Story about Klinefelter Syndrome .

My KS Journey

Mar 4, 2017


I was referred to a consultant for endocrine problems in 2015. I had been suffering with severe lethargy, apathy, an inability to lose weight regardless of changes in my diet or exercise routine and had started to express signs of paranoia, stress and anxiety.

At my first appointment with the consultant, she became increasingly concerned with my physical appearance and lack of teeth and recommended that I have an appointment at Guys hospital for genetic testing as she suspected that I had Klinefelters Syndrome.

This was confirmed in December 2015.

KS (as I will refer to) is a condition where extra X chromosomes are present in a male. Boys appear normal at birth but as they enter puberty and continue through puberty the metaphysical changes that are caused by an increase in testosterone do not occur.

Affected males are said to have learning difficulties, behavioural problems such as shyness and immaturity and are at a greater risk of developing certain health problems earlier than “normal” males.

These health problems include, but are not limited to early onset of osteoporosis; heart disease; autoimmune disorders; diabetes; breast and germ cell tumours; prostate cancer and a shortened life span.

Directly linked health issues include dramatic loss of teeth due to softened bones and most males with KS lose / have lost all their natural teeth before the age of 40. KS sufferers have difficulty with social skills and tend to be more anxious, have poor judgment and do not handle stressful situations well.

Large social gatherings and public speaking are a no go, paranoia, nervousness and depression are all symptoms of KS. Everyday occurrences such walking the dog can bring on paranoia & nervousness, as can meeting new people such as work colleagues, potential mates, etc.

A late diagnosis (aged 49) has led medical staff and psychologists in the past bewildered as what is causing regular and severe health problems for which there seems to be no cause.

I was bullied throughout the whole of my middle and upper school years and have during the last 20+ years of work been subjected to bullying in the workplace by my superiors; by senior figures outside of work and have been passed over for promotion on virtually every occasion regardless of my knowledge and experience.

I have suffered severe bouts of depression and I still at times suffer with paranoia and anxiety and stressful situations effectively cause my body to shut down.

Males with KS are infertile and are unable to father children naturally; in fact, it is normally found that sperm is so degraded that IVF is also impossible. 

PRE-KS DIAGNOSIS:

I have had 2 “careers” since leaving school. The first has been I.T. (for over 25 years) – where the best years of my I.T jobs have been those where I was out on the road as a customer facing I.T. engineer.

As my mental health (depression, paranoia, nervousness, anger and inappropriately talking to people (which I didn’t see)) and physical appearance (increased weight gain and dental loss) increased then I retreated away from customer facing jobs, to jobs where I wouldn’t have to face anyone to not working at all.

Over the years I found it difficult to hold down I.T. jobs for lengthy periods of time due to (what I now know) as a lack of social skills and a frustration (that caused both anger and apathy (a major KS trait)) bought about by my inability to climb the “ladder” and attain greater financial reward for my skills and expertise.

In 2006 I relocated to Folkestone (with my long term partner) as she had secured a job as a court manager for Housing 21. I came down here without a job and thought (quite incorrectly) that I would be able to pick up a job in I.T. (based on my skills & experience) quite quickly.

The actual crux of the matter was that I was unable to secure any I.T. work in the Kent area.

This caused a flare up of symptoms – paranoia, depression, anxiety, etc. for which rather than being left alone, I was initially referred to Rainbow House for counselling (which I found no help) – having years previously spent a year being counselled (1995-1996) followed by 2.5 years of seeing a psychologist, relaxation therapy and assertiveness training (1997-2000).

I then found myself having to find a private psychologist (Michaela Busch) who worked out of Folkestone who did help me greatly (re: the past) but during our time together caused other problems where she went beyond the boundaries of her profession (which I’ve had to deal with and still have to deal with on my own).

So I went back to college and studied Sports Science with the intention of going into the Sports Training profession.

The course (classroom based part) was fine as it honed in on my technical side. KS sufferers tend to excel in technical learning (it’s a coping mechanism) but the physical side of the course (team games, exertion through sports) was a nightmare (KS sufferers don’t do well in team games and don’t have the physical abilities to excel in the sports or keep up).

I completed 1 year of the 2-year course – there were 3 top students in the first year and we all dropped out after the first year.

I’ve had long term health problems from birth – asthma and various food allergies, so after an extremely serious bought of sickness bought about by the consumption of a food that I had previously consumed – I went about designing a protein product that I could take in line with the weight training that I was (a) doing as part of my course and (b) the weight training that I continued to do after for health and fitness.

So my second “career” was one in Sports Supplements. This as a job was perfect. Why? Because I could work from home; I wouldn’t have to meet any new people face to face; they wouldn’t see me and when you talk to people on the phone or email them they don’t see the physical image.

I designed a product for me to consume and quickly found that a product of this type did not exist anywhere in the world and started getting calls for it to be sold to the general public; so a company was born from one unique product.

More products followed and I quickly found that with the use of outside resources that only I was required to run the company which meant that I would not have to meet people; nor employ them; nor deal with anyone that I didn’t have to.

However, as word spread, people wanted to meet me – see the face behind the company and that notion filled me with dread – so I took on board a guy that had the image to go with the products.

I trusted him (I informed him of my past) but my trust was misplaced (poor judgement is a KS trait); everything was going well until he decided to use my past against me and committed gross miss-conduct which effectively destroyed me and in turn destroyed the company.

I couldn’t stand up to him; I found it extremely difficult to put into words how I felt about what he had done and it ended as an argument which in turn led to some very expensive solicitors to get rid of him.

For a long time, over a year, (knowing he lived in the town) I didn’t go into town for fear of bumping into him; my partner did but she said he wouldn’t even look at her.

The stress it caused broke me; pushed the apathy that KS causes to the forefront and I lost total interest in everything to a point when severe depression set in. 

POST-KS DIAGNOSIS:

Fast forward to June 2015 and I am feeling drained both physically and emotionally – not my usual self and I get an appointment to see an endocrinology consultant and in her first appointment she stated that she thought I had KS.

I had the genetic test a few months later and the result was positive for KS.

So finally a diagnosis for the last 40 years of “me”. Which in some way helps but in others causes so much distress as the more I read about my condition the more I understand it but then I also have this realisation that at 50 – what do I do now.

The apathy for me is one of the biggest issues – I’ve always been one to push myself to the limit (early morning and late into the night working); as is my physical image – the sports industry does not take kindly to less than fit people – so my excess stomach fat and my lack of teeth – does not bode well in an industry full of people when slimness and healthiness at the forefront.

KS means that however much you train in the gym, you will never build that ideal physique and you will never lose the body fat (especially around the stomach) that non-KS males attain. Muscle building is virtually impossible with KS. Diet although good (and at times excellent) plays no part in KS males ability to lose weight – although it keeps you healthy – the peaks & troughs of your metabolism make you feel almost like you have diabetes and “sugar lows” are common.

Physical image rightly or wrongly is also part of the I.T. industry as well, as customer facing engineers need to be well presented and alert and interested in who they are seeing and what they are doing.

I am none of that. It doesn’t matter how much experience or knowledge I have, meeting new people has always been a challenge; the anxiety and nervousness always creep in; as does the self-doubt about one’s ability to do the job. Apathy plays a big part in this, as does assertiveness, confidence and the ability to project oneself. 

DAY-TO-DAY LIFE:

I have a supportive partner and we have a dog.

I find that by living in sheltered housing accommodation amongst people over the age of 60 comforting and to a large extent, safe.

Relationships with people over the age of 60 is easier and partly non-judgemental.

I find walking the dog within the grounds of the court safer and stress-free whereas walking the dog on the hills (which back onto our court) more stressful especially when there are a number of people on the hills at the same time – in fact everyone that I meet who I don’t know is perceived as a potential threat to my safety.

I tend not to go out as much as possible and keep myself within the confines of the court wherever possible. I don’t enjoy life as much as I used to.

I try to live as stress free as possible because I know that I do not handle stress well. Stress causes other health and health perceived problems even when there is no actual physical problem.

I am under a consultant who specialises in endocrinology and she is superb in what she knows and does; however, there is a finite point and like many people with KS where the consultant doesn’t know everything and I find myself having to do the legwork myself.

Sometimes it seems like you have fight for everything – the treatment; the finances to have the treatment and get to appointments and the finances to live, not just exist.

My bone density scan showed that I have an amount of osteoporosis in my lower left spine and the iliac crest of my left hip. I have been informed that the treatment that I am on will eventually cure this (2+ years).

At the moment however, doing the most mundane tasks such as washing the car causes pain in these areas for which 48 hours’ rest is required to alleviate it. I have also found that there are some arthritic problems (sticky fingers) on occasion which is related to KS. This makes it difficult to pick up small items.

The treatment (testosterone injections every 8 – 12 weeks (depending on absorption)) helps with the condition but does not appear to be an exact science.

KS causes other problems – one of those is extreme tiredness. Even after 8 hours sleep you can still wake up feeling tired; or the morning could go well and by the afternoon you feel like you need to sleep for a few hours. However, some days I feel like I could just keep going.

The treatment for KS (testosterone therapy or TRT) peaks and troughs throughout the 3 months it’s in your system and during that time your metabolism increases and decreases. The increases are dramatic in that one minute you feel fine, loads of energy, etc., and the next you have no energy, legs like lead, head is swimming. The only way to alleviate this is to consume food and/or drinks that bring your energy levels back up.

This is almost like a diabetic sugar low – although I have been tested for this and there is no diabetes.

I know that I am not stupid; I am intelligent and I have found ways over the years to combat my shortcomings but I feel useless when it comes to working and I find the thought of defining myself as “mentally challenged” an issue in itself. 

LONG TERM USE:

KS for me is a day to day thing. The testosterone gel that I was on in the beginning made my condition worse – dropping my T levels further. The change to Sustanon (a 3 weekly T injection) transformed me and after 6 weeks (2 injections) of Sustanon, I was switched to the 8-12 weekly injection of Nebido.

Although longer lasting in the body, positive results take longer to materialise – which includes the start of weight loss (24+ months); reduction in apathy (24+ months); reduction in tiredness blips (6+ months), etc.

 

I am going to be on Nebido for the rest of my life; that’s how it is.

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