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.

I started this two weeks ago…

I am on the train up to New York. Mom and Joe are across the aisle and I am sitting next to Jack. I am looking at Mom, who is trying to sleep, and Joe is watching SpongeBob (Season 3) on Mom’s iPod. Joe is not letting Mom sleep. He keeps touching her and patting her. I feel bad for Mom, but Joe can’t help himself.

Two days ago Mom said, “Joe has been sick for 16 days.” She was definitely counting and definitely worried. He had a fever that just wouldn’t go away. I am of the “lightning can’t strike twice in the same place” school so I wasn’t as worried as Mom. I knew or was just wishing it was something that was taking a long time to go away – especially since Joe isn’t the type to necessarily lie around and let himself get better. He was pretty peppy even with 103 temperature.

He seems to be getting back to normal now. Jack caught a bit of what Joe had and I am trying my darndest not to get sick myself. Remember the time we all went up to New York and Mom was sick and you and Jack were sick and we were staying in the residence at Cornell Hospital. That was pretty miserable. Even though we are the cough-a-lot family freaking out everyone sitting near us, hopefully everyone will all be feeling better for this visit.

Mom’s up now. She only needs to nap for 15 minutes to feel good. I need at least a 3-hour nap or else I feel groggy.

Your bothers are “inconsistent communicators.” Most of the time they won’t engage in much of a conversation with me. And sometimes, infrequently, they just burst open and can’t stop talking. I never know which it is going to be. Ceaseless yapping or silence.

Nicely, and from out of nowhere, the other night Joe and I actually had a nice chat.

I don’t know how I got into it, but I told Joe all of my grandparent’s – your, Joe and Jack’s great-grandparents’ -- names. There was Grandma Bertie, or Bertha Goldberg; Grandpa Hymie, or Hyman Goldberg; Grandma Gus, or Augusta Baum – kinda like Augustus Gloop; and Grandpa Nat or Nathan Baum. I told Joe that I wanted to name each one of you Nat at some point or another. It started with you, but Mom said “no way.” I remember exactly where we were, driving down Old Georgetown Road past my nursery school (a church), when I brought it up. That name option lasted for maybe, I don’t know, less than a minute.

It was less to honor my grandfather, who I don’t remember all that well other than driving a Red Cross ambulance, and more because I like the name. Joe was definitely interested in the name because it is the nickname of the Washington National’s baseball team. He then said something that intrigued me. He said that we should have named him, “Senator.” He was talking about the old baseball team here – also nicknamed the Nats – but I was thinking how cool it would be to walk around and say, “Hi, I am Senator Goldberg,” like you were a United States Senator, one of those people who gets elected.

Joe thought a little more about it and argued that instead of “Joe,” we should have named him Ryan Zimmerman Goldberg or Alfonso Soriano Goldberg. I apologized to him for not having thought of that when he was born.

I told Joe about your great-grandparents and that I didn’t really know any of them. Gus and Nat were were Grandma Phyllis’ parents. Bertha and Hyman were Papa Teddy’s parents. I then thought it would have been funny if I called Grandpa Hymie, Papa Hyman – but that is funny just to me and high school boys.

Grandma Gus died when I was one – just like you dying when Joe was that age. I don’t remember ever knowing Grandpa Hymie. Grandpa Nat and Grandma Bertie were the ones who I remember seeing more than once. They all lived in a place in New York called Brooklyn. That is where I was born.

I have a picture of you, me and Grandma Bertie. I'll find it and put it here. Mom and we visited her once a long time ago. I may have told you how she gave me a can of soy beans when I was growing up. It was the only present I remember getting from her. She wasn’t what you would call a “warm” woman or grandmother. But she lived a long time. She was 99 when she died.

Over Thanksgiving in St. Michaels everyone (but me) talked about what we were thankful for. Here is a page that Joe did at school. He is learning to read and write. He is doing really great. I hope he is as smart as you and Jack.



At Thanksgiving dinner, Joe said he was thankful for being born, and Jack said he was too. Of course, that is that he was thankful for himself, Jack, being born, not for Joe being born. That would be too much to ask for from Jack, who still gets pretty annoyed at his annoying younger brother.

Jack then said something very quickly about how Mom and I were bummed out that when he was born he wasn’t a match for you. Mom and I looked at each other and a silent, “Where’d he get that from” look passed between us because we couldn’t figure out “Where he got that from,” and more importantly because it was totally untrue.
Mom took Jack aside at some point over the weekend to talk to him about this.

It is Saturday morning a week after I started writing to you. Now I am sitting watching Joe at a University of Maryland winter baseball camp. Mom and Jack brought Joe last night and I am with him today. We are in a big indoor practice bubble across the street from where I lived when I went to school here. My dorm was called Denton. I am remembering when you and I came here late one night after your doctor appointment in Baltimore. We went to the Student Union to get a basketball jersey but they were closed. You were a big Juan Dixon fan. We were so bummed.

Joe and I sat on a bench next to this kid named Dylan and his mom while we were waiting for the camp to start. It is pretty cold even though we are indoors, so I suggested to Joe that he and Dylan run all the way to the end of the field and back to warm up. Dylan said he didn’t want to. Joe then looked at me and said with a half-smile, “Dylan came in last yesterday.” And then he repeated it and smiled at me again.

I don’t know why he does stuff like that. He is basically a good kid and a good hearted kid but this is something that he needs to work on. He is 6 and talks “smack!”

I think talking smack and talking trash are different things. I need to look that up.

You know that it is okay to be competitive, but Joe feels like he needs to remind others that they aren’t as good as he is, whether it is the kids in his class, this guy Dylan or even Jack. Mom and I have talked to him about this a lot but he keeps doing it. Joe’s coaches repeat the same thing over and over about the proper stance for hitting or for being ready in the field. I guess we need to just keep saying the same thing about being nice to others and “worrying about him” over and over again. Repetition teaches the fundamentals.

I took Joe aside and said that while that Dylan may have “come in last,” it wasn’t a nice thing for Joe to say or bring up. I want Joe to be the kind of kid who helps other kids, not makes them feel bad.

A lot of it – at least today -- is my fault. I lied when I signed up Joe for camp. I said he was a year older than he is because you need to be 7-years old to go to the camp. Aside from doing what he loves, my thinking was that being with kids who are older, bigger and better; Joe may learn a little humility. He may have a 7-year old’s skills but he may not be “mature” enough otherwise. He has problems sitting still like the others listening to the coaches. Next year will be better.

I also know that a big part of what bugs me is that growing up I was Dylan. I was the kid coming in last.

When we’re done here I will say that to Joe and see if that helps. I'll tell you one thing -- if that is our biggest problem, we are doing okay.

We finally did find out what was wrong with Joe last month. He had pneumonia. Although he may have gotten better quicker if we knew earlier what was wrong with him, I know that in a way it was a good thing that we learned after he was getting better that it was pneumonia. Pneumonia, which I think is simply an infection that is in your lungs, is ultimately what killed you. Joe’s infection was mycoplasma, yours aspergillus.

Here are pictures of you and Jack the morning of the day you were admitted to the hospital for the first time with pneumonia.





I was here alone with you and Jack, while Mom was in New York doing IVF. You were complaining that your shoulder was hurting you (and it was your shoulder that what was bothering you again in Minnesota at the end when you had pneumonia but no-one could figure out what was wrong), and I finally took you down to Georgetown in the evening. I wonder who came over to watch Jack.

For a while it looked pretty bad for you. Mom had to choose between coming back here and seeing you before you died or staying in New York to keep trying to have a baby who would save your life. Although Mom is incredibly strong, no-one should ever have to deal with those kinds of decisions. Fortunately, you got better and Mom was able to stay in New York. Our life was pretty dramatic at times.

Here is a story about Christina Curkowskyj of Australia. She has FA, and like Amitai and Molly, she was saved by her brother who gave her new, good blood. I am glad it is working more now.

We were pretty close sweetie.

I don't know if I ever told you about another little boy named Henry who has Fanconi anemia. He lives in New York. His mommy just wrote and let us know that their new baby, Luke, is a perfect 6 out of 6 match for Henry.

Unlike us and Amitai's and Molly's parents, Henry's parents had Luke "the old fashioned way" which means without doctors helping try to make sure the baby was one who could save Henry and not have the disease.

Henry's family has been through a lot and really deserve this good news. Henry's dad was a firefighter who was at the World Trade Center buildings when they fell.



Christina smiles thanks to her little brother

Stefanie Balogh

October 02, 2007 12:00am

HER smile says it all. Nine-year-old Christina Curkowskyj wakes up and embraces every day, along the way teaching her family to do exactly the same

Christina, who has the rare and deadly genetic disease Fanconi's anaemia, was given three months to live almost five years ago after her bone marrow began failing.

Now she's a lively chatterbox in grade 3 who loves riding her new blue bicycle and is anxiously awaiting the arrival of a baby sister.

"I'm excited because I'm going to do a lot of work, to play with her -- and pick up after her toys," Christina said.

"But I can't keep her in my room."

Christina said she loves her brothers, Mykola, 7, and Thomas, 5, because they "encourage me".

In January 2003, Christina became the first Australian child with Fanconi's anaemia to survive a life-saving stem cell transplant from a perfectly matched sibling -- baby brother Thomas.

The ground-breaking transplant came more than a year after Christina's parents, Melbourne designer-baby pioneers Roman Curkowskyj and Tania Kutny, began their fight to create a genetically screened baby using IVF.

Thomas was conceived naturally while his parents were waiting for a decision that would allow doctors to screen IVF embryos to save their daughter.

He was a miraculous perfect tissue match with his sister.

The couple continued their battle and in the process helped change the rules for other Victorian families with terminally-ill children.

Mr Curkowskyj's IT job has taken the family from Melbourne to scenic Markham, on the outskirts of Toronto, Canada, where they expect to spend the next two years.

Christina has no serious illnesses, recently overcoming a tumour in her liver and facial paralysis from a brain infection last year.

She no longer has bone marrow failure, but still has Fanconi's anaemia, which leaves her susceptible to developing a range of cancers.

Christina has had more than 40 operations, including the transplant in which stem cells were taken from Thomas's cord blood and injected into Christina in the same way a blood transfusion is done.

She has also had skeletal and heart surgery.

Christina is being treated by a team of 13 specialists and goes weekly to rehabilitation clinics.

She has a teacher's aide and a nurse at school to help with her hourly tube-feeds, and at night she is fed by a machine. Despite the daily medical hurdles, Christina and her family are determined to make each day count.

"It's a good time," said Ms Kutny, 42.

"She's just overcome having the tumour in her liver.

"We got over that hurdle using Chinese medicine, because Western medicine didn't have any hope for us.

"We're out of hospital and life is good, and now we have another one on the way.

"As long as we are out of hospital we're happy.

"It's a time that you cherish.

"We go a lot to hospital for clinics and she is always afraid about: 'Am I going to stay?' "

After years of medical wards, Christina knows well the difference between being in hospital and at home.

"She lives it up," Ms Kutny said.

"She wakes up and she's like, 'It's a great day, I'm not there (in hospital), and I'm here and I'm here with my family and I've got my baby coming, (and) I've got my brothers'.

"She appreciates what she has, so she's learnt a lot too in her little life.

"From the time she was born, we appreciated that it was fragile -- life -- and we made a commitment that we would make the most of it."

Mr Curkowskyj, 44, said Christina was "the biggest gift we could ever have".

"She's taught us to live for today and to be grateful for today," he said.



Happy family: (from left) Tania Kutny, Christina, Roman Curkowskyj, Thomas and Mykola in Canada. Picture: Stuart Ramson

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.

Technology customizes kids by sex
Choice: A technique to identify healthy embryos for implantation can also be used to select gender.

By Julie Bell
Sun Staff

May 10, 2004

Darra and David Williams were running out of hope for having a baby without cystic fibrosis when they heard about technology capable of helping them select healthy embryos - as well as their child's gender.

At an Irvine, Calif., clinic, now-familiar technology was used to fertilize her eggs with his sperm. But in a Brave New World twist, doctors at Coastal Fertility Medical Center then pulled a cell from each resulting embryo to test it for defects such as the cystic fibrosis that runs in David's family, as well as for its sex. Four were healthy - three boys and a girl.

"We had one goal in mind, and that was to have a healthy baby," Darra said, and the couple decided to put all four healthy embryos in her womb. Twin boys resulted.

The Williams' clinic doesn't allow parents to use the process - pre-implantation genetic diagnosis, or PGD - solely for sex selection. But a small but increasing number of clinics and parents are making a different decision, employing technology once used exclusively to avoid disease to select the sex of their babies. In the process, they're rejecting embryos considered undesirable because of their sex.

It is only a matter of time, experts say, before PGD can be used to select embryos for other characteristics parents desire in their children, such as eye color or athletic prowess. Already, some have used PGD to choose embryos that are immune-system compatible with a sick son or daughter, thereby custom creating a child to provide a transplant for a sibling already born.

Last week, Chicago researchers published a study in the Journal of the American Medical Association showing that PGD had been used by five couples to make a baby that was a match for an older sibling in need of a stem-cell transplant.

For many, it's morally permissible to select for a child that will save the life of another, or to avoid the birth of a baby destined to suffer a slow, agonizing death from a childhood disease such as the nervous-system destroyer Tay-Sachs. Reproductive rights are the purview of doctors and patients, they say, and a matter of choice.

Besides, they point out, PGD enables parents to select embryos before they're put in the womb, avoiding what many consider a more wrenching decision - whether to have an abortion if prenatal tests show a fetus has a genetic disorder.

But for others, the trend puts America on a perilous path, one in which custom-kid technology available only to those who can afford its $12,000 to $15,000 price could change the way society values the disabled or warp our view of the worth and purpose of a child.

"We are already sliding down a slope," said Amy Laura Hall, an assistant professor of theological ethics at Duke University. "With selective reproductive technologies, parents and society are involved in a kind of negative eugenics."

Adding to critics' concerns is the fact that this latest evolution of test-tube baby technology is happening in the largely unregulated U.S. fertility industry. It's also becoming increasingly popular, even though there have been few studies looking at whether removing one cell of an embryo might damage the remaining cells and, ultimately, the child.

Nationwide, 40,687 infants were born in 2001 using all kinds of assisted reproductive technology, according to the most recent federal data. In contrast, about 1,000 babies have been born worldwide using PGD since the first clinics began using it in humans, the Washington-based Genetics & Public Policy Center estimates.

There's no question the pace of those births is quickening.

In Great Britain, the government regulates when PGD can be used. Without such regulation in the United States, some doctors look to the American Society for Reproductive Medicine for guidance. But the society hasn't taken a position on screening embryos for tissue type. It supports screening to prevent disease or to "balance" the sex makeup of a family after the birth of a first child.

The bottom line: In the United States, doctors and patients decide when to use PGD.

Fertility centers associated with the University of Maryland, the Johns Hopkins University and the Greater Baltimore Medical Center don't allow the process to be used solely for sex selection. Nor does a PGD lab affiliated with Shady Grove Fertility Center in Rockville.

"The last time I checked, sex was not a disease," said Dr. William G. Kearns, Shady Grove's PGD director, explaining why gender selection isn't allowed unless it's associated with the propensity for a disease.

But in Houston, Dr. Joe Leigh Simpson of Baylor College of Medicine said he's considering asking an ethics board there to consider a study in which families that have a child could use PGD to select the opposite sex for a subsequent child.

In the Denver area, Conceptions Women's Health and Fertility Specialists began offering PGD for family balancing after a couple with three boys came in and asked whether it would.

Fairfax, Va.-based Genetics & IVF Institute allows families to use PGD for family balancing, as well. It even offers an alternative, experimental method of sex selection that separates larger X-carrying sperm from smaller Y-carrying sperm, allowing families to fertilize eggs with sperm that will result in the desired sex. The method, now in clinical trials, avoids the issue of discarding embryos that are the "wrong" sex but is less accurate than the nearly certain PGD method.

Sharla Miller is among those who have used PGD solely to choose a child's sex. The Gillette, Wyo., resident went last year to the Fertility Institutes in Los Angeles so she could use PGD to have a daughter. She and her husband, Shane, have three sons - ages 12, 9 and 5 - and she is pregnant with twin girls due in July.

"Ethically ... it's just like any other thing," Miller said. "My choice is my choice, and their choice is their choice. I did it this way, and I don't think it's a bad decision."

Free-lance writer Jennifer Merrill Thompson of Vienna, Va., a mother of two boys who gave birth to a girl 22 months ago with the help of MicroSort, just published a how-to book on sex selection called Chasing the Gender Dream. It includes chapters on methods including diet, centrifugal sperm-spinning and PGD.

Washington resident Laurie Goldberg Strongin and her husband, Allen Goldberg, used PGD for a different purpose: to select healthy embryos that would be a tissue match for a son with lethal fanconi anemia. Though she went through nine attempts, Strongin never got embryos that where both free of disease and a match.

Her son, Henry, died in 2002 at age 7. But Strongin has continued to speak out in favor of using PGD for tissue matching, saying, "I think using science and technology to mitigate pain or to save lives is an ethical, moral use."

She is less enthusiastic about its use as a gender-selection tool. "It concerns me a little bit that they think that, 'If only we had a son or a daughter, life would be perfect,' " Strongin said. "Life isn't perfect."

The Genetics & Public Policy Center, which sponsored a January forum at which Strongin spoke, is seeking to educate the public about the science of PGD while fostering debate on its uses. The affiliated Phoebe R. Berman Bioethics Institute at the Johns Hopkins University plans another such forum Thursday and is conducting extensive surveys on the topic.

As controversial as some uses of PGD are, the technique doesn't manipulate genes. It simply allows parents to choose embryos for characteristics already present.

But genetic variations - or combinations of them - responsible for many conditions and abilities have yet to be identified. Work remains, for example, to determine why some people exhibit nerves that fire off impulses more quickly, enhancing athletic ability.

"In theory, you could say, 'I want a kid who's a sprinter: Let's insert the gene,'" said Baylor's Simpson. "But how do you know you're not going to insert it in another gene that's going to make it worse? I think it's going to be a long time before we know all the interactions on a cellular level."

Others think that future is nearer than some dare imagine.

"Designer babies are going to happen in my lifetime," Shady Grove's Kearns said. "There's no question in my mind about that. But just because we can doesn't mean we should."
--------------------------------------------------------------------------------
To learn more

What: Panel discussion on pre-implantation genetic diagnosis by the Phoebe R. Berman Bioethics Institute at Johns Hopkins University

When: 11:30 a.m. to 1:30 p.m. Thursday

Where: Baltimore Country Club, 4712 Club Road

Tickets: $45. Scholarships available.

Information: 410-516-0415

On the Web: www.dnapolicy.org


Copyright © 2004, The Baltimore Sun

I am not exactly sure why Duncan's dad says things about "an ugly, awful death."I guess he is trying to get people to support his bill. Sometimes you have to say extreme things to get people to act. I hope it works. More importantly, I hope Dr. Hughes is able to help them.

I tried hard to get our insurance company to pay for all of this but was unsuccessful. I had doctors write letters and put together briefing books. Nothing would convince them. If "Duncan's Bill" becomes law that would be a great thing for everyone.



Treatment Eyed for Youngster's Rare Disease

Jim Baron 03/29/2004

CUMBERLAND -- Looking at 8-year-old Duncan Nunes, you wouldn't think about someone at the cutting edge of genetic science.

The Community School second-grader, in the words of his father, Fred, "looks like a normal kid" who enjoys doing normal-kid things.

But inside Duncan's tiny body, the DNA in his cells is breaking down.

That process is by no means uncommon, but unlike the vast majority of people, Duncan's body can't repair itself. He was born with something called Fanconi anemia, an inherited condition that leads to bone marrow failure.

It means, among other things, that he is at great risk for contracting leukemia.

His body is not producing the red and white blood cells he needs, so that even roughhousing with his brother can leave him with bruises his sibling didn’t get.

The usual solution, Fred Nunes says, is a bone-marrow transplant, but that comes with its own set of problems. Because of his cell deterioration, Duncan can't withstand the rigors of such a transplant, which would involve chemotherapy and radiation treatments to effectively kill his immune system so the donor's marrow could regrow inside of him without rejection.

Neither of Duncan's siblings have marrow that is a match for his.

Trying a transplant with bone marrow that matches Duncan's, but is not from a direct relative, "has a high failure rate," Fred Nunes says. Seventy to 80 percent of patients receiving such treatment will die what he calls "an ugly, awful death, and pretty quickly." And those who survive are so prone to cancers and tumors that their quality of life -- for only the six-10 more years that most usually live -- is heartbreakingly difficult.

That is where the cutting edge of genetic science comes in.

Duncan and his parents are pursuing an option called IVF/PGD (in vitro fertilization/pre-implant genetic diagnosis).

The process starts like conventional in vitro fertilization, such as a couple with fertility problems would undergo. But then a test is done to see which fertilized egg would produce a baby that would be a match for Duncan. That egg would be implanted in Duncan's mother, Nancy, to carry to term.

Once the baby is born, material from the umbilical cord can be frozen and transplanted into Duncan.

The process is not cloning, Fred is quick to point out. The new baby would be a regular child in all aspects. "We will wait and see what God brings," he said.

After Nancy Nunes went through her pregnancy, there would not only be a new baby in the family, but perhaps a cure for Duncan -- what his father calls "a decent chance at a decent life."

One of the top doctors in this field, Dr. Mark Hughes of Wayne State University in Detroit, has already worked up the tests to determine which egg would produce a matched sibling for Duncan. While some facilities charge as much as $100,000 for this type of work, Hughes, who works with many Fanconi patients, is willing to do it for $2,500, Fred said.

Initially, Blue Cross/Blue Shield of Rhode Island balked at paying for the procedure.

"Blue Cross is a caring organization and has the best intentions at heart," Fred Nunes says. "But like any other large organization or institution, they have their own bureaucracy, and cutting through that bureaucracy can be difficult sometimes."

But after being turned down twice, he related, "we finally got through to the right people and, much to Blue Cross' credit, they made the right decision to cover a part of this."

While it will cover the in vitro fertilization procedure, the company doesn't want to pay for the pre-implant genetic diagnosis. Nunes said the family will pay for that procedure. "Blue Cross is not a villain in this," he emphasizes.

Fanconi anemia is rare, he said, affecting only about 150 people in the entire country, three of whom live in Rhode Island. Only a portion of those 150 would be able to take advantage of the treatment.

The only patients who can opt for this regimen are those with parents of child-bearing age.

Fred and Nancy Nunes contacted their state representative, Donald O. Reilly, asking him to submit legislation to mandate that health insurers in Rhode Island provide coverage for Fanconi anemia, "so no one else has to go through what we are going to," Fred says.

"It is an economic decision being made by insurance companies not to cover this," Reilly said.

"These are good, solid, American people," Reilly said. "They pay their insurance premiums. To have this denied to them is incomprehensible."

The bill was transferred this week to the House Finance Committee, away from the Corporations Committee, which usually handles health insurance bills. Reilly says he hopes the bill will get a hearing at which the Nunes’ can testify. Fred Nunes says he wants to testify "to put a face on the issue" for legislators before they vote.

©The Pawtucket Times 2004

Australia's biggest-selling daily newspaper

Designer Baby to Cure Brother
Zoe Taylor
08mar04

AUSTRALIA'S first "designer" baby, a boy, will be born in August.
How it works

Doctors have used a controversial IVF technique pioneered by Monash IVF scientists to ensure he will be healthy and a tissue match for brother BJ, 4, who has an incurable genetic disease.
Like Victorian toddler Christina Curkowskyj, BJ needs a bone marrow transplant to live.

His brother will provide bone marrow in stem cells collected from his umbilical cord at birth.

Christina's family fought for the right to get access to the same IVF technique, pre-implantation genetic diagnosis, in 2000.

It is already widely used in Victoria to test for life-threatening genetic disorders.

But it is illegal in this state to use it for tissue-matching to guarantee a baby can provide a sick sibling with lifesaving stem cells.

Christina's parents conceived naturally and the healthy baby was a perfect tissue match.

IVF laws are different in NSW, and Sydney doctors used the sophisticated IVF technique to create Australian medical history.

A delighted Leanne, 34, of Tasmania, is now 14 weeks pregnant with the boy who can offer BJ the gift of life.

"This was our ultimate aim, but we thought it was a bit pie in the sky stuff to begin with," she said.

"We were going to have another child anyway. We would have gone naturally and taken the risk if this had not worked."

Had Leanne and her partner, Stephen, conceived naturally, the baby could have carried or developed the rare incurable immune deficiency, hyper IgM syndrome.

The syndrome, reported in about only 30 children in Australia, leaves BJ prone to infections. He relies on weekly hospital visits for antibiotics and blood transfusions to boost his immunity.

He is responding well, so doctors are not planning to carry out a bone marrow transplant as soon as his brother is born.

"It's an insurance," Leanne said. "We are hoping that it might never need to be used, if a cure is found in time."

If BJ is still doing well in August, the baby's umbilical cord blood will be stored.

Embryos were created at Sydney IVF by fertilising Leanne's eggs with Stephen's sperm.

When they were five to six days old, cells were removed and their DNA tested. It took three cycles of IVF to create a viable embryo that was neither affected by the condition or a carrier of it – and which was a tissue match for BJ.

Stephen and Leanne, who are withholding their surname to protect their son, went to Sydney just before Christmas to have the embryo implanted.

Stephen, 35, said: "I couldn't care less what anybody thinks.

"It's not like we are having the baby just for BJ."

"I fully recognise that there will be people that don't agree with it," Leanne said.

"But we want people to know that it can be done here, and you don't have to go overseas."

Stephen said: "There was a family from Melbourne going to America for the same treatment, while we were going to Sydney."

Sydney IVF started offering PGD to find a tissue match for an existing sibling two years ago.

About seven couples have been through the program, though the child of the first family died before the mother became pregnant.

There has been only one other known case, in America, of a child being born to save another.

Adam Nash was conceived in America in 2000 to save his sister, Molly, who had a blood disorder.

When I was driving home on Friday night the weirdest thing happened. I was thinking about something I wanted to tell you and for a split second I thought about calling you at home. It was like I forgot you were dead.

Pop Pop Teddy came over for Shabbat dinner that night. At one point Mom called Joe, "Joseph." It made me think of Joseph and the Amazing Technicolor Dreamcoat and that made me think of you. I loved the way you always wanted to hear the part near the end where Joseph reveals himself to his brothers. I would fast forward the CD to Track 13, I think it was. You knew how to do it yourself.

When I wrote you the other night about how a lot of Disney movies have someone die, I had forgotten one of the reasons why. I read in a magazine this week a story about how after Walt Disney made Snow White and the Seven Dwarfs he built his mom and dad a brand new house. That was a really nice thing to do. The sad part is that there was a problem with the furnace (that is the thing that makes houses warm) and his mom died. People think that he was so sad about his mom dying that he made movies with children being separated from parents, like Dumbo. I made the mistake of playing Dumbo for you guys when Mom was up in New York doing IVF. Jack loved Dumbo but it would make him terribly sad. I think that the song "When I See and Elephant Fly" is one of the greatest songs ever.

Cartoon Network is having an Iron Giant marathon this weekend. They are playing it twelve times in a row which is fine by me. "Rock." "Tree." "Soopermaan."

On Saturday we went down to the Mall for a Walk-a-thon to Help the Homeless which Mommy's work puts together every year. We were in Minnesota last year and couldn't go.



This year we went and Pop Pop Teddy came with us. It was very warm out and thousands of people walked. We went kinda slow because Joe wanted to walk and he walks as fast as a really slow turtle, and Jack didn't want to walk, which slowed him down to as fast as a really slow turtle. It didn't matter because it was so beautiful and we got to walk by all of the monuments.





At the very end we ran into friends and then we went to Cactus Cantina for lunch. It was a close to perfect day.

Today we took Joe to see The Wiggles. Joe fell asleep in the car and we waited outside for him to get a least a half-an-hour sleep before we woke him up and took him in. He was kinda grumpy but after a while he got into it. He finally started dancing toward the end.



I think he had fun. I bet you don't remember when we went to Disney on Ice and Jack freaked out.

I miss you. We're getting close to the day you died.