Baby to be born free of breast cancer after embryo screening

Sarah-Kate Templeton, Health Editor

A woman has conceived Britain's first baby guaranteed to be free from hereditary breast cancer.

Doctors screened out from the woman's embryos an inherited gene that would have left the baby with a greater than 50% chance of developing the cancer.

The woman decided to have her embryos screened because her husband had tested positive for the gene and his sister, mother, grandmother and cousin have all had the cancer.

The couple produced 11 embryos, of which five were found to be free from the gene. Two of these were implanted in the woman's womb and she is now 14 weeks pregnant.

By screening out embryos carrying the gene, called BRCA-1, the couple, from London, will eliminate the hereditary disease from their lineage.

About 5% of the 44,000 cases of breast cancer diagnosed in Britain each year are estimated to be caused by the BRCA-1 and BRCA-2 genes, both of which can be detected in embryos.

Doctors say thousands of cases of breast cancer could be avoided by screening embryos using the technique called preimplantation diagnosis (PGD).

Many women who test positive for the gene have their breasts surgically removed to avoid the disease. Only one other woman - an Israeli mother-to-be - is thought to have become pregnant after undergoing the embryo screening.

The 27-year-old British mother, who asked not to be named, says that after seeing all her husband's female relatives suffer from breast cancer, she felt she had to take action to save their children from the same plight. Any daughter born with the gene would have had a 50% to 85% chance of developing breast cancer.

She said: "For the past three generations, every single woman in my husband's family has had breast cancer, as early as 27 and 29. We felt that, if there was a possibility of eliminating this for our children, then that was a route we had to go down.

"It has been successful for us which means we are eliminating the gene from our line.

"We had been through his sister being ill, so it was something we had seen first hand. I thought this was something I had to try because, if we had a daughter with the gene, and she was ill, I couldn't look her in the face and say I didn't try."

The woman and her 28-year-old husband had to go through IVF (in vitro fertilisation) even though they are fertile, in order to create embryos that could be screened.

Tests on the 11 embryos were conducted by removing just one cell when they were three days old. Six of the embryos carried the breast cancer gene. Two embryos that were free of the gene were then implanted, resulting in a single pregnancy.

The couple have also been able to freeze two healthy embryos for future use.

The woman said she felt a responsibility to put herself through the invasive IVF procedure. "The treatment I had to go through was nothing in comparison to what I have seen members of my husband's family go through."

In addition to breast cancer, women carrying the gene also have a higher risk of ovarian cancer and male carriers are at greater risk of developing prostate cancer.

The couple's doctor, Paul Serhal, medical director of the Assisted Conception Unit at University College London hospital, said the breakthrough gives parents the option of avoiding passing a high risk of breast cancer on to their children.

He said: "Women now have the option of having this treatment to avoid the potential guilty feeling of passing on this genetic abnormality to a child. This gives us the chance to eradicate this problem in families." Serhal added: "It may be devastating psychologically and emotionally for a young woman to have her breasts removed."

Serhal has treated other couples to create babies free from less well known cancer genes, including one that causes eye cancer and another that carries a high risk of bowel cancer.

Some critics say it is wrong to destroy embryos because there is only a chance women with the gene may develop breast cancer in adulthood. They argue that, increasingly, breast cancer can also be successfully treated.

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Mary Kaye Richter Speaks at Launch of Mexican Association of Ectodermal Dysplasias

NFED's executive director, Mary K. Richter, spoke at the launch of Mexican Association of Ectodermal Dysplasias "Mariana" (Asociacion Mexicana de Displasia Ectodermica) on April 30th in Toluca, Mexico. She wished the organization well and gave some advice to Karla  Carmona Prantl who founded the organization. She and her husband, Alejandro, have a daughter, Mariana, who is affected by hypohidrotic ectodermal dysplasia, and a son, Alejandro.
Mary Kaye said, "On behalf of more than 5,000 families in 70 countries, I want to congratulate Karla on this extraordinary day celebrating the creation of a support organization for families affected by ectodermal dysplasia syndromes throughout Mexico....the Asociacion Mexicana de Displasia Ectodeermica...My wish for Karla is the courage to struggle on when times are difficult, the wisdom to know what to do and when, the patience and understanding to know that this is not a daylong journey but one of years and the support, assistance and love from her family, friends and anyone who can help her in any way possible.  With all of that, success will be yours.........but more importantly individuals in Mexico affected by ectodermal dyplasia will live fuller, happier, healthier and more successful lives."

 

Andy @ NFED

Boy in the bubble can play in the park again

Jun 12 2008 by Abbie Wightwick, South Wales Echo

He couldn't even have a hug from his mum for fear of infection, but after a lifesaving bone marrow transplant at Newcastle General Hospital little Rhys Harris is on the mend. Abbie Wightwick finds the family is now making plans to return to Wales...

RHYS Harris spent two months in an airtight bubble in an attempt to save his life but now he's back playing rugby and tucking into his favourite meal of roast chicken after fighting a rare genetic disease.

The seven-year-old from Newbridge, Caerphilly, who could not even have a hug from his mum for fear of infection, has been cared for by doctors in Newcastle since last October.

Dad Kevin, 44, mum Dawn, 39, and brother Morgan, five, all moved north to be with him for a lifesaving bone marrow transplant.

Now doctors at Newcastle General Hospital say Rhys is on the mend at last and the family plans to return to Wales in the next couple of months.

Consultant Dr Mario Abinum said he would not know whether Rhys had been cured until further tests in the autumn, although it was "looking very positive".

"It's great news," Dr Abinum said.

"Rhys is great. He's doing OK and putting on weight. We can't say he's cured because it's only seven months since the transplant.

"We need to do more at 12 months. But so far everything is excellent."

This time last year Rhys was dying from the genetic disease Nemo, which attacked his immune system leaving him unable to fight infection.

Doctors at the University Hospital of Wales in Cardiff got in touch with Professor Andrew Kent in Newcastle who advised a bone marrow transplant.

A desperate hunt against the clock then began for a match. But even when a match was found in the USA, Kevin and Dawn were unable to celebrate.

Kevin wanted to pull out on the day the transplant was scheduled, fearing the risks which could also kill his son.

"You should be elated but as a parent you then have to ask whether you will put your child through it all," Kevin said. "We had to make the decision to sign a bit of paper that could have been Rhys' death warrant.

"Until the day of the transplant I was still going to pull out. Do you let your child die with dignity or let him go through chemotherapy? Chemotherapy is a horrible thing and so is isolation.

"We had a terrible week and then Professor Kent just told me there was no option. He sat me down and changed my mind.

"He is the only person who could change my mind. He is a wonderful man.

"Now we are out the other end. We have a life with Rhys now that was not with us last year.

"We have a future now that we were told we would never have this time last year. We can plan ahead.

"I can get home and get a job and Rhys can go to school."

In the meantime, Rhys, a pupil at Hollybush Primary in Cwmbran, is enjoying finding his feet in the world again, playing in the park and meeting other children.

During his two months in isolation, Rhys could not even be comforted with a cuddle from his mum because his immune system had been killed off by chemotherapy.

Before the bone marrow transplant pumped a new immune system into his body, any bug could have killed him.

His parents are still wary when people cough nearby, but they can take Rhys to kick his treasured rugby ball in the park again.

"He's able to interact with other children now. But until the tests in October, which will be a year since the transplant, we will be on edge a bit," Kevin said.

"We can't really say the 'c' word for cure yet but it's positive news and Rhys is home with us.

"Rhys plays rugby but is not able to go back to school yet. A tutor comes to the house twice a week. He's a normal seven-year-old boy and he needs challenges. We try to keep contact with his friends in Wales. He misses them.

"I try to go home every couple of months. It's very odd.

"We've made a life for ourselves here now. Morgan goes to school here and the other parents have been so supportive.

"We're looking forward to going back; it will also be hard. When you go through an experience like we have, the place you're in becomes very poignant. It's beautiful up here and the people are lovely."

Rhys was left profoundly deaf by meningitis when he was small, and Kevin was training to be an audiologist and studying for a degree when he fell ill with Nemo.

Now Kevin wants to take his life off hold.

He has been studying sign language and Spanish and wants to work for a charity.

"You have to do something else. I like nothing more than going for a run or out on my bike. I had to do something with my time when I stopped working.

"Rhys needed us to help pull through. The whole of Wales has helped pull him through too. The Cardiff Blues, Ospreys, the Dragons, the WRU and the whole Welsh rugby team spoiled him and made a fuss of him.

"They helped to make a little child happy and I think that helped him to keep strong.

"If it was not for people being like that I honestly don't think he would be here today. A smile is as good as medicine."

Kevin now wants to increase awareness about the bone marrow register and get more people to sign up as potential donors.

"At any one time 7,500 people in the UK need a bone marrow transplant. It's a transfusion not a transplant. We would get thousands more people immediately if they called it a transfusion. People get put off by the word transplant.

"The whole of Pontypridd Rugby Club are all on the register now.

"If someone went past a river and saw a child in there 99% would go in and help."

That is one reason why Kevin and Dawn have always kept good relations with the media. They hope the exposure may highlight the need for more donors.

Last week they were besieged by the world's media after someone wrongly reported Rhys had been "cured".

Dawn and Kevin admitted it all got a bit much.

"Dawn and I are very private people but we made a conscious decision to talk to the media to help find a bone marrow donor that matched," said Kevin.

"It's not easy to talk about what we've been through, especially for my wife.

"But we decided we had to do it. It was part of our mission to find a donor."

Dawn, like any mother, now wants what seemed an impossible dream a year ago.

"Hopefully, Rhys will have a long and happy life," she said.

Source

Website

04 June 2008
 
 
 
Finding NEMO's Happy Ending
 
 
 
A young boy has reputedly become the first child in the UK to be cured of a rare genetic illness.
 
 

Rhys Harris, 7, from Newbridge, south Wales, has survived treatment, which has given him a new immune system.

Rhys had to endure living in a 'plastic bubble' - which ensured he was kept in sterile isolation - for two months, meaning his parents couldn't touch him.

Rhys was diagnosed with an incurable genetic disease called NEMO which affects the immune system and other organs of the body, when he was three.

The disease, of which there have only been 40 reported cases since 2001, rendered his immune system deficient.

Experts at Newcastle General Hospital gave young Rhys only a one in three chance of survival.

However, when a bone marrow was found in the United States, Rhys underwent a life saving transplant - before which his own bone marrow was killed by chemotherapy.

Mario Abinun, Consultant Paediatric Immunologist at Newcastle General Hospital said that Rhys "has already gotten over a few hurdles and all the indicators and laboratory reports show he is doing fine".

Mr Abinun added that Rhys will not be given a clean bill of health until at least the autumn.

Rhys' father, Kevin, 44 said he knew it was a "slim chance" the treatment might work but he and his wife, Dawn, had to take it.

"The flipside of the coin just wasn't worth thinking about," he said.

(DS)

Source

http://www.4ni.co.uk/news.asp?id=77035

"When you feel inspired, more than ordinary thinking is involved. There is a sense of being uplifted, of suddenly breaking through. Old boundaries fall away, and one feels, if only for a moment, a rush of liberation." ~Deepak Chopra

"In any great organization it is far, far safer to be wrong with the majority than to be right alone."

- John Kenneth Galbraith, economist

Brazil's top court approves stem cell research

By MARCO SIBAJA - 4 days ago

BRASILIA, Brazil (AP) -- Brazil's Supreme Court ruled Thursday that scientists can conduct embryonic stem cell research, which holds the promise of curing Parkinson's disease and diabetes but raises ethical concerns about the limits on human life.

Six of the court's 11 justices upheld a 2005 law allowing embryonic stem cell research and turned down a petition filed that same year by then-Attorney General Claudio Fontelles, who argued the law was unconstitutional because it violates the right to life.

The remaining five judges argued that while the 2005 law is constitutional, research should only be carried out "with restrictions" such as not allowing the embryo to be destroyed and submitting each case for the approval of an ethics commission.

The ruling drew immediate fire from church officials in the world's largest Roman Catholic country.

The National Conference of Brazilian Bishops issued a statement saying it "regretted" the ruling, comparing it to a death sentence. The bishops' conference said its position "is not a matter of religion, but of the defense of human life, beginning with conception."

The law opens the way for research with embryos resulting from in-vitro fertilization that have been frozen for at least three years.

Advocates have said that a favorable Supreme Court ruling could make Brazil Latin America's leader in stem cell research.

They praise Brazilian scientists for their work with adult stem cells for the treatment of cardiovascular diseases and Type 1 diabetes, and have said that similar breakthroughs could be achieved with embryonic stem cells.

Source

"Two roads diverged in a wood,
and I - I took the one less traveled by.
And that has made all the difference."
~Robert Frost

"What seems impossible one minute becomes, through faith, possible the next."
~ Norman Vincent Peale