Chris's Real Diagnosis?

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LucridMockery

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I remember seeing a TV special years ago about a 14 year old adopted boy with alot of Chris's tendencies. I didn't remember the name of the condition, but I do remember that it had to do with chromosomes. So, I did some research online and found this...



Klinefelter Syndrome

Here are some of the symptoms: You don't have to have all of them to be diagnosed. Just a genetic test.
At least one Extra X Chromosome
Anxiety
Attention Disorder (ADD/ADHD)
Auditory Processing Disorder
Behavioral issues
Chest Pains accompanied by difficulty breathing
Decreased Stamina

Delayed Onset of Puberty maybe?
Depression
Developmental Delays
Emotional issues/cries easily
Excessive Fatigue
Feeling Socially Inadequate

Fifth Finger Clindactily(???)
Flat Feet maybe?
Focus & Concentration issues
Gynecomastia/Breast tissue enlargement

Impulsiveness
Infertility/lack of Sperm (Would explain you know what)
Lack of Body/Facial Hair
Learning Differences/Language Impairment
Low tone/Hypotonia (???)
Never Takes Responsibility (this is what the support site actually says. what a strange symptom but fits Chris)
Obsessive Compulsive Disorder

Obstructive Sleep Apnea
Osteoporosis
Pear Shaped Body
Pectus Excavatum/Concave chest
Poor Executive Skills
Possible Focal Seizures
Possible Migraines
Respiratory Disorders
Sensory Integration Dysfunction
Shy

Small Testis/Genitalia (maybe? I don't care to take a 2nd look)
Secondary Female Sex Characteristics
Some feelings of Sexual Confusion/Identity
Some feelings of being Intersex

Speech Delay
Tall Stature
Taurodontism/dental issues
Tremors - leg/hand

Definition
Klinefelter syndrome is a chromosomal disorder that affects only males. People with this condition are born with at least one extra X chromosome. The syndrome was first identified and described in 1942 by Harry Fitch Klinefelter, Jr., an American physician.

Description
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 non-mosaic 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 20-50% 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 mid-puberty, 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 X-chromosomes 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 10-12 weeks) to obtain a small sample of the placenta for testing. An amniocentesis is done further along in pregnancy (from approximately 16-18 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.


He could get a genetic test done if Borb never did. This is extremely rare so it probably never came up. Although, I'm sure Chris would rather stick to the Autism!
Funny enough, he was on the money that time he told Kasey he needs testosterone injections, that's how they treat this in boys!
 

LucridMockery

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This one is long as well, so I will highlight the relivant pieces...


PERSONAL HEALTH; The Havoc of an Undetected Extra Chromosome

By JANE E. BRODY
Published: August 31, 2004



Sam's parents began to suspect something was not quite right when at age 2, their son still was not walking and he said nothing that made any sense.

Laboratory and neurological tests showed no abnormalities. But a genetic test revealed that Sam's cells contained an extra copy of the X chromosome. Instead of having 46 chromosomes, including one copy of each of the sex chromosomes, X and Y, the normal complement for a boy, each of Sam's cells had 47 chromosomes, with two X's and one Y, a genetic abnormality commonly called Klinefelter's syndrome.

A doubling of the X chromosome, according to a government study of 40,000 infants in the 1970's, occurs once in every 500 to 1,000 male births, making it one of the most common genetic abnormalities. It is a leading genetic cause of male infertility. Yet nearly two-thirds of boys and men who have Klinefelter's do not know it, and many live out their lives never suspecting that they have an extra chromosome.
As Sam's mother noted in an interview, doctors, too, are often in the dark. ''None of our doctors had ever heard of it,'' she said. ''We did a lot of research on our own.''

Sam is now 13, and through special education services, he has been able to keep up academically. His speech is now normal and while he has had some social problems, he loves sports and participates in athletics, his mother said. As he enters puberty, his levels of testosterone are being checked regularly by an endocrinologist. When they begin to drop below normal, he will receive regular testosterone treatments.

Array of Symptoms

The syndrome was first identified in 1942 by Dr. Harry Klinefelter and colleagues at Massachusetts General Hospital in Boston, and its genetic root was discovered in the late 1950's. Dr. Klinefelter described symptoms that included enlarged breasts, small testes, sparse facial and body hair and an inability to produce sperm.

Later studies revealed other common complaints: delayed speech and motor development; difficulty learning to read and write; very long legs; a rounded body type; decreased muscle mass; a tendency to become overweight; an increased risk of diabetes and osteoporosis; a small penis; and, eventually, a loss of potency.

While overall intellectual abilities are not affected (the I.Q. scores of people with Klinefelter's are only slightly lower than average), XXY males often experience deficits in specific cognitive functions, including language, concept formation, and problem solving, that are similar to those in dyslexic children.

After age 25, about 70 percent of patients complain of decreasing libido and potency, and normal beard growth is present in only about a fifth of patients, wrote Dr. Fabio Lanfranco, and colleagues at the Institute of Reproductive Medicine at the University of Münster in Germany, in a recent article in the journal The Lancet.

Depression, difficulty following through on goals, unusual fatigue and sudden mood swings also often occur in XXY men and boys. There is, however, no increase in psychiatric disturbances, criminal behavior or mental retardation.

Many of the symptoms of Klinefelter's, especially those noted at puberty and beyond, result from a deficiency of testosterone, which occurs in about 80 percent of XXY males after the age of 15. But the expression of these symptoms varies widely, which accounts in part for why so many men and boys with an extra X chromosome go undetected.

Once the genetic abnormality is diagnosed, many of the symptoms can be reversed by regular testosterone treatments starting at puberty and continuing for life, but failure of normal sperm production is not yet correctable.
Today, the term Klinefelter's syndrome has fallen out of favor because its expression is so varied, and most medical researchers now refer to affected boys and men simply as XXY males. Genetic studies have also revealed many variants of the chromosomal mishap. Some boys are born with three or more X chromosomes and one Y, some with two X's and two Y's, and some with a combination of normal XY cells and abnormal XXY cells. The latter are called genetic mosaics, and they tend to have fewer symptoms than boys with only XXY cells.

These unusual combinations most often result from problems during the formation of the egg or sperm that result in a failure of the two sex chromosomes in a germ cell to separate properly.

Treatment Can Help

Early recognition and treatment of Klinefelter's syndrome can significantly improve the patient's quality of life and prevent serious consequences, Dr. Lanfranco and his team wrote. When testosterone levels are low, they said, replacement therapy should be started as early as possible. This results in increased masculinity, strength, libido, bone mineral density and body hair. It also has a positive effect on mood and behavior, improves goal-directed thinking and self-esteem and reduces fatigue and irritability.
Testosterone therapy is also beneficial to the cardiovascular system, though it has no effect on fertility. For Klinefelter patients with bothersome breast development, surgical removal of excess tissue is possible.

But long before testosterone replacement is needed, XXY boys can benefit from special education classes, speech therapy and social behavior training. For those seeking a solution to their infertility, it is now possible in some cases to extract sperm directly from the testes and insert them into an egg outside the woman's body. After fertilization and early embryonic development, the embryos can be checked to be sure they too do not contain the XXY defect before inserting them into the womb. One expert has reported a live birth rate of 20 percent following this procedure in 20 couples affected by XXY infertility. (Why would you want to?)

I especially like the Mayo clinic site's advice. Borb did none of this!

Coping and support
By Mayo Clinic staff

With treatment and support, men with Klinefelter syndrome can expect to lead a normal life. The condition may cause minor symptoms that are hardly noticeable. Educational and social support can make a positive difference.

Boys with Klinefelter syndrome
To help your son cope with Klinefelter syndrome and promote healthy mental, physical, emotional and social development:

Monitor your son's development carefully and seek help for problems you notice, such as trouble with speech or language.

Encourage participation in sports and physical activities that will help build muscle strength and motor skills.

Encourage your son to be independent. Be supportive but not overly protective, and provide a home environment with lots of positive feedback and encouragement.

Cooperate closely with your son's school. Teachers, school counselors and administrators who understand your son's needs can make a big difference.

Learn what support is available, such as special education services.

Connect with other parents. Klinefelter syndrome is a common condition, and you — and your son — aren't alone. A number of Internet resources and support groups may help answer your questions and ease concerns.
 

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Considering how many things were half-assed in the Chandler household, I'm sure Chris's diagnosis was one of them. No second opinion, no new evaulations to determine if previous diagnosis were accurate. Chris has latched on to that diagnosis and made it so much of a part of who he is that I don't think he would ever accept a new diagnosis or updated terminology for it.

I went to high school with a kid that had klinefelter syndrome and Chris definitely reminds me of him both physically and socially. You might be on to something.
 

NobleGreyHorse

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People have advanced this theory many times over the years, and it's been shot down every time. Men with this condition tend to be taller than average, with long limbs. Chris is 5'10" or so, hardly above average, and certainly doesn't have unusually gangly limbs in proportion to the rest of his body -- whereas I actually knew a kid in school who had this, and he definitely had that Slenderman body type going on. OPL doesn't shake that we've seen (although that would explain his unique drawing style), and no one's made mention of comorbid syndromes like epilepsy or some autoimmune disorder. Also, Chris doesn't have sparse body hair; look at his arms in some of the date-with-Faeryn pictures, for example. He just shaves it, as he himself has said many times.
 

Abhor-able

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Chris is exactly as he is diagnosed.

also, 5'10 is the average height for a male in the US. Considering his diet, the fact he is only of average height is something worth discussing.
 

LucridMockery

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NobleGreyHorse said:
People have advanced this theory many times over the years, and it's been shot down every time. Men with this condition tend to be taller than average, with long limbs. Chris is 5'10" or so, hardly above average, and certainly doesn't have unusually gangly limbs in proportion to the rest of his body -- whereas I actually knew a kid in school who had this, and he definitely had that Slenderman body type going on. OPL doesn't shake that we've seen (although that would explain his unique drawing style), and no one's made mention of comorbid syndromes like epilepsy or some autoimmune disorder. Also, Chris doesn't have sparse body hair; look at his arms in some of the date-with-Faeryn pictures, for example. He just shaves it, as he himself has said many times.
Remember his father was very short (about 5'5") so maybe Chris would have been short like his father otherwise. Plus you don't have to have every symptom and it explains a hell of alot more of his antics and idiosyncrasies than having *just* Autism. The one article I posted mentions how there is a huge variance is this condition and that most people don't even know that they have it their whole lives. The man boobs (which he had when he was thin in High School) are the result of hormones plain and simple.

Anyway, it's just a theory.
 

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NobleGreyHorse said:
People have advanced this theory many times over the years, and it's been shot down every time. Men with this condition tend to be taller than average, with long limbs. Chris is 5'10" or so, hardly above average, and certainly doesn't have unusually gangly limbs in proportion to the rest of his body -- whereas I actually knew a kid in school who had this, and he definitely had that Slenderman body type going on. OPL doesn't shake that we've seen (although that would explain his unique drawing style), and no one's made mention of comorbid syndromes like epilepsy or some autoimmune disorder. Also, Chris doesn't have sparse body hair; look at his arms in some of the date-with-Faeryn pictures, for example. He just shaves it, as he himself has said many times.

The kid i knew in high school that had it was only like 5ft 6. I guess don't have to have every single symptom to get that diagnosis.
 

CatParty

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LucridMockery said:
NobleGreyHorse said:
People have advanced this theory many times over the years, and it's been shot down every time. Men with this condition tend to be taller than average, with long limbs. Chris is 5'10" or so, hardly above average, and certainly doesn't have unusually gangly limbs in proportion to the rest of his body -- whereas I actually knew a kid in school who had this, and he definitely had that Slenderman body type going on. OPL doesn't shake that we've seen (although that would explain his unique drawing style), and no one's made mention of comorbid syndromes like epilepsy or some autoimmune disorder. Also, Chris doesn't have sparse body hair; look at his arms in some of the date-with-Faeryn pictures, for example. He just shaves it, as he himself has said many times.
Remember his father was very short (about 5'5") so maybe Chris would have been short like his father otherwise. Plus you don't have to have every symptom and it explains a hell of alot more of his antics and idiosyncrasies than having *just* Autism. The one article I posted mentions how there is a huge variance is this condition and that most people don't even know that they have it their whole lives. The man boobs (which he had when he was thin in High School) are the result of hormones plain and simple.

Anyway, it's just a theory.


chris's nips are much much bigger
 

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CatParty said:
LucridMockery said:
NobleGreyHorse said:
People have advanced this theory many times over the years, and it's been shot down every time. Men with this condition tend to be taller than average, with long limbs. Chris is 5'10" or so, hardly above average, and certainly doesn't have unusually gangly limbs in proportion to the rest of his body -- whereas I actually knew a kid in school who had this, and he definitely had that Slenderman body type going on. OPL doesn't shake that we've seen (although that would explain his unique drawing style), and no one's made mention of comorbid syndromes like epilepsy or some autoimmune disorder. Also, Chris doesn't have sparse body hair; look at his arms in some of the date-with-Faeryn pictures, for example. He just shaves it, as he himself has said many times.
Remember his father was very short (about 5'5") so maybe Chris would have been short like his father otherwise. Plus you don't have to have every symptom and it explains a hell of alot more of his antics and idiosyncrasies than having *just* Autism. The one article I posted mentions how there is a huge variance is this condition and that most people don't even know that they have it their whole lives. The man boobs (which he had when he was thin in High School) are the result of hormones plain and simple.

Anyway, it's just a theory.


chris's nips are much much bigger

300px-Unclesam.png
 

DykesDykesChina

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This Klinefelter's stuff sounds interesting, but personally I'm behind the idea that Chris's problem is in fact a malady known as Morbus Autisticus Manchildus. It is caused by microscopic blue hedgehog things running wild in your bloodstream and connecting you to the galaxy-encompassing Autism Field.
 

acrylicpaint

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DykesDykesChina said:
This Klinefelter's stuff sounds interesting, but personally I'm behind the idea that Chris's problem is in fact a malady known as Morbus Autisticus Manchildus. It is caused by microscopic blue hedgehog things running wild in your bloodstream and connecting you to the galaxy-encompassing Autism Field.

I_can_feel_the_cosmos.jpg
 

BALLZ-BROKEN

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LucridMockery said:
Remember his father was very short (about 5'5") so maybe Chris would have been short like his father otherwise.

Bob was an old man when Chris was conceived. You shrink when you get older, and I'm sure Bob's paunch didn't help either.
 

regularjohn

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I dunno, i fit into just as many of those categories as chris, and I'm pretty sure I dont have this. When you have a ton of symptoms like that, and you have someone with a lot of problems, of course youre going to end up with stupid results. We could probably prove that chris has bipolar dementia if we tried hard enough.
 

Smokedaddy

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Jumping in belatedly to derail the thread (what else is there to do on Sunday nights in the Godforsaken town, I ask you): It was mentioned upthread that Chris likely got his diagnosis without a second medical opinion.

Nyet, my students.

Chris gets SSDI benefits, including Medicare. They don't give anyone keys to the tugboat without multiple formal medical opinions; the idea that he didn't get a second opinion is incorrect. That's Federal and the requirements are the same here as they are in Rednecksbuttburg, VA. There are plenty of things known that make Chr­is look, um, rather strange, making up new ones isn't necessary.
 

Kyu

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I teach in a school that accepts special students (which is a nightmare, but... meh)

One of the kids reminds me of Chris, and he's diagnosed with autism.
He's actually a little slower than Chris, but it could be because he's younger (5th grade)

So yeah, I do believe autism is a correct diagnosis for Chris.
 

Surtur

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Frankly, I think he drank shakes made with lead based paint while bashing his head into a brick wall.
 

CatParty

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Surtur said:
Frankly, I think he drank shakes made with lead based paint while bashing his head into a brick wall.


so he was eating mcdonalds since he was a baby?
 
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