To save her sons life, Donna is considering having another child by IVF so its stem cells can be used as a treatment for her dying son.

Fanconi anemia is the rare blood disorder the Jamie, Donna’s son, suffers from.

The disorder is caused by the hereditary loss of both copies of the Fanconi anemia gene.

A birth rate of about one in every 360,000 is approximated due to the carrier frequency being estimated at around one in every 300 people.

The name of the disorder comes from Guido Fanconi, who was the Swiss pediatrician who discovered it.

Only a perfect match from a bone marrow donor will provide Jamie with a chance to survive.

Since April of last year, when Jamie was diagnosed, the Great Ormond Street Hospital (GOSH) has been searching for a donor for the eight-year-old boy.

Donna learned from the staff at GOSH that IVF may be an option.

IVF would allow Donna to conceive with an embryo that does not carry the faulty Fanconi gene.

The newborn would then have stem cells harvested from its umbilical cord and injected into Jamie.

“I want to speed up the process for him and the best chance of finding a perfect match would be to have another child,” said Donna, who is already a mother of four.

“I have been informed in most cases such as mine, where there is more than one child, I will be declined IVF treatment as I have other children and it would be unethical to bring another child into the world,” she added.

“I cannot understand this. I can appreciate the ethics surrounding these issues but the ultimate goal is to save someone’s life, knowing treatment is available, instead of giving someone a life sentence,” stated Donna.

Those suffering from Fanconi anemia, cannot successfully combat, fatigue, bleeding, infections, or spontaneous hemorrhaging.

People with the condition are also born with skeletal abnormalities.

Those diagnosed also have an increased risk of getting cancer and other serious health problems throughout their lifetime.

The syndrome is less common in females as opposed to males and most individuals suffering from the condition only live until their mid-20s.

Regular transfusions and steroids keep Jamie’s blood counts stable. But Donna says that his body is less likely to accept the bone marrow that longer he continues with the conventional treatments.

Since a baby conceived through IVF would be a last resort option, Donna wants people to sign up to the Anthony Nolan Trust’s bone marrow register to see if they are a perfect match.

“As Jamie’s mother I want to help him. And GOSH told me that I should not lose hope,” stated Donna.

“Unfortunately, I cannot donate my bone marrow as my husband and I are carriers of the faulty Fanconi gene.”

“It has come to the point now where I just want to speed the process up on the donor search by doing something myself, which I why have contacted News Shopper.”

“If I can encourage people to consider donating blood or becoming a bone marrow donor, I would feel as if I have achieved something.”

Cathy and her husband Billy decided to spend $1,700 to preserve their baby’s umbilical-cord blood when she was expecting with her fifth child. Billy works in his parent’s seafood restaurant and Cathy is a stay-at-home mom–so spending for them is not easy. But the Manassas couple wanted the security of knowing that the blood–loaded with stem cells–would be on hand if any of their children ever got sick.

Cord blood can be an expensive and unusable form of health insurance, but can also be an extraordinary means for treating serious medical conditions.

In this case, the blood has become a source of hope for the family.

Born with severe brain damage, their baby Abby went without oxygen for a time in the womb. The stem cells have given Abby’s family a promising tool for restoring her neurological functioning. Since her birth two years ago, with exciting but uncertain results, Abby has received two infusions of her own cord blood.

“If it doesn’t work, we’ve lost money. So what?” Cathy said. “But if it can improve her life, then it’s worth every cent.”

Although an increasingly common occurrence in American delivery rooms, preserving cord blood for a family is still not the rule. Without the ethical concerns of embryonic stem cells and all the promise, new born stem cells from cord blood and their storage have gained popularity. A few distinguished physicians also encourage the idea. Stem cells can enhance immune systems during cancer treatment, treat brain injuries and sickle cell anemia, they also have the potential to treat an assortment of other conditions.

But as Abby’s family has learned, the course from preserving cord blood to using it as treatment is scattered with obstacles as well as hope.

Dr. Bob at first thought cord-blood banking was a contrivance. But his wife read about it while pregnant with their third child. She was also a teenage cancer survivor and was convinced they should bank their child’s blood. After doing some research, Bob was persuaded as well.

Now Dr. Bob has written about cord-blood preservation on his website and has contributed to this story by phone from his California home.

“There’s so much research right now showing cord blood will treat very common childhood and adult diseases,” said Dr. Bob, who is a Pediatrician.

Because stem cells are immature the treatment possibilities are broad.

“They can change and grow into any kind of body tissue that they need to,” Dr. Bob said.

Dr. Bob said that collecting and storing the blood is not complicated. A doctor or midwife extracts the blood with a syringe after a baby’s umbilical cord is cut. Then the blood is put into a vial for the parents–or a medical courier–to ship off to a cord-blood company’s storage site.

Dr. Bob and Cathy noted that much of the moral, religious, and ethical, debates surrounding embryonic stem cells are eliminated with this procedure. Cord-blood collection involves no potential loss of human life.

“Every baby has a nice full-size unit of stem cells just sitting in the umbilical cord ready to be collected,” Dr. Bob said.

Private cord-blood banks currently dot the country with more than two dozen. Families can donate without a fee to public banks as well, but they do so with the knowledge that their child’s stem cells may be used for research or to help others.

Rita, who is a manager with one of the private firms, said that more than 450,000 cord-blood samples are stored in banks around the country; in Virginia, roughly 4,000 families have stored stem cells with the private firm Rita works for.

“There has been a definite increase in new clients,” she said in an e-mail.

Due to give birth to her second child in October, one of the new clients is Angie of Spotsylvania County. Angie said she paid $1,750 in her second trimester and will pay $125 annually in storage fees to preserve her baby’s blood.

“I’m sure we waste that in a year going out to Starbucks,” Angie said.

A health scare several years ago involving her older child Edward helped to convince her that storing her baby’s cord blood was the right decision.

“If something ever happened, I would have resources,” Angie said. “That’s something I didn’t have with my son.

Pregnant patients learn about the option at Mary Washington Hospital where Judy, coordinator of parent-child education services, informs them of the option.

“The more I learn about it, the more impressed I am,” Judy said.

Still, the cost is prohibitive to many. And a level of discomfort still remains associated with it. Many families assume that conventional therapies could treat them if they got sick and that they would never need the cord blood.

As for Abby’s family, they think their story shows just how valuable the cord-blood investment can be.

“Only one in a thousand ever needs it,” Cathy said, speculating on the odds. “Will, you be that one?”

‘The Gift of Hope’

Cathy was sold when she saw a segment on “Oprah” about cord-blood banking.

It never occurred to her that her baby would need the blood for herself. Putting aside some of their fifth child’s blood in case any of the other four got sick was what she was banking on, or so she figured.

Abby, who was born 10 days late, had a preliminary Apgar score of zero. The Apgar measures a newborn baby’s wellness. Her score later jumped to seven. Not terribly uncommon, she had a bowel movement in utero. But if newborns inhale the tar-like substance, oxygen deprivation and other serious problems can occur.

“Most kids just get it in their mouth,” Cathy said. “Abby got it in her lungs.”

It’s not clear how long she was oxygen-deprived. Abby was monitored at the hospital for two weeks. But an MRI a few months later confirmed that in three of her four lobes she had suffered moderate to severe brain damage. Doctors said she had microcephaly–a small head due to lack of oxygen.

“Her outcome, they said, would be abnormal,” Cathy said.

Cathy asked if Abby’s cord blood could help and the doctors told her no. But an e-mail from their cord blood bank publicizing advances using cord blood to repair neurological and spinal-cord damage gave the family renewed hope. The families Google search began as they looked for a doctor with expertise in cord-blood transplantation. Every hospital Cathy contacted about Abby’s transplant said that it was no use and the cord blood would not be able to help their daughter.

“You have a lot of naysayers out there that need cold, hard facts,” she said. “But the way I see it is if there’s a small chance to help your child have a better quality of life, why not do it?”

A professor of pediatrics at Duke University with a specialty in stem-cell transplantation eventually came up in their search, and the family contacted Dr. Joanne.

Cathy asked Dr. Joanne if she would transplant Abby’s stem cells. After several exchanges, mostly by e-mail, she got the answer she’d hoped for.

Abby’s stem cells were sent to Duke at the doctor’s request.

Two transplants have taken place in Durham, the first when Abby was 6 months old and the second more recently. Abby turned 2 on September 9th.

Each transplant is a costly $10,000, and insurance does not cover the experimental procedures. Despite the cost, the procedure is quite simple: an infusion of her cord blood is sent through an IV in Abby’s hand.

Abby’s first infusion was paid for with money raised by friends at All Saints Catholic School in Manassas, and Abby’s parents refinanced their home to pay for the second. Another infusion in two years is probable.

“You’ve got to do whatever it takes for your kids,” Abby’s father Billy said.

Dr. Joanne cautioned the family and continues to do so, telling them to keep their expectations low.

“Dr. Joanne said you have to expect nothing will happen. This is not a cure,” she said. “But what she gave us was the gift of hope. I can look at Abby and say, ‘Baby girl, we did everything we could to help you.'”

And Cathy and Billy are certain the procedures have helped.

“She’s definitely making progress,” Billy said.

Abby wouldn’t lock eyes with anyone, and she couldn’t focus her gaze, prior to the first infusion

“She was literally like Stevie Wonder, with her head left to right, left to right,” Cathy said.

But two weeks after the first transplant, Cathy said, Abby looked straight at her during a bath and smiled.

“I was like, ‘Oh my God, she sees me!'” she said. “I was just hysterical.”

Abby is scheduled to have an MRI tomorrow. Cathy said Dr. Joanne has cautioned that even if the scan shows improvement, it doesn’t mean the stem-cell transplants worked.

Whatever the scan shows, Abby’s family is grateful that she has undergone the procedures.

“She wasn’t getting better before,” Cathy said. “There’s no ‘proof,’ but I have all the proof I need.”

Abby’s visual therapist, Peggy, said she’s uncertain if Abby’s development can be attributed exclusively to the cord-blood transfusions. But along with the more conventional therapy Abby’s family has done, she find it likely that the cord blood is a contributing factor.

“The combination has really gone a long way in making progress in that little girl’s life,” Chenoweth said.

Abby, who turned 2 yesterday, doesn’t do a lot of the things most kids her age do. But she blows raspberries, gets around with a walker and makes eye contact.

“These seem like very small steps for a lot of people, but they’re hurdles for Abby,” her mother said. “I would love to see my daughter just run around and be fine, and I pray for that. But if not, it’s OK. We’ve done everything.”

With the hopes of stabilizing her, a former Albuquerque girl afflicted with a rare blood disease has just undergone an additional infusion of donor stem cells. With her condition deteriorating, her family hopes the treatment will prevent the progression of the disease.

The infusion, called a stem cell boost, was administered to nine year old Kailee on August 30th.

“Now, we start the stressful waiting and watching again, hoping in three or four weeks Kailee’s (blood cell) counts will start to climb once more,” her father said.

Kailee suffers from a very severe aplastic anemia, a disease in which the bone marrow no longer creates sufficient blood cells. Doctors had pronounced her free of the disease after a second marrow transplant was performed in November 2000 at the Children’s Hospital of Wisconsin in Milwaukee.

However, Kailee’s blood counts were decreasing and she was requiring more blood transfusions over the last five months.

Last weeks transplant came from the same donor as before. A perfect cell match that Kailee’s parents and doctors called a miracle, the donor is a physician from China.

She did not require an extensive hospital stay, nor did she need radiation or chemotherapy to kill off her own immune system since Kailee’s DNA is so closely matched with the donor.

“Instead, she received her stem cell boost as an outpatient and we were able to return home the same night,” said her father.

Her parents coordinated dozens of drives from the U.S. to China to find an ideal donor match. Her parents adopted Kailee from China as an infant.

A previous transplant was unsuccessful since the stem cells that were used were not a perfect match.

Kailee remains free of aplastic anemia but her doctors say a stem cell boost was necessary because of a “late graft failure” which causes her marrow to stop producing. The cause of the failure still remains unclear.

Scientists are reporting that they have come up with a new treatment for children with brain tumors called medulloblastomas as the use of adult stem cells continues to outpace embryonic stem cell research. Chemotherapy can take as long as a year in children with high-risk tumors and the odds of them surviving and living to the age of 5 is a low 30-40 percent at best.

Using a patients own stem cells is having a remarkable result in treating cancer says Dr. Amar of St. Jude’s Children’s Research Hospital in Memphis.

“Not only can we now cure about 70 percent of children with high-risk medulloblastoma, we can also cure more than 80 percent of those with standard-risk disease with a shorter, and therefore more convenient, chemotherapy approach,” he says.

The latest issue of The Lancet Oncology has published the research teams results.

Adjusted for the severity of the disease, the team administered radiation therapy. A shorter course of chemotherapy than normally used followed this preliminary radiation treatment.

Adult stem cells implanted after each round of chemotherapy make the shorter course possible. The cells allow the child’s body to recuperate from the damage the preceding round caused before moving on.

Of 134 children with medulloblastoma who endured the treatment (86 average-risk, 48 high-risk), 119 (89%) finished the study. Some 70 percent of those in the high-risk group 85 percent of the patients in the average-risk group and lived to the age of 5 years old.

A 70 percent survival rate overall could be acknowledged due to the adult stem cell treatment.

Stem cell therapy “can be used to improve the outcome of patients with high-risk medulloblastoma,” concluded the research team.

“By reducing the amount of [chemotherapy drug] cisplatin from eight doses to four doses, and the amount of vincristine from 32 doses to just eight doses, we could alleviate a lot of the neurotoxicity associated with the higher dose of vincristine without reducing survival,” Amar said.

Amar said that the stem cell therapy his team used could become commonplace.

“This approach should be feasible in most pediatric oncology units at academic medical centers,” he said.