Thank god for Dr. Hughes. Always the voice of reason. But where is the outrage from other doctors and everyone else. This doctor who is advocating using PGD for "cosmetic" purposes is dangerous. There are FA families who can't get PGD in the countries where they live, and this guy wants to cavalierly and capriciously cater to the vanity of parents who want to order traits for their kids a la carte. 

Just because something can be done doesn't mean you should do it. 

This is truly crazy and needs to be stopped before he endangers the techniques life-saving applications. Maybe I'll write a letter to the newspaper.

FEBRUARY 12, 2009

A Baby, Please. Blond, Freckles -- Hold the Colic

Laboratory Techniques That Screen for Diseases in Embryos Are Now Being Offered to Create Designer Children

By GAUTAM NAIK

Want a daughter with blond hair, green eyes and pale skin?

A Los Angeles clinic says it will soon help couples select both gender and physical traits in a baby when they undergo a form of fertility treatment. The clinic, Fertility Institutes, says it has received "half a dozen" requests for the service, which is based on a procedure called pre-implantation genetic diagnosis, or PGD.

While PGD has long been used for the medical purpose of averting life-threatening diseases in children, the science behind it has quietly progressed to the point that it could potentially be used to create designer babies. It isn't clear that Fertility Institutes can yet deliver on its claims of trait selection. But the growth of PGD, unfettered by any state or federal regulations in the U.S., has accelerated genetic knowledge swiftly enough that pre-selecting cosmetic traits in a baby is no longer the stuff of science fiction.

"It's technically feasible and it can be done," says Mark Hughes, a pioneer of the PGD process and director of Genesis Genetics Institute, a large fertility laboratory in Detroit. However, he adds that "no legitimate lab would get into it and, if they did, they'd be ostracized."

But Fertility Institutes disagrees. "This is cosmetic medicine," says Jeff Steinberg, director of the clinic that is advertising gender and physical trait selection on its Web site. "Others are frightened by the criticism but we have no problems with it."

PGD is a technique whereby a three-day-old embryo, consisting of about six cells, is tested in a lab to see if it carries a particular genetic disease. Embryos free of that disease are implanted in the mother's womb. Introduced in the 1990s, it has allowed thousands of parents to avoid passing on deadly disorders to their children.

But PGD is starting to be used to target less-serious disorders or certain characteristics -- such as a baby's gender -- that aren't medical conditions. The next controversial step is to select physical traits for cosmetic reasons.

"If we're going to produce children who are claimed to be superior because of their particular genes, we risk introducing new sources of discrimination" in society, says Marcy Darnovsky, associate executive director of the Center for Genetics and Society, a nonprofit public interest group in Oakland, Calif. If people use the method to select babies who are more likely to be tall, the thinking goes, then people could effectively be enacting their biases against short people.

In a recent U.S. survey of 999 people who sought genetic counseling, a majority said they supported prenatal genetic tests for the elimination of certain serious diseases. The survey found that 56% supported using them to counter blindness and 75% for mental retardation.

More provocatively, about 10% of respondents said they would want genetic testing for athletic ability, while another 10% voted for improved height. Nearly 13% backed the approach to select for superior intelligence, according to the survey conducted by researchers at the New York University School of Medicine.

There are significant hurdles to any form of genetic enhancement. Most human traits are controlled by multiple genetic factors, and knowledge about their complex workings, though accelerating, is incomplete. And traits such as athleticism and intelligence are affected not just by DNA, but by environmental factors that cannot be controlled in a lab.

While many countries have banned the use of PGD for gender selection, it is permitted in the U.S. In 2006, a survey by the Genetics and Public Policy Center at Johns Hopkins University found that 42% of 137 PGD clinics offered a gender-selection service.

The science of PGD has steadily expanded its scope, often in contentious ways. Embryo screening, for example, is sometimes used to create a genetically matched "savior sibling" -- a younger sister or brother whose healthy cells can be harvested to treat an older sibling with a serious illness.

It also is increasingly used to weed out embryos at risk of genetic diseases -- such as breast cancer -- that could be treated, or that might not strike a person later in life. In 2007, the Bridge Centre fertility clinic in London screened embryos so that a baby wouldn't suffer from a serious squint that afflicted the father.

Instead of avoiding some conditions, the technique also may have been used to select an embryo likely to have the same disease or disability, such as deafness, that affects the parents. The Johns Hopkins survey found that 3% of PGD clinics had provided this service, sometimes described as "negative enhancement." Groups who support this approach argue, for example, that a deaf child born to a deaf couple is better suited to participating in the parents' shared culture. So far, however, no single clinic has been publicly identified as offering this service.

Like several genetic diseases, cosmetic traits are correlated with a large number of DNA variations or markers -- known as single nucleotide polymorphisms, or SNPs -- that work in combination. A new device called the microarray, a small chip coated with DNA sequences, can simultaneously analyze many more spots on the chromosomes.

In October 2007, scientists from deCode Genetics of Iceland published a paper in Nature Genetics pinpointing various SNPs that influence skin, eye and hair color, based on samples taken from people in Iceland and the Netherlands. Along with related genes discovered earlier, "the variants described in this report enable prediction of pigmentation traits based upon an individual's DNA," the company said. Such data, the researchers said, could be useful for teasing out the biology of skin and eye disease and for forensic DNA analysis.

Kari Stefansson, chief executive of deCode, points out that such a test will only provide a certain level of probability that a child will have blond hair or green eyes, not an absolute guarantee. He says: "I vehemently oppose the use of these discoveries for tailor-making children." In the long run, he adds, such a practice would "decrease human diversity, and that's dangerous."

In theory, these data could be used to analyze the DNA of an embryo and determine whether it was more likely to give rise to a baby of a particular hair, skin or eye tint. (The test won't work on other ethnicities such as Asians or Africans because key pigmentation markers for those groups haven't yet been identified.)

For trait selection, a big hurdle is getting enough useful DNA material from the embryo. In a typical PGD procedure, a single cell is removed from a six-cell embryo and tested for the relevant genes or SNPs. It's relatively easy to check and eliminate diseases such as cystic fibrosis that are linked to a single malfunctioning gene. But to read the larger number of SNP markers associated with complex ailments such as diabetes, or traits like hair color, there often isn't enough high-quality genetic material.

William Kearns, a medical geneticist and director of the Shady Grove Center for Preimplantation Genetics in Rockville, Md., says he has made headway in cracking the problem. In a presentation made at a November meeting of the American Society of Human Genetics in Philadelphia, he described how he had managed to amplify the DNA available from a single embryonic cell to identify complex diseases and also certain physical traits.

Of 42 embryos tested, Dr. Kearns said he had enough data to identify SNPs that relate to northern European skin, hair and eye pigmentation in 80% of the samples. (A patent for Dr. Kearn's technique is pending; the test data are unpublished and have yet to be reviewed by other scientists.)

Dr. Kearns' talk attracted the attention of Dr. Steinberg, the head of Fertility Institutes, which already offers PGD for gender selection. The clinic had hoped to collaborate with Dr. Kearns to offer trait selection as well. In December, the clinic's Web site announced that couples who signed up for embryo screening would soon be able to make "a pre-selected choice of gender, eye color, hair color and complexion, along with screening for potentially lethal diseases."

Dr. Kearns says he is firmly against the idea of using PGD to select nonmedical traits. He plans to offer his PGD amplification technique to fertility clinics for medical purposes such as screening for complex disorders, but won't let it be used for physical trait selection. "I'm not going to do designer babies," says Dr. Kearns. "I won't sell my soul for a dollar." A spokeswoman for Dr. Steinberg said: "The relationship between them is very amicable, and this center looks forward to working with Dr. Kearns."

For trait selection, Dr. Steinberg is now betting on a new approach for screening embryos. It involves taking cells from an embryo at day five of its development, compared with typical PGD, which uses cells from day three. The method potentially allows more cells to be obtained, leading to a more reliable diagnosis of the embryo.

Trait selection in babies "is a service," says Dr. Steinberg. "We intend to offer it soon."

Write to Gautam Naik at gautam.naik@wsj.com

Couple abandons plan for a 'saviour child'

Pamela Fayerman
Tuesday, May 13, 2008

METRO VANCOUVER - A Port Coquitlam couple trying to conceive a "saviour child" to supply stem cells for their son with leukemia have now abandoned the effort because the eight-year-old has relapsed and needs a more urgent - albeit mismatched - transplant.

Time has run out in more ways than one for Pam and Mike Obadia, both aged 47.

The couple made national headlines last month when The Vancouver Sun wrote about their desperate bid to boost the survival odds of their son by trying - against biological odds - to create a test-tube baby.

The baby's umbilical cord blood stem cells would be harvested at the time of birth and transplanted into their ill son, Benjamin.

Since the reproductive technology was not offered in B.C., the couple had planned on going to Chicago.

But during recent testing at B.C. Children's Hospital, the family learned that Benjamin had suffered the second relapse of his five-year battle with leukemia.

Now he's on a more aggressive chemotherapy regime and scheduled to get radiation, then a transplant in July.

Benjamin has been on an international registry for two years, but a matched donor has never been found for his unusual tissue type. So the transplant will consist of stem cells from umbilical cord blood of an anonymous source.

Dr. Geoff Cuvelier, a pediatric oncologist at the hospital who is not involved in the Obadia case, said about 10 such mismatched cord blood transplants are done each year at the hospital. The goal of such transplants is to boost the immune system of the relapsed patient so it can attack the residual cancer cells left in the body that chemotherapy doesn't kill.

Pam Obadia said she has been overwhelmed by the love and support from strangers and friends over what she and her husband had planned on doing.

"Although we have to abandon Pre-Implantation Genetic Diagnosis (PGD) because there isn't enough time to wait, we want everyone to know how much we appreciate their universal support," she said in an interview.

The primary purpose of PGD is to select eggs or embryos that are not affected by serious genetic, inherited diseases. But at some private reproductive technology clinics like the one in Chicago, the process is now also being used to find embryos that are a tissue match for an ailing sibling.

It is not offered at hospitals in B.C. because of cost, and ethical and moral concerns about whether it is right to conceive a child for the sake of another.

At B.C. Children's Hospital, parents of sick children are not informed the procedure exists as an option to pursue elsewhere; the Obadias heard about it from a friend.

The process to create a saviour child starts with in vitro fertilization, in which eggs and sperm are incubated in a laboratory to create several embryos that are then screened to determine which to select for implantation into the mother's uterus.

Pam Obadia's odds of getting pregnant were extremely low because of her age, and she admitted she was grasping for a miracle to save her son.

At last count, Benjamin had endured 311 courses of chemotherapy, 296 needles, 38 spinal taps, 16 blood transfusions and 15 bone marrow biopsies. But Pam said her son remains upbeat, to the point that when he saw her crying the other day, he begged her to stop because "'everything is going to be okay.'

"He's an amazing kid," said Pam, adding: "When we were on our way home from the hospital the other day, he actually thanked us for being there to support him. He is thrilled that our long-planned trip to Disneyland in June is still going to go ahead, thanks to the generosity of a friend who is donating a place for us to stay.

"I am still so frustrated that I didn't find out about PGD years ago when Benjamin first got leukemia," said Pam, adding that hospital doctors don't believe there is any onus on them to fully inform patients about options like saviour children.

Dr. Marcia Angell, former editor of the New England Journal of Medicine and a medical ethics expert at Harvard University, said in an interview she finds the hospital's position disturbing.

"I believe the parents' actions were not only ethical, but admirable. There are a lot worse reasons for bringing a child into the world than this one. The Obadias have already shown they are extraordinarily loving parents, and there is no reason to believe they would love a new baby any less than the children they have.

"The notion that somehow a saviour sibling would suffer psychologically is the rankest sort of speculation... The problem here is what I call busybody ethics. To justify their specialty, ethicists sometimes feel the need to wring their hands over everything -even something as clearcut as this," said Angell.

To follow Benjamin's cancer treatment, go to the family website: www.mobadia.ca.

Sun Health Issues Reporters

pfayerman@png.canwest.com

In England, where Aunt Abby, Uncle Andy, Michael, Rachel, Josh and Noah are moving this fall, they are passing laws to make it okay for parents to help save the lives of kids who, like you, can be saved by having a matched sibling transplant.

There are some people who don't want to let parents and doctors do this. The article that I posted the other day from the English newspaper was written because there is controversy about the laws. The mom in the article, Donna, said that no-one over there stepped up to help her and her son Jamie with FA the way Dr. Hughes tried to help us with you, and the way Dr. Verlinsky saved Molly. She then had a baby "the old-fashioned" way and it wasn't a match for Jamie. Understandably she was bummed the baby, Donatella, wasn't a match - but it doesn't mean she is any less loved.

We always wanted to have 3 kids, partly because that is how many kids were in Mom's family and they were really happy growing up. We were going to have more babies after you were born. Having Jack or Joe save your life would have been amazing. We don't love them any less because they couldn't. It is not an issue. Not even on the radar. The blame that parents carry around is for themselves. There is always something you wish you could have done.

I get so tired of the "spare parts" baby thing. Reporters who use it are lazy, and politicians and other people who use it are demagogues. I'll tell you later what a "demagogue" is. That is a high school vocabulary word. People have babies for so many reasons... in the old days people had a lot of kids to help work in the fields, to carry on the family name or to take care of them when they got old. Nowadays some might have a baby to save a failing marriage or because of status. So who is to judge.

The other day I got an email from Jillian Moreno's dad. His job is to think, teach and write about medical ethics and stuff like using pre-implantation genetic diagnosis to identify a potential matched sibling donor. He submitted a letter to the editor of the Washington Post responding to a crazy thing that someone wrote in the paper.

Human-Animal Hybrids and Other Neoconservative Nightmares
Jonathan D. Moreno

My daughter’s schoolmate, Henry Goldberg, died when he was seven years old. Henry was born with Fanconi Anemia. Hoping to save his life with a transplant of healthy, compatible cells, his parents attempted another pregnancy. The placenta that nourished that baby could be used to save Henry’s life. Sadly, Henry never did have a sibling with the needed blood type. Beloved to his friends, Henry was an invariably cheerful little boy. I will never forget the moment in our kitchen in December 2002 when my daughter got a call telling her that Henry was gone.

To help save future Henry’s, in vitro fertilization techniques could make it more likely that a baby with a compatible blood type will be born, by selecting only certain embryos for implantation. Opponents claim that this approach undermines human dignity, yet Henry’s little brother is treasured, and they do not explain how Henry Goldberg’s death enhanced human dignity.

This issue is part of a bill before parliament in London that has turned the usually sensible British system of fertility science into a political crisis for the Brown government. Among other provisions, the bill would permit the preimplantation genetic diagnosis in IVF clinics that could provide “savior siblings” with compatible blood types for children like Henry who have life-threatening conditions.

The law would also formalize a practice that is already permissible in Britain, creating embryos that mix human and animal material for medical science. Human DNA is put into cow eggs with the nucleus removed so that research can be conducted on diseases like Alzheimer’s and Parkinson’s. Animal eggs are used because human eggs are so difficult to obtain. Although critics like to call the products of these mixtures hybrids, conjuring up images of centaurs, the only non-human genetic material left in the embryo is the one percent that is outside the nucleus. The resulting embryos would not be allowed to develop beyond 14 days. Mixing human and animal genetic material is not new in medical science. Among other achievements, it made possible the mapping of the human genome.

These life and death matters don’t fit on a bumper sticker. So the casual reader could be forgiven for being startled by a passage in Michael Gerson’s Washington Post column about British politics last week (“Tories Who Can Teach McCain,” March 28, 2008), when he mentioned legislation “that would allow the moral monstrosity of animal-human hybrids, as well as the creation of ‘savior siblings’ who would have their genetic material harvested for ill children.” Those not sufficiently horrified by these loaded descriptions were immediately aided by Gerson’s assertion that “in Britain, the slippery slope has become a vertical drop, with a respectable, noncontroversial, scientific barbarism at its bottom.”

How far have our gallant allies fallen that neither the Labour nor the Tory leadership perceives the end of civilization at the end of the path they shall soon tread? Gerson’s account would be comical if it weren’t so distorted and so remarkably synchronized with opposition from Christian conservative groups now pressuring members of Parliament.

At end of the day I am wondering who the monsters are. And, when all has been said, what would we tell Henry?

Jonathan D. Moreno teaches medical ethics and the history and sociology of science at the University of Pennsylvania.

I am not as smart as Jonathan and can't make the argument as well as he can -- but to all those people who don't want to let doctors help parents have babies who will save the lives of their sick kids, I would just ask them to read this article that we got this week in the Fanconi newsletter.





Thank god we live in a country where we at least have the chance. If only we just had a little more time to make it work then, I wouldn't have to be writing these letters now.

1st April 2008

I had a 'saviour sibling' to cure my desperately ill son - but now I've found out my newborn daughter can't save his life
By HELEN WEATHERS

Donna Zammit's first, tearful words to her husband Thomas after their baby daughter was born six weeks ago were: "I did this for Jamie."

Strange words, but then baby Donatella was conceived with the primary intention of her becoming a "saviour sibling" to her nine-year-old brother Jamie, who suffers from the rare genetic blood disorder Fanconi anaemia.

Their unbridled optimism that Donatella might provide their son with a bone marrow transplant and in doing so save his life has been cruelly short-lived.

Two weeks ago the Zammits received the devastating phone call from Great Ormond Street hospital in London to say that tests on Donatella's umbilical cord blood had revealed she was not a perfect tissue match for her brother.

She will not save Jamie's life and although Donna and Thomas say they love Donatella just the same, inevitably her birth has been tinged with disappointment.

Mother-of-five Donna, 36, still hasn't broken the devastating news to Jamie, who is already struggling to cope with the physical and emotional effects of the disease, for fear it will emotionally crush him.

She doesn't regret having Donatella, but in her darker moments she questions the wisdom of raising her son's hopes by telling him, before she fell pregnant, she was going to try for a "saviour sibling".

"The time just never seems to be right to tell him," says Donna, a former advertising PA who lives with Thomas, 33, a shop manager in Bromley, Kent.

"The hospital keeps asking me: 'Have you told Jamie yet?' but I don't want to upset him.

"I felt such a failure when we found out that Donatella was not a perfect match, because we'd been so hopeful and quietly optimistic.

"When I first told Jamie I was going to try for a baby to help save his life, his reaction was: 'That's great, mum.'

"He was so sweet and caring when I was pregnant with Donatella and since her birth

"He loves holding his little sister in his arms, stroking her head and kissing her little fingers, and I keep thinking: 'Will he feel the same way about her when he knows she can't help him?'"



And it is this pertinent question which goes to the heart of the controversial ethical debate about "saviour siblings" or, more brutally, "spare part" babies.

To what extent are Jamie's feelings towards his sister coloured by the knowledge she was conceived in the hope of saving his life? Will he end up resenting her for not being able to do so?

And how will Donatella feel, growing up knowing she might not have existed had her brother not needed a bone marrow transplant?

Will she feel as much a failure as her mother, for failing in this one vital respect, and believe herself to have let down both her parents and her brother?

Children diagnosed with Fanconi anaemia, or FA, are generally not expected to survive beyond their teens or early 20s, and if no bone marrow donor is found, will Donatella feel the burden of guilt fall on her small shoulders?

These are tough questions that Donna and Thomas admit have exercised their thoughts daily.

The truth is, they don't know if what they tried to do was right or wrong, they are simply desperate to save Jamie's life.

"I love Donatella as much as my other children. I love her for herself and not for what she might have been able to do for her brother, so while there is a disappointment, I am not disappointed with her," says Donna.

"I don't know if what I tried to do was right or wrong, but until people have stepped into my shoes and lived with the reality of having a very sick child, they have no right to judge.

"As a mother I feel I have a duty to try to do everything I can to try to save my son's life and I believe any mother in the same situation would feel the same way."

Britain's first saviour sibling was born in June 2003 to a couple who were desperate to cure their young son of a rare form of anaemia.

Jamie Whitaker was genetically matched as an IVF embryo to his brother Charlie, who was four years old at the time.

His parents Jayson, 37, and Michelle, 35, from Derbyshire, travelled to Chicago for the specialised treatment - which was a success - after being refused permission to select a tissue-matched embryo by Britain's Human Fertilisation And Embryology Authority.

In July 2004 the HFEA became the first in the world to officially sanction the practice, saying such treatment could benefit the whole family, and in April 2005 the House of Lords ruled that the creation of designer babies to treat brothers and sisters with life-threatening disorders was lawful.



This followed their upholding of a 2003 High Court judgment which granted a couple from Leeds, Raj and Shahana Hashmi, the right to use controversial fertility treatment to select an embryo which could help save the life of their son Zain, then aged six, born with a fatal genetic blood disorder.

Mrs Hashmi, now 43, had a series of unsuccessful attempts at IVF, failing either through miscarriage or because an embryo with the right tissue group was not produced.

In January the House of Lords further approved proposals in the Human Fertilisation and Embryology Bill - which recently sparked a furious row between politicians and the Catholic Church - allowing parents to use saviour siblings to treat serious and potentially life-threatening ailments.

These could include conditions such as sickle cell anaemia, renal failure, kidney disease and spinal diseases.

Needless to say, Donna supports the bill wholeheartedly despite the uncomfortable issues it has thrown up in her family.

She does not intend to use IVF in a further attempt to save her son's life, by conceiving a designer baby as opposed to relying on nature.

"I have five children, one with Fanconi anaemia, and I think to have another would put too much strain on my health - I want to be around to help Jamie," she says. "Our only hope is a bone marrow transplant from a donor."

Donna says she would have loved the opportunity to have IVF - virtually guaranteeing a perfect match for her son - but received negative replies from almost every clinic she approached before she fell pregnant with Donatella, on ethical grounds.

With, campaigners and Catholic Church leaders argue, good reason.

Is it ethical to deny a child the choice over how its body is used? Could that child then be called upon to provide further "spare parts" against its will?

Church leaders are demanding the Government allow MPs a free vote on the bill, based on conscience, and have decried the creation of designer babies, and the destruction of embryos rejected purely because they do not match the tissue of an existing ill sibling.

Surely this must trouble Donna's conscience?

"It took me a year-and-a-half to decide to have a fifth baby," says Donna, whose other sons Tommy, 11, Roberto, five, and Lorenzo, four, are perfectly healthy.

"Great Ormond Street hospital made some approaches to fertility clinics but everything was moving so slowly I decided to have a baby naturally.

"It was absolutely nerve-racking and there were times when I felt like we were playing God. We knew there was a one-in-four chance this baby might also be born with FA and that was a huge risk to take," says Donna, who along with Thomas is a carrier of the disease.

"I didn't know that I would be able to cope with another ill child, and the first 12 weeks of the pregnancy, until tests showed that she didn't have it, were the worst of my life. I felt sick with worry.

"Had Donatella inherited FA I think I would probably have had a termination.

"I love children and I don't believe it's right to end a life, but knowing how Jamie has suffered I also believe it's not right to put a child through that either.

"If we'd been able to have IVF, we would have been able to select an embryo which would have given us some certainty.

"We would have been able to tell Jamie he could have a bone marrow transplant instead of just hoping for it."

Jamie was six years old when Donna and Thomas first started to worry about his health. Always small for his age, he grew increasingly pale, lethargic and breathless after starting school.

Then living in Malta, where Thomas was born, Donna took Jamie to the hospital where tests revealed he had a red cell count of just 3.8, compared with a normal reading of 15 or 16.

Doctors suspected leukaemia, and because they did not have the facilities to investigate further, he was referred to Great Ormond Street hospital.

He went through a battery of tests and was diagnosed with FA in April 2005.

"When they told us Jamie had Fanconi anaemia I didn't know what they were talking about because I'd never even heard of it," says Donna.

"But I knew it was serious when they said his only hope was a bone marrow transplant. We were stunned, and my immediate fear was that our other sons had it too.

"They were all tested and the two weeks we had to wait for the results were the worst of my life.

"I kept looking at them, thinking: 'Have you got it, too?' I kept looking for signs I'd read on the internet and had started to convince myself they had them.

"When Great Ormond Street phoned up and said: 'Good news, Donna, your other sons don't have it,' I collapsed with relief.

"But poor Jamie would say: 'Why me and not my brothers?' He couldn't understand why he was the only one to have this disease.

"I explained to him that we, as parents, had no idea that we carried this disease until he was born and that there was nothing we could have done to prevent it.

"I told him that there are some things in life that we have no control over, but he was only six and to him it just seemed unfair.

"But I'm the kind of person who tries to face things head on and stay positive, so I thought: 'Right, we are going to find a donor and everything is going to be all right.' I was determined to do everything to help our son."

When Donna and Thomas started to research the disease, however, their spirits sank. FA is so rare that it is believed to affect only one in six-and-a-half million people. The number of carriers is between one per 100 and one per 300 of the population.

There are ten families in Britain with children who have the inherited disease, which affects the production of red blood cells, leading to aplastic anaemia.

This is accompanied by a whole host of other medical issues including skeletal problems, small head circumference, short stature, growth and development problems and misshapen or missing thumbs.

People with FA are also more susceptible to developing cancers, such as leukaemia, and organ tumours, and have compromised immunity to common ailments such as colds and infections.

Without a bone marrow transplant, the only treatment for Jamie is monthly blood transfusions or the steroid treatment oxymetholone, which raises the red blood count but has the side effect of bringing on early puberty.

"Jamie was diagnosed in April 2005 and we felt really confident that a bone marrow donor would be found," says Donna.

"Our other sons were tested, in the hope that one of them was a perfect match, but none of them were.

"That Christmas we were elated when Great Ormond Street hospital told us they'd found a female donor who was a nine out of ten tissue match.

"But our world caved in when they explained they would only use this donor as a last resort, if Jamie's condition really deteriorated, because he's in such a fragile state he needs a ten out of ten match for the operation to have a real chance of success.

"Even with a ten out of ten match the survival rate is 80 per cent, because before a transplant operation you have to undergo chemotherapy to dampen down the immune system, and for FA patients chemotherapy is especially toxic.

"So we've been searching for another donor but because Jamie has such a rare tissue type, it's been really hard.

When the staff at Great Ormond Street first mentioned that having another baby might provide a perfect match, my first reaction was to say: 'No way.'

"I felt I had enough to cope with, with four young boys and one who was very ill. It was just too much for me to take in.

"I talked it over with Thomas and he was keen for us to try, but it was me who was going to have to carry the baby and live with the fear that the new baby might also have FA."

What changed Donna's mind was the profound psychological effect FA was having on Jamie, who - as he grew older and understood more about the condition - became prone to depression.

"The drug therapy has also hastened the wild mood swings associated with puberty.

"Although Jamie goes to a mainstream primary school, he can't do all the things the other boys do, so he feels very isolated," says Donna.

"He bruises like a peach and even the slightest graze could lead to a serious infection.

"The steroid treatment has brought on early puberty and all his friends at school keep asking: 'Why has Jamie got such big muscles?' and 'Why is he growing a moustache?' He doesn't like being different from everyone else.

"He has become very easily upset and confrontational at home. Recently he ran upstairs saying: 'I wish I was dead, I wish I had never been born,' and I didn't know how to comfort him.

"All we can do is try to stay positive, make sure he feels loved and distract him with fun activities.

"He won't even talk about his condition now and whenever the hospital or haematologist phones up with the latest blood test results he'll say: 'I don't want to know,' before running off to his room.

"I love all my children equally and treat them all the same, but what mother wouldn't want to do anything in their power to stop their child's suffering?

"That was why I decided to have another child. I'm one of seven children and I always wanted a big family, so I reasoned that maybe I was simply bringing forward the child I was always going to have.

"After my youngest son Lorenzo was born, I certainly never said: 'That's it, no more.'

"I was always open to the idea of more, but Jamie's situation made me think a bit harder. For me, it was a risk worth taking.

"When I became pregnant with Donatella, all the staff at the hospital were so excited for us.

"They care so much for Jamie and I think everyone really thought that this baby would be a perfect match.

"There was a one in four chance of that happening and having had three sons who weren't a match, I thought: 'Surely this one must be?'

"Every time I went to the hospital the nurses would ask: 'When's the baby due?' which made it even worse when I had to tell them that Donatella was not a match and that we were still looking for a bone marrow donor."

A much loved and wanted sibling Donatella may be, but she is not the saviour they all hoped for. How this will affect the dynamic of the family, only time will tell.

The Greatest Gift
20/20 Brings You Heartwarming Stories of Hope This Holiday Season

Dec. 17, 2007 —

Within hours of Katie Trebing's birth Dec. 12, 2002, she needed a blood transfusion to save her life -- the first of many to come.

Steve and Stacy Trebing's daughter was born with Diamond Blackfan Anemia, a rare bone marrow disease that affects just 30 out of 4 million births each year in North America. Stacy will never forget the day her pediatrician broke the news.

"I remember vividly being in his office, holding Katie, and him saying, 'OK, you're gonna be tied to hospitals for the rest of your life.'"

Katie's body wasn't making any red blood cells to carry oxygen to her organs, and never would. She needed transfusions every three to four weeks or she would die. But that treatment came with devastating side effects, drastically shortening Katie's life span. More than 40 percent of transfusion therapy patients die before they turn 40.

There was just one way to cure Katie -- a bone marrow transplant from a perfectly matched sibling. Her older brother, Calvin, was not a match and the Trebings learned about a process of testing embryos called pre-implantation genetic diagnosis. The outcome would ensure their next child and Katie shared the same bone marrow DNA.

Some critics say PGD creates children for "spare parts." For Steve and Stacy, the technology meant a healthy sibling added to their family and the chance for Katie to have a normal life, but there was a dark side. A bone marrow transplant was a perilous operation: It would either cure their daughter or kill her.

Friday on "20/20" you'll see how far this family was willing to go to keep their daughter from a lifetime of suffering, and the events that swayed their decision on whether to create the perfect sibling.

And, find out how you can give the greatest gift to a child this holiday season.

Teachers spend more than $1 billion a year on supplies for their classrooms. That is an astonishing number for these underpaid public servants, and yet they still don't have everything their classrooms need.

A Web site called DonorsChoose.org is bringing help to classrooms around the country that require anything from the most basic supplies to the most innovative teaching tools. From pencils to computers to field trips, teachers post their unique requests on the site and donors can select which proposal they want to fulfill.

It sounds simple, and it is, but since founder Charles Best started the nonprofit seven years ago, more than $15 million has been funded. Not only are teachers getting the essentials that they need, but donors are fulfilled as well.

"When they're happy, they start bouncing around like a little rabbit and you just laugh because of their joy," said a fifth-grade student whose school participated in a fundraiser in the spring that earned $5,000 for DonorsChoose.

Watch these inspiring stories of "The Greatest Gift" Friday on "20/20" at 10 p.m. ET.

Copyright © 2007 ABC News Internet Ventures

Here is the blog of a kid named Andy Trevino who was saved by his sister Sofia. They are from Mexico. Andy had a transplant after his parents had Sofia through PGD. They had their transplant at Boston Childrens.

http://blog.andy.org.mx/

His dad Andres seems like a great guy. He is like Mom. He speaks to people to help them understand why PGD is important.

More Dr. Wagner. He is everywhere. I know Mom suggested to a friend who is doing a story for TV on PGD that she contact Dr. Wagner, so I may be putting another one up here soon.

This also shows the little fella watching his Hope for Henry DVD player.

Video

Looks like Adam Nash just had a birthday. I was trying to do something nice for Molly and it fell through. I feel terrible about disappointing her.

It is Joe's birthday on Saturday. He will be 6. A lot of festivities are planned. Later on I will show you what we got him for his birthday. I'll give you a hint: it has something to do with baseball.

Joe is proud that he is the best underarm farter in school - according to him. He says that Samantha Knapp is pretty good too.



October 1, 2007

BREAKING NEW GROUND

Beth Whitehouse

Oct. 1--The first child in the world born after PGD confirmed he would be a bone marrow match for his older sister is today 7 years old and in first grade.

Lisa and Jack Nash of Englewood, Colo., said they tested their son Adam's embryo to ensure he didn't have the bone marrow disorder Fanconi anemia his sister Molly had and to ensure he would be a tissue match for her.

Finding cure for their daughter

The Nashes speak publicly to people all over the world about what they did to cure their daughter.

"By us being public, other people learn about it," Lisa Nash said.

Fanconi anemia is similar to Diamond Blackfan anemia, the bone marrow disorder Katie Trebing has, in that the patient needs regular blood transfusions to stay alive. However, it is more dangerous. Molly was a few months from death when she had her bone marrow transplant in 2000 using blood from Adam's umbilical cord, Lisa Nash said.

Saving Molly's life was not the sole reason the Nashes had Adam, Lisa Nash said in a telephone interview.

"We had Adam first and foremost because we wanted a bigger family," she said. The Nashes said they would have had Adam through PGD to ensure he didn't have Fanconia anemia, even if it wasn't an option to also check for sibling matching.

"The fact that he was able to help her really was icing on the cake," she added.

Brother's cord blood used

Molly had a bone marrow transplant using Adam's umbilical cord blood the month after he was born. Her bone marrow is now free of Fanconi anemia.

However, there are still concerns about her health. "These kids are still very prone to certain types of cancer. We watch her very closely for head and neck cancers," said Lisa Nash, 41.

Molly has other physical ailments related to her disease. She is deaf in one ear, was born without thumbs, and is fed with a feeding tube, her mother said. Her thyroid failed -- a late-term effect of the chemotherapy that preceded the cord blood transplant -- and she recently had surgery to correct cataracts.

Molly is now 13 years old and is in seventh grade. "The spirit in her and the fire in her -- she is just an amazing, amazing kiddo," her mother said.

The Nashes have since had another child using PGD to avoid Fanconi anemia. Delaine Nash is 4.

The Nashes said they don't talk to the children about the role Adam played in Molly's survival.

"If you ask Adam what happened, he'd say, 'I gave Molly my blood so she would feel better.' Someday when they're old enough, we'll explain it to them," Lisa Nash said. "We want our kids to have normal lives and be just like everybody else."

She scoffs at critics who fret donor children such as Adam might one day feel they weren't really wanted.

"Adam, being the sole male in the family, he is the be all and end all," she said. He is "idolized" and "adored," she said.

Call for oversight

To anyone who worries taking a cell from an embryo -- as is done in PGD testing -- might prove harmful later, Lisa Nash said of her son, "He walks and he talks and he reads. The only thing we see is he can't play basketball, but neither can his father. If you want to attribute something to pulling off the single cell, he can't play basketball."

As for how much they would use Adam in the future to help Molly, Lisa Nash said she and her husband decided before Adam was born they would only use his cord blood and not his bone marrow to cure Molly.

"Adam was brought here because we loved Adam and not for spare parts," she said. The cord blood, she said, was "his garbage. He didn't need it any more. When it came to taking bone marrow from Adam, that wasn't okay in our eyes. That's where we drew the line."

So far, they haven't had to test their resolve.

Lisa Nash said she is a proponent of government oversight of the use of PGD technology. "The government should look at it and put some kind of boundaries and barriers," she said.

Perhaps, she said, insurance companies might also pay for the procedures if they were regulated. She said they spent $250,000 to have Adam, because they had to go through in vitro fertilization five times before it worked. They took out a loan to pay for it.

I wish they could have included a picture of you with this, but it is in part of the newspaper that is very serious. It is very serious but they still have cartoons. Kinda crazy, huh.

There is a picture of you in the paper today, though. There is a magazine called Parade that comes with the newspaper. In it there is a photo of Jack holding a photo of you. There is a picture of Mom and me, too, and I look like I am sucking on a lemon. Mom said they chose that picture because they wanted one that makes us look sad.

I am really proud of Mom.



Vetoing Henry

By Laurie Strongin
Sunday, July 23, 2006; B02

It was meant to be uplifting: President Bush, surrounded by children who had been "adopted" as embryos, vetoing a bill to permit federally funded human embryonic stem cell research. The children were meant to be props, reminders of the lives his veto would supposedly save. But all I could think about were the children who will be lost because of the politics being played by the White House and on Capitol Hill.

I know, because that's what happened to my son.

On Oct. 25, 1995, I gave birth to my first child, a boy my husband and I named Henry. Two weeks later, doctors determined that he had a rare genetic disease called Fanconi anemia (FA). When Henry was born, there were approximately 1,000 people with FA worldwide, and I didn't know a single one of them. I'd never even heard of the disease. But my husband and I were unknowing carriers of the gene that causes it. And so we passed FA on to Henry along with brown hair, brown eyes and dimples.

Over the next seven years, I learned almost everything about FA, and none of it was good -- especially the impossible-to-accept word associated with it: fatal. Our only hope lay on the frontiers of science, in human embryo and stem cell research. That's where our desperate quest for a cure took us, even as distant policymakers placed emotionally devastating stumbling blocks in our path, obstacles that I believe may well have cost Henry his life.

In almost all cases, FA leads to aplastic anemia, in which the bone marrow does not produce enough red cells, white cells or platelets. This inhibits the body's ability to fight infection, causes spontaneous bleeding and exhaustion and leads to death. The most successful treatment is a stem cell transplant, commonly known as a bone marrow transplant.

In 1995, Fanconi transplant survival rates were dismal. No one with Henry's type of FA had ever survived a transplant unless the donor was a sibling. For Henry to live long enough to reach kindergarten, we would have to have a baby who did not inherit FA and was a perfect stem cell donor for him. With each pregnancy we would have an 18 percent chance of hitting those odds. It was a long shot.

From the moment of Henry's diagnosis, my husband and I believed that if we made every call, pulled every string and pushed love and science to their outer limits, Henry would escape his fate. We searched for someone in the medical world who, like us, was unwilling to accept Henry's death sentence without a fight.

Our search led us to Mark Hughes, then chief of reproductive and prenatal genetics at the National Institutes of Health. He had figured out a way to combine in vitro fertilization with genetic testing before an embryo is implanted. This procedure, preimplantation genetic diagnosis (PGD), involves extracting and testing a single cell from an eight-cell embryo. The results could allow us to know at the moment of conception that our next baby would avoid FA and be an ideal stem cell donor for Henry.

By collecting this healthy baby's umbilical cord blood -- which is typically discarded -- at birth and transplanting the stem cells into Henry, we could save him. Hughes had used PGD to screen embryos for fatal childhood diseases such as cystic fibrosis. But neither he nor anyone else had ever used PGD to save the life of a child already born.

When we began quietly pursuing PGD a decade ago, it was not on the national news or featured in fertility clinic advertisements. It was somewhere between a hope and a dream shared by a small group of doctors and families. But on Jan. 9, 1997, an article in The Washington Post reported that Hughes was violating a two-year-old federal ban on human embryo research with his work on PGD.

Under the ban, Hughes was barred from performing that work as part of his position at NIH. Refusing to abandon his research or the families who were depending on it, he set up a lab as part of an in vitro fertility program at a private hospital across the street in Bethesda. But he was considered in violation of the federal law because his work at the hospital employed NIH research fellows and used NIH equipment -- a refrigerator.

Over the following weeks, the daily headlines all read the same to me: Henry is going to die. As our doctor was forced to resign from his job and faced congressional hearings, Henry's blood counts declined. We searched for alternatives to PGD, but none existed. The politically triggered delay had stolen precious time in our race to save Henry's life. On Dec. 11, 2002, he died in my arms.

There were nearly 100 embryos left over from our PGD attempts. Many had Fanconi anemia. All were precious. After we unsuccessfully attempted to use a number of them to have another baby, it became clear to us that they are not potential life, but lifesavers. So we signed consent forms donating our remaining embryos to be used in research that would provide hope and answers for other couples.

Hospitals are filled with children whose lives depend on medical advances that hold the promise of stalling or even reversing fatal disease. During last week's ceremony in the White House East Room, Bush justified his veto by saying that the bill "would support the taking of innocent human life." But the East Room isn't big enough for all the additional innocent lives that will be lost as a result of his decision.

lstrongin@starpower.net

Laurie Strongin is the founder of the Hope for Henry Foundation.


© 2006 The Washington Post Company

"Wiz" kid
A rare disease couldn't keep Molly Nash from being born for the stage
By John Moore
Denver Post Theater Critic

When little Molly Nash recently auditioned for "The Wiz," she belted out her favorite song as if her life depended on it. At one time, it did.

"Five hundred twenty-five thousand six hundred minutes: How do you measure a year in the life?"

For the Nash family, nothing measures the year following Molly's landmark, life-saving blood transfusion in 2000 like the theme song from "Rent."

"What that song means to me is that when I was really sick and in the hospital, my parents were counting every minute and every second we had together," said Molly, who turned 12 on July 4.

Molly's parents are Jack and Lisa Nash of Greenwood Village, who set medical history by the way they saved their daughter's life six years ago. Then they had to wait out another 525,600 agonizing minutes of recovery in a sterile isolation unit before learning that Molly would, indeed, survive.

"Time goes on for the world, but time stood still for us," said Lisa. "They say if you can make it through that first year, then you have a chance. But kids were dying all over that transplant unit. So 525,600 minutes? Yeah. I can tell you every single minute of that year."

Molly was born with Fanconi anemia, a rare and deadly genetic disease that prevented her from creating healthy bone marrow, which led to the onset of leukemia. By age 6, Molly lay near death. Her last best chance for survival was infused stem cells from the placenta of a nonexistent sibling.

The Nashes always wanted more kids but had feared passing on the disease to more children. Even if they were to conceive naturally now, the odds were 1 in 4 the child would have the Fanconi gene, and it would be four months before they would know for sure.

That was time Molly might not have, so they underwent selective genetic testing and in-vitro fertilization to produce a healthy match. After the seventh attempt, brother Adam was born, and Molly was saved. Three years layer, sister Delaine joined the growing brood.

"When Molly went to transplant, she didn't have much time left," Lisa said. "At Adam's circumcision, she was gray, and she had to be carried down the aisle of the synagogue because she could not walk."

The use of umbilical-cord blood to save a life was not new. But Adam is believed to be the first donor ever selected and cleared while still an embryo. Because of the worldwide attention that followed, perhaps it's no surprise that Molly now says, "I was born for the stage." She's been on a worldwide stage of sorts her entire life.

Adam to the rescue

Five-year-old Adam bounds down the stairs of the Nash home and into your lap enthusing, "Guess who made Molly healthy?"' Then he flashes a small framed picture of himself.

"I'm guessing it's ... Adam?"

"It's me!" the boy says with glee. "I gave her the blood that I didn't need!"

His mom says, "Adam, if you were a peacock, your feathers would be out to here." Within seconds he's entirely refocused on his "Monster Garage" video. Ah, 5-year-olds.

Molly was sick and Adam helped make her better: That's the sum total of what her children know, Lisa said. Otherwise, their sibling rivalry and revelry are textbook typical.

"She's the best sister in the whole world," Adam says almost too sweetly. But Molly knows the score. "He's good," she says, "but he can be annoying. He pulled my hair this morning."

In time, the pair will learn what all those boxes of press clippings in the basement are all about. They tell the story of a quiet young couple thrust into a worldwide spotlight for choosing to use existing technology to save their child's life.

When Molly was 6, Pre-implementation Genetic Diagnosis (PGD) was more science fiction than science to the Nashes. In it they saw not controversy, only hope - the birth of a second child would more than triple Molly's chances of survival.

Lisa has heard all the arguments about playing God with genetics, but she defies any parent to not try the same thing in her position. "I just say don't judge anybody until you've been standing in their shoes."

After six failed in-vitro attempts, Lisa's shoes were quaking with fear. With Molly's time growing short, her doctor advised taking their greatly reduced chances on a nonrelated

Molly Nash, right, is seen during dress rehearsal at the Space Theatre at the Denver Performing Arts Complex. She plays one of four Munchkins. (Post / Helen H. Richardson)

donor. But with so many kids dying on that route, Lisa opted for one last in-vitro try. Time was of the essence, and the stakes could not have been higher.

"When you go to Vegas, you know you are going to lose money. That's gambling," Lisa said. "Here we were gambling with her life. And it wasn't a few hundred bucks we would be losing. We would be losing our kids."

Lisa was told she was pregnant on Christmas Eve, but she didn't believe it. "I told the nurse, 'You just don't want to hurt me because I'll have a rotten Christmas Eve, but it's OK because I'm Jewish,"' she said.

Still not convinced, Lisa wrapped Molly like a mummy and drove to Target, where five pregnancy tests confirmed it. "I'm watching it turn positive, one after the other, and I'm screaming in the stall," Lisa said.

"You laugh," Jack added. "I still have to live with these things."

He's not kidding. "I still have those pregnancy tests up in my closet," Lisa said.

Little did the family know, though, that their private godsend would soon become a public moral debate. After Adam's birth, photographers climbed trees outside the University of Minnesota Hospital to get pictures of the kids in the transplant room. The Nashes received a letter from the Vatican excommunicating them from the Catholic Church. "I mean, does that really mean anything ... when you're Jewish?" Lisa can now say with a laugh.

"When Jack and I were making this decision, we didn't do it for the world's approval. It was to save our family. More than that, it was to have a family, a healthy family. And then the world decided they were going to take issue with what we did?"

Jack, the general manager of the Hampton Inn and Suites, said while "we obviously used the technology to save Molly, the real reason was so we could have other kids."

As for the religious debate over stem-cell harvesting, Lisa emphasizes that Adam was never needled in any way. "After he was born, they took blood from his placenta, which they usually throw out," she said. Added Jack: "We should have gotten a rebate because we recycled!"



One happy munchkin

When Adam says, "My sister is a blue-haired munchkin," he's not being a bratty brother. Molly is playing just that in "The Wiz" for the esteemed handicapped theater group called PHAMALy.

"When I found out I got in, I screamed my head off," she said. "I was so happy."

PHAMALy enables people with disabilities to perform in a professional annual summer musical at the Denver Performing Arts Complex.

"These people have all been through so much," said Lisa. "They have been through car accidents and Parkinson's and leukemia and bone-marrow transplants. They all deserve happy times. Well, these are the happy times. They all deserve to shine and to have their moment."

Molly has sat in PHAMALy's audience the past four years, wanting nothing more than to be on stage with them. "I think it's really neat," she says, "because I finally get to do something."

Lisa says Molly has always thought of herself as a little different, "but she's no longer different here," she said. "Nobody is. Yes, they have physical challenges. But among them here, they are all whole. And they are all perfect."

To notice what's wrong with Molly, you first have to get past that sweet toothy smile and that cackling laugh. It's that laugh, and her compartmentalized size, that got Molly cast as a munchkin in the first place.

With Molly wriggling in her lap, Lisa counts off five birth defects before she even leaves Molly's head. In all, she has "close to 20 birth defects," Lisa says. "That's all I can think of today."

Molly asks, "What are birth defects?"

"They are the things that make you special," her mom says. But unlike leukemia, they are nothing this family can't live with.

Molly was just 2 when a neighbor kid let her tag along at a dance class taught by PHAMALy choreographer Debbie Stark.

"In walks this precious girl wearing a mask that covered her entire face," said Stark. "She came in the door and announced, 'I'm here today.' I fell in love right then and there. That became the motto for her whole life: 'I'm here today."'

Because Molly was susceptible to infection,




The entire Nash family sits together in the family living room. They are, from left: Adam, Lisa, Delaine, Jack and Molly. (Post / Helen H. Richardson)

she could not take classes with other kids. So Stark would lock up her studio, and the two would dance there together for hours. Four years later, Stark became Adam's godmother. She still takes Molly to see theater all over town. Molly especially loves the Country Dinner Playhouse, where she saw "Grease" six times and developed a crush on a boy "who turned out to be a poophead."

Ever since Molly was born, she says, "My dream was to do a show with Debbie." And so with "The Wiz," "now I got my dream come true." The night before, the company had a 12-hour rehearsal that ended at 11 p.m. Everyone was exhausted - but not Molly. She said to Stark, "Do we really have to leave now?"

The theater community hosted a benefit in 2000 called "A Moment for Molly," where she was presented a silver-balled necklace that belonged to 'N Sync's Chris Kirkpatrick. Months before, "Buzz" Reifman, Denver's "doctor to the stars," arranged for Molly to meet her idols backstage at a concert.

Kirkpatrick said, "I like your pony tail," and Molly said back, "I like your necklace." Kirkpatrick moved Molly's family to the front row, and he sang "God Must Have Spent a Little More Time on You" directly to her. "Some girls in back of us thought he was singing to them, but he said, no, he was singing to me," Molly beamed.

Kirkpatrick sent a recorded message to Molly's benefit. When he said, "I have a little present for you," Reifman produced the necklace Molly had so admired. She's since been offered $10,000 for it, but Molly's not selling it - "not ever."

An uncertain future

Molly's prognosis is unclear, because there are only about 300 people in the world with Fanconi. What her parents do know is that she is extremely susceptible to several cancers.

They also know that Molly's transfusion bought them time. Time for her to meet her brother and sister. To develop mad crushes on boys and a passion for dance. To find a cure for cancer. Time to soon become a teenager, something that seemed impossible at birth, when doctors predicted she would die by 7.



"There was a really strong possibility that there was never going to be an Adam, and there was a chance that, God forbid, there was never going to be a Molly beyond a certain age," Lisa said. "But through this technology, we have a family. And our kids are going to all grow up together, and they are going to outlive me. So it's a miracle.

"Yes, it stinks that Molly was born with a disease, but I don't think of it as a punishment because God gave me my Molly - for good and for bad, and for her challenges. And I wouldn't have switched her for any other baby."

"Thank you momma," Molly says before giggling like a blue-haired munchkin.

Theater critic John Moore can be reached at 303-820-1056 or jmoore@denverpost.com.

I started reading Dr. Livingston's book after the guys went to sleep tonight. Mom was at her book group. It was hard but good to read. It reminded me of the blog that I kept when we got to Minnesota and you died. I reread that by accident the other night as I was getting ready to leave work. It still makes me cry just looking at the pictures.

Dr. Livingston didn't know his son Lucas was going to die when he started keeping his journal. But there was the possibility. There were a lot of similarities in your experience and his son's. Both of you died post bone marrow transplant from complications caused by GVHD. Lucas was a patient on the eighth floor at Hopkins. You were only an outpatient on that floor. When you were admitted I am pretty sure you were on 5.

As I read the book I kept crossing my legs together tightly. I do that when I am at the dentist. I felt physically uncomfortable as I read about Lucas getting sicker and sicker, and his dad not being able to do anything about it. I stopped reading when I got to the part where Lucas died. Mom came home right about then. The second half is about his grief. I will finish it tomorrow.

When I closed the book I put on the TV and there was a guy I used to know being interviewed about a book he just wrote. It was "jarring." I don't know where that word comes from, but it described how unsettled it felt. Even though it is supposed to be serious, this person's book seemed really silly compared to what I just read.

When we started doing the PGD Mom asked me if I would keep a journal of how I felt about what we were doing. I know she wanted to write a book about it back then because it was so new, important and hopeful. For some reason I didn't want to and she went on and kept journals on her own. I am glad she did. I should reread those sometime, too.

I think my reason for not wanting to write was that I was just so incredibly confident that you would live and that there would always be time to write about how your life was saved. I do regret that now. I wonder if it would have been different if they had blogging back then.

Just like wishing I had taken more photos of you, I wish I could have written about more everyday stuff with you. I wish I had written about the little things that happen that tell what kind of guy you were and what our relationship was like.

Now during the course of any day I'll have a very vivid memory of a certain moment in time with you. Last week I was remembering sitting in the parking lot at Target in Minneapolis listening to the Arthur and Friends CD in the car while Mom shopped for Pokemon and other fun things for you and Jack.

You couldn't go inside because you were immune compromised. Your favorite song on the CD was "Jekyll/Hyde," which I think was sung by The Brain. We probably played it loud and over and over. I seem to recall Jack not liking it. But what did we say to each other, what jokes did you tell, what did you and Jack say to each other. Were you eating anything. Did we call Mom on her cell phone inside and ask her not to forget something or another. I want that stuff.

What I really wish I had was a journal that captured Henry moments like the Joe moment I had tonight.

I was with Jack and Joe upstairs in our room. Emptying change from my pocket, I saw Joe perk up at the sound. He wanted the coins. I told him he could have them and he should take them into his room and put them in his piggy bank. I turned to talk to Jack and I heard the gumball machine handle being turned. I realized that instead of the piggy bank, Joe was making a deposit in Calvert Street Branch of the First National Bank of Tooth Decay. He is a rascal, plain and simple. I hope "rascal" isn't what you call a criminal at 3 years of age.

Joe used a dime, not a quarter, and the handle wouldn't turn. It was stuck. I tried putting a quarter in and it wouldn't go all the way in. I was very bummed. I tried to get the dime out with a tweezer and then I turned the whole thing upside down and shook it. Nothing worked.

I told Joe that I was upset with him because I had told him he could have the money for his bank and he used it for gum instead. And then I pushed things a little further and said he broke the gumball machine that I had bought especially for Mom and that we had for less than a month. I wish I hadn't been so harsh but I was really mad at him. Interestingly, he didn't cry. He also didn't apologize, which just made me madder.

I decided to cool off downstairs and just get over it. It is only a stupid gumball machine.

Later on when we were getting ready for bed, I read him a few books and then I turned off his light and we snuggled. What was nice was we started having a talk in a whisper about his day. There was something just nice and special about that - I can't explain why. Then out of nowhere in our conversation he whispered, "I am sorry that I broke the gumall machine." Wow. I gave him the biggest hug and told him that he was a really big boy for saying that.

That is what I want to remember about you and me. Pictures just don't do it.

When I was finally going to sleep tonight I had a clear picture in my head of cardiac PICU at Boston Childrens. Instead of you I was thinking about the crib right next to yours where there was a little baby boy at the start of one evening who totally vanished without a trace by morning. I remembered that there had been something significant about his name. Even though Mom was drifting off I asked her if she remembered. That baby was the first -- and I was hoping the only -- Henry who I would know to die much too young.

Good night sweet boy.



p.s. Mom fixed the gumball machine. She's a champ.

This article talks about your friend Molly. It says that because of Fanconi anemia she would not live to see her 8th birthday. They used to tell us the same thing. Thankfully, Molly is alive and okay.

Today would have been your 9th birthday. I think they should have said because of Fanconi anemia you would not live to see your 8th birthday, and 9th and 10th and 11th and 12th and 13th. Just saying one of them doesn't really bring home the reality of it all.



Procedure opens window of hope
By JENNI LAIDMAN
Blade Science Writer

October 25, 2004

The box felt empty.
Still, its presence on the floor of the backseat weighed on Jennifer and Joe Makhlouf with the heft of a planet.

The Lambertville couple drove to Chicago with this strange little container in their care. They could hardly bear to touch it.

Inside the lunchbox-sized incubator were two tiny embryos.

Since the 1980s, researchers have sought a way to predict the genetic health of embryos before they're put in a woman's womb.

The Makhloufs are among hundreds of couples taking advantage of testing that they hoped would save them the grief of another miscarriage.

But the technique, called preimplantation genetic diagnosis, or PGD, is fraught with controversy. Some criticize its accuracy. Some worry about what happens when one or two cells of an eight-cell embryo are removed for analysis. And others worry about the morality of choosing a child based on the genes he possesses.

For the Makhloufs, the question was simple: were these embryos even sound enough to survive? But the technique has far more ethically complicated applications. Parents can select an infant's sex. They can screen out embryos with genetic childhood disease. They can select babies who won't develop ailments that occur far into adulthood, such as Huntington's disease or some forms of Alzheimer's. They can even use it to select an infant to save the life of another child.

That's what Lisa and Jack Nash did. In 1999, the Denver couple's little girl Molly was dying of a rare genetic disease called Fanconi anemia. Without a stem-cell transplant from a matching donor, Molly's chances were slim.

"There was this gorgeous little baby, and they were telling us" she had the worst type of Fanconi, Lisa Nash said. Her bone marrow, with all its blood-making capabilities, would fail. Doctors said Molly wouldn't live to see her 8th birthday.

"In the back of my mind I'm thinking, yeah. Right. I don't care what I have to do, or where I have to go, she's going to make it. She's going to be OK," Lisa said.

Molly was born without hip sockets. She had no thumbs. She had holes in her heart and was deaf in her left ear. Eating was difficult. She had to be tube fed. Surgeries corrected her hands. She had multiple stomach operations. But by age 3, her bone marrow was failing.

When the Nashes heard about preimplantation diagnosis, it was with a bright stab of hope. Here was the chance to pick an embryo without Fanconi - there was a 1 in 4 chance any child of theirs would be born with the disease - that would be a genetic match for their little girl.

A child who was an immune-match would be a baby saver. After its birth, its umbilical cord blood would be collected, and the stem cells within would be grown to create new bone marrow for Molly. But four IVF attempts in 12 months failed. Lisa Nash had two miscarriages. Other embryos carried Fanconi, or lacked the right genetic signature.

It seemed hopeless. Even their doctor counseled against a fifth attempt. But Lisa insisted. This time, Lisa's eggs made only three embryos. Two were bone marrow matches. One of those matches had Fanconi.

"So we have one. This is our last shot," she said.

She had the embryo put into her womb, and continued to watch Molly fail day by day. It didn't look good.

On Christmas Eve, 1999, the doctor's office called and told her she was pregnant. Lisa didn't believe it. She put Molly in the car and headed to the store.

"I bought five pregnancy tests, went into a stall on Christmas Eve and peed on all five sticks and watched them all turn positive."

She called the doctor's office back: "I'm pregnant!" she told the nurse.

But in her 7th week of pregnancy, it all seemed to unravel.

"I was in the shower and it looked like 'Psycho,'" Ms. Nash said.

She was covered in blood.

"I started praying. I was losing both my children. Molly was going to die and we had no time, and everything Molly wanted in the world" - her own life, a little brother - was slipping away.

The infant's placenta had torn. Lisa spent the rest of the pregnancy in bed.

In March, 2000 a bone-marrow biopsy showed Molly's cells were pre-leukemic. At the end of June, another biopsy revealed worse results. If Lisa would agree to deliver early, she could save Molly now.

"I said, 'Absolutely not.'"

In late August, "Adam was born with a scream that cracked the walls. It was the most beautiful sound I ever heard."

Doctors examined the newborn, collected Adam's cord blood, and gave Molly her new stem cells a month later.

Today, Molly is 10 years old and in fourth grade.

"She's doing perfect," Lisa said. She still has Fanconi, she still requires tube feeding, "But her blood and bone marrow are healthier than mine are, and there's nothing she cannot do if she puts her mind to it."

Adam, the baby who saved her, is a happy 4-year-old. A third baby born of IVF, Delanie, is 18 months.

The Nashes were the first people in the world to use preimplantation genetic diagnosis to save another child. They make no apologies for their oft-criticized decision.

"Until they've been where I've been, and watched their child die slowly, day by day by day … until they've walked in my shoes, they'll never know what they would do. If you don't believe in it, don't do it. But don't judge me," Lisa said.

The process didn't hurt Adam at all.

"He was sort of like the pot of gold at the end of the rainbow," she said. "We had Adam so we could have Adam. The fact that he could help keep his sister here was sort of icing on the cake."

For Joe and Jennifer Makhlouf, using preimplantation genetic diagnosis was a simpler matter.

The couple tried for three years to have a child before turn

ing to fertility treatment. A year of fertility drugs didn't help.

"All of my friends were having their first babies. My sister had just gotten pregnant with twins. His brother's wife just got pregnant. Everybody was pregnant but us," Jennifer said. The couple was heartsick.

So they turned to in vitro fertilization. It wasn't a simple choice. They are Catholic. The church opposes assisted reproduction.

Not all Catholic couples take this prohibition as seriously as the Makhloufs. But they were torn between their ache for a baby and their strong loyalty to their church. They sought counsel from a priest.

Pray about it, the priest said. Look for God's guidance.

They decided to go forward.

"It's in God's hands," Joe said. "God is guiding the surgeon's hands." But they made one promise to themselves: no embryo would be destroyed in their effort to have children.

Their first in vitro attempt failed. A second attempt brought a pregnancy, but their elation died with a miscarriage.

To determine why this healthy young couple could not carry a pregnancy to term, Dr. F. Nicholas Shamma, with IVF Michigan, which includes Toledo Fertility Center in Sylvania, sent them for genetic testing.

The test revealed a problem in Jennifer's chromosomes. One had a tendency to invert. The flaw killed embryos.

That's when Dr. Shamma suggested preimplantation genetic diagnosis. The couple's embryos would be screened, and only the ones capable of surviving a pregnancy would be returned to Jennifer Makhlouf.

The Reproductive Genetics Institute was closed when the Jennifer and Joe finally arrived in Chicago. They rang a doorbell. A man in a white coat met them at the door, took the little incubator from their hands, and walked away. Now, the waiting began.

Without PGD, couples learn of fetal defects only after a pregnancy is established. At that point, they can decide to abort, or prepare themselves for the special needs of their new baby.

It appears a growing number of couples abort.

There is little data on the subject, but one study by the U.S. Centers for Disease Control and Prevention published in 1994 shows an unexplained decline in the number of children born with Down syndrome to mothers 35 years and older. This is the age group with the highest incidence of Down syndrome babies, and also the one most likely to be offered prenatal testing for the chromosomal abnormality.

In this CDC study of 17 states, the number of Down syndrome babies dropped 29 percent, from 36.6 per 10,000 births in 1983 to 25.9 per 10,000 in 1990.

Other couples who carry genetic diseases often decide to forgo pregnancy rather than risk cystic fibrosis or sickle-cell anemia. PGD would allow them to make sure an embryo is free of such diseases.

Use of the technique increases as researchers develop more probes for specific diseases.

But some have grave ethical concerns about the practice.

Wesley J. Smith calls PGD "really dangerous," because of the kinds of selection it could, some day, permit. Mr. Smith is a lawyer and senior fellow at the conservative Seattle think tank, the Discovery Institute.

"What if they found homosexuality was genetically based?" he asked. "How many of those embryos do you think would make it to being born?"

He notes one survey that found 11 percent of respondents would abort a child that carried a genetic propensity to obesity.

But such concerns are premature. Most human behavior is the result of complicated interactions among many genes and the environment. Science has not identified the genes that make us intelligent, or antisocial, or simply taller.

But there are screens for some adult diseases that could have serious consequences, he said.

"What might have happened in past, if we were able to really genetically judge our children?" he asked.

"Some of the most powerful contributors to human welfare were people who had to go through significant difficulties," Mr. Smith said.

Abraham Lincoln was prone to depression, Mr. Smith said. Other great leaders struggled with alcoholism. Physicist Stephen Hawking has amyotrophic lateral sclerosis, also known as Lou Gehrig's disease. And what about Lou Gehrig himself?

Would the "This Land Is Your Land," have ever been written had Woody Guthrie's parents known he would die of Huntington's disease at 55?

Selection of embryos to avoid adult diseases is not about the child being created, Mr. Smith said, "but about us. We don't want to deal with it." These are choices that may take "away the best of us."

One of the more controversial uses of PGD is for sex selection.

The American Society of Reproductive Medicine, which represents most U.S. fertility doctors, recommends PGD for sex selection only to prevent sex-linked diseases.

But ASRM's position hasn't stopped fertility specialists from a broader use of sex selection. A few clinics advertise the availability of sex selection, and IVF Michigan, which includes the Toledo Fertility Center in Sylvania, allows it if, for instance, a family has three sons and wants a daughter, a practice called family balancing.

But Yury Verlinsky, director of the Chicago reproductive laboratory to which the Makhloufs took their precious embryos, said that a couple doesn't have to tell him they're doing sex selection. The embryos' sex is part of the report. Parents simply can chose without getting anyone's permission.

A few clinics offer PGD routinely. Mr. Verlinsky's lab has performed PGD on about 5,000 embryos that led to the births of 600 babies, he said. He believes the procedure reduces miscarriage rates among IVF patients from 80 percent to 15 percent. Mr. Verlinsky says this data will be presented at a conference soon. It is not published in a scientific journal.

"We offer it for 100 percent of our patients. We suggest it for everyone who goes through IVF," he said.

His clinic is unusual in its total advocacy for PGD. Joseph Karnitis of the Toledo Hospital Fertility Clinic advocates PGD only for patients with a history of specific genetic conditions.

The Toledo Hospital does not do the work itself, but refers the patients to other fertility laboratories.

But Dr. J. Ricardo Loret de Mola of the MacDonald Fertility & IVF Program, part of University Hospitals Health System in Cleveland, says there's little clear evidence that preimplantation genetic diagnosis improves pregnancy rates.

"The data is actually controversial," he said, and he worries the technique could harm normal embryos.

"It's a procedure that's never been studied, really, in longitudinal data. You have to digest a hole on the embryo. You expose the embryo to chemicals. You can do it with laser, but you're exposing the embryo to heat, heat that normally wouldn't be there. You have to extract one or two cells out."

Further, the technique is not a perfect predictor, Dr. Loret de Mola said.

"We think of this technology as foolproof. It is not foolproof. We really do not understand how the embryo works," he said.

When Jennifer and Joe Makhlouf dropped off their two embryos at the Reproductive Genetics Institute in Chicago, they just wanted to know if they could have a baby.

They tried to relax, spending a Saturday in Chicago shopping and visiting friends. But those two tiny embryos never were far from their mind.

"To tell you the truth, that whole week was just excruciating," Joe said, "just to await the outcome of our two precious embryos."

The laboratory promised to call the couple at noon on Sunday. The Makhloufs paced their cramped hotel room, seldom glancing out the single window into the snowy streets. Around 1:30, the phone rang.

The embryos were both normal. And they were both boys.

The couple went straight to the lab to retrieve the small incubator. Another nerve-wracking drive, this time through heavy traffic, brought them back to Michigan IVF after dark. A doctor met them in the parking lot. He took the box, and the Makhloufs went home for a restless night's sleep.

The next morning, they were at the clinic before 9. In the two days since they left for Chicago, the embryos had grown to 100 cells. Doctors carefully returned them to their mother's womb. Everyone held their breath.

Today, their son, Anthony is nearly a year old. He sits on dad's lap, giving his guests intensely focused scrutiny before looking for something more interesting.

"We go to bed every night and our last words to each other before we go to sleep are about how cute Anthony is," Jennifer said.

"The day after I delivered him, I was going down the hall to get a drink. I heard all the other babies in the ward crying, and I came back and said, 'Joe, our baby cries the cutest.'"

I found what I had originally written. Here it is. You were still alive.



July 17, 2001

In October my wife, Laurie and I will have our third child. Even though all three were conceived naturally, we have a significant number of embryos in frozen storage on the Upper East Side courtesy of nine in vitro fertilization cycles. As far as we know, ours may well be the largest personal cache of embryos anywhere. As chronicled in the New York Times Sunday Magazine cover story on July 1, we attempted IVF so often because we were trying to have another child who was free of Fanconi anemia (FA), the deadly genetic disease we had passed to our first son, Henry. We were also trying to guarantee a perfectly matched bone marrow donor for the transplant that Henry so desperately needed.

The remarkable science that allows families to identify and implant healthy embryos through IVF is called Pre-implantation Genetic Diagnosis (PGD). PGD is a godsend to parents like my wife and me who are carriers of genetic disease and want to have healthy children while avoiding any prospect of abortion. Naturally, PGD is only available to us now because of past research performed on human embryos.

The science of PGD has been pushed to the point where it can also identify an embryo that would be the best stem cell donor for its sibling. The application of this science is in its early stages but holds tremendous promise for all children suffering from diseases that can be treated with a stem cell transplant, like leukemia. If we had become pregnant with a healthy genetic match though IVF, then our doctors could have painlessly taken stem cells from the baby's umbilical cord at birth to cure his or her older brother's bone marrow failure and save Henry's life. Unfortunately, we were unsuccessful and Henry's deteriorating health forced us to undertake his transplant one year ago using a less desirable unrelated bone marrow donor. Henry is alive today but clinically has suffered so much more - spending a year in and out of the hospital, enduring invasive lung, brain, liver and skin biopsies - than if he had received stem cells from a genetically matched sibling. Although time ran out for us, further research on embryos will improve the success rate for all of the families coming after us hoping to use PGD to have healthy children who are also well-matched stem cell donors for sick siblings. Fortunately, we are in a position to help.

Now that Laurie and I are done baby making, we asked The Center for Reproductive Medicine and Infertility at the New York Presbyterian Hospital - Weill Medical College of Cornell University to send us its "Embryo Disposition Consent" form. The consent form came in the mail today and unlike the other medical related decisions we have had to make over the past five-and-one-half years of Henry's chronic illness, this one did not require much thought. The document details three clear choices, (1) donate our embryos to a married couple trying to have children, (2) thaw and dispose, or (3) donate them for research.

After Henry's transplant we did try one more IVF attempt, a "frozen" cycle, to have the third child we have always wanted. Embryologists at Cornell had to thaw 19 of our healthy embryos just to get three that would thrive enough for transfer. After these 3 were implanted in Laurie's uterus but failed to grow, we knew that the remaining 60 or so embryos still preserved represented a tremendous opportunity to make medical advances, not babies. Embryonic stem cell research improved the science of bone marrow transplantation and is responsible for saving Henry's life. And while stem cells extracted from embryos hold the promise of a cure for Alzheimers, Parkinson's and diabetes, we should not forget that research using embryos is also critical to the treatment of infertility, pregnancy loss, genetic disease and cancer. Today as we check the box with our preference to donate these embryos, so precious not for the lives they might become but for the lives they might save, we are understandably concerned about the current uncertainty over federal support for embryo research.

When their daughter Robin died almost 50 years ago at age three of leukemia, George and Barbara Bush lost the same heartbreaking fight Laurie and I have fought for the past 5 years. If Robin had come into the world today, medical advances partly born out of research conducted on human embryos could potentially save her life. Continued embryo research provides hope where there once was none. Robin's brother, our president, can honor her memory by supporting a federal role in embryo research. He made the case so strongly in his inaugural address; "We must show courage in a time of blessing by confronting problems instead of passing them on to future generations. Where there is suffering, there is duty. Americans in need are not strangers; they are citizens, not problems, but priorities. And all of us are diminished when any are hopeless."

Clearly, in this time of blessing it is critical that President Bush does his duty and provides hope to families suffering from illness and chronic disease by authorizing funding and oversight of embryo research. All Mr. Bush needs to do is to look as far as his own family to see that this is a priority, not a problem.