Congenital conditions

waltky

Wise ol' monkey
Feb 6, 2011
26,211
2,590
275
Okolona, KY
A painless disorder...
:confused:
Congenital analgesia: The agony of feeling no pain
16 July 2012 - Steven Pete and his brother were born with the rare genetic disorder congenital analgesia. They grew up - in Washington state, US - with a sense of touch but, as he explains in his own words, without ever feeling pain.
It first became apparent to my parents that something was wrong when I was four or five months old. I began chewing on my tongue while teething. They took me to a paediatrician where I underwent a series of tests. At first they put a cigarette lighter underneath my foot and waited for my skin to blister. Once they saw that I had no response to that then they began running needles up and down my spine. And since I had no response to either of those tests they came to the conclusion that I had what I have - congenital analgesia. By which point, I had chewed off about a quarter of my tongue through teething.

We grew up on a farm. My mum and dad tried to be protective without stifling my brother and me. But when you're out in the country, especially if you're a boy, you're going to go out and explore and get in a little mischief. So during my early childhood I was absent from school a lot due to injury and illness. There was one time, at the roller-skating rink. I can't recall all of the details, but I know that I broke my leg. People were pointing at me because my pants were just covered in blood from where the bone came out. After that, I wasn't allowed to roller skate until I was much older.

When I was five or six years old, I was taken away from my home by child protective services. Someone had reported my parents for child abuse. I was in the state's care for, I believe, two months. And during that time I broke my leg before they finally realised that my parents and the paediatrician were telling the truth about my condition. At school, a lot of children would have questions about my condition. They would ask: "Why do you have a cast on?" Most of the time I was in a cast, until I was around 11 or 12. I was involved in fights quite frequently. Whenever a new kid came to school, the children would try to get that person to come and pick a fight me, as a kind of introduction to the school. They would say: "If you can't feel pain, you will once I'm done with you."

Nowadays, I am not a particularly reckless person. I believe I'm actually more vigilant than most people because I know that if I were to injure myself I wouldn't know how severe it would be. Internal injuries are the ones I fear the most. Appendicitis is what really scares me. Usually whenever I have any type of stomach issues or a fever I go to the hospital just to get it checked out. The last time I had a broken bone, my wife actually noticed before I did. My foot was swollen, black and blue, so I went to the doctor and had an X-ray and they told me that I had broken two of my toes and they wanted to put a cast on it. I had to go to work the next day. If had a cast on I wasn't going to be able to work for quite some time so I just told them I'd take care of myself. I went home and took some duct tape, taped it up, put my boots on and went to work that next morning.

More BBC News - Congenital analgesia: The agony of feeling no pain
 
Pain has a purpose, it seems.

I've heard of this particular disorder before. My mom thought my older brother had it because he ran into a rose bush and a thorn went into his eye, and he didn't react. He was about 5.

As it turns out, he was just tough. We all are. But mom had had some sort of experience with a kid who had it...I think he ended up getting an infection and dying or something (that would have been the late 40s-1951 maybe). He'd get cuts and not know it, that sort of thing.
 
My son has low sensory threshold.. In simple terms he has a high pain tolerance.
This effected him learning how to talk, walk up stairs, and other such issues. He doesn't know where his body is in relation to the space around him. Lucky for me I noticed there was a problem a few months before he turned two and he has been in therapy ever since.
He does really well now, and actually does very well at school, especially When he wears a weighted vest.
He was classified as disabled because he had three or more delays, but When they reviewed him at four he no longer had to have that classification. He still is in a special pre school program at the public school but he will be able to enter a regular kindergarten class.
We are so lucky these days to have so much help When it comes to these sort of things.
 
My boy has certain issues with gait and impulse control. I refused to get him diagnosed because I didn't want those diagnoses to hang around him for the rest of his life...I had the sense with him that he could overcome those issues without having them identified and stuck in his school file...

I'm no implying everyone should do this, I did it because I didn't think labeling him, specifically, with his issues, was going to do him any good...

I'm so glad I refused to do it! He's been referred for the talented and gifted program and he's a super athlete. After he wrecked his bike, he ran to school while his sister and I rode bikes for about a week or two..and since he did that, even his gait and balance have improved 100 fold...sometimes kids just develop at different rates. Sometimes parts of them develop at different rates. I couldn't take him to church for the first 7 years of his life, he absolutely wouldn't sit still. I couldn't keep my daughter from running headlong into the road until she was 7 or so...but they're not stupid and they don't need medication. They just took longer to be able to control their running/jumping impulse.
 
Yeah my son will be very good at sports, kid could drop kick a ball at three. Now If he would just pick a dominate hand. Lol
 
Hang in there...kids are different. I'm sad that we live in a society that tells boys there is something wrong with them if they don't fit a mold at a young age. My son falls for no apparent reason and absolutely hated running until just the last couple of months. Seriously, running along when we rode bikes improved him immediately..I don't know if it was just doing it that brought about the change, or if that coincided with a developmental leap but the change was really obvious.

But the kid who hates to run (won't race) and falls at the drop of a hat was AMAZING in basketball.

The kid who people say "omg have you had him tested for ADHD/Hyperactivity/impulse control blah blah blah blah" has been referred for testing because his teacher thinks he gifted.

I still get it. People who say stupid things like "don't give that kid sugar!" or "He's had too much sugar!" apparently think little boys are just supposed to sit on their hands and say "yes ma'am" and "no ma'am" and wait for someone to give them a pencil and paper so they can draw pictures of flowers.

That's not my boy. That's not most boys.
 
Amazing spine surgery...
:clap2:
Pioneering surgery repairs girl's spine with leg bone
7 December 2012 - Rosie Davies had a 10cm gap in her spine bridged with bone from her legs
A five-year old girl has had pioneering surgery to repair a large gap in her spine using bone taken from her legs. Before the operation, Rosie Davies, from Walsall in the West Midlands, was "basically a timebomb", her family said. Missing bones in her spine meant her upper body weight was unsupported and her inner organs were being crushed. The lifesaving surgery came at the cost of her lower legs, which she had always been unable to move. Rosie was born with a very rare disorder called spinal segmental dysgenesis. Five bones which made up part of her spine were missing, leaving a 10cm gap in her backbone. Her legs were also contorted up against her belly and she had very little feeling in them. She was slowly running out of space in her chest - and running out of time. Eventually the internal crush would have led to Rosie's organs failing, which would have killed her. In her last scan before the operation there was evidence of her kidneys being crushed.

Leg-to-spine

Rosie's legs were amputated from the knee down and a section of bone was taken to bridge the gap in her spine. Two metal rods were then bolted to the upper spine and the hips to provide extra support. The operation at Birmingham Children's Hospital took 13 hours. Her dad Scott said: "Before she was basically a timebomb - we never knew how long it would take to go off, we never knew how long we actually had with her. "Since having the op she's now had her life expectancy increased to that of a normal child." Since the surgery there have been early signs of sensation returning to her legs, which means it may be possible for Rosie to one day walk with prosthetic legs.

_64545437_rosie_before.jpg

Rosie was born missing five bones in her lower spine, meaning her internal organs were becoming crushed by her upper body

Her mum Mandy said: "Rosie is such a strong character. You give her the equipment to use and she'll do it, whether it's sticks or artificial legs or her hands - she'll make a way of walking. "All she has ever wanted to do is be like her sister. All she's wanted to do is ride her bike like her sister, run like her sister." Rosie's parents said she now had more confidence. An operation of this scale has never been attempted in Europe before. The only similar procedure took place 10 years ago in New Zealand.

Mr Guirish Solanki, one of the consultant neurosurgeons who operated on Rosie, said: "We are delighted with the results of this operation. "This is only the second time in the world that a surgical team has attempted to fix the thoracic spine to the hip side bones for a condition as rare as Rosie's. "This case was very complicated as normally children with this condition do not have a working spinal cord or nerves but Rosie did. So in carrying out this procedure we had to be extremely careful not to damage her nerves."

BBC News - Pioneering surgery repairs girl's spine with leg bone
 
Wonder if it'll work with Alzheimer's patients?...

Iron Supplements Reduce Cognitive and Behavioral Problems in Small Babies
December 13, 2012 - Underweight babies born deficient in iron are at risk of developing cognitive and behavioral problems, according to experts. Now, researchers have discovered that supplementing those babies' diets with iron prevents developmental problems in more than one-third of the children.
Magnus Domellof, head of pediatrics at Umea University in Sweden, says low birth-weight babies, weighing from 2,000 to 2,500 grams, look normal, but about 30 percent are iron-deficient at six months, and 10 percent develop a condition called iron-deficient anemia. As these children get older, Domellof says iron deficiency can lead to behavioral problems, including attention problems, anxiety and depression, compared to babies treated with iron supplements. Domellof’s team studied a group of 285 newborns, and gave the borderline low-weight babies iron drops daily for six months. Another group of 90 infants in a placebo group in the study received drops of sugar water that contained no iron.

When researchers followed up with the children three years later, they found only 3 percent of the subjects in the treated group displayed behavioral and cognitive problems, compared to 13 percent among those in the untreated placebo group. Iron deficiency did not appear to affect the children’s IQ scores. Although it was a small study, Domellof says his research is the first to show a direct link between iron deficiency and development-related attention and emotional problems in low birth-weight babies. Domellof says these babies are typically ignored because they look relatively normal at birth. “They are about 5 percent of all infants in the U.S. They are quite often neglected in studies, even though the few studies that have been performed actually show that these are at increased risk for behavioral problems, school problems, like that,” Domellof said.

Domellof notes that even if a breast-feeding mother is taking iron supplements, that iron does not transfer to her child through her breast milk. Iron-deficient children must take iron supplements directly with their food. Domellof says he intends to revisit the children in his study in a few years to look at their IQ scores. “Actually what we are doing is following up these children at seven years of age to see if we can find any subtle differences in intelligence,” Domellof said.

According to the World Health Organization, iron deficiency -- a leading cause of anemia -- is the most common micronutrient disorder in both developing and developed countries. An estimated two billion people suffer from anemia, and 40 percent of preschool-children are believed to be anemic, while low iron reserves contribute to one-fifth of maternal deaths. The article on the role iron supplements can play in preventing development problems in small babies is published in the journal Pediatrics.

Iron Supplements Reduce Cognitive and Behavioral Problems in Small Babies
 
New insight into Down's syndrome through brain cells grown from skin cells...
:cool:
Brain cells give insight into Down's syndrome
27 May 2013 - Brain cells have been grown from skin cells of adults with Down's syndrome in research that could shed new light on the condition.
US scientists found a reduction in connections among the brain cells and possible faults in genes that protect the body from aging. The research in the Proceedings of the National Academy of Sciences gives an insight into early brain development. Down's syndrome results from an extra copy of one chromosome. This generally causes some level of learning disability and a range of distinctive physical features. A team led by Anita Bhattacharyya, a neuroscientist at the Waisman Center at the University of Wisconsin-Madison, grew brain cells from skin cells of two individuals with Down's syndrome.

This involved reprogramming skin cells to transform them into a type of stem cell that could be turned into any cell in the body. Brain cells were then grown in the lab, providing a way to look at early brain development in Down's syndrome. One significant finding was a reduction in connections among the neurons, said Dr Bhattacharyya. "They communicate less, are quieter. This is new, but it fits with what little we know about the Down syndrome brain." Brain cells communicate through connections known as synapses. The brain cells in Down's syndrome individuals had only about 60% of the usual number of synapses and synaptic activity. "This is enough to make a difference," added Dr Bhattacharyya. "Even if they recovered these synapses later on, you have missed this critical window of time during early development."

The researchers looked at genes that were affected in the stem cells and neurons from two individuals with Down's syndrome. They found that genes on the extra chromosome, chromosome 21, were increased greatly, particularly genes that responded to damage from free radicals, which may play a role in ageing. This could explain why people with Down's syndrome appear to age quickly, although this remains to be tested, said the University of Wisconsin-Madison team.

Commenting on the study, Carol Boys, chief executive of the UK Down's Syndrome Association, said it was interesting work from an established, well-known team. "It seems to be another step forward, giving us insight into the effects of having three copies of chromosome 21," she said. "We are learning more all the time about the mechanisms that cause certain aspects of the condition Down's syndrome and this may ultimately result in the development of therapies for treatment."

BBC News - Brain cells give insight into Down's syndrome
 
A painless disorder...
:confused:
Congenital analgesia: The agony of feeling no pain
16 July 2012 - Steven Pete and his brother were born with the rare genetic disorder congenital analgesia. They grew up - in Washington state, US - with a sense of touch but, as he explains in his own words, without ever feeling pain.
It first became apparent to my parents that something was wrong when I was four or five months old. I began chewing on my tongue while teething. They took me to a paediatrician where I underwent a series of tests. At first they put a cigarette lighter underneath my foot and waited for my skin to blister. Once they saw that I had no response to that then they began running needles up and down my spine. And since I had no response to either of those tests they came to the conclusion that I had what I have - congenital analgesia. By which point, I had chewed off about a quarter of my tongue through teething.

We grew up on a farm. My mum and dad tried to be protective without stifling my brother and me. But when you're out in the country, especially if you're a boy, you're going to go out and explore and get in a little mischief. So during my early childhood I was absent from school a lot due to injury and illness. There was one time, at the roller-skating rink. I can't recall all of the details, but I know that I broke my leg. People were pointing at me because my pants were just covered in blood from where the bone came out. After that, I wasn't allowed to roller skate until I was much older.

When I was five or six years old, I was taken away from my home by child protective services. Someone had reported my parents for child abuse. I was in the state's care for, I believe, two months. And during that time I broke my leg before they finally realised that my parents and the paediatrician were telling the truth about my condition. At school, a lot of children would have questions about my condition. They would ask: "Why do you have a cast on?" Most of the time I was in a cast, until I was around 11 or 12. I was involved in fights quite frequently. Whenever a new kid came to school, the children would try to get that person to come and pick a fight me, as a kind of introduction to the school. They would say: "If you can't feel pain, you will once I'm done with you."

Nowadays, I am not a particularly reckless person. I believe I'm actually more vigilant than most people because I know that if I were to injure myself I wouldn't know how severe it would be. Internal injuries are the ones I fear the most. Appendicitis is what really scares me. Usually whenever I have any type of stomach issues or a fever I go to the hospital just to get it checked out. The last time I had a broken bone, my wife actually noticed before I did. My foot was swollen, black and blue, so I went to the doctor and had an X-ray and they told me that I had broken two of my toes and they wanted to put a cast on it. I had to go to work the next day. If had a cast on I wasn't going to be able to work for quite some time so I just told them I'd take care of myself. I went home and took some duct tape, taped it up, put my boots on and went to work that next morning.

More BBC News - Congenital analgesia: The agony of feeling no pain

Thank your lucky stars you weren't diagnosed in the womb.
 
A more accurate test for Down's syndrome...
:cool:
Early Down's test 'more sensitive'
7 June 2013 > A more accurate test for Down's syndrome which can also be given earlier in pregnancy than current checks has been developed, say experts.
A study of 1,000 pregnancies found the test of foetal DNA in maternal blood can show a baby is "almost certainly" affected or unaffected by Down's. The King's College London team behind it said it could help women decide if they needed further, invasive tests. The Down's Syndrome Association said the new test was not "imminent". Around 750 babies are born with Down's syndrome each year in the UK. The condition is caused by the presence of an extra copy of chromosome 21, which occurs by chance.

'Nearly diagnostic'

Women are currently tested between weeks 11 and 13 of pregnancy. They have an ultrasound, during which a pocket of fluid at the back of a baby's neck - the nuchal translucency - is measured. Babies with Down's syndrome tend to have more fluid than normal. Women also have a blood test to check for abnormal levels of certain proteins and hormones. They are then given an estimation of the chances of their child having Down's - which also takes their age into account - such as one in 150 or one in 700.

Each of the three elements is only an indication. But based on the result, those with a higher estimated risk can have one of two invasive and potentially risky tests. Chorionic villus sampling (CVS) involves testing a small sample of the placenta, while an amniocentesis tests the amniotic fluid around the baby. Both tests carry a one in 100 risk of miscarriage. Prof Kypros Nicolaides, who is leading the research and also developed the nuchal fold test, says the foetal DNA (cfDNA) test is much more definitive. The test shows there is either more than a 99% chance, or less than one in 10,000 that their baby has Down's syndrome.

The research showing it is more sensitive, and less likely to offer a false-positive result, is published in Ultrasound in Obstetrics and Gynaecology. Prof Nicolaides said: "This test is nearly diagnostic. It tells you almost certainly your baby has Down's or almost certainly it does not. "From a woman's perspective, that is a much more clear message about what to do next." Between 3% and 5% of pregnant women currently undergo invasive testing. The foetal DNA test has seen a rate of less than 0.5%.

'Lip-service'
 
Down's Syndrome Breakthrough Silences Extra Chromosome...
:cool:
Down syndrome's extra chromosome silenced in lab cells
July 18, 2013 > Scientists silenced the extra copy of a chromosome that causes Down syndrome in laboratory stem cells, offering the first evidence that it may be possible to correct the genes responsible for the disorder.
The findings, published Wednesday in the journal Nature, offer new cell models for developing potential treatments, researchers said. The models, aided by gene-manipulating technology from Sangamo Biosciences Inc., may help researchers discover drug targets for other ill health effects that come with the syndrome, including heart disease, hearing difficulties, and weakened muscles. Down syndrome slows physical and intellectual development. About 6,000 babies are born every year with the condition, which is caused by an extra copy of chromosome 21, according to the U.S. Centers for Disease Control and Prevention. While some genetic disorders have been easier to study because a single gene drives them, Down syndrome is more complex, said Robert Nussbaum, chief of genomic medicine at the University of California, San Francisco. "It's a technical tour-de-force," Nussbaum said of the research, in a telephone interview. "We don't really understand why the extra copy of chromosome 21 causes the problems it does. So this might allow us to have a thorough description of what goes wrong." Nussbaum wasn't involved in the study.

While the findings aren't a cure for Down syndrome, they make what was once a mysterious disorder much easier to study, Nussbaum said. In Wednesday's paper, researchers led by Jeanne Lawrence, a professor of the department of cell and developmental biology at the University of Massachusetts Medical School, used a gene called Xist. The gene creates a regulating piece of RNA that ordinarily quiets the second X chromosome in women. In women, the extra RNA makes copies that coat the whole second X chromosome, preventing it from producing proteins. The scientists wondered if this quieting effect could be used specifically to silence the third copy of chromosome 21. The scientists used skin cells from a Down syndrome patient that had been tricked into reverting into stem cells that, like embryonic ones, can grow into any type of tissue. Then they inserted a copy of Xist into the extra chromosome using technology from Richmond, California-based Sangamo.

Once inserted into the stem cells, scientists switched on Xist using the antibiotic tetracycline, setting off a process that effectively silenced the extra chromosome, Lawrence said. When the chromosome had been silenced, the cells grew better in the culture, Lawrence said. What's more, they saw an increased rate of formation of cells that are precursors to neurons. The most immediate application for the discovery is to learn about how the extra chromosome affects the development of cells, said Lawrence. "We do hope that over the longer term, the idea of chromosome therapy could be applied to some aspects of the disease," she said. That's more than a decade away, she said. Because the technique wouldn't work in all the cells of the body, gene therapy based on this work could only be used for targeted effects, such as lowering the risk of blood cancers. Even a gene therapy for Down syndrome wouldn't necessarily be a cure, she said.

Physical issues that accompany Down syndrome include heart defects, stomach trouble, hearing difficulties and a higher likelihood of childhood leukemia. Alzheimer's disease is also very common among patients with the disorder. About 80 percent of people with Down syndrome acquire the dementia, due to the extra copy of a gene that boosts the formation of characteristics of Alzheimer's plaques in the brain. "Down syndrome is underfunded," Lawrence said. "We're hoping what we've done here will accelerate multiple avenues of research, and maybe give more hope to the community."

Philip Gregory, the chief scientific officer of Sangamo, said the company plans to continue working with Lawrence's group. He declined to say whether Sangamo would have any special rights over discoveries made using the technique. While women who are 35 and older have a higher risk of giving birth to babies with Down syndrome, about 80 percent of babies with the disorder are born to women who are younger than that, according to the CDC. The error that causes Down syndrome occurs when either the sperm or egg is formed by the parents, so that the baby ends up with 47, rather than 46, chromosomes in every cell of the body. Why these errors happen isn't known. The average life expectancy of a person with Down syndrome is 55 years, according to the National Association for Down Syndrome, an advocacy organization, though some people live longer.

Down syndrome's extra chromosome silenced in lab cells » Community News Network » GloucesterTimes.com, Gloucester, MA
 
Beauty is in the eye of the beholder...
:eusa_clap:
Children With Down Syndrome: ‘They Are Beautiful Human Beings’
May 9, 2014 – When asked about the 90% abortion rate for Down Syndrome babies, Kyra Phillips, a six-time Emmy Award winning CNN reporter, while holding a Down Syndrome child in her arms, said that when “you meet a child with Down Syndrome, you realize their potential, you realize how smart they are,” and added, “they are beautiful human beings.”
Phillips made her remarks on Wednesday at the Global Down Syndrome Foundation 2014 Gala in Washington, D.C. Phillips is a Global Ambassador for the foundation. At the event, CNSNews.com asked Phillips, “What do you think of the statistic that nine out of ten babies diagnosed with Down Syndrome are aborted?”

10051162.jpg

Eric White, who has Down Syndrome, is an altar server at a Catholic Church in Seekonk, Mass.

Phillips said, “Oh, you know what? Here’s what I say to that, is that if you meet a child with Down Syndrome you realize their potential, you realize how smart they are -- but look at Keegan here -- how loving they are, how energetic, inspiring they are.” “They are beautiful human beings and that’s why I’m here tonight,” Phillips said. Seven-year-old Keegan, who has Down Syndrome, was one of the models for the gala. Phillips also said she was at the event to call for “more money for research and awareness because constantly it’s being cut, and we just need more voices, you know, politically and in the field of journalism.”

Kyra Phillips is a correspondent for the CNN investigative and documentary units and has been with the cable news company since 1999. In addition to the six Emmy Awards she won for her journalism over the years, Phillips was named Reporter of the Year in 1997 by the Associated Press. In 2013, Phillips was honored with the Quincy Jones Advocacy Award by the Global Down Syndrome Foundation. The high rate of abortion after a diagnosis of Down Syndrome was reported as early as 2007 in the New York Times and has been documented by several different studies. “About 90 percent of pregnant women who are given a Down syndrome diagnosis have chosen to have an abortion,” reported The Times.

37282.jpg

In 1972, a year before the Supreme Court's decision to legalize abortion, virtually every child with trisomy 21 or Down Syndrome, was born.

In addition, a 1999 study by the Psychology and Genetics Research Group at King's College in London concluded that, following a prenatal diagnosis of Down Syndrome, 92% of women chose to have an abortion. Also, a 1998 study by Wayne State University examined 145 cases of pregnancy in which Down Syndrome was diagnosed and found that 86.9% of women chose to terminate their pregnancies. Furthermore, as CNSNews.com reported in 2008, “with the widespread availability of pre-natal genetic testing, as many as 90 percent of women whose babies were pre-natally diagnosed with the genetic condition chose to abort the child.” The Global Down Syndrome Foundation’s “Be Beautiful, Be Yourself D.C. Gala” was held to raise awareness and funds for the many Americans living with Down Syndrome.

MORE
 
Selective abortion ban called for in cases of Down Syndrome...
:eusa_clap:
Report Calls for Ban on Down Syndrome & Other Disability-Selective Abortions
July 8, 2014 -- The Charlotte Lozier Institute has published a new report that calls for a ban on disability-selective abortions and recommends changes to improve the lives of those born with Down syndrome.
Down syndrome is a chromosomal condition which typically arises after an error in cell division, resulting in an extra copy of the 21st chromosome. This genetic condition often causes physical and mental disabilities. The report, which was released on July 1, was written by Mark Bradford, president of the Jérôme Lejeune Foundation, who looks at the explanation of prenatal testing results, calling the current system “biased, outdated, narrow, inaccurate, and clinical” and rooted in a “profession which prefers termination in the case of disability.”

In Improving Joyful Lives: Society’s Response to Difference and Disability, Bradford details multiple steps that can be taken to protect Down syndrome individuals, including enforcement of the Kennedy-Brownback Act, which he says would improve the prenatal testing system. The Kennedy-Brownback Prenatally and Postnatally Diagnosed Conditions Awareness Act was signed by President George W. Bush in 2008, but it has not been funded due to disputes among members of Congress “over how the topic of abortion would be handled in the materials accepted for distribution.”

However, the Lozier report says enforcement of this legislation is vital for the protection of the disabled, as it would “increase the provision of scientifically sound information and support services to patients receiving a positive test diagnosis for Down syndrome or other prenatally and postnatally diagnosed conditions.” If this is not achievable at the federal level, the report points to state-level legislation as a second best option. State lawmakers are already beginning to address prenatal discrimination with legislation such as South Dakota’s H.B. 1240, which would prohibit abortions based on disability or sex.

Bradford notes that the Americans with Disabilities Act (ADA) was passed in order to prevent discrimination against disabled individuals. However, after comparing various studies, he estimates that somewhere between 67 percent and 92 percent of Down syndrome pregnancies result in termination. ‘Wrongful birth’ lawsuits are also harmful, according to Bradford, as they are based on the underlying principle that death is preferable to living with a disability.

Progress in Down syndrome treatment could influence a fearful parent not to abort, but a lack of funding is a major impediments to such progress, he says. The National Institute of Health (NIH) spent $22 million on Down syndrome research in 2010, but plans to spend only $19 million in 2014 and 2015, even though there are more than 400,00 individuals with Down syndrome in the United States. Bradford compares this to the NIH’s spending for research on cystic fibrosis, which will be an estimated $80 million in 2014 and 2015, although only about 30,000 Americans have this genetic disease.

Bradford quotes a 2007 Dutch study that claims:
 
The last time I had a broken bone, my wife actually noticed before I did. My foot was swollen, black and blue, so I went to the doctor and had an X-ray and they told me that I had broken two of my toes and they wanted to put a cast on it. I had to go to work the next day. If had a cast on I wasn't going to be able to work for quite some time so I just told them I'd take care of myself. I went home and took some duct tape, taped it up, put my boots on and went to work that next morning.

Having just fractured three foot bones and my fibula (when I was knocked down on our Caribbean trip), this just gives me the shivers. I wanna tell ha, it hurts like hell and, though I've heard of this before, I can't imagine not feeling that pain.
 
Selective abortion ban called for in cases of Down Syndrome...
:eusa_clap:
Report Calls for Ban on Down Syndrome & Other Disability-Selective Abortions
July 8, 2014 -- The Charlotte Lozier Institute has published a new report that calls for a ban on disability-selective abortions and recommends changes to improve the lives of those born with Down syndrome.
Down syndrome is a chromosomal condition which typically arises after an error in cell division, resulting in an extra copy of the 21st chromosome. This genetic condition often causes physical and mental disabilities. The report, which was released on July 1, was written by Mark Bradford, president of the Jérôme Lejeune Foundation, who looks at the explanation of prenatal testing results, calling the current system “biased, outdated, narrow, inaccurate, and clinical” and rooted in a “profession which prefers termination in the case of disability.”

In Improving Joyful Lives: Society’s Response to Difference and Disability, Bradford details multiple steps that can be taken to protect Down syndrome individuals, including enforcement of the Kennedy-Brownback Act, which he says would improve the prenatal testing system. The Kennedy-Brownback Prenatally and Postnatally Diagnosed Conditions Awareness Act was signed by President George W. Bush in 2008, but it has not been funded due to disputes among members of Congress “over how the topic of abortion would be handled in the materials accepted for distribution.”

However, the Lozier report says enforcement of this legislation is vital for the protection of the disabled, as it would “increase the provision of scientifically sound information and support services to patients receiving a positive test diagnosis for Down syndrome or other prenatally and postnatally diagnosed conditions.” If this is not achievable at the federal level, the report points to state-level legislation as a second best option. State lawmakers are already beginning to address prenatal discrimination with legislation such as South Dakota’s H.B. 1240, which would prohibit abortions based on disability or sex.

Bradford notes that the Americans with Disabilities Act (ADA) was passed in order to prevent discrimination against disabled individuals. However, after comparing various studies, he estimates that somewhere between 67 percent and 92 percent of Down syndrome pregnancies result in termination. ‘Wrongful birth’ lawsuits are also harmful, according to Bradford, as they are based on the underlying principle that death is preferable to living with a disability.

Progress in Down syndrome treatment could influence a fearful parent not to abort, but a lack of funding is a major impediments to such progress, he says. The National Institute of Health (NIH) spent $22 million on Down syndrome research in 2010, but plans to spend only $19 million in 2014 and 2015, even though there are more than 400,00 individuals with Down syndrome in the United States. Bradford compares this to the NIH’s spending for research on cystic fibrosis, which will be an estimated $80 million in 2014 and 2015, although only about 30,000 Americans have this genetic disease.

Bradford quotes a 2007 Dutch study that claims:

For most people, abortion is a horribly painful decision to make. I would suppose those who abort because of sex would not feel that terrible trauma but to have to look at what your dearest child would endure with a life of severe handicap is just unthinkable.

Whatever else we do, we MUST keep government out of this decision.
 
Granny says, "Dat's right - all ye mommas-to-be get yer blood sugar rate checked so's ya have a healthy baby...

Blood sugar rate during pregnancy linked to baby's heart defect risk
Oct. 12, 2015 - While the levels of increased glucose or insulin were higher, they did not need to be high enough to consider the mothers diabetic.
Pregnant women with elevated blood sugar levels have an increased risk of giving birth to babies with congenital heart defects, researchers found in a new study. During pregnancy, metabolic changes in women's bodies make glucose more available to the fetus than the mother, which can result in the development of gestational diabetes. Even when the mother's blood sugar levels are below those considered diabetic, however, the risk for defects increases, according to the study.

"Diabetes is the tail end of a spectrum of metabolic abnormalities," said Dr. James Priest, a researcher in pediatric cardiology at the Stanford University School of Medicine, in a press release. "We already knew that women with diabetes were at significantly increased risk for having children with congenital heart disease. What we now know, thanks to this new research, is that women who have elevated glucose values during pregnancy that don't meet our diagnostic criteria for diabetes also face an increased risk."

Blood-sugar-rate-during-pregnancy-linked-to-babys-heart-defect-risk.jpg

Researchers said the new study sheds light on the development of heart defects in fetuses during pregnancy.​

Researchers analyzed blood samples taken from 277 women during their second trimester of pregnancy to compare the relationship between blood glucose and congenital heart defect prevalence in their fetuses. The women in the study were broken down into three groups: 180 of their fetuses were normal and healthy; 55 had tetralogy of Fallot, characterized by structural issues in the heart and blood vessels; and 42 had dextrotransposition of the great arteries, a reversal of positions of the two main arteries leading from the heart, preventing oxygenated blood from the lungs from circulating to the body.

The women's blood was analyzed for levels of glucose and insulin, revealing that women whose fetuses had tetralogy of Fallot had higher glucose levels than those whose fetuses were healthy. In fetuses with dextrotransposition of the great arteries, their mothers had higher levels of insulin, but not of blood glucose. "There are several other kinds of structural birth defects, in addition to heart defects, that have been linked with overt diabetes," said Dr. Gary Shaw, a professor of pediatrics at Stanford. "This new work will motivate us to ask if underlying associations with moderately increased glucose levels may be similarly implicated in risks of some of these other birth defects." The study is published in JAMA Pediatrics.

Blood sugar rate during pregnancy linked to baby's heart defect risk
 
More babies being born with gastroschisis...

Babies born with organs outside their bodies up by a third
Jan. 22, 2016 - Researchers are unsure why cases of the rare condition have increased in frequency so much during the last two decades.
The number of babies born with organs protruding from their bodies has risen significantly in the last 20 years, and most dramatically in non-Hispanic black mothers under 20, but researchers at the Centers for Disease Control and Prevention say they are not sure of the cause. Instances of gastroschisis -- a birth defect in the abdominal wall causing intestines or other organs to protrude from the body -- doubled in the United States between 1995 and 2012, according to a new CDC report.

About 2,000 babies are born with the defect each year. The cause of the defect is unknown, but researchers in the 1970s linked young maternal age with gastroschisis. "It concerns us that we don't know why more babies are being born with this serious birth defect," said Dr. Coleen Boyle, director of the National Center on Birth Defects and Developmental Disabilities, in a press release. "Public health research is urgently needed to figure out the cause and why certain women are at higher risk of having a baby born with gastroschisis."

Babies-born-with-organs-outside-their-bodies-up-by-a-third.jpg

About 2,000 babies are born per year with the defect. Researchers said they are unsure of its cause​

According to the CDC's Morbidity and Mortality Weekly Report, researchers at the agency requested birth data for the years 2006 through 2012 from 14 states that had been used to analyze rates of the defect from 1995 to 2005 in a previous report. When researchers pooled data from 1995 to 2012, it covered about 29 percent of births in the United States for those years. Overall, the number of cases increased during the 20-year period by 30 percent, from 3.6 per 10,000 births between 1995 and 2005 to 4.9 per 10,000 births between 2006 and 2012. All categories of age and race or ethnicity saw increases in incidence, ranging from a 68 percent increase in white mothers under age 20 to 263 percent in black mothers under 20.

The researchers said the increase is not related to births for teen mothers because, during the same 20 years, the number of teen mothers decreased. "Gastroschisis is unusual among birth defects in that it disproportionately affects younger mothers, a vulnerable population," reseachers wrote in the report. "The continued increase in age-adjusted prevalence and the pace of the increase suggests that unidentified risk factors might be contributing. Identification of these risk factors is needed to inform public health interventions and reduce prevalence."

Babies born with organs outside their bodies up by a third
 
Congenital Ebstein's anomaly...

Novel oxygen treatment saves life of baby before, after birth
Feb. 18, 2016 - The baby's mother was treated with oxygen before he was born, which may have allowed treatment after birth to be more effective, doctors say.
Using a novel oxygen treatment with his mother, doctors helped a fetus survive until birth and then saved his life with immediate surgery to repair a heart defect that may have killed him before he was born. Doctors at Lucile Packard Children's Hospital Stanford started planning for Liam Luna's congenital Ebstein's anomaly, which they said gave him a 90 percent chance of dying either before or just after birth if nothing was done.

Congenital Ebstein's anomaly is a malformed heart valve that does not close properly and allows blood to flow back from the lower to the upper chamber of the heart. "Once you see the type of leakage Liam had, it's usually a progressive process," said Dr. Theresa Tacy, an associate professor of pediatrics at the School of Medicine at Stanford University, in a press release. "It just gets worse: The fetus eventually develops heart failure and dies." Tacy had treated two pregnant mothers and fetuses with the condition, using the drug indomethacin to constrict a blood vessel near the babies' hearts to cause more blood to flow to their lungs -- which helped both babies survive until birth, however they died soon after.

Novel-oxygen-treatment-saves-life-of-baby-before-after-birth.jpg

Linda Luna holds her son, Liam, who was born at Lucile Packard Children’s Hospital Stanford with the rare heart defect congenital Ebstein’s anomaly. Doctors used a novel oxygen treatment with Linda to keep Liam alive in utero, and were prepared for the series of surgeries that would be necessary to save his life after he was born.​

After the defect was found, Tacy tried a new approach for Liam's mother, Linda, giving her high-flow oxygen for 12 hours per day through a face mask beginning when she was 33 weeks pregnant. The idea was the same -- to relax blood vessels so they could carry more blood and oxygen to Liam's lungs -- though in this case the oxygen came from his mother rather than by using a drug. Linda's liver function declined during the following few weeks after the oxygen treatment was started, prompting doctors to monitor her in the hospital around the clock. She started having contractions about a month before Liam was due, with doctors opting to deliver him by C-section because of an unstable heart rate. When he was born, Liam was immediately put on an extracorporeal membrane oxygenation machine to deliver oxygen to his blood and rushed him to surgery to repair a blood vessel near his heart that would help blood flow in the right direction.

Doctors say they had to balance the risks of keeping Liam on the ECMO machine, which requires blood thinners that put a newborn at risk of bleeding and stroke, as well the machinery itself exposing him to air bubbles and tiny blood clots that can increase the risk for stroke. After two weeks on the machine, once he could breathe on his own, doctors repaired the rest of the defect, correcting his heart valves and reducing the size of the right atrium. "This is just one case, but it's so exciting to move forward and feel a glimmer of what we think is the right path for treating other babies with this devastating heart defect," Tacy said.

Novel oxygen treatment saves life of baby before, after birth
 
Yeah my son will be very good at sports, kid could drop kick a ball at three. Now If he would just pick a dominate hand. Lol
You should encourage him being ambidextrous it's a rare and useful talent
 

New Topics

Forum List

Back
Top