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So, I figured that I'd share the big paper that I wrote last night with you all. I know it won't be of interest to everyone, but I figured that some of you might like to read it. It's very long, and it's very personal, so you'll have to bear with me. Yes, everything in it, word for word, is true. If you have any questions or whatever after reading it, feel free to ask. I would love, LOVE any feedback.
My name is Brianna Bertrand, and I have a chromosomal disorder called Turner’s syndrome. Turner’s syndrome, in the words of the Turner’s syndrome Society, “is caused by the complete or partial absence of one of the two X chromosomes normally found in women.” Also, according to the National Library of Medicine, “about half of individuals with Turner syndrome have monosomy X, which means each cell in the individual's body has only one copy of the X chromosome instead of the usual two sex chromosomes. Turner’s syndrome can also occur if one of the sex chromosomes is partially missing or rearranged rather than completely missing. Some women with Turner syndrome have a chromosomal change in only some of their cells, which is known as X-chromosome mosaicism.”
It was named after Dr. Henry Turner, who described its features in the 1930’s; the chromosomal deficiency that causes it wasn’t discovered until 1959. Other names for it include Bonnevie-Ullrich Syndrome, monosomy X, TS, Ullrich-Turner Syndrome, and 45,X. It is found in about 1 out of 2500 live female babies, although it is sometimes difficult to diagnose at birth, and is thought to be more even more common in pregnancies that do not survive to term. Turner’s syndrome is not hereditary. It affects all races, nationalities, and regions of the world in equal measures. There are no hazardous materials or toxins that can increase the chances of having a baby with Turner’s.
The most common effects of Turner’s syndrome are short stature (which is thought to be at least in part because of the absence of the action SHOX gene on the X chromosome), and lack of eggs in the ovaries. The average height of a girl with Turner’s syndrome is 4 feet 8 inches. Now, most girls with Turner’s syndrome lose their normal ovarian function in the womb, or in early childhood, in effect going into an extremely early menopause. The result of this is that the girl doesn’t go through a normal puberty without the help of hormone replacement therapy; some secondary or primary sexual characteristics may develop or start to develop, but stop eventually.
Girls with Turner’s are also highly susceptible to osteoporosis (thin or weak bones), probably due to a lack of estrogen. The severity of osteoporosis might be affected by the loss of unknown X chromosome genes. The kidneys, heart, and thyroid can also be affected by Turner’s; high blood pressure, a stricture of the main artery (10% of girls with Turner’s syndrome have this), diabetes, and coarctation (narrowing or constriction of the aorta, which some 5-10% of girls experience) are just some examples of problems that Turner’s can cause. Interestingly enough, 10% of girls with Turner’s syndrome have minor, or less serious, heart anomalies.
Approximately 1/3 of individuals with Turner’s syndrome develop kidney problems; there are three types associated with Turner’s syndrome. The first, that one of the kidneys is horse-shaped; the second, an abnormal urinary collecting system; the third, an abnormal artery supply to the kidneys.
Approximately 1/3 of girls with Turner’s syndrome develop thyroid problems, the most common being hyperthyroidism, which is basically the overworking of the thyroid. Other problems that Turner’s syndrome can cause are skeletal disorders or problems such as scoliosis and osteoporosis (as mentioned). Dislocated hips sometimes occur, along with hearing, ear, and eye disturbances; short-sightedness and frequent middle ear infections are some examples of other problems that Turner’s can cause. There are also a number of physical features associated with Turner’s syndrome, including webbed neck (caused by lymphoedema, which is faulty lymphatic drainage, cause by constriction of the lymph nodes during fetal development; approximately 40% of girls with Turner’s syndrome have this), arms that turn out slightly at the elbow, lots of moles, droopy eyelids, low-set ears, short fourth toe and short fingers, high arch palate, puffy hands and feet (again caused by caused by lymphoedema), and a low hairline.
As mentioned, girls with Turner’s have potential risk of developing diabetes; they are twice as likely as the general population to develop it. There is no known reason for this, but it appears that the muscles in girls with Turner’s have problems utilizing glucose properly, leading to high blood sugar levels. Also, because the burning of calories is reduced in anyone of small stature, those with Turner’s syndrome are often overweight; this also aided by an under-active thyroid gland and some forms of hormone replacement therapy, both of which some girls with Turner’s experience.
Now, there is no connection between Turner’s syndrome and mental retardation, but there may be some differences in ways of learning that make math and spatial problems difficult, and verbal learning easier. There are no mental disorders associated with it, but many girls with Turner’s have a decreased self-esteem and problems with body image; they may also be hyperactive. As it is a chromosomal disorder, there is no cure for Turner’s, but there are many treatments available for the symptoms and conditions that it causes. Growth hormone can help improve height and development; estrogen replacement therapy can help develop secondary sexual characteristics, and is important for maintaining good tissue and bone integrity.
In-Vitro fertilization and adoption are available for those who want to have children; I myself plan on getting pregnant via In-Vitro once, and adopting once. Moving on to a different subject, the test most commonly used to diagnose Turner’s is a blood test called a karyotype; it analyzes the chromosomal composition of the individual. Because of the various potential problems and conditions associated with Turner’s syndrome, it is recommended that every individual with Turner’s should see a doctor-an endocrinologist-at least once a year.
Some of the common tests done for monitoring the health and condition of the individual are weight, blood pressure, urine tests (for glucose), blood test (for thyroid and kidney function), bone mineral density measurement (done every couple of years), and hearing tests. Now, as I mentioned, I myself have Turner’s syndrome. I was very lucky, in that I was diagnosed at birth; it can be very difficult to diagnose before puberty, if the individual lacks any of the major outer signs or doesn’t develop any of the internal problems associated with Turner’s. I was born with the puffy hands and feet that can happen with Turner’s, along with the webbed neck; my doctor, very fortunately, had just read a paper on Turner’s, and had the symptoms fresh in his mind.
He had the karyotype blood test done on me, and sure enough, I was missing an entire chromosome; as an aside note, it is called ‘mosaic’ when only parts of a chromosome are missing. Anyway, like most girls with Turner’s, I took growth hormone shots; my mom began to give them to me every other day when I turned five, and then when I was age ten I began to give them to myself every night. I continued doing this until I was nearly sixteen. When I was fifteen, I began taking birth control pills, for the estrogen and progesterone, which of course my body doesn’t produce; I will continue to take these pills for the rest of my life.
I have many of the physical symptoms linked with Turner’s-I had puffy hands and feet, and my nails grow up and out instead of just out (this is due to the lymphoedema that can happen); my ears are shaped differently, and are low-set; I have a very low hairline, a high palate in my mouth, and lots of moles; I am also very short. As I mentioned, I was born with webbed skin on my neck, but I had two surgeries done to correct this. The surgeries were fairly simple and easy, but they weren’t fun-I had to wear a neck brace for two weeks, and wasn’t able to bathe during that time because I couldn’t get the stitches or the brace wet.
The doctor that did the surgeries wants me to have a third one, but I don’t need it and am not planning on having it done. The surgeries were worth it, even though I have a fairly sizeable scar from the tip of my ear to the base of my shoulder on both sides of my neck-I don’t have the webbed skin anymore, and I have a great deal more mobility in my neck. As far as some of the internal problems that are associated with Turner’s syndrome goes, I feel very lucky-I don’t have any major problems. One of my kidneys is shaped like a horseshoe, and I’ve had two kidney infections, along with numerous bladder and yeast infections. I’ve had many tests done on my kidneys, including ultrasounds, one test where I had to have a catheter and an IV while they monitored my kidneys, and a test where I had just a catheter in while they monitored my kidneys. Speaking of medical tests, I’ve been thorough a lot of them in my lifetime: blood-work every year or half a year, bone density tests (which is just an x-ray), ultrasounds not only on my kidneys, but my heart; urine tests and echocardiograms, just to name a few.
Speaking of my heart, I don’t have any major heart problems, but I have been diagnosed with a bicuspid aortic valve, which is a condition where two of the three leaflets over the aortic valve attached to the top of the heart, which open and close to let blood in, are fused together; as many as 15% of girls with Turner’s develop this. I’m at risk of developing sub-acute bacterial endocarditis, which is an infection of the heart caused by bacteria in the blood stream because of it. I’ve also had a good amount of the other symptoms associated with Turner’s; I was born with dislocated hips, and I had a lot of ear infections as a child, and I do have problems with sight. I have very slight difficulties with spatial distances and math.
To go off-track for a moment, interestingly enough, Turner’s syndrome does not just occur in humans; it occurs in mice and horses as well! According to the ‘Hypertexts for Biomedical Sciences’ website, “XO mice have been reported to be fertile and have histologically normal ovaries. However, quantitative histology on such ovaries collected between 12 and 200 days of age revealed that they had approximately half the number of oocytes as their XX siblings - even at day 12 of life, the population of growing follicles was clearly retarded.”
Regarding horses, the ‘Hypertext for Biomedical Sciences website says, “X monosomy appears to be a relatively common cytogenetic disorder in mares. Affected animals appear normal externally, but with a smaller than normal vulva. The uterus is also small, the cervix usually open and flaccid and the ovaries range in size from small to very small. Most XO mares fail to cycle, although some show sporadic or indistinct periods of estrous behavior. This abnormality should definitely be put on a list of differential diagnoses for any cases of unexplained reproductive failure in mares, particularly if associated with genital tract infantilism.”
To get back on track, I’ve had the opportunity to get to know a lot of other girls with Turner’s syndrome, for which I am very grateful. My parents and I attended a few Turner’s Syndrome Society meetings when I was younger, where I met a girl named Danielle, whose kidneys were fused to her spine. I’ve gone to a week-long camp set up by Children’s Hospital Los Angeles two years in a row, which has given me some of the best experiences of my life, and where I’ve met some of my best friends. I’ve talked to a woman with Turner’s syndrome who underwent In-Vitro fertilization twice, and is now pregnant with twin girls; that was a really good experience for me, because I plan on trying In-Vitro fertilization myself someday, as I mentioned.
I’ve met girls who are younger and taller than me, and girls that are older and shorter than me. I’ve met girls whose symptoms are extremely similar to mine, and girls whose symptoms are radically different from mine. The main thing that these experiences have taught me was how amazingly different and unique every girl with Turner’s syndrome really is. Every girl’s symptoms and experiences differ.
My name is Brianna Bertrand, and I have a chromosomal disorder called Turner’s syndrome. Turner’s syndrome, in the words of the Turner’s syndrome Society, “is caused by the complete or partial absence of one of the two X chromosomes normally found in women.” Also, according to the National Library of Medicine, “about half of individuals with Turner syndrome have monosomy X, which means each cell in the individual's body has only one copy of the X chromosome instead of the usual two sex chromosomes. Turner’s syndrome can also occur if one of the sex chromosomes is partially missing or rearranged rather than completely missing. Some women with Turner syndrome have a chromosomal change in only some of their cells, which is known as X-chromosome mosaicism.”
It was named after Dr. Henry Turner, who described its features in the 1930’s; the chromosomal deficiency that causes it wasn’t discovered until 1959. Other names for it include Bonnevie-Ullrich Syndrome, monosomy X, TS, Ullrich-Turner Syndrome, and 45,X. It is found in about 1 out of 2500 live female babies, although it is sometimes difficult to diagnose at birth, and is thought to be more even more common in pregnancies that do not survive to term. Turner’s syndrome is not hereditary. It affects all races, nationalities, and regions of the world in equal measures. There are no hazardous materials or toxins that can increase the chances of having a baby with Turner’s.
The most common effects of Turner’s syndrome are short stature (which is thought to be at least in part because of the absence of the action SHOX gene on the X chromosome), and lack of eggs in the ovaries. The average height of a girl with Turner’s syndrome is 4 feet 8 inches. Now, most girls with Turner’s syndrome lose their normal ovarian function in the womb, or in early childhood, in effect going into an extremely early menopause. The result of this is that the girl doesn’t go through a normal puberty without the help of hormone replacement therapy; some secondary or primary sexual characteristics may develop or start to develop, but stop eventually.
Girls with Turner’s are also highly susceptible to osteoporosis (thin or weak bones), probably due to a lack of estrogen. The severity of osteoporosis might be affected by the loss of unknown X chromosome genes. The kidneys, heart, and thyroid can also be affected by Turner’s; high blood pressure, a stricture of the main artery (10% of girls with Turner’s syndrome have this), diabetes, and coarctation (narrowing or constriction of the aorta, which some 5-10% of girls experience) are just some examples of problems that Turner’s can cause. Interestingly enough, 10% of girls with Turner’s syndrome have minor, or less serious, heart anomalies.
Approximately 1/3 of individuals with Turner’s syndrome develop kidney problems; there are three types associated with Turner’s syndrome. The first, that one of the kidneys is horse-shaped; the second, an abnormal urinary collecting system; the third, an abnormal artery supply to the kidneys.
Approximately 1/3 of girls with Turner’s syndrome develop thyroid problems, the most common being hyperthyroidism, which is basically the overworking of the thyroid. Other problems that Turner’s syndrome can cause are skeletal disorders or problems such as scoliosis and osteoporosis (as mentioned). Dislocated hips sometimes occur, along with hearing, ear, and eye disturbances; short-sightedness and frequent middle ear infections are some examples of other problems that Turner’s can cause. There are also a number of physical features associated with Turner’s syndrome, including webbed neck (caused by lymphoedema, which is faulty lymphatic drainage, cause by constriction of the lymph nodes during fetal development; approximately 40% of girls with Turner’s syndrome have this), arms that turn out slightly at the elbow, lots of moles, droopy eyelids, low-set ears, short fourth toe and short fingers, high arch palate, puffy hands and feet (again caused by caused by lymphoedema), and a low hairline.
As mentioned, girls with Turner’s have potential risk of developing diabetes; they are twice as likely as the general population to develop it. There is no known reason for this, but it appears that the muscles in girls with Turner’s have problems utilizing glucose properly, leading to high blood sugar levels. Also, because the burning of calories is reduced in anyone of small stature, those with Turner’s syndrome are often overweight; this also aided by an under-active thyroid gland and some forms of hormone replacement therapy, both of which some girls with Turner’s experience.
Now, there is no connection between Turner’s syndrome and mental retardation, but there may be some differences in ways of learning that make math and spatial problems difficult, and verbal learning easier. There are no mental disorders associated with it, but many girls with Turner’s have a decreased self-esteem and problems with body image; they may also be hyperactive. As it is a chromosomal disorder, there is no cure for Turner’s, but there are many treatments available for the symptoms and conditions that it causes. Growth hormone can help improve height and development; estrogen replacement therapy can help develop secondary sexual characteristics, and is important for maintaining good tissue and bone integrity.
In-Vitro fertilization and adoption are available for those who want to have children; I myself plan on getting pregnant via In-Vitro once, and adopting once. Moving on to a different subject, the test most commonly used to diagnose Turner’s is a blood test called a karyotype; it analyzes the chromosomal composition of the individual. Because of the various potential problems and conditions associated with Turner’s syndrome, it is recommended that every individual with Turner’s should see a doctor-an endocrinologist-at least once a year.
Some of the common tests done for monitoring the health and condition of the individual are weight, blood pressure, urine tests (for glucose), blood test (for thyroid and kidney function), bone mineral density measurement (done every couple of years), and hearing tests. Now, as I mentioned, I myself have Turner’s syndrome. I was very lucky, in that I was diagnosed at birth; it can be very difficult to diagnose before puberty, if the individual lacks any of the major outer signs or doesn’t develop any of the internal problems associated with Turner’s. I was born with the puffy hands and feet that can happen with Turner’s, along with the webbed neck; my doctor, very fortunately, had just read a paper on Turner’s, and had the symptoms fresh in his mind.
He had the karyotype blood test done on me, and sure enough, I was missing an entire chromosome; as an aside note, it is called ‘mosaic’ when only parts of a chromosome are missing. Anyway, like most girls with Turner’s, I took growth hormone shots; my mom began to give them to me every other day when I turned five, and then when I was age ten I began to give them to myself every night. I continued doing this until I was nearly sixteen. When I was fifteen, I began taking birth control pills, for the estrogen and progesterone, which of course my body doesn’t produce; I will continue to take these pills for the rest of my life.
I have many of the physical symptoms linked with Turner’s-I had puffy hands and feet, and my nails grow up and out instead of just out (this is due to the lymphoedema that can happen); my ears are shaped differently, and are low-set; I have a very low hairline, a high palate in my mouth, and lots of moles; I am also very short. As I mentioned, I was born with webbed skin on my neck, but I had two surgeries done to correct this. The surgeries were fairly simple and easy, but they weren’t fun-I had to wear a neck brace for two weeks, and wasn’t able to bathe during that time because I couldn’t get the stitches or the brace wet.
The doctor that did the surgeries wants me to have a third one, but I don’t need it and am not planning on having it done. The surgeries were worth it, even though I have a fairly sizeable scar from the tip of my ear to the base of my shoulder on both sides of my neck-I don’t have the webbed skin anymore, and I have a great deal more mobility in my neck. As far as some of the internal problems that are associated with Turner’s syndrome goes, I feel very lucky-I don’t have any major problems. One of my kidneys is shaped like a horseshoe, and I’ve had two kidney infections, along with numerous bladder and yeast infections. I’ve had many tests done on my kidneys, including ultrasounds, one test where I had to have a catheter and an IV while they monitored my kidneys, and a test where I had just a catheter in while they monitored my kidneys. Speaking of medical tests, I’ve been thorough a lot of them in my lifetime: blood-work every year or half a year, bone density tests (which is just an x-ray), ultrasounds not only on my kidneys, but my heart; urine tests and echocardiograms, just to name a few.
Speaking of my heart, I don’t have any major heart problems, but I have been diagnosed with a bicuspid aortic valve, which is a condition where two of the three leaflets over the aortic valve attached to the top of the heart, which open and close to let blood in, are fused together; as many as 15% of girls with Turner’s develop this. I’m at risk of developing sub-acute bacterial endocarditis, which is an infection of the heart caused by bacteria in the blood stream because of it. I’ve also had a good amount of the other symptoms associated with Turner’s; I was born with dislocated hips, and I had a lot of ear infections as a child, and I do have problems with sight. I have very slight difficulties with spatial distances and math.
To go off-track for a moment, interestingly enough, Turner’s syndrome does not just occur in humans; it occurs in mice and horses as well! According to the ‘Hypertexts for Biomedical Sciences’ website, “XO mice have been reported to be fertile and have histologically normal ovaries. However, quantitative histology on such ovaries collected between 12 and 200 days of age revealed that they had approximately half the number of oocytes as their XX siblings - even at day 12 of life, the population of growing follicles was clearly retarded.”
Regarding horses, the ‘Hypertext for Biomedical Sciences website says, “X monosomy appears to be a relatively common cytogenetic disorder in mares. Affected animals appear normal externally, but with a smaller than normal vulva. The uterus is also small, the cervix usually open and flaccid and the ovaries range in size from small to very small. Most XO mares fail to cycle, although some show sporadic or indistinct periods of estrous behavior. This abnormality should definitely be put on a list of differential diagnoses for any cases of unexplained reproductive failure in mares, particularly if associated with genital tract infantilism.”
To get back on track, I’ve had the opportunity to get to know a lot of other girls with Turner’s syndrome, for which I am very grateful. My parents and I attended a few Turner’s Syndrome Society meetings when I was younger, where I met a girl named Danielle, whose kidneys were fused to her spine. I’ve gone to a week-long camp set up by Children’s Hospital Los Angeles two years in a row, which has given me some of the best experiences of my life, and where I’ve met some of my best friends. I’ve talked to a woman with Turner’s syndrome who underwent In-Vitro fertilization twice, and is now pregnant with twin girls; that was a really good experience for me, because I plan on trying In-Vitro fertilization myself someday, as I mentioned.
I’ve met girls who are younger and taller than me, and girls that are older and shorter than me. I’ve met girls whose symptoms are extremely similar to mine, and girls whose symptoms are radically different from mine. The main thing that these experiences have taught me was how amazingly different and unique every girl with Turner’s syndrome really is. Every girl’s symptoms and experiences differ.
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