Autumn 2012 Edition - Scottish DSD Network

Autumn 2012 Edition
1
Contact Details
Please do not put KSA on envelopes addressed to
Committee Members unless they have specifically
stated that they do not mind.
Please notify the Membership Secretary of any
change of email or home address, as soon as
possible!
Mrs Alison Bridges
Chairperson & Activity Weekend Organiser
Mrs Roslyn Heinze
Membership Secretary
Engineers Cottage, Homesford, Whatstandwell
Matlock, Derbyshire, DE4 5HJ
30 Alandale Close, Reading
Berkshire, RG2 8JP
Telephone: 01629 534402
Calls charged at Local Rates
Telephone: 0845 230 0047 Option 3
Email: Chair@ksa-uk.net
Or activityweekends@ksa-uk.net
Dr Povl Larsen
Vice-Chair, Newsletter Editor
and Web Administrator
Tregunnus House, Torpoint,
Cornwall, PL11 3BZ
Calls charged at Local Rates
Telephone: 0845 230 0047 Option 4
Email: membership@ksa-uk.net
Or ksa-uk@hotmail.com
Mr Robert Raby
Treasurer
6 Kings Avenue, Brigg,
North Lincolnshire, DN20 8DH
Email: treasurer@ksa-uk.net
National Helpline Options:
Calls charged at Local Rates
Email: WebAdmin@ksa-uk.net
0845 230 0047
Ms Julie Whistler
Administration Secretary
Adult enquiries: Option 1
Children & Family enquiries: Option 2
Membership: Option 3
Donations: Option 4
41 Breach Road, Marlpool, Heanor
Derbyshire, DE75 7NJ
Telephone: 01773 710858
Additional NEC Members
Email: Administration@ksa-uk.net
Mrs Vanessa Charter - Fundraising Officer
Mrs Sue Cook
National Co-ordinator and Helpline Officer
Mr John Gallacher - Adult Support Officer
Email: mwks@ksa-uk.co.uk
56 Little Yeldham Road, Little Yeldham
Halstead CO9 4QT
Mr Guy Williams - Facebook Support Officer
Mr Paul Allnutt - Support Officer
Calls charged at Local Rates
Telephone: 0845 230 0047 Option 2
Mr David Cook - Support Officer
PLEASE NOTE NEW EMAIL ADDRESS
Email: ParentsandFamilies@ksa-uk.net
Non-NEC Support Group Members
Any opinions expressed in the KSA Newsletter are
those of individuals and are not necessarily those
of the Editorial Team or the KSA NEC.
Mr Paul Dutton
Administrator for www.KS/XXYTalk.com
2
Editorial
Dr Povl Larsen
Hi Members
The front page of this Newsletter differs from our
usual format in that the whole of the page is
devoted to our latest medical conferences/shows
poster. The KSA has been attending medical
conferences from before I joined and this has
proven to be an important method for increasing
awareness of Klinefelter's Syndrome, as well as
sourcing potential speakers/presenters at our
Annual Conference. It used to be only the major
British
Society
of
Endocrinology
(BES)
Conference, but now we attend BES Nurses
Conferences, the Royal College of General
Practitioners’ Conference and the Fertility Show.
Alison Bridges explains the thinking behind the
poster later in the Newsletter under the heading
"What Can I Be?" After this is something I have
written to encourage some of you to do the same.
You don't need to include a photograph or even
your real name! Even a few lines would be great!
This Newsletter features some of the
presentations at this year's Conference. Although
the majority of Newsletters are now sent out
electronically (and available as downloads from
the www.ksa-uk.net site) there are still members
who either don't have internet access or prefer to
receive a hard copy. The cost of printing these
restricts the number of pages each Newsletter
can have. So in this issue there is a brief
overview of the presentation on infertility and KS
and presentations by Paul Dutton on Being XXY
and Ginnie Covers on a summary of her book on
Klinefelter's Syndrome.
The greatest change to be aware of at the KSA is
the new dates for the Annual Conference and
AGM. We have moved this event to June. 22nd
of June 2013 to be exact!
If you have any specific subjects you would like to
learn more about or hear the views of specialists
in some subject please contact Alison Bridges so
that she can start the ball rolling. Many
consultants need 3 or 4 months notice of such
events.
The cost of June's Conference is also much,
much cheaper than this year's was. Venues in the
South East are not surprisingly expensive and the
last Conference at £45 per person was our most
expensive to date. Next year's June 22nd
Conference will be only £25 if booked before the
end of April. A massive saving of £20 on this
year’s cost! More information about the
Conference is included later in the Newsletter.
As usual we have an article "View From The
Chair" by Alison Bridges providing an informative
picture of changes to the format of the Newsletter
and other points of interest. Alison goes on to
explain her take on the last KSA Conference and
how the NEC have risen to the challenge posed
by various issues arising from the event. Roz
Heinze our Membership Secretary provides an
update on contact lists and requests possible new
supporters.
There are also articles by members featured in
this Newsletter; Paul Collingridge writes a
heartfelt article on why he and his wife will
definitely be attending next year's Conference;
and Guy Hulbert tells us about his own
experience of being diagnosed with KS and how
the Activity Weekend was a great support to him.
In the Summer newsletter I asked "where in the
World is this?"
Why? I hear you cry. We have found in the past
that our Conference clashes with many medical
conferences and, given the choice most potential
presenters
attend
their
own
speciality
conferences rather than ours! Next year we are
aiming to attract prominent speakers and/or
experts in Klinefelter's Syndrome.
Well the answer is: John O'Groats.
3
View from the Chair
by Alison Bridges
As some members find a large amount of text hard to follow, we are starting some articles with an outline of
the key points. Please let us know what you think of this idea.
•
•
•
•
•
•
•
•
•
There has been a considerable increase in the number of adults joining the KSA
Even better, many are offering help by setting up support groups and fundraising, for example.
Many members have realised that to raise awareness of KS they have to tell people they know
about the condition
It is important to realise that there is a great variety in those affected by their extra chromosome
Some KS men may have some viable sperm up until their early twenties. If they are diagnosed
early it might be possible to extract and freeze sperm
Raising awareness and supporting all affected by the condition. That is what the KSA is about
We hope to run 2 Activity Weekends next year - 5th to 7th April and 13th to 15th September 2013
but this will depend on the early response from you!
Contact me on 01629 534402 or alibridges@hotmail.co.uk
Next year’s Conference will be on 22nd June 2013 at the YMCA in Derby
In 1990 Sue Cook and Steve Hammett formed
the KSA as a support group for all with KS. Steve
and one of Sue’s 3 sons have KS. However Steve
left and around 1994 he set up an adult orientated
group, the Klinefelter Organisation (KO) which is
still in existence. Partly as a result of this the KSA
was considered by some to be parent orientated
- despite having had notable KS adults including
Howard Bell, David Hames, John Gallacher, Ed
Charter, Paul Dutton and Povl Larsen as active
NEC members. Similarly the Activity Weekends
were initially perceived as being targeted at
families. Well at last these perceptions have
changed – at the Activity Weekend this year there
were 24 adults with KS (including 9 aged between
17 and 23) and 9 parent groups. At this years'
Conference there were about 28 sets of parents
and a whopping 23 adults – many of them young
adults!
Even more importantly, many of our adult
members are making an active contribution –
there are now 3 on the NEC, including our editor,
an extremely important position- others contribute
to the Newsletter, help to support other members
and work to set up support groups. Some even
waived their anonymity to help raise awareness
(and funds). Telling family, friends and work
colleagues can be a huge step but they had
realised that they wanted to raise awareness of
KS – and the KSA – and they wanted to tell
everyone that, although an extra chromosome –
or two – can cause problems, those affected are
as diverse as any other group of people. They are
individuals – doctors, warehousemen, engineers,
unemployed, gardeners, butlers, students,
salesmen. The one thing they have in common is
that they know what it is like to have that extra
chromosome – they are the experts and they
want to share their expertise with parents, young
people, medics and one another.
Many of you will be aware that it appears some
KS men have viable sperm in their teens and
early 20s. This drops off naturally but the use of
testosterone speeds up the decline – although
this is reversible. More about fertility issues are
presented later in the Newsletter.
We are considering holding an extra Activity
Weekend next year but it will depend on the early
response we get from you. The two dates are 5th
to 7th April and 13th to 15th September. Please
contact me to book for either – or both – or you
would like more information. My contact details
are inside the front cover of this Newsletter.
4
At the AGM it was agreed that the Conference
date should be changed from September to June
as many endocrinologists and GPs are already
attending medical conferences in September and
are unavailable to attend ours!. Therefore next
year’s Conference will be on 22nd June 2013 at
the YMCA in Derby. I do hope that most of you
will be able to attend.
Fundraising Officer and Guy Williams as member
without portfolio. Although Vanessa lacks
experience in the role she makes up for this with
enthusiasm and Guy is already making a valuable
contribution by monitoring Facebook for us.
Thank you to all my fellow members of the NEC –
it would be very lonely without you!
Finally, I would like to welcome two new members
to the NEC - Vanessa Charter as our new
Conference 2012
Alison Bridges
The Conference this year was a rather
overwhelming success. It was full to capacity –
and there were a great number of delegates who
were attending their first Conference. It was held
at the beautiful Easthampstead Park in Woking.
The grounds were beautiful although few of us
had time to explore. I got off to a bad start – by
the time I found my satnav on Saturday morning
(having put it in a very safe place) I was late and I
never made the time up again! At least I didn’t
(quite) get lost on the way there but many others
did as the journey was down country roads and
not well signed. As we had been unable to get
access the previous evening displays had to be
set up before the AGM. Enough to say that by
9.45, when the AGM was to start, just over half
the delegates had arrived and the sound and
display system hadn’t been checked!
We rushed through the AGM, re-elected the
National Executive Committee (NEC) who runs
the KSA – and also elected two very welcome
new members – Vanessa Charter who is now our
fund raising officer and Guy Williams who is
monitoring Facebook for us. The constitutional
clause limiting the Conference date to September
was removed. In future we intend to hold
Conferences and AGM in June.
Our first speaker was Mr. Minhas discussing
fertility issues. Unfortunately he had to leave
immediately after his presentation so members
were unable to ask as many questions as they
may have liked.
Paul Dutton then gave a presentation on the
issues of Intersex. This was very well received but
did not give rise to as much discussion as I
expected.
After a welcome coffee break the Parents’
Partnership gave an interesting talk about their
work and the help they can offer to parents. We
hope to have a summary of this in the next
Newsletter.
Ginnie Cover, a member of the USA group KS&A
and a retired social worker, then spoke about her
book ‘Living with Klinefelter Syndrome’. Although
the survey on which her book is based wasn’t
scientifically conducted, it was very readable and
interesting! Ginnie sold out of her store of books
and made a very generous donation to the KSA.
To round the morning off, Paul Allnutt, an NEC
member and father of a 3 year old XXY son,
spoke about the practicalities of setting up a local
KS group – as he has in Sussex. I hope this will
have encouraged other members to think about a
group in their own area.
Lunch time at last and a superb meal! We
thought that we had stumbled into the wedding
reception (which was going on at the same time)
but, no, it really was for us! The only ‘down side’
was that we were all too busy eating to talk as
much as we usually do.
After lunch we had two workshops – one run by
the Parents’ Partnership and one for adults with
5
KS. This was to be run by Sybilla Davis who had
attended a previous Conference. The first
workshop went well and many parents
commented on its usefulness. The adults’
workshop didn’t fare so well as some parents of
older boys were understandably keen to have the
opportunity to talk to the KS adults. The result
was that the adults had no time during the
workshop for themselves. However, there was
‘free’ time before the raffle and home and most
people found some time to chat.
This was an excellent Conference and it was very
encouraging to see so many XXY adults
attending. Feedback generally was extremely
good and the constructive criticism highlighted
what we already knew. In response we will be
making some important changes next year:
Problem:
• KSA Conferences have always been very
friendly affairs – everyone is made to feel
welcome. However this year we had so
many ‘new’ members – especially XXY
adults – that some went unrecognised
and, not surprisingly – felt unwanted.
This was also partially true of the Friday
night ‘get-together’.
Solution:
• There will be a group of ‘experienced’
Conference goers to meet and greet
members who have never previously
attended a Conference and who do not
know anyone there. They will be
introduced to other members and made to
feel welcome.
Problem:
• Due to the late start the Committee (NEC)
were not introduced properly. They did
have different coloured name badges but
this was not explained!
Solution:
• An NEC member will be given
responsibility for ensuring that the NEC
and all speakers are properly introduced
– and thanked!
Problem:
• At least one member was disappointed by
a last minute change of programme.
Solution:
• Although delegates are encouraged to
attend all of the AGM and Conference as it
can be disruptive to have late comers if, in
exceptional
circumstances,
someone
needs to know the timing of a specific
presentation they will be able to check
on Friday night.
Problem:
• XXY adults need their own time to talk
amongst themselves (possibly aided by
a facilitator).
Solution:
Next year we will run 3 workshops – one
primarily for parents of younger children,
one for XXY adults only and one run by
XXY adult volunteers for parents of older
children and young adults
I do hope you will be able to join us in Derby on
22nd. June 2013 to see how well we do there!
SUSSEX SUPPORT GROUP
The next Sussex KSA meeting will be held on Saturday, 24th November 2012 at midday in Salfords on the
A23 in between Redhill and Horley. The venue is close to Salfords railway station and the 100 bus between
Crawley and Redhill stops nearby as a request stop. This meeting is open to all members. For further
details or information please contact: chair@ksa-uk.net or on 01629 534402
2012 KSA Conference
On the following pages we provide an overview on the presentation on infertility, followed by the slide show
presentations by Paul Dutton and Ginnie Covers.
6
.
Infertility & KS
Male reproductive system
Male Infertility
The male reproductive system is made up of the
external genitalia. The shaft of the penis consists
of two erectile bodies called the corpus
cavernosum, which comprises a mass of smooth
muscle, and endothelial-lined vessels and spaces
(lacunae), richly supplied with nerve endings. The
urethra, which is the channel for urine and
ejaculate, runs along the underside of the corpora
cavernosa and is surrounded by the corpus
spongiosum. The enlarged, bulbous shaped end
of the corpus spongiosum forms the glans penis.
The foreskin is a loose fold of skin that adults can
retract to expose the glans penis. The frenulum is
the area under the penis where the foreskin is
attached.
Infertility is defined as the failure to conceive
after one year of unprotected intercourse.
Approximately 15% of couples attempting their
first pregnancy meet with failure. In about 50% of
couples seeking treatment, the infertility will be
caused by a problem in the male. It is therefore
important that both partners are seen and
investigated together.
There have been great technological advances in
the development and success of assisted
conception in the last two decades, such that
many couples with infertility can now be offered
treatment.
New Treatments
New techniques have helped improve outcomes
in non-obstructive azoospermia (no sperm in the
ejaculate because of a production problem) which
is the problem for XXYs.
The testes hang outside the abdominal cavity of
the male within the scrotum. They begin their
development in the abdominal cavity but descend
into the scrotal sacs during the last two months of
fetal development. This is required for the
production of sperm because internal body
temperatures are too high to produce viable
sperm. The testes also produce the male sex
hormones.
The epididymis is a mass of tightly coiled tubes
cupped against the testicles. It acts as a storage
place for sperm before they enter the vas
deferens - tubes that carry sperm from the testes
to the urethra.
Over the last decade, it has become evident that
sperm production in abnormal testicles is not
uniform, it can be limited to small pockets in some
situations. Random testicular biopsies may miss a
pocket of sperm production and fail to retrieve
sperm in some men who may actually have a
small amount of sperm production. A
microsurgical approach allows these pockets to
be visually detected and increases the sperm
retrieval rate. This technique is called testicular
microdissection or MicroTESE. Using this
approach, sperm may be found in some men
such as those with KS who have had prior
negative random biopsies
.
Viable sperm are most likely to be present in
younger KS men. It is quite a painful process and
the chances of successful conception are low
even when viable sperm are found.
7
Being XXY
by Paul Dutton
People have 22 pairs of chromosomes plus two sex chromosomes XX or XY, however, there are variations!
So, what did Klinefelter actually observe?
FEMALE
22 pairs of chromosomes plus sex chromosomes XX
"These patients tend to be tall, with normal secondary
sex characteristics; most have normal sexual function. ...
these patients often have an entirely normal appearance
save for their small testes, and I am sure many escape
detection because the testes are often not examined in a
general physical examination. (Several have)
gynaecomastia..."
The hallmarks of the syndrome, therefore, are small
testes, sterility, and increased excretion of folliclestimulating hormone."
MALE
22 pairs of chromosomes plus sex chromosomes XY
So, where does this guy fit in?
22 pairs of chromosomes plus sex chromosomes XXY
We call this Klinefelter's Syndrome?
8
Interview with “Kerry”
It is often assumed that XXY refers only to ‘XY
men’ with an extra X chromosome with no
allowance made for the possibility that there
may be ‘XX women’ who have an extra Y
chromosome.
Have we inadvertently and with the best of intentions
encouraged the Medical Profession to a "One size fits
all" approach?
When XXY people are “treated” by means of breast
surgery and long-term testosterone treatment are we
just supporting the upholding of cultural stereotypes of
what is meant by male and female?
•
I had felt different to my peers for my entire life.
•
I think they could tell at some level.
•
I was always last to be chosen in team games at
school
•
When I was 37 I was told I had an extra chromosome
•
I thought I would be a “whole person” after the
treatment; the doctor said it would “make you a man”
Interview with “Kerry”
•
I had always thought of myself as “gender fluid”
•
Testosterone tipped the scales too far in favour of
masculinity.
•
I felt I had lost “the real me”.
•
Doctors were not equipped to deal with an xxy person
who rejected Testosterone so they referred me to a
psychologist who specialised in treating transgendered
people.
•
They decided that if I wasn’t male, I must be female.
Should we have thought more about Intersex
Individuals?
Interview with “Kerry”
Firstly, though, what is intersex?
Intersex is where a person’s biological sex is not
clearly male or female; a person might have
characteristics of both or neither.
It’s always congenital. Someone can find out or be
discovered to be intersex at birth, puberty, when
trying to conceive a child, or random chance.
It’s not an identity: it’s not in our heads, although
some of us will opt out of the assumed gender
descriptions of "male" and "female".
•
This psychologist couldn’t help and I returned to my
GP.
•
My GP thought I needed psychiatric help but couldn’t
think of a suitable specialist.
•
So I went “cold turkey” with testosterone.
•
With each passing day I reclaimed more of my true
self.
9
Interview with “Kerry”
Interview with “Kerry”
Testosterone improved memory, energy & concentration
Andrology Australia say:
It also had less welcome side effects:
“In our experience, both in research and in clinical
practice, the two terms – KS and XXY – are almost
always used interchangeably. Yet, the study inquiries
that we received highlighted an interesting issue:
•acne on face and upper body,
•libido with constant erections,
•homosexual fantasies,
•body odour,
•loss of scalp hair,
•growth of body hair and
•weight gain of almost forty kilograms.
Interview with “Kerry”
At the Gender Centre I told them:
“I need a hormone to ‘calm me’ and testosterone is not
my choice.
I will not be embarrassed by further breast
development.
I am intersex. My Y chromosome is a silent Y”
Interview with “Kerry”
On Oestrogen Kerry feels more at ease and has better
energy, memory and concentration.
Kerry dresses androgynously and maintains a strong
emotional bond with her wife.
KS defines characteristics that are only unusual if found
in a male. Common symptoms, such as low
testosterone and breast development, are not
unexpected features (or symptoms) if identified in a
female.
Interview with “Kerry”
Oestrogen was prescribed as an antidote to the high
levels of anxiety I experienced through my use of
testosterone, it also acted as a natural antidepressant
and blended better with where I saw myself on the
gender spectrum, which is not to say I saw myself as
female but rather (as mentioned earlier) a combination
of both genders or if you like ‘simply XXY.
You see I'm one of those people who don't believe we
HAVE xxy but rather we ARE xxy and Oestrogen
allows me to be that person far better than any
alternative.
Interview with “Kerry”
I see my gender as XXY, and I prefer to use ‘intersex’
wherever possible.
My passport is stamped ‘X’ for intersex.
My endocrinologist is required to include a gender
type on all things medical, as such he refers to me as
female,
I’m okay with this description especially given how my
concept of masculinity has always differed from my
peers.
10
Interview with “Kerry”
Andrology Australia
“To provide patients with the most appropriate care and
treatment, it is important to understand these potential
differences amongst those diagnosed with an XXY
karyotype.
The role of testosterone replacement therapy in KS has
numerous benefits, both medical and
psychosocial(Simpson et al., 2003).
For some men, especially those who have not fully
virilised in puberty, it can be a life altering treatment.
Interview with “Kerry”
Organisation Intersex International
OII Australia seeks the right for all adults to opt out of the
gender binary and use neutral sex or gender markers on
legal documents.
Intersex is about an experience of the body, not identity.
Intersex is not synonymous with androgyny.
Any person, intersex or otherwise, may feel more
comfortable with a non-binary identity such as intergender.
We reject language, such as “disorders”.
Intersex variations are a natural part of the human
condition.
Organisation Intersex International
Why would we consider working with OII Australia?
However, the reality is that it may not work for
everyone, and especially for those individuals who
may not consider themselves female, but do not wish
to be more ‘male’ either.
Whilst it may be argued that choosing not to have
testosterone treatment could have a number of
negative long-term medical consequences (Bojesen&
Gravholt, 2007; Maggi et al., 2007), this may not be
the most important consideration for those who feel
they are being medicated to change them into a
person whom they do not feel themselves to be.
Interview with “Kerry”
What do you think KSA UK should be doing for xxy
persons that it is not already doing?
Be more inclusive of the diversity and in doing so
make people aware not everyone will benefit from
testosterone usage.
OII Australia board have said its okay for you to use
whatever material you so wish and if need be, are
willing to work with you in helping to promote that
diversity.
Why not a North American body?
In 2006 with the support of the Intersex Society of North
America the medical profession there stopped referring to
"intersex" and similar terms and started using "Disorders
of Sexual Development" (DSD), which many people found
very offensive.
OII Australia rejects the term "Disorders".
OII already seeks to work with LGBTi organisations to
oppose any discrimination and to encourage mutual
What are the new challenges for the
Klinefelter's Syndrome Association?
Many xxy’s report their sexual orientation as
“something other than straight” even as they report
their gender as something other than male or female.
The real questions for KSA going forward are:
•How do we support the diversity of the xxy
population?
•Is it time to use our eXtra logo more and consider that
it may be both an “extra x” and an “extra y”?
- as the KSA professes to offer support to all its members
isn't it time that it made links with LGBTi and accepted the
help offered by OII?
For more detailed information on Intersex Issues visit http://www.ksa-uk.net/ksa-health-issues/intersex
11
Ginnie Covers Presentation
In the 1980s at age 37, Virginia Isaacs Cover became pregnant with her
second son. Amniocentesis revealed a prenatal diagnosis of Klinefelter
Syndrome. Ginnie and her husband had the best genetic counselling
available, but she felt frustrated by the lack of readily available information
in lay language, and made it her goal to develop a comprehensive guide for
families and individuals to provide accurate and understandable
information about KS and related genetic conditions.
Her book is available via Amazon as either hard copy or as a download to
Kindle. Better still use Amazon via the Give As You Live link below:
www.giveasyoulive.com/invite/R9UsYQ42iHlKlO7AYYKd9BDYp1C-2FNQ3D-3D
More information on how to use this under Christmas Shopping!
This wasn’t a research study
• The survey was done to obtain information
from families and individuals affected by X and
Y chromosome variations
• Gathered basic statistical information about
age, experience in school, medical symptoms
• Gathered numerous pieces of information in
open-ended responses
Presentation
WHAT THE SURVEY TELLS US
ABOUT 47,XXY
Data from the background survey for
“Living with Klinefelter Syndrome,
Trisomy X and 47,XYY”
• A summary of statistical information
• Not a scientific sample and therefore no
statistical inferences should be drawn
• Quotations and background gleaned from
open-ended responses
• Created a more interesting and alive book
with direct quotations
• Guided the writing of the book
12
Survey Size
What Prompted Genetic Testing?
Answer Options
47,XXY
46,XY/47,XXY
Mosaic
150
10
33.1%
160
122
2
25.7%
124
39
33
9
52
60
34
60
16
105
2
1
0
3
3
0
4
0
5
8.5%
7.0%
1.9%
11.4%
13.0%
7.0%
13.3%
3.3%
22.8%
41
34
9
55
63
34
64
16
257
Genetic Signature
Answer Options
46,XY/47,XX Response
Y Mosaic
Percent
47,XXY
47,XXY
46,XY/47,XXY Mosaic
Response
Count
477
0
95.4%
477
0
23
4.6%
23
Of 500 respondents for persons with 47,XXY, 163 were self-responding
adults over 18, and 334 were parents, siblings or partners of XXY’s.
Prenatal testing
Small testes, undescended testes, and/or
micropenis
Speech delay
Hypotonia and/or motor skill difficulties
Seizures or other neurological problems
Learning disability
Behavioral or psychological problems
Failure to progress through puberty normally
Infertility
Don't Know
Other (please specify)
Approximately 60% of respondents were from North America, and the
remainder from around the globe, with about half from the United Kingdom
Response
Percent
Response
Count
answered question
skipped question
483
17
Quality of Genetic Counseling?
Age at Diagnosis
180
160
160
140
140
120
120
47,XXY
47,XXY
100
80
100
46,XY/47,XXY
Mosaic
80
46,XY/47,X
XY Mosaic
60
40
60
20
40
13-18
years
19-29
years
30 years
and over
13
No Opinion
Prenatal 0-2 years 3-12 years
Fair
0
Excellent
0
20
Major concerns from
open-ended questions
Special Help in School
Answer Options
• An emphasis on termination in prenatal
counseling
• Counselors and physicians reading from old
texts or from sketchy internet printouts
• Limited understanding of health issues
• Dismissal of concerns/overemphasis on poor
outcomes
The child is not yet in school
No, special help was not required.
No, special help was required and requested, but
not provided by the school
Yes- 504 Accommodations (No special education
classification)
Yes-IEP (Individual Educational Program)
Resource Room
Self-contained Classroom (for special education
students only)
Inclusion classroom (for general education and
special education students with programs provided
for the students with disabilities)
Speech therapy
Occupational therapy
Reading services
Adapted physical education
Don't know
Early Intervention Services
Answer Options
47,XXY
46,XY/47,XX Response
Y Mosaic
Percent
32
111
46,XY/47,XXY
Mosaic
2
4
Response
Percent
7.9%
26.6%
Response
Count
34
115
23
2
5.8%
25
47,XXY
46
2
11.1%
48
126
53
6
6
30.6%
13.7%
132
59
43
1
10.2%
44
42
1
10.0%
43
86
38
76
17
51
5
2
5
1
3
21.1%
9.3%
18.8%
4.2%
12.5%
answered question
skipped question
91
40
81
18
54
432
68
Bullying
Response
Count
No services even though the person had been
diagnosed with ASD or other disability or delay.
48
2
12.2%
50
Speech therapy
152
10
39.4%
162
Occupational therapy
67
6
17.8%
73
Physical therapy
Behavioral therapy, such as Applied Behavioral
Analysis (ABA)
65
6
17.3%
71
22
0
5.4%
22
General curriculum
60
1
14.8%
61
Not Applicable. The person was not diagnosed
until after age 4 and also received no services.
143
7
36.5%
150
Don't know
18
1
4.6%
19
Did the person with SCA ever experience bullying in school or in
group settings?
120
100
47,XXY
80
46,XY/47,
XXY
Mosaic
60
40
20
0
No
answered question
411
skipped question
89
Yes, frequent Yes, occasional
and severe
bullying
bullying
14
Don't know
If an adult, has the person with XXY
ever been granted disability benefits?
Academic Performance
70
Answer Options
60
47,XXY
47,XXY
46,XY/47,
Response Response
XXY
Percent Count
Mosaic
50
46,XY/47,
XXY
Mosaic
40
30
20
Yes
29
1
20.4%
30
No
86
7
63.3%
93
Don't know
24
0
16.3%
24
10
0
answered question
A 89%100%
B 79%88%
C 69%78%
D 60%68%
If an adult, did the person with XXY
graduated from school?
At what age did the person with XXY learn about
his genetic condition?
47,XXY
46,XY/47,XXY
Mosaic
Response
Percent
Response
Count
Yes
124
8
54.8%
132
No
18
0
7.5%
18
Don't know
1
0
0.4%
1
The person with SCA is not yet an adult
85
5
37.3%
90
Answer Options
147
Less than Don't know
60%
answered question
241
skipped question
259
90
80
70
60
50
40
30
20
10
0
15
Was the condition disclosed to
relatives?
47,XXY
46,XY/
47,XXY
Mosaic
Yes
299
21
79.4%
320
No
77
0
19.1%
77
Don't know
6
0
1.5%
6
Answer Options
Medical Conditions Reported by 20%
or more of adult respondents
Response Response
Percent
Count
Answer Options
answered question
403
skipped question
97
Hypotonia (low muscle tone) or poor fine
or gross motor skills
Speech disorder (delay, dyspraxia,
stuttering, etc.)
Auditory processing disorder
Flat feet
Osteoporosis/osteopenia
Dental problems
Gynecomastia
Obesity
High cholesterol or high triglycerides
Undescended testicle, hypospadias or
micropenis
ADHD/ADD
Anxiety or depression
Hypertension
Medical Conditions Reported by 20%
or more of respondents
Answer Options
Hypotonia (low muscle tone) or poor fine
or gross motor skills
Speech disorder (delay, dyspraxia,
stuttering, etc.)
Auditory processing disorder
Flat feet
Frequent constipation
Dental problems
Gynecomastia
Obesity
High cholesterol or high triglycerides
Undescended testicle, hypospadias or
micropenis
ADHD/ADD
Anxiety or depression
Other (please specify)
47,XXY
46,XY/47,XX Response
Y Mosaic
Percent
Response
Count
181
15
50.6%
196
174
11
47.8%
185
111
116
75
167
83
96
80
9
8
3
7
4
3
3
31.0%
32.0%
20.2%
45.0%
22.5%
25.6%
21.4%
120
124
78
174
87
99
83
116
4
31.0%
120
107
181
6
7
29.2%
48.6%
113
188
145
answered question
skipped question
387
113
Response
Percent
Response
Count
39%
58
26%
39
20%
28%
32%
63%
315
46%
41%
30
42
49
94
46
69
61
38%
61
20%
69%
21%
answered question
skipped question
31
103
31
Concerns of Respondents in
Open-Ended Questions
• More training of primary care physicians in
health risks of 47,XXY
• More understanding by physicians of
preventive measures to reduce cardiovascular
and psychiatric complications
• Better understanding of the impact of aging
on XXY’s
• Risk of early disability and the need to stop
working before typical retirement age
16
149
39
Has the person begun testosterone
therapy if he is age 13 or over?
Answer Options
Yes, the person has begun testosterone
therapy
47,XXY
46,XY/47,XX Response
Y Mosaic
Percent
Open-ended questions for adults
Response
Count
199
9
54.5%
208
Yes, the person began testosterone therapy,
although he has now discontinued therapy
Not yet, but he is being followed by a
physician to determine the appropriate
time for therapy
34
2
9.4%
36
20
2
5.8%
22
No, the person is age 13 but not yet started
on testosterone therapy
15
0
3.9%
15
The person is not yet 13
94
6
26.2%
100
answered question
382
I asked four open-ended questions of adults
only:
• How has the diagnosis affected your life, if at
all?
• Do you believe that XXY has had any major
impact on the quality of relationships, both
friendships and intimate relationships, in your
life? How would you say that it has affected
these relationships?
Open ended questions for adults
Method of testosterone delivery
Answer Options
47,XXY
46,XY/47,XX Response
Y Mosaic
Percent
Response
Count
Injection
103
4
45.5%
Gel
91
4
40.4%
95
Patch
10
2
5.1%
12
Implanted pellets
6
1
3.0%
7
Buccal lozenge
0
0
0.0%
0
Began testosterone, but discontinued
13
0
5.5%
13
Don't know
1
0
0.4%
If testosterone was started but has been discontinued, please tell why, if you know.
answered question
107
• Has infertility been a major concern? If this
has provided a significant challenge, how have
you dealt with this?
• Do you believe that XXY has had any effect on
your sexuality or gender identity? If yes, how
do you believe it has impacted you?
1
61
235
17
Impact of diagnosis
• For those diagnosed in teen or adult years, the
diagnosis provided answers to troubling
symptoms, learning difficulties, etc.
• For some, hormone treatment was
tremendously helpful; for some it was not
• There is also sadness, particularly regarding
infertility
• Only a few would wish to have avoided
diagnosis
Has infertility been a major concern?
•
•
•
•
Personal disappointment and grief
Family reactions
Impact on a marriage
Variety of resolutions: adoption, donor sperm,
in vitro technology, decision to remain
childless
• Expressed hope that medical advances can
make fatherhood more possible in future
Impact of KS on relationships
• Communication difficulties can negatively
impact all relationships, including intimate
ones
• A number of men thought that a more
sensitive, less assertive male personality is
attractive to women
• Anxiety and depression, which may be related
to KS, can also hinder relationships
Living with Klinefelter Syndrome, Trisomy
X and 47XYY: A Guide to X and Y
Chromosome Variations
Available through www.genetic.org and www.amazon.com
VIRGINIA ISAACS COVER MSW VCOVER@OPTONLINE.NET
18
Klinefelter's Syndrome Association AGM
The following nominations for the National Executive Committee were supported:
Chair (Alison Bridges)
Vice Chair, Newsletter Editor & WebAdmin (Povl
Larsen)
Treasurer (Robert Raby)
Secretary (Julie Whistler)
Membership Secretary (Roz Heinze)
Fundraising Officer (Vanessa Charter)
National Contacts Co-ordinator (Sue Cook)
Member of NEC (Paul Allnutt)
Member of NEC (John Gallacher)
Member of NEC (David Cook)
Member of NEC (Guy Williams)
KSA Conference 2013 - YMCA Derby
22nd
June 2013
Please get your diaries out and put a large red circle round this date!
•
•
•
•
•
•
Friday night get together at Travel Lodge, Pride Park Derby
Rooms available at Travel Lodge from £32
Childcare available £10
Provision for young adults who prefer to socialise but not attend the Conference £10
Possible activity on Sunday 23rd June!
Cost £25 if booked by 30th April 2013. Later bookings £35.
The Friday Night ‘Get-together’ will be held at the
Pride Park Travel Lodge in Derby which has
rooms available from £32 per room. There will be
childcare available for over 4s. For young adults
who prefer not to listen to speakers, there will be
a room available where they can chat or play
games. They could go to the cinema in the
afternoon if they wish..
Similarly, if you will find it difficult to get to the
Conference please contact me. If there is enough
interest from Scottish members it may be feasible
to hire a mini-bus!
If there is sufficient interest I will also arrange an
informal meeting/meal on Saturday night and an
activity for Sunday 23rd – perhaps bowling or a
walk round Chatsworth or Kedleston Hall and a
pub lunch.
We hope this may encourage
members to travel further to attend the
Conference.
We hope that the very low cost of this Conference
will encourage members to travel further to
attend.
It would be great if we could set up a ‘transport
sharing’ scheme so, if you are coming and have a
spare seat in your car please let me know.
And now for the best bit – the cost of the
Conference will be £25 if booked by 30h April
2013. Later bookings £35.
For booking forms please visit the website or
contact our Secretary Ms. Julie Whistler. All
contact details are inside the front page.
I look forward to seeing you there.
Alison
19
Why I’m Determined To Go To Next Year’s
Annual Conference & AGM.
Paul Collingridge
•
•
•
•
•
•
•
•
•
•
When I arrived at the KSA 2012 Conference I felt I had come home
I have a 23 year old son with KS
We contacted the KSA when he was diagnosed aged 7.
We have attended many Conferences and we felt that we became part of the KSA ‘family’.
Sadly, due to family circumstances, we almost lost touch with this special ‘family’.
This year the Conference was very close to our home – and we didn’t have to collect our son from
University that weekend so we were able to go!
At the Conference we swapped stories with old friends, met folk we’d not seen before and struck
up conversations that had us saying “yes, yes, it is the same for us!”
We made new friends, had conversations.
So why am I going to the Conference next year? Because living alone with KS leaves
questions unanswered and smiles unshared. Someone will pass on a small fact that will be a
revelation to me, and maybe I can do the same for someone else.
But mostly I will go for that big smile on greeting, to meet friends that have something in
common. Like families.... shared chromosomes. I’ll see you there.
This year I went home; I did! Home was a
fabulous Conference centre in a beautiful location
in Berkshire, though I had never been there
before. As we all know, home is not a building
but somewhere we go to find friends, family,
security and an honesty that cuts to the soul.
These are, genuinely, characteristics that I would
attribute to the fabulous team of people that run
our Association and carefully put together our
Annual Conference. They had become family,
though I may not have realised it, and arriving at
the 2012 Conference felt like the return of the
Prodigal.
Maybe I should give a bit of background. My wife
& I are the parents of a 23 year old son with KS
who was diagnosed at age 7 following the usual
trauma, uncertainty and confusion that is well
documented in KS history; however, back then it
was much less common for children to be
diagnosed at birth and we regarded ourselves as
fortunate in comparison with the many others who
were given a diagnosis as adults. Nevertheless
this was a major and life-changing event in our
family, the bitter-sweet madness of having one
question answered and a thousand new
questions spring to mind. We made early contact
with the KSA, learned of their Annual Conference
and signed up. Maybe it was chance, maybe
more, but at that Conference a new Committee
was put together that comprised some of the
most determined, hard working and caring people
that the KSA could ever have imagined. And we
met some fabulous new friends, Paul Dutton,
Alison Bridges, Sue Cook and Pauline Stoodley.
Over the following years the visionary “chairs” of
the Committee and their loyal team have put
together plans to raise awareness in KS.
Although I was not on the Committee myself I was
inspired and encouraged to join in the work. As
well as being a botanist I’d just finished my
Master’s Degree in Education Research and a
qualification in Special Needs Education so I was
encouraged to use those skills to provide
information, write a few articles, speak to a few
parents, there was plenty of work for anyone who
wanted to join in; so in this way, though on the
outside, we became part of the family. Each year
we eagerly attended the Conference, occasionally
even presenting something, but mostly we
listened, learned and shared stories. Each year
we would meet familiar faces and new faces, we
would support each other and laugh or cry at
20
what had taken place over the previous year.
When Alison started the activity weekends we
went along and there they were, the same faces
and families in an environment where physical
activity, messing about on the river and
communal meals strengthened the bonds.
Then, in late 2007 my father became critically ill,
we were unable to attend the Conference and he
died a few days later. There was a lot to do,
paperwork to sort out, I was now trying to
maintain my own house and my mother’s; a
merger at work had doubled my workload and I
was going under, so I let the communications slip
and lost contact with the Association. But they
never let go of me. Paul and the others continued
to keep in contact through the occasional letter or
Paul’s jottings on Facebook; and they always
challenged me through their writings in the
magazine. By now my children were at university
and Conference exactly coincided with the long
haul from Surrey to Durham with a car full of
student-life, Conference was out of the question.
Then it suddenly all changed one day; Sue asked
me to provide Education Support to a healthcare
team & family in Edinburgh.... I LOVED it! And
this year the Conference was not only just a few
miles from home but, more importantly, it was a
week BEFORE the university trip to Durham; so
we booked our places for Friday and Saturday
and with no commitments we went to the Friday
night “get-together” in Reading.
Almost the first person we met was Alison – she
beamed with delight to see us and immediately I
knew that THIS was what made the KSA so
special, they are family, we are in this together,
we share a common task, it was as if we’d seen
each other only last week. Soon Paul Dutton
arrived and Povl, then more and more old
friends.... we were back! Next day we drove to
the Conference and it was if we’d never missed a
single one.... except it was better and slicker than
ever before. The talks were superb and spot-on
for everyone, the information was faultless and
the atmosphere was joyful, but the real strength
to me was the friendships. We swapped stories
with old friends, met folk we’d not seen before
and struck up conversations that had us saying
“yes, yes, it is the same for us!” And so we made
new friends, had conversations that opened up
new topics to explore, met people who live with
KS a little more comfortably than the day before.
So why am I going to the Conference next year?
Because living with KS alone leaves questions
unanswered and smiles unshared. Someone will
pass on a small fact that will be a revelation to
me, and maybe I can do the same for someone
else. I will get a few hours to spend with some of
the most dedicated people in the world of KS who
are determined to raise the quality of life for us all,
irrespective of what we can bring ourselves. But
mostly I will go for that big smile on greeting, to
meet friends that have something in common like
families shared chromosomes. I’ll see you there.
Please send us your current email address!
Now that postage rates have shot through the
roof it is even more important than ever that we
minimise the number of Newsletters we have to
post. If you have an email address could you
please, please let us have it so that we can email
your Newsletter to you. Of course you can still
print it out if you prefer a hard copy.
Email also makes it much easier for us to contact
you regarding local meetings, Conferences,
activity weekends – or anything else which may
crop up. You don’t want to miss out!
If you have received this Newsletter by post that
means we have no email address for you.
Just send your name via email to Roz (details
inside front page) and she will update her
records.
The less we spend on postage the more
we can spend on raising awareness and
supporting members!
21
Upcoming Activity Weekends!
Due to the huge success of recent Activity Weekends at the Duke’s Barn at Beeley in Derbyshire, we
propose to run TWO this year 5th to 7th April 2013 and 13th to 15th September 2013.
Members under 19 or diagnosed KS/KS/XXY £80
Members over 18 who are not KS/KS/XXY £135
Non-members: £310
Please book early as one weekend is half full
already and I can run the second one only if
there is enough advance interest! There is
more information about Activity Weekends on
the website – see the report on the Activity
Weekend 2011.
Contact me as soon as possible if you want
further information or wish to book a place by
phone on 01629 534402 or
activityweekends@ksa-uk.net
Alison
The Activity Weekends-What an Experience?
By Guy Hulbert
After reading the last Newsletter (Summer 2012),
I felt I must write this article. I was diagnosed with
Klinefelter's Syndrome at 35 years of age through
a fertility test. After diagnosis I went through a
rough 5 years or so. At first I refused to
acknowledge my KS, I buried my head in the
sand. I suffered with anxiety and depression; I left
my wife and got divorced. When I was about 38 to
39 years old I decided it was time to find out more
about my KS. I was in a new relationship but still
coming to terms with not being able to have
children & to be honest not dealing with it very
well. I went to see a counselor and I told her how
I felt. She had never heard of KS, neither had my
G.P. It made me feel more upset and angry. I felt I
had no support. However I kept on seeing the
counselor as she helped me with my anxiety and
depression and how to organize my life in a better
way. Through talking to her I typed Klinefelter's
Syndrome into Google and found the KSA
website. I contacted the KSA and Sue Cook sent
me information on Klinefelter's Syndrome and told
me about the activity weekends.
Well that was over 3 years ago now and I have
been to the last 3 activity weekends and I have
thoroughly enjoyed every one of them. I have
done things that I have never done or had the
courage to do before. I have abseiled, done rock
climbing, caving, stream walking, archery and
many other activities and best of all I have met
other KS men and boys. The activity weekends
are a great place to talk to other men and boys
and parents of KS boys about our condition. I feel
normal at these weekends and at ease with
myself and the people around me. It’s a great
place to talk to other KS men and share our
stories and experiences. It’s good to hear that
many of us have had similar experiences
regarding our physical and mental health. I find
the weekends immensely enjoyable and
beneficial.
Afterwards I feel physically and
emotionally wasted! But they are so beneficial for
my self-esteem. Everyone I meet at these
weekends are truly special people and I feel
honoured to be amongst them. I would like to say
a big thank you to everyone involved at the
weekends especially other KS men and boys,
Sue Cook for informing me about the weekends,
Alison for organizing the weekends, all the
instructors at Dukes Barn and the cooks for
looking after us in the food department. I would
just like to say thank you to everyone for making
my life so much easier and for all the support.
Cheers. PS see you next April or maybe
September at Dukes Barn!
22
What Could I Be?
•
•
•
•
•
•
In the USA half of KS/XXYs diagnosed before birth were aborted
The KSA wants to tell parents-to-be that this is wrong
Our new poster shows how successful those with KS/XXY can be – look at the front cover!
We want you to help by telling us something positive about you
Just a word or a sentence will do – but you can do more if you want!
Contact Povl on WebAdmin@ksa-uk.net or Alison chair@ksa-uk.net or 01629 534402
A 2002 literature review of elective abortion rates
in the United States found that approximately
50% of pregnancies with a diagnosis of
Klinefelter's Syndrome were terminated.
It is likely that the same is true for the UK. This
means that of our 250 members, 125 might have
been aborted. Someone like you, your son, your
husband.
The KSA feels that we need to address this
problem. Much of the old literature about KS/XXY
mentions prison populations and substantial
learning difficulties. Although some KS/XXYs are
more severely affected than others they are very
much the minority and many of them still lead
very rewarding lives.
KS/XXYs often find life difficult but then so do
many other folk. KS/XXYs often struggle at school
but with a bit of help and support – and, yes,
extra effort many become successful in their
fields.
We regularly highlight the negatives associated
with KS/XXY – lack of energy, poor social skills,
difficulty with concentration, etc – but now the
KSA wishes to highlight the achievements of
those with that extra chromosome. At both the
Fertility Show and the Society of Endocrinology
Clinical Update Conference earlier this month
(which we were able to attend thanks to the
support of Bayer) the KSA has displayed its new
poster ‘What could I be?’. The quotes on it are all
from members of the KSA. Not all are positive –
some mentioned depression, being unemployed,
not having a family; those things can happen to
anyone, not just those with KS/XXY. Overall the
poster is intended to show that KS/XXYs can be
as successful as anyone else and that abortion
should never be promoted on the grounds of
KS/XXY alone.
The next step is to create a page on our
Member's Only section of the www.ksa-uk.net
website to give parents and parents-to-be an idea
of what their child might achieve; to dispel the
myth that those with KS/XXY should not be given
the opportunity to have worthwhile and successful
lives.
If you would like to contribute to this ‘What Could I
Be?’ web page please email either the
webmaster, Povl, or myself. It can be a word, a
sentence, a paragraph or a page – it is up to you.
Don’t worry about spelling or grammar, as any
article will be checked for spelling, grammar and
offensive language and any necessary alterations
made. What we need most is your thoughts on
how you see yourself!
Please do contribute – this is your opportunity to
make a real difference – and it doesn’t cost
anything!
You don't need to add a photograph, you can
adopt a false name or request to have your name
removed from publication (but we do need to
know who you are when you send it in).
23
What could I be?
Hi, my name is
i Povl
Larsen and I was
diagnosed in 2004 with
Klinefelter’s Syndrome
at the ripe old age of
51! That was eight
years ago and means I
have lived most of my
life not knowing why I
was different. I say not
knowing why I was
different because I
have always felt that I
never quite fitted in.
I was a shy, introverted
schoolboy who never
said much, seldom
asked any questions in
class, tended to be
bullied,
lacked
confidence when it
came to sports, and
generally had only one or two friends.
ds. Being good
at sports seemed to me to be the way to have lots
of friends, particularly girls! However, I was very
good at art, winning many prizes at school, and
this earned me a certain amount of fame and in
the process, other kids wanted to know me – so I
had found a way around being different.
I was quite clever academically but not brilliant
and left school with qualifications that weren’t
good enough to get me into a University, but were
good enough for Art School. Here I blossomed.
Arty people were
e generally my kind of people,
much gentler, softer, respected the individual, and
there were a lot of girls! I went on to leave home
and study at Art College in Loughborough for 3
years, finally gaining a BA (Hons)
Hons) degree in 33
Dimensional Design specialising
ing in Silversmithing
& Jewellery.
After Art School I won an Anglo Danish
scholarship to tour Denmark visiting silversmiths
and gained further experience working for a
goldsmith. It was a good move as it forced me out
into the world where I had to communicate
communi
and
fend for myself.
On my return to England I used the money I had
saved working for the goldsmith to set-up
set
in
business for myself and over the next 12 years I
progressed from a ‘nobody’ to become one of the
UK’ss leading innovative designer silversmiths.
silvers
Over the years I exhibited in most of the best
galleries in the UK and represented the UK in a
variety of prestigious exhibitions arranged by
Goldsmiths’ Hall in the UK and the US.
However, this wasn’t enough. I felt the need to
give something back so decided to teach disabled
people Silversmithing. I applied and was awarded
a South West Arts Artist-Craftsman
Artist
in Schools
Residency contract at the Royal School for the
Deaf in Exeter for a term. The idea proved so
successful with positive feedback from students
and parents, as well as TV and Newspaper
coverage that the headmaster invited me back for
3 more years! I also started teaching Adult
Education classes in Cornwall and even offered
one to one courses at my own workshop.
Then one day I spotted an advertisement for the
chance to study for an MSc in Computer
Integrated Manufacturing with sponsorship from
the Ford Motor Company. I had been fascinated
by computer technology for some time and how it
could be used in my silversmithing business but
had never
ever had the time to follow up on it. Now I
thought, “I can afford to take a year off; hey I
might even win the sponsorship”. So I applied, I
was accepted on the course, didn’t get the Ford
sponsorship but there was some other funding
and spent the next year
ar studying at Cranfield with
trips to Ford factories in Cologne, Wulfrath,
Bordeaux and Dagenham!! It was an eye opener!
Being my own boss I often worked an 80 to 100
hour week whereas in industry people were only
working 40 hours! In academia it was even more
of a doddle!
On finishing the MSc I enquired about working in
academia and met Prof David Hughes of
Plymouth University who said that to succeed I’d
need a PhD, which would take around 3 years. I
mentioned I’d just finished an MSc at Cranfield
and his attitude changed (Cranfield has a very
high reputation as the best place for management
24
study) – he had an opening for a Research
Assistant to work on a project looking at cost
evaluation of new technology would I like to take
it on? Yes please. The pay was awful but
lecturing pumped it up a bit and of course, I could
carry on part-time with the silversmithing. Three
and a half years later I was Dr Povl Larsen, but
there were no jobs at Plymouth University. I must
have applied for over fifty jobs across the UK,
from Aberdeen to London to Bath and
everywhere in-between. I saw a lot of the UK and
did at one stage think of becoming a professional
interviewee - after all, you always get your
expenses paid!
In 1995 I started work at Portsmouth Business
School (PBS) researching accounting and small
and medium-sized enterprises. In order to be
considered a success as a Research Fellow I had
to publish 4 research papers in International
academic journals. I actually produced 6 such
papers
with
another
twelve
in
other
publications/conferences and won the first ever
(for PBS) Chartered Institute of Management
Accountants research award. However, the mood
at PBS had changed and research was not the
main focus. If I were to stay on I’d have to move
towards lecturing. Standing up in front of a class
of 40 to 60 plus students filled me with dread.
Other members of staff would tell me how they
too had dreaded that first lecture but with time
they got used to it. Well not me. Every time I had
to give a lecture I would go wobbly at the knees,
I’d feel faint, I’d break out in a cold sweat, I
guessed I was just different. However, I did go
and discuss my concerns with my GP pointing out
I felt ‘different’ although I couldn’t exactly explain
why. All he suggested was that I lost weight and
took more exercise. I decided to leave PBS but
not until I found another job. This proved a wise
decision as it took 18 months to find the ideal job.
In 2001 I moved to Cardiff and started work at the
National Centre for Design and Development
Research (PDR) located at Cardiff Metropolitan
University as a Senior Research Officer with
absolutely no teaching at all! Heaven. I knew
when I attended the first interview that this was
where I wanted to work. Robert Brown and Alan
Lewis the two directors of the centre were
passionate about the importance of design, they
believed in the value of research, they also
offered me a very generous salary! Over the
years both Alan and Robert continued with their
determination to encourage the best out of their
staff. It was the best place to work.
After I’d been at PDR for about 4 years I noticed I
was feeling rather tired, irrespective of how much
sleep I had. I found it hard to concentrate. My
mind wandered. Work was suffering. This was
when I was diagnosed with Klinefelter’s
Syndrome – my levels of testosterone were low
but after about a year of TRT I was back on form.
I continued to publish research papers in
International journals, attend conferences and
present papers and won many funding awards, as
well as gaining experience supervising PhD
students. The future looked rosy. However, my
mothers’ health took a turn for the worse and,
although Alan was very understanding and made
enormous allowances for me to care for her, I
eventually decided it was better to resign.
That was two years ago. Mum is still with us and
I’m still looking after her. I do still dabble in
silversmithing but my fingers are not so nimble
and years in academia have made me soft!
Silversmithing is hard work. Nevertheless, I’m too
young to hang up my boots so have now
embarked on a ‘training at home’ course in
bookkeeping. By the time I finish I shall be a fully
qualified ICB (Institute of Chartered Bookkeepers)
accredited bookkeeper authorised to practise
bookkeeping for sole traders, limited companies,
partnerships and charities!, I've already passed
Level 1 with a Distinction and am three-quarters
of the way through level 2 and I hope to be
finished next summer. Then I plan to be able to
offer bookkeeping services from my home and
still look after mum.
I do not blame KS for how my life has been, nor
do I blame my parents, or GP or anyone else. I
was dealt a set of cards and I’ve made the best of
the hand I have. However, maybe I’ve been lucky.
I have a loving family who didn’t judge me and
supported me in doing what I wanted to do. I’ve
lived a long time knowing I was different but not
why. I guess I just got used to it! And I am proud
to be different.
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How are you
doing?
Would you like to be on our contact list? If so, please contact Roz for a form – contact details below
KSA Contact Lists
The time has come to update the lists that are
currently in circulation whereby members can
contact one another for support or friendship. We
would really like to see these lists expanded,
though we know many folk are in regular contact
through instant messaging and/or email, keeping
friendships made at Conference and Activity
Weekends alive.
We operate two lists for
circulation within the membership that are valued
by new members:
One for XXY (or similar karyotypes) aged
18yrs or over, to have contact with one
another
The other for parents of XXY family members,
enabling them to have contact with other
families
Details included on each list are designed to
enable members to match similar experiences by
virtue of the age of the XXY member or make
contact with someone living relatively close by
more possible, though this is not always the case.
Included on the list is: First name, phone number
and email address (either or both, depending on
entrant’s preference), the year of birth of the XXY
member and the town the contact lives in or near.
Members within the same category of
membership are then free to contact any listed
person by phone (at a time of day stated) or via
email.
Currently the following people appear on the
Contact Lists.
XXYs over 18Yrs:
England: Tony (Stockton); David (Watford); Paul
(Ormskirk); Jimmy (East Sheen)
Scotland: Ken (Hamilton)
Parents:
England: Roz (Reading); Caroline (Slough);
Daniela (St Ives): Alison (Matlock): Rachel
(Clacton-on-Sea); Geoff & Teresa (Gloucester);
John
&
Wendy
(Bury/Manchester);
Gil
(Nottingham); Vanessa (Nottingham); Sarah
(Louth); Sheila (Enfield); Tracy ( Nottingham); Liz
(Croydon); Julie (Farnham); Christine (Guildford);
Paul & Diane (Woking); Paul & Angela (Crawley)
Ireland: Meta (Tullamore)
Wales: Pam (Llandudno)
Swiss/French Border: Sarah (Geneva)
Spain: Richard & Ana (San Sebastian)
I also currently have completed forms for 3 over
18s – James (Ilkeston), Fergus (Winchester) and
Mike (Howden) and 2 family members for
inclusion in the next list – Jane (Worcester) and
Lizzie (Leeds)
Contact details:
Post: Roz Heinze, 30 Alandale Close, Reading,
RG2 8JP.
Email: membership@ksa-uk.net
Telephone: 0845 230 0047
If you think you could speak with others about
your experiences and would like to be
included on one of the ‘Contact Lists’ please
contact me, Roz Heinze, for a form to
complete and return.
Likewise, if you no longer wish your name to
appear, please let me know.
NOTE: Names will be removed if a membership
lapses. Any additions or removals will be
indicated in future Newsletters.
Please notify all changes by 1 January 2013 – Thanks
26
Christmas Shopping
Everyclick - a charity search engine. Surf the internet and help the KSA
Most people use search engines to find things on
the internet, but did you know that every click of
your mouse generates income? If you use
Everyclick as your search engine, then that
income can be donated to KSA. Simply visit:
http://www.everyclick.com/klinefelterssyndromeas
sociation and start searching!
Or visit the www.ksa-uk.net website and click on
(On the right hand side of the
page)
I use my computer every day, I send and receive
emails, I write articles and I research all sorts of
things but I don’t ‘Google it’, I ‘Everyclick it’
because that way I can raise money for the KSA
– without it costing me anything! I just use
‘Everyclick’ as my default search engine
because ‘Everyclick’ gives 50% of all the money
it raises to charities and when I set it up I chose
the KSA as the charity which I wished to benefit.
Now as I surf the net I raise money without it
costing me anything!
Everyclick also have a shopping facility called
‘Give as You Live’. If you download it and shop
with one of over 2,200 stores such Amazon,
John Lewis and Expedia you can trigger a
donation to the Klinefelter’s Syndrome
Association – and it will not cost you anything!
To use 'Give as You Live' go to:
www.giveasyoulive.com/invite/R9UsYQ42iHlKlO7
AYYKd9BDYp1C-2FNQ-3D-3D
Then select the 'Install Now' link and follow the
online instructions. When asked for the charity
name please use our full name - Klinefelter’s
Syndrome Association. You will then be asked
to 'Activate' your account. Once this is achieved
you can bookmark the page for ease of further
use. Good luck.
If you use the link above, Give as You Live will
add a one-off bonus when you spend more than
£10!
Every time you search or shop with Everyclick,
KSA will benefit. Get started and click away every penny adds up!
Buy presents for your friends and family – and
help the KSA at the same time!
Thank you all! Alison
PLEASE, PLEASE
Notify us of any change of address, email address
or phone number. There are dozens of members
whom we have been unable to contact and who
do not receive a Newsletter because their details
have changed!
If you feel this might apply to you please contact
our Membership Secretary, Roz to check!
Her email is:
membership@ksa-uk.net
27
The 2013 KSA AGM & Conference Venue
22nd June in Derby
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