Thread: Congenital conditions

A painless disorder...

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 http://www.bbc.co.uk/news/magazine-18713585

Amazing spine surgery...

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.


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."

http://www.bbc.co.uk/news/health-20426413

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New insight into Down's syndrome through brain cells grown from skin cells...

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."

http://www.bbc.co.uk/news/health-22655578

A more accurate test for Down's syndrome...

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'