difference no one seemed very clued up on, least of all those who are meant to have a clue, the medical professionals, which just shows lack of knowledge or lack of care.

 

So life as it presents itself to me, well, I can't follow with societal expectations, so where to go next I wonder, as quite frankly these past twenty two years have been exhausting.

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Ditto! Welcome to the club.

 

You know it's such fresh air to read that someone else is too!

 

Message me any time if you have any questions.

 

Well for one thing, it explains why I persist against all odds to learn Raks Sharqi, as believe it the discrimination against males that want to belly dance in this country is unbelievable for a so called equal society, but what is worse out of it, is it is males that are the best at discrimination and some women, a certain set I have learned to identify and avoid, but mostly males and usually males in positions of authority who I understand are out to protect women from what they think are lone predatory male perverts.

 

But of the 47XXY, I understand myself to be mostly male and that by my physical appearance, but a lot of my interests are well it's been called new age, but I know where it comes from now, the female in me. But I agree with the youthful appearance as regularly I get pitched as younger than my friends who are ten years younger than myself and where they are having weight problems with thinning hair and hair sprouting out from odd places as they approach middle age, I have long thick hair many women envy, a sparse haired body and no issues at all with weight, but I can grow a full beard within a month.

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Have a read through the following report Sa Skimrande as it demonstrates that some 27% of people with Klinefelter's meet criteria for an ASD too:

 

Neural systems for social cognition in Klinefelter syndrome (47,XXY): evidence from fMRI

 

This needs to be recognised and when a male gets diagnosed for Klinefelter's there aught to be a follow-up to see if he has Asperger's Syndrome too thereby ensuring he gets the extra support he needs.

Edited by Mike_GX101

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I went through a lot of stress and difficulty at work almost 6 years ago now where it was suggested that I showed strong symptoms of having Asperger's Syndrome. Now of course I fought against it because I thought it couldn't possibly be because I can adapt quickly to changes such as moving house and dislike going the same way to work everyday - I like a bit of change otherwise I feel trapped like swimming round and round in a goldfish bowl.

 

I do have a stammer though and I was a late starter with my speaking and listening language skills but they weren't necessarily asperger-like symptoms. Besides before 2006 I'd never heard of asperger's and I thought it was my boss trying to get rid of me. As it happens I have since come to realise that I do like routines in other ways such as having a certain preference for predetermined structures and limitations and that manifests itself in ways I had never contemplated as such before.

 

I got my diagnosis for Klinefelter's 2 years ago and I thought then that if I had KS then I couldn't possibly have AS as well. However I have since come to realise that this simply is not the case (as the above link clearly demonstrates) and I have come to realise that I do have some very strong asperger-like traits that come on more strongly when I'm stressed such as at times of unemployment.

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Have a read through the following report Sa Skimrande as it demonstrates that some 27% of people with Klinefelter's meet criteria for an ASD too:

 

Neural systems for social cognition in Klinefelter syndrome (47,XXY): evidence from fMRI

 

This needs to be recognised and when a male gets diagnosed for Klinefelter's there aught to be a follow-up to see if he has Asperger's Syndrome too thereby ensuring he gets the extra support he needs.

 

Well the report is suggesting what you say and an interesting report it is too concerning the amygdala as my requests for test some fifteen years back concerned the hormone secretions by the various glands in the brain and I didn't have the internet at that point either, but I remember the results were low-normal. But the report suggests with some KS people they could also be AS as I found my diagnosis through being diagnosed with AS so in my case at least there is a link or it is I have been misdiagnosed by one educational psychologist and two NHS psychiatrists and what I experience is KS related and not AS, but during the course of my consultation where I was diagnosed as AS I complete the Weschler adult intelligence tests and was told I am highly intelligent which does not correspond with the generalisation that KS people are of average intelligence or ten points under, so either that information is wrong or the intelligence factor I have is indicative of AS.

 

See, this is where we can help others that come after by reporting such things so hopefully the medical and research bods pick up on it and work towards helping people, as I think we are all aware there are too many generalisations that really help no one.

 

But similarly so those diagnosed with AS should be tested for KS before they have the unpleasant experience of being told they cannot meet societies expectations by being either infertile or likely to produce a low sperm count, as I think I have adequately related, the news is devastating and it does one's mental health a serious blow to the point suicide ideation is common.

Edited by Sa Skimrande

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Totally agree with the generalising comment.

 

Remember that there are many different ways of being intelligent besides IQ. There are things like emotional intelligence and another called social intelligence. Now apparently there is a link with the social imagination and there is another link where the executive part of the brain is smaller which means impulse-control is lower.

 

A lot of the information the likes of employers get to read on Klinefelter's is simply out dated and untrue. That is an area I would like to see changed as from my experience most people with Klinefelter's are genuinely nice friendly people with lots to offer.

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Oh and this week I did inform my employment advisor at the job centre of the diagnosis and he replied that doesn't help my situation does it, to which I replied no what with all the useless information anyone can look up on the web, but I am fulfilling my requirement to inform you of any changes that is all as is required by that which I have signed to say I will do.

 

But with the KS I recognise something which I need in work situations, as I have this need to please and so seek approval and if I don't get it, well I get kind of difficult, but this need to please is a positive in a work situation because then I work at my full capability which has been in the past far more than has been expected it is why I kept jobs despite the fact I was a complete pain in the ass, moody and difficult most of the time for reasons I couldn't understand, but other people's moods I picked up on and they became mine regularly.

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Just know that you're not going it alone. That's more important than anything.

 

There is nothing worse than feeling it's you against the world. To know there are others very similar to you with similar experiences and difficulties means the battle is half won. Now together we just need to work out how to win the other half.

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Have a read through the following report Sa Skimrande as it demonstrates that some 27% of people with Klinefelter's meet criteria for an ASD too:

 

Neural systems for social cognition in Klinefelter syndrome (47,XXY): evidence from fMRI

 

This needs to be recognised and when a male gets diagnosed for Klinefelter's there aught to be a follow-up to see if he has Asperger's Syndrome too thereby ensuring he gets the extra support he needs.

 

There are many disabilities that are also associated with ASD and these IME are rarely tested for. H-EDS, dyspraxia, dyslexia, depression, anxiety, ©PTSD, fibro, OCD to name a few all of which I have.

 

AD(H)D is something also known to coincide with ASD but the diagnostic IV criterion as it stands avoids making allowances for this 'doesn't meet the diagnostic criterion for schizophrenia or another pervasive developmental disorder' that needs to change. A better wording would be 'symptoms cannot solely be attributed to schizophrenia or another pervasive developmental disorder'. I really hope the new diagnostic criterion for ASD will make at least that change.

 

Many of my disabilities can be passed onto my future children. H-EDS puts the risk at 50% so I have some idea how folk feel about being told their infertile and trying so hard to find out why. I think research should be expanded to include male infertility.

 

Also I find it hard to believe that disabilities are as rare as diagnosticians claim them to be. About 20 people per week join a forum for HEDS and tat is supposed to be rare. Aspergers used to affect 1 in 10 thousands births back in the late 90s when I was diagnosed. Now estimates are more like 1 in 100.

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Just know that you're not going it alone. That's more important than anything.

 

There is nothing worse than feeling it's you against the world. To know there are others very similar to you with similar experiences and difficulties means the battle is half won. Now together we just need to work out how to win the other half.

 

The thing is as the days have gone by and I have settled into the truth, today I feel like I have stepped out of the human race, it is no longer part of me. Oh sure I still have to live so I will have to engage with the human race, but as ever I will grow older and at some point expire and that will be the end of it, my KS and ASD will stop with me and if these disorders are seen as a blight on mankind I at least will not be responsible for passing what is not wanted into the future.

 

But seeing as I was born with KS and there designed to be infertile what is the point when what motivates life is reproduction, or is it I am here for something that nature wants, I have something to do in my lifetime that is important to nature?

 

But in reply to others, beware the DSM- whatever it is not designed for patients, it is designed for the healthcare industry and they will tune it as the years go by depending on what treatments they have available, and so that would perhaps explain why co morbid conditions variations and possibilities go on unrecognised, it serves no purpose to the industry that cannot thrive off it., cynical yes I am, but it is a fact the DSM criteria is for the healthcare industry not us.

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Whether your KS or not you are still a valued person in society and i really hope you can find peace with yourself.

As forest gump would say 'life is like a box of chocolates never know what you're going to get' :-)

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The thing is as the days have gone by and I have settled into the truth, today I feel like I have stepped out of the human race, it is no longer part of me. Oh sure I still have to live so I will have to engage with the human race, but as ever I will grow older and at some point expire and that will be the end of it, my KS and ASD will stop with me and if these disorders are seen as a blight on mankind I at least will not be responsible for passing what is not wanted into the future.

 

But seeing as I was born with KS and there designed to be infertile what is the point when what motivates life is reproduction, or is it I am here for something that nature wants, I have something to do in my lifetime that is important to nature?

 

I don't have an answer for that one. It would be nice to have one but ultimately we are what our genes define us as. One has to learn to accept this but in accepting one does not have to like it; I don't really like it either.

 

I never was interested in raising a family. In some people it is all they ever wanted in life - they visit the careers office and they pick the invisible card from the cabinet that reads "I want to work as a father" but for me it was never that way. I have never wanted kids and then ironically I find out that because of this cursed genetic thing that I have I can't have them any way. But if you do want kids there are other ways you know Sa Skimrande and adoption is one such way.

 

Besides what you have to do in life doesn't necessarily have to be important to nature. If nature doesn't show you a fair hand how can you possibly show one back in return? We weren't put on this earth solely to procreate no matter what they tell you when you're young - I was told that and it certainly wasn't helpful. I didn't believe it but then it's like that old-walking-under-a-ladder trick when they tell you walking under a ladder will bring bad luck - no matter how much you reason against it you never quite get yourself to try it out just in case the bad luck it brings leads to something tragic. It's mental trickery that cannot be ironed out using reason alone.

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