Wednesday, April 20, 2011

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Jono's dilemma

Laura and Jono

Jono and Laura's genetic dilemma

For Jono Lancaster, who has Treacher Collins syndrome, the decision about whether to have a baby or not is agonising.

At the age of 26, Jono is happy with how he looks, but the genetic disorder that affected the way his facial bones developed in the womb has caused him years of anguish.

His condition means he has no cheekbones - so his eyes droop downwards - and he has problems with his hearing, so has a bone-anchored hearing aid.

It has resulted in years of bullying, several operations and numerous hospital visits. It also led his parents to give him up for adoption 36 hours after he was born.

But perhaps the most vital factor for Jono and his long-term girlfriend, 20-year-old Laura Richardson, is that it is also hereditary, so any child Jono fathers naturally has a 50% chance of having Treacher Collins.

Find out moreSo What If My Baby Is Born Like Me? will be broadcast on BBC Three at 2100 BST on Tuesday 19 April 2011Or watch it later on iPlayer 'I hated my face in the mirror'

Jono says until he met Laura, he always assumed he would adopt.

"It worked really well for me, and giving a child a second chance, I think that's brilliant.

"But Laura thinks she will have those instincts of really wanting to carry a child, and she's worried that she might find it hard to look after someone else's child - or that the child will just want to find its natural parents.

"Plus she really wants our child to be 'our' child. And I really want to look after her when she is pregnant, for her to be on the sofa, or for me to run downstairs at 2am when she fancies a pickle."

“The big debate in my head is how can I knowingly put my own child through potential suffering”

He says ruling out children is not an option.

"I've always dreamed of being a daddy. I crave father and son moments - my adoptive mum was absolutely amazing but I never had a father figure in my life, and that's something I really, really want. I want to do the school run, take my child to dance, gymnastics or football - whatever they want."

But for the couple - and particularly Jono - the thought of having a child naturally opens a minefield of morals, emotions and self-questioning.

"Knowing that there's a good chance of passing your condition on to your child. It scares me and I question whether it's the right thing to do.

"The big debate in my head is how can I knowingly put my own child through potential suffering," he says.

To add to their predicament, Treacher Collins syndrome - which is thought to affect up to one in 10,000 people in the UK - varies in severity, but there is no way of predicting how severely a child will be affected.

Jono Lancaster and Laura RichardsonJono and Laura have been together for four years

While some sufferers have problems with hearing and facial features, others can be born unable to breathe.

"I've met a girl that needed a tracheotomy and 24-hour care, and another boy had to have his jaw extracted - which means putting a brace on every morning and and twisting it, which breaks the jaw - how can I knowingly put a child through that? I'd feel so guilty."

But Jono says if they decide to have a child naturally, "abortion is not an option" for him.

"I want to make the right decision. Right from the very start. So if I decide to have a child naturally, we go through the whole thing. Not just give up on it halfway through."

Because doctors have been able to locate Jono's abnormal gene, the final option that Jono and Laura are considering is IVF with pre-implantation genetic diagnosis (PGD).

What is Treacher Collins syndrome?A genetic disorder also known as Treacher Collins-Franceschetti syndrome or mandibulofacial dysostosisFacial bones do not develop as they should in the womb and babies are born with characteristic facial featuresSufferers often have problems with hearing, breathing and eatingMost children pass developmental milestones, such as starting to walk and talk, at the usual time and are of normal intelligenceMany need specialised hearing aids or speech therapyAbout one in every 10,000 babies in the UK is born with Treacher Collins syndrome

Source: BBC Health

Treacher Collins syndrome

The procedure is controversial - both ethically and from a religious point of view - because it involves testing embryos for genetic disorders before implanting an unaffected one in the womb.

Some disabled groups also argue it harms their chances of equality and understanding. Ian Macrae, editor of the magazine and website Disability Now, says he would never condemn an individual for making their own choice, but he had significant concerns about screening embryos.

"It re-enforces the stereotypical notion that disability per se is a bad thing that should be excluded and that disabled lives are intrinsically less valuable.

"Also, if you make the comparison with ethnicity, which I know is not always helpful, and you want to start doing this to people of colour, then there would be, quite rightly, an outcry. For me, disabled people are part of the rich mix of a diverse society."

We want to be working towards a society that can accommodate the range of needs that people have, rather than getting rid of the people, he says.

Macrae himself has a congenital cataracts condition that could have been passed to his children but he says he would not have agreed to screening, had screening been available.

For Jono, it is the moral issue that is particularly poignant.

"When I first heard of IVF PGD I had this kind of moral dilemma going on in my head, that if my parents had chosen to do it, I wouldn't be here today.

The wider issues

There are two main issues. The first is whether it's right to destroy an embryo or foetus with a condition that isn't life threatening to have another child, or whether it is permissible to destroy human life in order to have children.

Since we allow 100,000 abortions every year in the UK I don't think we place a very high value on human life, so I don't think we can have strong objections, and there shouldn't be laws to prevent people from doing so.

The second issue is what kind of society do we want to live in?

By making these sorts of choices are we discriminating about people and expressing negative attitudes because we are saying this condition isn't worthy of life?

Julian Savulescu, professor of practical ethics at the University of Oxford

"Then there are all these other amazing people in the world with genetic disorders, I think the world is a better place because they are in it. I'd feel in some way like I'm insulting or disrespecting them, and that's what I'm struggling with."

He also feels guilty that Laura would bear the brunt of the procedure.

"She'd have to inject the hormones, have the eggs taken out - it puts her under so much pressure and that frustrates the life out of me because this is my condition."

Although Jono thinks having a child through IVF PGD is probably best option for their child, he says he is still goes through an "emotional rollercoaster" when he thinks about actually having to make a decision.

"I could argue with myself all day - there's an answer and an argument for everything."

Dr Christine Patch, a genetic counsellor at Guy's and St Thomas' hospital, says it is important for couples like Jono and Laura to understand the facts, talk through choices and make the decision that is right for them - taking into account their culture and personal beliefs.

"It's very hard for people with the condition themselves - they are the ones that know much better than anyone else how it is to live with it.

Jono LancasterJono thinks there is an argument for and against every option

"Many will be conflicted, they may quite rightly see themselves as being able to fulfil a normal valuable role in society, so thinking about not having a child the same as them is difficult for them emotionally and psychologically."

Jono agrees that understanding his options has been a huge step forward and will allow him to move on.

"Starting a family should be a romantic and exciting time - and hopefully by the time we are ready to have children, we'll be able to make our dream a reality."

This article is from the BBC News website. � British Broadcasting Corporation, The BBC is not responsible for the content of external internet sites.



Tuesday, April 19, 2011

101 Things to Do Instead of Smoking

As smokers, most of us thought we used cigarettes to control stress. In reality, smoking caused more anxiety than it dispelled, but we relied on our smoking habit to calm us down all the same.


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Mother's diet alters baby's DNA

Foetus in the wombCan a baby predict the environment it will be born into?
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A mother's diet during pregnancy can alter the DNA of her child and increase the risk of obesity, according to researchers.

The study, to be published in the journal Diabetes, showed eating a lot of carbohydrate changed bits of DNA.

It then showed children with these changes were fatter.

The British Heart Foundation said the results showed the need for better nutritional and lifestyle support for women.

It is thought that a developing baby tries to predict the environment it will be born into, taking cues from its mother and adjusting its DNA.

“What is surprising is that it explains a quarter of the difference in the fatness of children”

Professor Keith Godfrey University of Southampton

Studies in animals have shown that changes in diet can alter the function of genes - known as epigenetic change.

It is a growing field trying to understand how the environment interacts with genes.

In this study, the researchers took samples from the umbilical cord and looked for "epigenetic markers".

They showed that mothers with diets rich in carbohydrates, such as sugars, had children with these markers.

They then showed a strong link between those same markers and a child's obesity at ages six and nine.

Professor Keith Godfrey, who is from the University of Southampton and led the international study, told the BBC: "What is surprising is that it explains a quarter of the difference in the fatness of children six to nine years later."

The report says the effect was "considerably greater" than that of birth weight and did not depend on how thin or fat the mother was.

The changes were noticed in the RXRA gene. This makes a receptor for vitamin A, which is involved in the way cells process fat.

Professor Godfrey said: "It is both a fascinating and potentially important piece of research.

"All women who become pregnant get advice about diet, but it is not always high up the agenda of health professionals.

"The research suggests women should follow the advice as it may have a long term influence on the baby's health after it is born."

Professor Mark Hanson, of the British Heart Foundation, said: "This study provides compelling evidence that epigenetic changes, at least in part, explain the link between a poor start to life and later disease risk.

"It strengthens the case for all women of reproductive age having greater access to nutritional, education and lifestyle support to improve the health of the next generation, and to reduce the risk of the conditions such as diabetes and heart disease, which often follow obesity."

This article is from the BBC News website. � British Broadcasting Corporation, The BBC is not responsible for the content of external internet sites.