Mom and I went to a movie last night. It was called, Travels with My Dad. It isn't totally finished yet or paid for, so the woman who made the movie, Jessica Gerstle, had some people watch it to make suggestions about how it might be better and how she might be able to raise money to pay for it.

The movie is about Jessica's dad, Claude. He had an accident when riding his bike and now he cannot walk or move his arms. A lot of times I wondered what life would have been like if you lived but couldn't walk or do a lot of things. This movie shows how hard life is for someone who cannot move.

Jessica and her dad are both amazing people. I am sure Jessica is proud of her dad. He is a warrior. Her dad has to be incredibly proud and thankful for a daughter like her. They are truly a beautiful family and the movie made me cry -- a lot.

Jessica wants the movie to help people understand why stem cell research is important. Some day, if they can get it to work, these cells may help people who can't walk and help people with all other sorts of problems.

You had a stem cell transplant to get your new blood. And we donated all of the embryos we created that didn't work to doctors to figure out a way not to need so many embryos to save kids like you. Those embryos have really special stem cells.

A lot of people have different ways of thinking about these special cells. It is really hard to make sure everyone is okay with what the doctors and the families want to do. We all just need to keep talking to each other, and to watch movies like the one Jessica is making so we understand how people can be helped.

Mom talked to people at Uncle Andrew's synagogue a week or two ago about all of this stuff. Here are some slides she showed.



I hadn't seen that picture of you from your heart surgery in a long time. That was pretty harsh. I just went and looked at your old website for the first time. We never updated it to say you died.

We had a Hope for Henry Board of Directors meeting on Friday. A lot of great people are helping out now. The meeting was at NAB, which is where I worked when you were born. They were nice to let us use their building.



That's you in your NAB onsie talking with Papa Sy. Wondering what you guys were discussing. You look like you were having a great time.

Mom did a presentation to let everyone know what we've been up to the past few year. I got to talk about this story that was in the newspaper the day before the meeting.

On the video that goes with the article you can see Dr. Wagner. He couldn't make the meeting 'cause he is very busy saving kid's lives. And, if you look on the bed of the kid, Nate, you can see he is being distracted/entertained by his Hope for Henry Foundation portable DVD player. How cool is that. Well done, you!

Nate is on the transplant floor at Fairview. He looks like he is in one of the end rooms, not sure if it is yours (11?) or Molly's. He has a really tough disease, but he is in the best hands possible.




Son's rare disorder leads mother to a desperate gamble

By Anita Manning, USA TODAY

MINNEAPOLIS — A little boy, 18 months old, trains his solemn brown eyes on visitors to his room here at the University of Minnesota Children's Hospital, then, after a moment, breaks into a smile.

He doesn't have a lot to smile about. His face is marked by sores and blisters. His right ear is covered with clotted blood. His right armpit bears an angry red scar. Under the bandages that cover his arms, hands, trunk, legs and feet are more scars, more blisters.



Nathanial Liao, called Nate, has a rare genetic disorder caused by lack of a protein that is needed to keep skin attached to the body. When he rubs his ear, the skin comes off. If someone lifts him from under his arms, his armpits blister. It affects skin inside his body, too. When he throws up, bits of his esophagus come up. The skin heals, but the repeated injuries leave scarring that eventually will cause his fingers and toes to web. In time, if nothing intervenes to stop his disease, he will develop an aggressive form of skin cancer. He will die young.

But now, Nate may have a chance. In a leap into the outer limits of medical knowledge, doctors on Oct. 19 transplanted bone marrow and cord blood cells from his healthy brother Julian, 3, through a catheter in Nate's chest and into his bloodstream.

Doctors hope the healthy cells will move into Nate's skin and correct the genetic defect known as epidermolysis bullosa, or EB.



EB affects about 20 of 1 million babies born, but the most severe form, recessive dystrophic EB, which affects Nate and his older brother, Jake, 4, occurs in about 2 out of 1 million births.

If the treatment works, even partially, doctors say they may be able to try it on Jake in about six months. Until Nate's transplant, it only had been tested in mice genetically altered to have EB. The affected mice have a life span of two weeks, but in experiments last year, researcher Jakub Tolar of the Blood and Marrow Transplantation program at the University of Minnesota found that three of 13 mice infused with cells from the marrow of healthy mice didn't die. Their blisters cleared up, and their skin grew the missing fibrils that anchor skin to body.

Through trial and error, Tolar had isolated the cells that produced the missing protein, known as collagen VII, and corrected the genetic mutation.

"I was stunned," says researcher Angela Christiano of Columbia University, who identified the gene for dystrophic EB. When she heard the news, she flew to Minnesota to see for herself. "The fact that any survived, three out of 13 is tremendous," she says.

Still, it is unusual to go so quickly from a small mouse experiment with a 25% success rate into a human trial. That it happened at all is due to the persistence of Theresa Liao, the boys' mother.

Both parents carry gene

Theresa, 37, and her husband, Roger, 44, an investment programmer, of Clarksburg, N.J., had never heard of EB and had no idea when their first son, Noah, was born in 1999 that they each carry the gene for it. With each pregnancy, there is a 25% risk.

Noah is healthy, but when their second son, Jacob, was born in January 2003, Theresa knew right away something was wrong.

"I said, 'There's something wrong with his feet,' " she says. "The doctors and nurses made a little wall so I couldn't see him."

Liao says experts told her all she could do was to keep Jake bandaged and comfortable for as long as possible.



"That wasn't good enough," she says, and she began a personal campaign to find researchers who would try to help and to raise money for their work.

She "was just not going to stop until she found something," says Madeline Weiner, a nurse educator in Chapel Hill, N.C., who works with the Liaos and other EB families. "She didn't just contact people, she pursued them. She didn't want to take a chance of missing an opportunity to help her children."

Theresa became pregnant with Julian, who was born in January 2005. A prenatal test showed he was healthy, and his bone marrow was a close, though not perfect, match to Jake's.

The parents decided to bank Julian's cord blood on the chance it could help Jake someday.

Then came her pregnancy with Nate. A prenatal test showed he had EB, and his marrow was a 100% match for Julian's.

By this time, Theresa had met John Wagner, head of the pediatric Blood and Marrow Transplantation Program and clinical director of the Stem Cell Institute here.

In spring 2004, he was in New York to make a speech on stem cells and had stopped in at the New York Blood Center. Theresa approached him and thrust Jake into his arms. "She said, 'Save my child,' " Wagner says. The baby "was bleeding, parts of his skin were coming off. I was really sort of shaken."

Wagner, who specializes in research on incurable diseases, says he often is contacted by desperate parents, but he couldn't forget the incident. "I came back from New York traumatized," he recalls. "I just couldn't let it go."

A chain of events had been set in motion. At a conference after that first meeting, Wagner met genetics researcher and EB expert Christiano, who told him about the mice engineered to get the disease and suggested the transplant experiment. With funds raised partly by the Liao family, Tolar began testing different types of marrow cells to see if he could correct the genetic defect in the mice.

Back in New Jersey, the Liaos were debating whether to carry on with Nate's pregnancy, grappling with the ethics of knowingly bringing a child with EB into the world.

They only had to look at Jake to know what lay ahead for the baby. Every fall, every bump means a bloody, painful new wound. Eating anything but soft foods can tear up his intestines, so he gets extra nutrients through a feeding tube implanted in his stomach. Fingers on both hands have fused because of repeated scarring. He has no toes. The full-body bandage wraps are changed every 12 hours, taking one to two hours.

Despite that, "Jacob is smart and funny, really wonderful," his mother says. The prospect of a second child with EB didn't scare her, she says. "I know what I'm dealing with."

But "my husband and I were on different spectrums" about the unborn baby, she says. "He didn't want to see him suffer. I didn't either, but at the same time, we found out that Julian and Nate were a six-out-of-six match," meaning all genetic markers match up.

Julian and Jake match four out of six. The closer the match, the lower the risk of rejection.

"Knowing we fought so hard for Jake, I felt this is the chance, this is the window of opportunity. If we threw this window away, what chance would Jake have?"

If ever there is going to be a cure for the disease, she says, someone has to go first. "God sent these boys to me for a reason. We've made it this far, and worst case, if we have a horrific result, and we have a mortality with Nate, I went down swinging. I'm not only doing this for my kids, but for everybody's kids. I did not do this lightly."

To reduce the risk that Nate's body will reject the transplant, he had to be given chemotherapy for eight days to essentially destroy his immune system.

"We have to eliminate it and then replace it," Wagner says. It's a risky procedure because "when we destroy the bone marrow, the patient is at risk for infection. He's susceptible to everything."

On that first day of chemotherapy, Wagner was nervous. He says he always is when a new, experimental treatment is about to begin. "I love what I do. But last night was a hard night, because at 4 in the morning, there's no turning back."

No guarantees

On the day of the transplant, Julian was sedated in an operating room at University of Minnesota Children's Hospital, Fairview, at 8 a.m. A doctor and nurse inserted two long needles through Julian's lower back into the bones of his pelvis and began withdrawing thick red liquid, the bone marrow containing blood stem cells. It took about half an hour to harvest 250 cubic centimeters, about a cup, of marrow. The liquid was processed to isolate the stem cells that would be infused into Nate that afternoon, along with the cord blood cells that had been frozen at Julian's birth.

"We know the cell responsible for correcting the (defect) is at least in marrow," Wagner says. "It may also be in cord blood. So that's the reason we're doing both."

He says there are no guarantees the transplant will cure or help Nate. "I've showed proof of principle this could work in an animal model, not in humans."

Wagner says Liao understands "it's possible Nate may not survive the next 100 days," but "she is also aware that if we don't do something, it will be a very difficult and shorter life for him."

The experiment also may point researchers toward treatments for other diseases.

"EB is a rare disease," Tolar says, "and in the history of biology and medicine, many cures start with a rare disease that then extends to others."

Whatever the outcome, Liao says the ordeal is worthwhile because something important will have been learned, some scientific advance toward a cure will have been made.

The strain of the treatment and being far from home is hard on all of them, she says. "But this is nothing compared to one day of EB."

Nate is expected to stay at the hospital for about three months. His doctors say he is doing well so far and improving a little each day.

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

U stem cell research raises new questions

Journal says one image apparently used in patent for three discoveries

BY JEREMY OLSON Pioneer PressTwinCities.com-Pioneer Press

The accuracy of pioneering adult stem cell research at the University of Minnesota is under scrutiny again, as a scientific journal is questioning whether U researchers used a single image of a protein to represent three different scientific discoveries.

The university is investigating, said Tim Mulcahy, the U's vice president for research. However, he said nothing so far has erased the U researchers' original findings that a certain kind of adult stem cell can produce multiple types of cells, proteins and tissues in the body and holds extraordinary potential for future treatments.

"There's no reason to think any differently about the work up until this point in time," he said, though the scientific community will make the ultimate determination.
This is the U's second inquiry in the past year regarding potential flaws in the stem cell research.
The latest concerns focus on a 2001 article in the medical journal Blood and a patent application, approved in 2006, related to the stem cell discoveries. Images in both documents are offered as proof that U researchers used the stem cells, derived from adult bone marrow, to create different types of proteins. But close inspection suggests the images are all of the same protein, not different ones, according to an article New Scientist published Wednesday.

While the magazine seems to hint that someone deliberately misrepresented the data, there is no evidence to support that conclusion, Mulcahy said.

"The university is going to conduct an objective, comprehensive review but we have no evidence at this point of any wrongdoing. We have to let the process go forward and await a conclusion from the investigation."

The stakes for resolving these errors are high for the U, which built its reputation as a powerhouse of stem cell research upon Dr. Catherine Verfaillie's initial discoveries in 2002. Until then, it appeared only stem cells from human embryos were capable of producing all of the different cells and proteins in the body. Verfaillie's research suggested these special stem cells, or multipotent adult progenitor cells (MAPCs), from adult bone marrow could be reprogrammed to produce multiple cell types as well.

The discovery had political ramifications, giving hope to people who opposed embryonic stem cell use on the grounds they were derived from the destruction of human embryos. They often cite Verfaillie's research as part of their proof that embryonic research is unnecessary.

The U has already acknowledged a similar error in which stem cell data for a study published in Nature in 2002 was also published in Experimental Hematology, even though the latter article dealt with an entirely different experiment.

In February 2006, New Scientist brought initial concerns about that duplicate data in the two journals to Verfaillie, who then informed U leaders. In August, an expert committee validated the concerns but concluded they were honest mistakes. However, the reviewers found separate problems in the process the researchers used to identify the MAPC cells, calling the process "significantly flawed."

Subsequent reviews by two stem cell experts have determined that these flaws had no impact on the Experimental Hematology study but may have weakened conclusions published in Nature. Verfaillie has written letters to the two journals about the problems with the research, and at least one plans to publish her explanation.

Beyond the errors, Verfaillie's research has generated controversy because other scientists have had difficulty repeating her results, even when they traveled to the U to copy her team's methods. That difficulty is what drew the curiosity of New Scientist reporters in the first place.
Verfaillie is now at the Catholic University of Leuven in Belgium but remains on the U faculty and active in its stem cell research. She recently authored a stem cell paper along with an influential skeptic, Dr. Irving Weissman of Stanford University, showing that these stem cells could create all types of blood cells. However, the research didn't affirm the U's earlier claim that the stem cells could create other cells and tissues outside of the blood system.

The U is continuing plans to use MAPC cells in clinical trials, Mulcahy said, because those plans are based on progress with MAPC cells at numerous institutions. Initial trials will likely test the cells in patients with Fanconi anemia, a genetic disorder that can cause leukemia and is often fatal.

Jeremy Olson can be reached at jolson@pioneerpress.com or 651-228-5583.

This study was just published by University of Minnesota. I think what it means is they are having success with transplants that don't pretreat the patients with radiation. Remember how you had to go into that room where no-one else could go and sit so still. Most kids your age needed to be sedated. You listened to music. You were the youngest kid ever to have TBI there without anesthesia.

The radiation really messes you up. Especially if you have FA 'cause your cells are so fragile to start with. This is good news for other kids needing transplant. I wish they had learned it earlier.

Fludarabine-based regimen without irradiation is effective in patients with Fanconi anemia who are undergoing HLA-matched related donor hematopoietic cell transplantation.

According to a recently published report from the United States, "To potentially reduce late effects of malignancy, chronic graft-versus-host disease (GVHD), endocrinopathy, and infertility in patients with Fanconi anemia (FA) undergoing HLA-matched related donor hematopoietic cell transplantation (HCT), we developed a regimen using fludarabine (FLU), cyclophosphamide (CY), and antithymocyte globulin (ATG) followed by infusion of T-cell depleted (TCD) bone marrow (BM) or unmanipulated umbilical cord blood (UCB).

"GVHD prophylaxis consisted of cyclosporine and short Course methylprednisolone. Between April 2000 and June 2003, 11 patients (10 aplastic anemia (AA), 1 myelodysplastic syndrome (MDS)) underwent HCT using this regimen. Stem cell sources were BM and UCB in eight and three patients, respectively."

"All patients demonstrated primary engraftment. Median clays to neutrophil and platelet engraftment were 11 days (range 9-21) and 38 days (range 19-381), respectively.

"No patient developed GVHD after primary HCT. The patient with MDS relapsed with AML and a maternal donor recipient experienced secondary graft failure," reported P.L. Tan and colleagues at the University of Minnesota.

The authors continued, "For the nine FA patients with AA who underwent HLA-identical sibling donor HCT, the Kaplan-Meier estimates of overall survival and event-free survival (EFS) at 2 years are 100 and 82%, respectively, at a median follow-up of 2.9 years (range 1.9-4.8)."

"A FLU-based, nonirradiation approach is effective for FA patients with AA Undergoing HLA-identical sibling donor HCT," Tan concluded.

Tan and colleagues published their study in Pediatric Blood & Cancer (Successful engraftment without radiation after fludarabine-based regimen in Fanconi anemia patients undergoing genotypically identical donor hematopoietic cell transplantation. Pediatr Blood Cancer, 2006;46(5):630-636).

For additional information, contact P.L. Tan, University of Minnesota, Dept. Pediatrics, Blood & Marrow Transplant Program, MMC 484, 420 Delaware St. SE, Minneapolis, MN 55455, USA.

Dr. Wagner came to town yesterday and we went with him up to the Senate. They had a hearing about stem cell research.

I read this story in the newspaper this morning. You are the patient they are talking about; you had HSCT, GVHD and IFI. It was Aspergillus that ultimately killed you.



This is the photo that was in the news story. It must be Aspergillus. It is weird to see what the fungus that killed you really looks like. I guess it exploded all through your body when you had sepsis.

But nothing is ever as simple as it seems. They were probably testing the medicine mentioned in the story way back when you had GVHD. It takes a long time to get a new drug approved. Maybe they even tried it on you. I don't remember anymore. Who knows.

All your doctors will be in town next month for a Fanconi anemia scientific meeting, and I should see them then. I signed up to go. Not exactly sure why, but it is good to stay connected. I guess I will ask Dr. Gillio or Dr. Wagner about this when/if I see them.

Dr. Hughes is here in Washington this week for a conference. Mom was invited to go to that but I am not sure she is going to make it. We heard some good news from a family he is helping whose kid has Fanconi. Hopefully everything will work out okay. I am keeping my fingers crossed.

Even though I am probably thinking too simplistic about this Noxafil thing - I still am not feeling too good right now. It all comes down to timing. Bad timing in our case. Clearly, you were born and transplanted (and died) too early.

I was thinking if I wrote a book it would be called "Everything Leads Back to You." There are obvious things like this story and on Sunday when I went to an event and saw your old pediatrician, Giorgio Kulp, and then some rabbi talked about someone who needed a bone marrow transplant (he was telling a story about Jay Feinberg, who not only lived but was very helpful when we were looking for a match for you), but also things that I see or experience everyday that seem totally unrelated to you. But to me they trigger a memory that leads back to you.

I like that. Not a day goes by without thinking about you. A picture of the two of us is on my nightable next to my lamp, so your face is the last thing I see before I turn out the light.

Noxafil Treats Invasive Fungal Infections

Schering-Plough Corporation today reported that the U.S. Food and Drug Administration (FDA) has approved NOXAFIL(R) (posaconazole) Oral Suspension for prophylaxis (prevention) of invasive Aspergillus and Candida infections in patients 13 years of age and older who are at high risk of developing these infections due to being severely immunocompromised, such as hematopoietic stem cell transplant (HSCT) recipients with graft-versus-host disease (GVHD) or those with hematologic malignancies with prolonged neutropenia from chemotherapy. NOXAFIL is the first and only antifungal agent approved by FDA for the prevention of invasive fungal infections (IFIs) caused by Aspergillus species.

Invasive fungal infections most often occur in people who are immunocompromised or immunosuppressed, and are increasingly caused by moulds such as Aspergillus. IFIs are a leading cause of death in these high-risk populations. Patients undergoing hematopoietic stem cell transplant or chemotherapy for hematological malignancies such as acute myelogenous leukemia (AML) or myelodysplastic syndromes (MDS) who develop IFIs have a high mortality rate of 60-90 percent.(1)

The NOXAFIL approval is based on results of two head-to-head randomized clinical studies, the largest prophylaxis studies conducted to date in these high-risk patient populations. A total of more than 1,200 patients were enrolled in these studies, which demonstrated substantially fewer breakthrough Aspergillus infections in these patients. In high-risk neutropenic patients, prophylaxis with NOXAFIL was associated with decreased all cause mortality versus the comparator drugs.

"NOXAFIL can help prevent patients from developing life-threatening invasive fungal infections while being treated for serious conditions, such as acute leukemia or graft-versus-host disease," said John Perfect, M.D., Professor, Department of Medicine, Division of Infectious Diseases, and Director, Duke University Mycology Research Unit. "With this FDA approval, NOXAFIL offers physicians an important new therapeutic option for preventing invasive fungal infections in patients at high risk," he said.

"We are very pleased with today's FDA action and what it means for critically ill patients who are at high-risk for acquiring these fungal infections," said Robert J. Spiegel, M.D., chief medical officer and senior vice president, Schering-Plough Research Institute. "The approval of NOXAFIL, a product discovered and developed by Schering-Plough, reinforces our ongoing commitment to improving treatment options for patients facing life-threatening diseases."

Noxafil Treats Invasive Fungal Infections
09.18.06, 12:00 AM ET

MONDAY, Sept. 18 (HealthDay News) -- A new molecular drug designed to prevent fungal infections in post-surgical patients and others with weaker immune systems has been approved by the U.S. Food and Drug Administration.

Schering Corp.'s Noxafil (posaconazole) contains a substance that has never before been approved in the United States, the FDA said in a statement. The drug was approved to prevent infections caused by certain molds and yeast-like fungi called Aspergillus and Candida.
While people with healthy immune systems are normally unaffected by these fungi, they tend to cause invasive infections in people who have had bone-marrow transplants and people with low white blood cell counts, the agency said.

Noxafil's safety and effectiveness were evaluated in clinical trials involving 1,844 people between ages 13 and 82. Common side effects included nausea, vomiting, diarrhea, rash, a drop in blood potassium levels, and in rare cases, problems with heart or liver function.

The drug should be taken with a full meal to allow for adequate absorption into the body, the FDA said.

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.

May 23, 2006 Tuesday

U.S. REPRESENTATIVE NANCY PELOSI (D-CA), HOUSE MINORITY LEADER, DELIVERS REMARKS ON STEM CELL RESEARCH

REPRESENTATIVE PELOSI DELIVERS REMARKS ON STEM CELL RESEARCH,
AS RELEASED BY THE HOUSE MINORITY LEADER'S OFFICE

MAY 23, 2006

SPEAKER: U.S. REPRESENTATIVE NANCY PELOSI (D-CA),
HOUSE MINORITY LEADER

PELOSI: Tomorrow, we will observe the one-year anniversary of the passage of the Stem Cell Research Enhancement Act of 2005. The champion for that act is with us here today, Congresswoman Diana DeGette of Colorado.

The stem cell research that Congresswoman DeGette has championed has the power to cure. Every family in America is one telephone call or one diagnosis away from needing this critical research. We are hoping as we observe this one-year anniversary of the bill's passage in the House that the Senate will take action to send the bill to the President's desk and give hope to the American people. It is what Americans want in overwhelming numbers. It is about good solid science, good ethical guidelines, and about keeping Americans healthy.

We are bound together today around a picture of Henry and his parents, Laurie Stongin and Allen Goldberg, who will tell their story. But Henry's time with his loving parents was cut far too short. Because of a genetic disease called Fanconi anemia, Henry passed away in 2002, at just 7 years old. It is in tribute to Henry and so many others that stem cell research has the power to cure that we hope this bill will be passed.

Copyright 2006 Congressional Quarterly, Inc.

Mommy and I went up to Capitol Hill yesterday to talk to a very important congresswoman, Rep. Nancy Pelosi, and people from newspapers and tv stations about the need for the government to support research that can help other families with Fanconi anemia.



We carried a picture of you, which Congresswoman Pelosi held throughout the press conference.

Mom was amazing. She spoke to the reporters and told them that we can't let any more kids like you die. If we spend more money for the right things we can save lives. Mom was very eloquent. You would have been proud of her. I was.

The congresswoman said that it was very nice of us to stay involved after your death. She said that so many families just "check out."

I told her that I like to "keep the wound open," and that what better legacy for you than to help save the lives of other kids. Hey, guess what. Kathy Fiorello told Mom that someone who signed up to be a bone marrow donor at one of your drives just donated marrow for someone's transplant. The way I do math means that there is one more life you have saved.

I also explained to Rep. Pelosi that there is one family that I can think of that seemed to check out. The President's family. I don't know how the President can oppose spending money on research when his sister died of Leukemia. I said to her that "letting your family experience inform your decision making is not a sign of weakness." The President is busy listening to the wrong people and not his heart.

I was at lunch with the President's other sister on Sunday. She is sitting a table behind me.



It wasn't the right time to talk to her about all of this, but I wonder how she feels.


DeGette's stem cell bill stuck
A year after success seemed assured, vote in Senate stalls

By M.E. Sprengelmeyer, Rocky Mountain News

May 24, 2006

WASHINGTON - One year ago today, champagne flowed and glasses were raised in Rep. Diana DeGette's Capitol Hill office to toast a hard-fought win for legislation expanding embryonic stem cell research.

The next morning, DeGette and lead co-sponsor, Rep. Mike Castle, R-Del., tied their legislation in a big, red bow and delivered it to senators who vowed to win swift, final passage.

"Get it done," DeGette told them.

But one year later, nothing has been done. The bill still hasn't moved, as senators struggle to reach an agreement on how to proceed.

Backers' frustration has been building. So on Tuesday, DeGette and her allies marked the anniversary of what has turned into a hollow victory.

"This job needs to get done," DeGette said in an interview. "The research has been put back by five years."

Supporters of embryonic stem cell research say it holds great promise in finding cures for diabetes, multiple sclerosis and other crippling diseases. But they say it has been held back by President Bush's decision to limit federally funded research to the limited number of stem cell lines that were available shortly after he took office in 2001.

The DeGette-Castle bill would greatly expand federal research on leftover embryos from fertility clinics, while also enacting ethical standards meant, in part, to prevent embryos from being created for profit.

That has not satisfied opponents, however, particularly religious conservatives. They equate experimentation on embryos to the destruction of human life and claim promises of medical breakthroughs are nothing but "science fiction."

"I know there's a huge press coming from media sources, from certain ends of the pharmaceutical- experimentation gang, and outrageous claims being made for therapy which remains unproven 20 years after it was begun," said Paul Schenck, director of the National Pro-Life Action Center.

Schenck warned that if Senate Majority Leader Bill Frist, R-Tenn., a physician and likely 2008 presidential candidate, finally does bring DeGette's bill up for a vote, "he'd certainly lose the Catholic, evangelical, conservative religious support he'd hope to have."

Those types of election-year considerations are in the background as supporters of the bill hope for a Senate breakthrough this summer.

On Tuesday, DeGette led a parade of lawmakers who marked their yearlong wait with a series of fiery floor speeches.

DeGette cited Frist's comments last summer publicly backing some type of expanded research and promising to schedule a vote.

"At that point, it appeared the hopes of so many patients and caregivers would finally be realized," DeGette told colleagues.

"Unfortunately, Mr. Speaker, that's the last we heard of this bill."

In the Senate, DeGette said, "they've proceeded to work on numerous other bills, including the designation of 46 post offices, but they have refused to put patients first."

DeGette and House Majority Leader Nancy Pelosi, D-Calif., met with Allen Goldberg and Laurie Strongin, who have used the death of their 7-year-old son, Henry, as a rallying cry for expanded research.

Henry was born in 1995 with a rare genetic disease, Fanconi anemia, which caused his bone marrow to fail to produce blood cells.

The couple had a second child whom they hoped could donate stem cells to reverse Henry's condition. But the child turned out not to be a suitable match and Henry died in 2002. The couple sees expanded embryonic stem cell research as critical for families like theirs.

"We feel with every further delay, more and more children are dying from diseases that could be helped with this research," Strongin said in an interview.

Her husband turned to DeGette at one point and said, "Please make it happen."

Even if the Senate approves DeGette's legislation, President Bush has threatened to use his first-ever veto to block it. But backers hope he will heed public opinion polls and back off the threat, particularly in an election year.

"The fact that a year has passed and the Senate has not taken action is crystallizing the issue and making it an election issue," DeGette said.

It already has surfaced in congressional races around the country, and the Democratic Congressional Campaign Committee is expected to target Republican congressional candidates who would block expanded research.

Schenck predicts the bill will eventually be considered, but he projects a different kind of political fallout if it passes.

"What we'll have is a battle in the election season," he said. "Do those who believe in trading some innocent human beings for the comfort and health of others win out? Or will those who (oppose) the destruction of life win out? That remains to be seen."


Pelosi Urges Senate to Act on House Passed Stem Cell Research Enhancement Act

5/23/2006 7:07:00 PM


--------------------------------------------------------

To: National Desk

Contact: Brendan Daly or Jennifer Crider, 202-226-7616, both of the Office of House Democratic Leader Nancy Pelosi

WASHINGTON, May 23 /U.S. Newswire/ -- House Democratic Leader Nancy Pelosi and Congresswoman Diana DeGette of Colorado joined Allen Goldberg and Laurie Strongin, founders of Hope for Henry, an organization that works to improve the life of children with threatening illnesses, to urge the Senate to pass the Stem Cell Research Enhancement Act. Below are Pelosi's remarks:

"Tomorrow, we will observe the one-year anniversary of the passage of the Stem Cell Research Enhancement Act of 2005. The champion for that act is with us here today, Congresswoman Diana DeGette of Colorado.

"The stem cell research that Congresswoman DeGette has championed has the power to cure. Every family in America is one telephone call or one diagnosis away from needing this critical research. We are hoping as we observe this one-year anniversary of the bill's passage in the House that the Senate will take action to send the bill to the President's desk and give hope to the American people. It is what Americans want in overwhelming numbers. It is about good solid science, good ethical guidelines, and about keeping Americans healthy.

"We are bound together today around a picture of Henry and his parents, Laurie Stongin and Allen Goldberg, who will tell their story. But Henry's time with his loving parents was cut far too short. Because of a genetic disease called Fanconi anemia, Henry passed away in 2002, at just 7 years old. It is in tribute to Henry and so many others that stem cell research has the power to cure that we hope this bill will be passed."

http://www.usnewswire.com/

This is very cool. I should get to work on that bike ride for Hope for Henry that I said I want to plan.



Fanconi anemia killed her son, Jake. Now she's driven to save others

Monday, February 06, 2006

ANDY DWORKIN
The Oregonian

When Jake Shearer was diagnosed with Fanconi anemia three years ago, his family had never heard of the rare disease.

They learned there is no cure for the genetic illness, which affects perhaps 500 U.S. families, at least seven in Oregon.

And the family could not find a perfectly matched marrow donor to offer a stem-cell transplant, the best treatment for the illness. After months of looking, Jake got an imperfectly matched transplant. But he died several months later, in October 2003.

Now Jake's mother, Portland resident Peggy Padden, wants to help erase the obstacles her family faced after his diagnosis. For the second consecutive year, she has organized a walk and run around Valentine's Day to raise money for the Eugene-based Fanconi Anemia Research Fund. She hopes the event Sunday will educate people about the disease and support research into better treatments, including gene therapy.

The fundraiser includes a drive to register new marrow donors, increasing the odds for patients to find a perfect match. That could help people facing a wide variety of diseases treatable with marrow donations.

The drive could also help her youngest son, Spencer. The 18-year-old Grant High School senior also has Fanconi anemia. He's very healthy now. But Fanconi anemia is a relentless disease, and he probably will need a transplant one day.

"We want to keep looking to find a match for him and other people," Padden said. "Most of us have decided to donate our organs when we die to save someone's life. And with the bone marrow registry, hopefully you can save someone's life while you're alive."

Most patients die young

Fanconi anemia is a failure of one of the body's basic systems for repairing strands of DNA, which commonly break as cells divide. That causes the bone marrow to stop making new blood cells, greatly increases a person's risk for cancer and sometimes causes birth defects. Most patients die by their 20s.

The disease strikes people who inherit flawed copies of a Fanconi gene from each parent. In the past 14 years, scientists have found 11 different genes whose mutations can cause the disease -- one of which is identical to BRCA2, a gene linked to breast cancer.

Much of that research was at least partly funded by the Eugene-based research fund, started in 1989 by University of Oregon President David Frohnmayer and his wife, Lynn. Two of the couple's daughters died of the disease, Katie in 1991 and Kirsten in 1997. Their third daughter, Amy, 18, has the disease.

"I remember reading about them" years ago, Padden said. "I just couldn't imagine anything worse, especially two children."

The Eugene foundation is funded largely by donations raised by the Frohnmayers and other families with Fanconi anemia, Executive Director Mary Ellen Eiler said.

Last year, more than 140 families nationwide held golf tournaments, casino nights, auctions and other fundraisers, she said. Most of those events raise $500 to $5,000. So Padden's first 5K last year, which raised $12,000, represents a large amount of money for the fund, Eiler said.

Padden said she planned last year's run in just six weeks. Still, the event drew 235 people -- a number she hopes to top this year. An elementary school teacher, Padden has started working half time, freeing up hours to raise awareness and funds for Fanconi anemia research. She gets help from her husband, Glen Shearer, and from Spencer and her middle son, Conor, who does not have Fanconi anemia.

Padden hopes to expand the race to other cities in coming years, like the Race for the Cure, which benefits breast cancer research. With Fanconi science advancing rapidly, she said, "Research is where our hope is. . . . Gene therapy is our absolute dream."

Treatment ideas offer hope

Gene therapy probably can't fix every problem with Fanconi anemia, including cancer risk. But scientists think they might be able to use genetic treatments to prevent or fix bone marrow failure, the disease's main cause of death. Now, a transplant is the main treatment for marrow failure. And the transplants are risky, especially without a perfect marrow match.

For a brief, exciting time, Shearer's family had a perfect match for Jake: his brother Spencer. Only when doctors started testing Spencer further did they find low blood counts, leading to his diagnosis.

"It was really pretty hard to believe," Spencer said. "It was more hard with my brother than me."

Spencer said he feels good now, and rarely thinks about his illness -- mostly when he goes for blood tests every few months. He is finishing high school and looking forward to college, hopefully at the University of Oregon or the University of Hawaii.

Jake was studying computer science and fine arts at Carroll College, in Helena, Mont., when he grew ill, Padden said. He was engaged to be married and had recently started running.

"He was just an absolutely wonderful person. He loved life. He was interested in just about everything. He was happy, kind, curious," Padden said.

She thinks the fundraiser would make him proud.

"I know he sees what's going on," she said. "He would say, 'Oh, cool.' "

Andy Dworkin: 503-221-8239; andydworkin@news.oregonian.com

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.'"