I grew up in Alabama and my parents were both College professors. Having
parents who are in and around education gave me a solid base for learning ,
but also had expectations that were always going to be met. You can only
imagine how frustrating it would be to have learning issues and
development issues and be labeled lazy. I was often told “You are a quitter,
You are lazy, you are not trying!” This was often by caregivers and teachers.
My parents were always telling me “You aren’t dumb!” That may have been
, but I could not figure out the way to succeed and all of these issues added
to the anger. Anger that eventually led to therapy and suicide attempts and
a whole cataclysmic shift in the way I viewed and trusted family and really the
whole world.
My parents often tell the story about how, I could never
master my math facts, could not process multiplication problems, had
memory problems. One night they took my brother and I to see “Annie” the
musical at the Fox theater in Atlanta, Georgia. After the show, on the 2
hour ride back to Alabama, I gave a repeat performance! A play by play of
the musical. Sang every song word for word. My Older brother supposedly
said “Um, what’s wrong with this picture?” My parents were shocked. “How
did I remember all the words and songs and dialogue??” They realized that
night that music helped me learn that I need Chaos going on all around me
to focus, to help me progress. As I sit here now, the TV is on the dog is
barking . I have background noise and its helping me function better. I find
that story interesting. Even then my parents were so frustrated with my
inability to focus, that they would turn off the radio, stick me in a room with
no windows and expect me to thrive and I couldn’t.
Looking back they were
being informed that I wasn’t trying. They were being told that I was fat
because I was lazy and didn’t want to participate in anything. That I could
not make friends. That I was Angry and depressed.
When they tried to get me help , I took it as them prying and not
understanding what I was going through. By the time we moved to Florida
after living in Alabama and Texas and Louisiana I hated them. I knew there
was something wrong with me. I just didn’t know what.
It seems to be a rite of passage when growing up, the week a kid gets to remove his or her training wheels on a bike. Almost like , your one step closer to being independent or able to drive
I remember dreading it!! I was fine with my training wheels on , take the training wheels off ?? Why would anyone want to do that??
So Imagine my disdain over Learn how
to ride your bike Week!
I didn’t really mind training wheels. I mean , sure
you went a little slower and going down hills were iffy at best…but, I was
fine with that. I lived in the woods of Auburn, in a house My Mom and Dad
built. I had poor motor skills and my eye to hand, was deplorable. So
learning how to ride a bike , was not something I aspired too! I mean let’s
be honest, I wanted to be on Circus of The Stars when I grew up , but
nothing that required anything other than a big smile and a wave while hanging from an elephants trunk ! TA Dah!!
The streets in our neighborhood were paved but lining these street were
deep ditches and extreme drop offs into thicket Bushes and thorns and
Honeysuckle bushes. I was super sensitive and was already upset that my
jeans were called Hefty! Lets just say that I was pretty sure my Dad was
plotting to KILL me. I had such poor cognitive skills and physical skills and
couldn’t steer , pedal and have the momentum needed to stay up right. Or the Motivation to Learn. I ended up in the Ditch A Lot! Everyday!
My dad would run behind me give me a push and I
would end up down in a ditch covered in scrapes and bruises. Every night at
Dinner it was ‘Don’t you want to ride?” “You’re Not Dumb! you Can do
This!” “Try, Harder!” I’m like those little minions thinking “Wha Wha
WHAT?!?! I’m thinking to myself…NO, YES,Screw You!
Eventually , I
learned how to survive and thrive. and ride the bike, but even now I am not
sure I would ride a bike…maybe a Hover round but not a bike. (The grocery store Amigos are So SLOW…what should take an hour takes 3 lol)
It was pretty though, a Huffy Black and Yellow bike. with a Dirt Bike look and a Yellow seat.. like a bumble bee. Irony…Most medical professionals used to say that XXY kids would never amount to much.. I guess I’m like a bumble bee…not designed to fly but when push comes to shove, I soar
I was 17 years old and living in Orlando. I was playing Football and had not
gone through puberty yet. I guess like everything else I was just a late
bloomer . To top it all off I was blessed enough to attend a private school
with rich privileged kids. I was ostracized by not being rich enough to “Fit”
in but respected enough because my Dad was the President of the School.
Let’s be clear. I know nothing about Sports. My thing was theater! Oh my
bad, there wasn’t a big theater department at this School. My Dad made
this institution great!! I just existed.
While trudging through the dilemmas of High School. I went to a
pediatrician in the Orlando area. His name was Dr. Condron. Dr. Condron
had expressed his concerns over my lack of development. Lack of puberty
and the fact that I had smaller genitalia , male gynaplatasia (Man Boobs)
and just looked under developed for a 17 year old boy. Dr. Condron had
studied at John Hopkins under a Dr. Klinefelter, a British doctor whom had
discovered a syndrome that affects Men only and is a Chromosomal defect
that harbored some of these symptoms. Essentially, the test came back
positive and I had Klinefelter’s Syndrome. I was told that I was born with
extra Chromosomes. 47XXY in my case. I am lucky to an extent because I
could have been born with as many as 60 or 70 but at that point I would be
Down Syndrome. That I produce extremely low levels of Testosterone if
any, I probably won’t ever father children, I have ridiculously poor muscle
quality and am lucky that Football didn’t kill me. Oh and here is a big one.
My Organs are the size of a twelve year old boy. My immune system is
compromised as this is an Autoimmune issue and that I will always be slow
to heal.( My legs currently look like a leprosy colony and I have a blister that popped on the bridge of my foot from a month ago that has not scabbed over and looks infected.)
My parents at that time were told by Dr. Condron , that I may have a reduced life span as
well. That there is NO Cure and that while they would put me on
Testosterone injections, that may or may not help and there were currently
no clinical trials going on and not enough known about the syndrome in
America , and only a paragraph in medical journals and study guides . this
was 1993 and now in 2018 it’s still the same. Maybe a little better I can tell you that 25 years later I have found out that , What 1 patient has or goes through is VERY
different from the next with KS. There are a lot of variables. I know men
that were fat growing up and are skinny now later in life. I know men that
were Skinny and now are Fat. They are unsure where the extras come from
or even which side of the parents contribute if at all? It may not even be
inherited. In the 70’s the spread was 1 in 500 boys are diagnosed. Now the
medical field claims 1 out 1000 will be diagnosed. If you are more of a
scientific reader here is an official breakdown of what
Klinefelter syndrome is a condition in which one or more extra X
chromosomes are present in a male. Boys with this condition appear
normal at birth. They enter puberty normally, but by mid puberty have low
levels of testosterone causing small testicles and the inability to make
sperm. Affected males may also have learning disabilities and behavior
problems such as shyness and immaturity, and an increased risk for certain
other health problems.
Klinefelter syndrome is one of the most common chromosomal
abnormalities. About 1 in every 500 to 800 males is born with this disorder;
approximately 3000 affected boys are born each year in the United States.
About 3% of the infertile male population have Klinefelter syndrome. The
condition appears to affect all racial and ethnic groups equally.
Causes and symptoms:
Chromosomes are found in the cells in the body. Chromosomes contain
genes, structures that tell the body how to grow and develop. Chromosomes
are responsible for passing on hereditary traits from parents to child.
Chromosomes also determine whether the child will be male or female.
Normally, a person has a total of 46 chromosomes in each cell, two of which
are responsible for determining that individual’s sex. These two sex
chromosomes are called X and Y. The combination of these two types of
chromosomes determines the sex of a child. Females have two X
chromosomes (the XX combination); males have one X and one Y
chromosome (the XY combination).
In Klinefelter syndrome, a problem very early in development results in an
abnormal number of chromosomes. About 60% of embryos with Klinefelter
syndrome do not survive the fetal period. Most commonly, a male with
Klinefelter syndrome will be born with 47 chromosomes in each cell, rather
than the normal number of 46. The extra chromosome is an X
chromosome. This means that rather than having the normal XY
combination, the male has an XXY combination. Because people with
Klinefelter syndrome have a Y chromosome, they are all male.
Approximately 1/3 of all males with Klinefelter syndrome have other
chromosomal abnormalities involving an extra X chromosome. Mosaic
Klinefelter syndrome occurs when some of the cells in the body have an
extra X chromosome and the others have normal male chromosomes.
These males can have the same or milder symptoms than nonmosaic
Klinefelter syndrome. Males with more than one additional extra X
chromosome, such as 48,XXXY, are usually more severely affected than
males with 47,XXY.
Klinefelter syndrome is not considered an inherited condition. The risk of
Klinefelter syndrome reoccurring in another pregnancy is not increased
above the general population risk.
The symptoms of Klinefelter syndrome are variable and not every affected
person will have all of the features of the condition. Males with Klinefelter
syndrome appear normal at birth and have normal male genitalia. From
childhood, males with Klinefelter syndrome are taller than average with
long limbs. Approximately 2050%
have a mild intention tremor, an
uncontrolled shaking. Many males with Klinefelter syndrome have poor
upper body strength and can be clumsy. Klinefelter syndrome does not
cause homosexuality. Approximately 1/3 of males with Klinefelter
syndrome have gynecomastia or breast growth, some requiring breast
reduction surgery.
Most boys enter puberty normally, though some can be delayed. The Leydig
cells in the testicles usually produce testosterone. With Klinefelter
syndrome, the Leydig cells fail to work properly causing the testosterone
production to slow. By midpuberty,
testosterone production is decreased
to approximately half of normal. This can lead to decreased facial and pubic
hair growth. The decreased testosterone also causes an increase in two
other hormones, follicle stimulating hormone (FSH) and luteinizing
hormone (LH). Normally, FSH and LH help the immature sperm cells grow
and develop. In Klinefelter syndrome, there are few or no sperm cells. The
increased amount of FSH and LH causes hyalinization and fibrosis, the
growth of excess fibrous tissue, in the seminiferous tubules, where the
sperm are normally located. As a result, the testicles appear smaller and
firmer than normal. With rare exception, men with Klinefelter syndrome
are infertile because they can not make sperm.
While it was once believed that all boys with Klinefelter syndrome are
mentally retarded, doctors now know that the disorder can exist without
retardation. However, children with Klinefelter syndrome frequently have
difficulty with language, including learning to speak, read, and write.
Approximately 50% of males with Klinefelter syndrome are dyslexic.
Some people with Klinefelter syndrome have difficulty with social skills and
tend to be more shy, anxious, or immature than their peers. They can also
have poor judgment and do not handle stressful situations well. As a result,
they often do not feel comfortable in large social gatherings. Some people
with Klinefelter syndrome can also have anxiety, nervousness and/or
depression.
The greater the number of X chromosomes present, the greater the
disability; each extra X chromosome lowers the child’s IQ by about 15
points. Boys with several extra Xchromosomes
have distinctive facial
features, more severe retardation, deformities of bony structures, and even
more disordered development of male features.
Diagnosis
Diagnosis of Klinefelter syndrome is made by examining chromosomes for
evidence of more than one X chromosome present in a male. This can be
done in pregnancy with prenatal testing such as a chorionic villus sampling
or amniocentesis. Chorionic villus sampling is a procedure done early in
pregnancy (approximately 1012
weeks) to obtain a small sample of the
placenta for testing. An amniocentesis is done further along in pregnancy
(from approximately 1618
weeks) to obtain a sample of fluid surrounding
the baby for testing. Both procedures have a risk of miscarriage. Usually
these procedures are done for a reason other than diagnosing Klinefelter
syndrome. For example, a prenatal diagnostic procedure may be done on an
older woman to determine if her baby has Down syndrome. If the diagnosis
of Klinefelter syndrome is suspected in a young boy or adult male,
chromosome testing can also be on a small blood or skin sample after birth.
Many men with Klinefelter syndrome go through life without being
diagnosed. The two most common complaints leading to diagnosis of the
condition are gynecomastia and infertility.
Treatment
There is no treatment available as of the early 2000s to change a person’s
chromosomal makeup. Children with Klinefelter syndrome may benefit
from speech therapy for speech problems or other educational
interventions for learning disabilities. Testosterone injections started
around the time of puberty may help to produce more normal development
including more muscle mass, hair growth and increased sex drive.
Testosterone supplementation will not increase testicular size, decrease
breast growth or correct infertility. Psychiatric consultation may be helpful
when the boy reaches adolescence.
Some doctors recommend mastectomy as a surgical treatment for
gynecomastia, on the grounds that the enlarged breasts are often socially
stressful for affected males and significantly increase their risk of breast
cancer.
Prognosis
While many men with Klinefelter syndrome go on to live normal lives,
nearly 100% of these men will be sterile (unable to produce a child).
However, a few men with Klinefelter syndrome have been reported who
have fathered a child through the use of assisted fertility services.
Males with Klinefelter syndrome have an increased risk of several systemic
conditions, including epilepsy, osteoporosis, such autoimmune disorders as
lupus and arthritis, diabetes, and breast and germ cell tumors. One Danish
study reported in 2004 that men with Klinefelter’s syndrome have a slightly
shortened life span, dying about 2.1 years earlier than men without the
syndrome.
KEY TERMS
Chromosome— A microscopic threadlike
structure found within each cell
of the body and consists of a complex of proteins and DNA. Humans have
46 chromosomes arranged into 23 pairs. Changes in either the total
number of chromosomes or their shape and size (structure) may lead to
physical or mental abnormalities.
Gonadotrophin— Hormones that stimulate the ovary and testicles.
Gynecomastia— Excessive growth of breast tissue in males.
Leydig cells— Cells that make up the endocrine tissue of the testis and
produce testosterone. They are named for Franz von Leydig (1821–1908),
the German professor of anatomy who first identified them.
Testosterone— Hormone produced in the testicles that is involved in male
secondary sex characteristics.
Resources
BOOKS
Beers, Mark H., MD, and Robert Berkow, MD., editors. “Chromosomal
Abnormalities.” Section 19, Chapter 261 In The Merck Manual of Diagnosis
and Therapy. Whitehouse Station, NJ: Merck Research Laboratories, 2004.
Beers, Mark H., MD, and Robert Berkow, MD., editors. “Infertility.” Section
18, Chapter 245 In The Merck Manual of Diagnosis and Therapy.
Whitehouse Station, NJ: Merck Research Laboratories, 2004.
Probasco, Teri, and Gretchen A. Gibbs. Klinefelter Syndrome. Richmond,
IN: Prinit Press, 1999.
PERIODICALS
Bojesen, A., S. Juul, N. Birkebaek, and C. H. Gravholt. “Increased Mortality
in Klinefelter Syndrome.” Journal of Clinical Endocrinology and
Metabolism 89 (August 2004): 38303834.
Chen, Harold, MD. “Klinefelter Syndrome.” eMedicine December 17, 2004.
〈http://emedicine.com/ped/topic1252.htm〉.
Diamond, M., and L. A. Watson. “Androgen Insensitivity Syndrome and
Klinefelter’s Syndrome: Sex and Gender Considerations.” Child and
Adolescent Psychiatric Clinics of North America 13 (July 2004): 623640.
Grosso, S., M. A. Farnetani, R. M. Di Bartolo, et al.
“Electroencephalographic and Epileptic Patterns in X Chromosome
Anomalies.” Journal of Clinical Neurophysiology 21 (JulyAugust
2004):
249253.
Lanfranco, F., A. Kamischke, M. Zitzmann, and E. Nieschlag. “Klinefelter’s
Syndrome.” Lancet 364 (July 17, 2004): 273283.
Tyler, C., and J. C. Edman. “Down Syndrome, Turner Syndrome, and
Klinefelter Syndrome: Primary Care throughout the Life Span.” Primary
Care 31 (September 2004): 627648.
ORGANIZATIONS
Klinefelter’s Organization. PO Box 60, Orpington, BR68ZQ. UK.
〈http://hometown.aol.com/KSCUK/index.htm〉.
Klinefelter Syndrome and Associates, Inc. PO Box 119, Roseville, CA
956780119.
(916) 7732999
or (888) 9999428.
Fax: (916) 7731449.
ksinfo@genetic.org. 〈http://www.genetic.org/ks〉.
National Organization for Rare Disorders (NORD). 55 Kenosia Avenue, P.
O. Box 1968, Danbury, CT 068131968.
(203) 7440100.
Fax: (203)
7982291.
〈http://www.rarediseases.org〉.
OTHER
Klinefelter Syndrome Support Group Home Page.
〈http://klinefeltersyndrome.org/index.html〉.
Beltz, Carin; Frey, Rebecca. “Klinefelter Syndrome.” Gale Encyclopedia of
Medicine, 3rd ed.. 2006. Encyclopedia.com. 19 Feb. 2016
< http://www.encyclopedia.com >
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In talking with other, That is the only thing you can do thoughThis is just some of the studies done internationally. There can always be
more research.
I started at 17 on Testosterone injections once weekly. Then I was wearing
patches, that made my body break out around the injection site. I
remember doing entertainment at a LARGE theme park through college
and wearing these patches under my costume and they would sweat off and
end up in all sorts of odd places. After college while working and living in
NYC I had a testicular Cancer scare. My Dr. at the time said that by trying
to make up for all of the Testosterone my body was not producing I was
putting my body and organs in danger of future issues, that if I could live
with a higher voice register and feminine traits, then maybe I should lay off
the testosterone. I decided at that point to get off the testosterone. a
decision I still Stand by today. I’ll never forget my parents telling me that
even though all this is the reason, that you would never know. That I still
found a way to cope. That internally I figured out a way to find success, to
graduate, to survive. In talking to others that is the Only thing you can do, self cope and figure out how to survive..Lord knows No one exactly listens to you.
My dad recently told my Mom , That know one truly Knows how I have suffered for 43 years. XXY people often shut down and internalize things. Its No wonder why I chose to be an Actor. Acting taught me how to put up a Facade on the outside and become Someone Else ….a trait I still utilize today
One Response
The best description I’ve ever heard in relation to XXY, was the experience was like pushing shit uphill with a rake, and your account just then seems to exemplify this rather well. I enjoyed reading and thanks for sharing with us.