‘Food Is a Death Sentence to These Kids’

[elleng]

When Rachelle was born, her limbs flopped, she couldn’t suckle or cry and her heart and lungs were weak. The diagnosis was a rare chromosomal abnormality called Prader-­Willi syndrome, which causes low muscle tone and impairs signaling between the brain and the stomach. For several years, Rachelle would show no interest in eating, doctors told Rhoda; then she would crave food intensely for the rest of her life. No matter how much Rachelle ate, she would never feel full. To make matters worse, she would also have an especially slow metabolism, predisposing her to morbid obesity. Though people with the syndrome now routinely live into their 50s and 60s, their average life expectancy in the United States is 30; most die of obesity-related causes. Frighteningly, because no sensation of satiety tells them to stop eating or alerts their body to throw up, they can accidentally consume enough in a single binge to fatally rupture their stomach.

http://www.nytimes.com/2015/01/25/magazine/food-is-a-death-sentence-to-these-kids.html?hp&action=click&pgtype=Homepage&module=second-column-region&region=top-news&WT.nav=top-news&_r=0

[Chemisse]

1. This is fascinating.

[LeftishBrit]

2. A lot more research is needed on these serious genetic disorders

Prader-Willi is caused by abnormality or loss of some genes on chromosome 15. It has to be the chromosome 15 that comes from the father that is affected, for Prader-Willi to occur. If exactly the same abnormality affects the chromosome 15 that comes from the mother, then the child will have a completely different disorder, Angelman syndrome, which is less life-threatening, but causes more severe intellectual impairment. (A friend's daughter has Angelman syndrome, which is how I know all this.) It all shows how complicated the inheritance of genetic syndromes can be.

[rocktivity]

3. The son of actor Colin Farrell has Angelman's Syndrome

Last edited Wed Sep 23, 2015, 12:50 PM - Edit history (6)

It's a form of trisomy (three chromosomes where there should be two -- one from each parent) which has been so difficult to research because it tends to occur at the moment of conception, and it usually results in miscarriage.

There's a form of trisomy for each of our pair of chromosomes, Trisomy 21 (Down Syndrome) being the most common. Rick Santorum's daughter Bella has Trisomy 18. Full Trisomy 16 (affecting all the embryo's cells) is the cause of most first-semester miscarriages while those with mosaic Trisomy 16 (affected cells from one parent) have heart ailments and growth deficiencies.


rocktivity