A World Away: Yadkinville Infant, Born With a Defective Gene, Battles Disease

A World Away: Yadkinville Infant, Born With a Defective Gene, Battles Disease

By Janice Gaston, Winston-Salem Journal, N.C.

Dec. 26--YADKINVILLE -- Now that he is crawling, Luke Pennell can explore his living room on his own. He can sit at the storm door and peer at the world outside.

He likes to lick the glass barrier that protects him.

Sometimes visitors come and stand on the front porch. They coo at Luke, make funny faces and talk to him and his mother through the glass. Unless they wear masks, sterile gowns and gloves, like a surgeon in an operating room, they can't hug him or kiss him or even hold him.

The other day, when his grandmother stood at the front door, Luke kissed her through the glass.

Luke, who turns 1 on Friday, can't risk those hugs or kisses -- not even from his older brother and sister. A germ that most of us could fight off with no trouble could kill him.

A defective gene left Luke with severe combined immunodeficiency, also known as SCID or the "bubble-boy disease." Most people became aware of the disease in the 1970s through the story of David Vetter, a Houston boy born with SCID who lived his life in a sterile plastic bubble. Vetter died at 12.

SCID babies develop one infection after another. If the disease is undetected, most of them die of a severe infection before they reach the age of 1. According to the National Human Genome Research Institute's Web site, 40 to 100 of the 4 million or so babies born in the United States each year have SCID. But experts say they think the figures are actually higher because newborns are not routinely tested for the disease, so it often goes undiagnosed.

The best known treatment for SCID is a bone-marrow transplant, and it is most effective if done within the first three months of a baby's life, said Dr. Rebecca Buckley, one of the leaders in treating SCID babies. But many cases aren't caught until babies are older. Buckley is a pediatrician and a professor of pediatrics and immunology at Duke University School of Medicine.

Luke was 8 months old when doctors who had treated him for various infections and failure to thrive, a condition in which a baby fails to gain weight or grow properly, put the clues together and came up with the SCID diagnosis.

Luke weighed 6 pounds, 13 ounces, when he was born, said his mother, Wendy Pennell. He was the smallest of her three children. His troubles began at the age of 6 weeks, when he developed a cough and a fever. He also vomited frequently.

"I thought it was odd for a breast-fed baby to spit up so much," Pennell said. Throughout the winter and spring, Luke continued to fall ill, and doctors prescribed antibiotics. Each time, the medicine would help -- for a while.

In May, Luke landed in the hospital. He had inhaled food or liquid into his lungs. Doctors found that he had trouble swallowing, so they told his mother to thicken his formula. "By the end of June, he was really sick," she said.

Doctors found that the muscle at the top opening of his stomach didn't work properly. When he ate and lay down, food came back up. He needed surgery. They inserted a feeding tube.

Throughout the summer, Luke continued to get sick. His mother missed so much work that she lost her office job at a trucking company.

One day, in desperation, she called an allergy and immunology doctor at Brenner Children's Hospital who had seen Luke before.

"Luke is sick again," she said. "Please help me."

The doctor started treating Luke with antibody therapy to boost his immune system. The day of his first treatment, he got really sick, his mother said. He coughed and coughed, and he wouldn't eat.

"At 4:30 in the morning, I knew I needed to take him to the hospital," she said. She arranged care for her two older children -- Tyler Brown, 11, and Laken Brown, 8 -- and raced him to the hospital.

"He had very noisy breaths," she said. "One time in the car, I didn't hear him. I shook the car seat." Doctors admitted Luke to the hospital. Despite doses of antibiotics and administration of fluids, his condition continued to deteriorate. His temperature climbed.

At one point, Pennell uttered a resigned prayer.

"I know it's selfish to want to have him on earth," she prayed. "But I don't want him to suffer."

Luke got better. And doctors finally started putting together the clues that led to a diagnosis of SCID. Luke needed a bone-marrow transplant, and he was referred to Buckley. Pennell and her husband had their blood tested. She turned out to be the closest match.

When Luke was admitted to Duke Children's Hospital, he was suffering from pneumocystis pneumonia, a disease frequently linked to people with AIDS. Although AIDS and SCID are both diseases that damage the immune system, AIDS is caused by a virus, and SCID is caused by a defective gene.

Doctors put Luke in reverse isolation and gave him antibiotics to fight his pneumonia. He didn't have to wear a mask and gown, but everyone who came into his room did.

Pennell checked into the hospital in late September, and doctors took marrow from two sites in her lower back. What Luke needed were her immature stem cells, cells that would develop into normal blood cells. He received the cells the same day that they were removed from his mother.

If the transplant works, those cells will rebuild Luke's immune system, and he will be able to lead a normal life. The results take at least 90 to 120 days to show up.

Luke spent nearly three months in the hospital. He is considered disabled with SCID and Medicaid pays his bills. Pennell has no idea how much his treatment has cost.

During his long hospital stay, Pennell sometimes took him to Duke Gardens to see the ducks. She carried a sterile gown to quickly wrap him in if someone came too close. She took him out into the hospital halls at night, when they were empty, so he could play.

Luke left for Duke weighing 15 pounds. He now weighs 22, within the normal size range for his age. He takes several drugs, and every week, he must receive antibody therapy to boost his immune system. He gets the antibodies under the skin through a needle about the size of a post on the back of an earring. The needle goes into his belly, his love handles or his thigh. He takes the hour-long treatments in stride.

Now that he is home, Luke plays with his toys and bounces to the music of Sesame Street. He is a happy baby who dissolves into fits of giggles when his mother tickles him and loves playing peek-a-boo with his blue blanket.

But the two remain isolated. Pennell and her husband have separated. Her older children live, for now, with her mother.

"Schools are full of sickness," Pennell said. Luke can't be constantly exposed to the germs Tyler and Laken might bring home. On a recent Sunday, Luke's sister and brother, garbed in gowns and masks, visited their home to decorate a Christmas tree with their baby brother. A few days later, the image of a snowman and their names, along with baby Luke's, still remained in chalk on the sidewalk outside.

Her other children miss her, Pennell said, and they want to come home. They are trying to understand why they can't. It is hard.

"This is a difficult disease for adults to understand," she said.

Pennell can't take her son to the grocery store or out to eat. If she needs to go out, she usually calls on her stepmother to stay with Luke.

Out in public, she keeps an eye on the people around her so she can steer clear of people who are coughing or who have runny noses. When she comes home, she immediately changes clothes and washes her hands thoroughly.

Her life may be different, but it's not lonely, she said.

"He's got a lot of personality," she said, "and I have friends who call about every day." Luke gets plenty of visitors.

"There's not been a day when someone has not stood on the porch, talking to us through the glass," she said.

Pennell is grateful for a community that has offered lots of support throughout her son's illness. One local company, which employs one of her best friends, adopted her children for Christmas. Friends and people she doesn't even know have sent money and offered their prayers.

Luke's immune system is now working at about 20 percent capacity. When it reaches 50 percent, she said, she hopes her older children will be able to come home. Luke probably won't be able to go out and be around people for at least a year.

"Right now, I just dream about him being outside and playing with Tyler and Laken," she said.

She also has dreams for herself.

"Once he gets normal, I think I'm going to finish school," said Pennell, who is 31. She wants to earn a bachelor's degree in nursing. She has already completed basic course requirements, and she has applied to Winston-Salem State University.

"It's interesting to me. It comes easily, especially now, since I've learned so much."

--Janice Gaston can be reached at 727-7364 or at jgaston@wsjournal.com.

-----

Linkback URL: http://www.redorbit.com/news/health/780147/
a_world_away_yadkinville_infant_born_with_a_defective_gene/
index.html?source=r_health

Better Treatment: Defect No Longer Means Life in a Bubble

Better Treatment: Defect No Longer Means Life in a Bubble

By Janice Gaston, Winston-Salem Journal, N.C.

Dec. 26--Children with severe combined immunodeficiency, also known as SCID, no longer have to grow up in a bubble, the way that one of its best-known victims did.

David Vetter of Houston, who died at 12 in 1984, made headlines in the 1970s. The public learned then of his rare genetic illness, which left him so vulnerable to germs that he was forced to spend his life in a sterile plastic enclosure. His story inspired a PBS documentary and a made-for-TV movie, The Boy in the Plastic Bubble, starring John Travolta.

SCID causes a defect in the white blood cells that ward off viruses, bacteria and fungi.

Doctors now know that SCID can be the result of a mutation in one of at least 12 genes. And they have weapons with which to fight it, most notably, bone-marrow transplants.

Dr. Rebecca Buckley, a professor of pediatrics and immunology at Duke University School of Medicine, has led the fight against SCID for nearly 25 years. Luke Pennell, a SCID baby from Yadkinville, is one of her patients. Under her guidance, 157 children have had bone-marrow transplants at Duke, and 123 of them are still alive. Left untreated, most SCID babies die before the age of 1.

"We have many who are in their teens or early 20s," Buckley said. Duke has the only program of its kind in North Carolina and is one of only two hospitals in the country that do bone-marrow transplants for children who don't have a perfectly matched sibling. Luke has no full siblings. His mother proved to be his closest match, and she provided the bone marrow for his transplant.

SCID can be inherited in two ways, Buckley said. The most common type of SCID, X-SCID, is inherited from the mother and affects only boys. Both parents have to carry the defective gene to produce the other types.

Luke has a less common form of SCID, one that affects only 5 percent of SCID children, his mother said.

Some experts think that SCID is as rare as one case in 500,000 births. But Buckley thinks that the condition is much more common. The genetic defect can be detected through a blood test, but newborns usually are not tested for it unless they have a family history of the disease. Babies who die of severe infections could be victims of undetected SCID, she said.

"Remember, when these babies are first born, they look perfectly normal," Buckley said. "We've had a number who looked like the Gerber baby. They're fine until they get sick with very bad viruses." Children with SCID have frequent, severe and hard-to-treat infections. Many, like Luke, don't gain weight as they should.

Three of the most dangerous viruses that these babies face are Epstein-Barr, or EBV, which causes mononucleosis; adenovirus, which affects the respiratory and intestinal tracts; and cytomegalovirus, or CMV, which can cause hearing and vision loss, seizure and death.

Many people carry the CMV and EBV viruses in their bodies, but those with normal immune systems aren't harmed by them.

Buckley is lobbying to have newborns screened. "We have been able to transplant 45 babies in the first three months. Ninety-six percent of those are surviving. If you wait beyond that time, they usually come in with a bad infection."

Treating babies early is far less expensive, too. The bone-marrow procedure, including expenses for the parents, can be done for less than $100,000 if the baby is treated soon after birth. But once the baby starts developing severe infections and spending lots of time in the hospital, medical bills can top $1 million.

The breakthrough in treating SCID came in the early '80s, Buckley said. Babies usually receive a bone-marrow transplant from a parent, who can provide stem cells that can develop into healthy blood cells in the baby. The babies receive the cells slowly through a syringe.

"Ninety to 120 days after the transplant, stem cells are transformed into T-cells, which come out and protect the patient," Buckley said. T-cells are white blood cells that help protect the body against infection.

She has watched some of the babies she has treated graduate from college, go to medical school, earn an MBA.

"They're leading normal lives," she said. She expects the same for Luke Pennell.

"I used to see these babies die all the time," she said. "Now it's just wonderful to be able to see them make it and grow up and be normal."

--Janice Gaston can be reached at 727-7364 or at jgaston@wsjournal.com.

Linkback URL: http://www.redorbit.com/news/health/780146/
better_treatment_defect_no_longer_means_life_in_a_bubble/
index.html?source=r_health

Maryville woman takes Winfrey charity challenge

Mikah Zobrist who died on December 23rd received his bone marrow transplant to correct RAG1, a form of SCID.

Maryville woman takes Winfrey charity challenge

Associated Press
Published December 25, 2006, 5:35 AM CST

MARYVILLE, Ill. -- Oprah Winfrey gave the challenge. Deana Frey delivered.

The Maryville woman was one of 300 audience members of "The Oprah Winfrey Show" who received a $1,000 debit card this fall from the talk show hostess -- with the stipulation that the money go to a charitable cause.


So Frey managed to increase the cash nearly eight-fold, and organized a crew of volunteers to help clean, paint and decorate a house that belonged to the family of a seven-month-old who had recently received a bone marrow transplant.

"She made a great Christmas," said Heather Zobrist, the boy's mother. Her son, Mikah Parsons, died Saturday.

The house in Highland, 20 miles northeast of Belleville, had been slated for demolition. The family moved in earlier this month.

Linkback URL: http://www.chicagotribune.com/news/local/illinois/
chi-ap-il-winfrey-giveaway,1,6764494.story?coll=chi-newsap_il-hed

Gifts on the wings of an angel

Gifts on the wings of an angel

By Nok-Noi Hauger

Thursday, December 21, 2006 -

Bangor Daily News

The holiday gift bag filled with wrapped presents from Santa was stamped with a North Pole postmark. It was delivered by airmail Wednesday to 9-year-old Zachary Nickerson, who suffers from a deficient immune system and severe lung disease.

The Corinth boy and his family were waiting at the airport in Bangor for an Angel Flight airplane that typically carries the child to a hospital. The ruse to get the boy to the Avitat general aviation terminal on Wednesday was that he would meet a new pilot. Instead it was a Santa Flight, and the boy wound up with a Christmas bag filled with presents.

"Where have you been, shopping in the air?" the boy asked Angel Flight pilot Joe Luma, who carried the bag into the terminal. "Wow!" said Zachary when he heard the presents were for him. Nickerson was one of three children in Maine who received early Christmas presents on Wednesday as part of the first Santa Flights, sponsored by toy maker Hasbro Inc. and delivered by Angel Flights Northeast, a nonprofit organization that provides free air transportation to ill children and adults so they can have access to life-saving medical care. Noah Jondro, 4, of Fort Fairfield and Randi Leigh Baxter, 13, of Appleton also greeted Santa Flights on Wednesday and received gifts. Other flights went to ill children in spots in New York, New Jersey and Pennsylvania.

"We had half a dozen Angel Flights all depart today from the Andover [Mass.] airport," said Luma, who is from Beverly, Mass., and owns his own architecture firm. "This is the first annual Santa Flight and I hope it takes off." Private aircraft piloted by volunteers, including Luma, transport the ill children at their own expense for Angel Flights. While the toys were provided by Hasbro, the Santa Flights transportation costs were financed by the pilots, he said.

Zachary, who was diagnosed with severe combined immunodeficiency when he was 4 months old, said he’s taken "about 100" Angel Flights, but his mother and full-time caregiver, Michelle Nickerson, said the number is probably closer to 70. "They’ve been unbelievable," Lloyd Nickerson, Zachary’s dad, said of the Angel Flights program while standing in the back of the room watching his child. "He was born with no immune system and he has a lung disease now, pulmonary fibrosis, which is fatal. "I don’t know how we would have done it without them," he said. Even with the diagnosis and his weekly local doctor appointments and monthly appointments in New York, Zachary is a fighter. "He’s dealing with it," Lloyd Nickerson said. "It’s never ending." When friends or family visit, for example, the first thing out of Zachary’s mouth is: "Do you have anything?" his father said. "He knows how to protect himself."

While at the airport, Zachary opened two of the presents from Santa — "Everyone knows him, but hasn’t met him," Zachary said. After the presents were open and photos were taken, Michelle Nickerson hugged Luma, who typically does one Angel Flight per week, and thanked him for volunteering his time and money. "It’s a great service you guys provide," she said. And while Zachary and his parents walked to their vehicle to travel back to Corinth, the child aknowledged his new predicament: "I cannot wait five days with this many presents."

backlink url: http://bangordailynews.com/news/t/
news.aspx?articleid=144401&zoneid=500

Newborn Screening Expansion

Newborn Screening Expansion
From the East Texas Review

* The Department of State Health Services is now requiring hospitals to screen all newborns for additional conditions. Many of the conditions hospitals screen for are inheritable, and abnormal screening results trigger additional case management to promote the good health of the child. HB 790 from 2005 by Rep. Myra Crownover (R-Denton) requires the department to increase the number of conditions that hospitals screen for to match the recommendations of the American College of Medical Genetics as funding allows.

“We are pleased to announce that the Newborn Screening Program expansion has begun and is now giving important clinical information to health care providers and families,” said Dr. Charles Bell, DSHS Acting Commissioner. “Early detection of these disorders allows early treatment that can prevent serious complications such as growth problems, developmental delays, deafness or blindness, mental retardation, seizures or early death.”

Sebastian's Story

Wednesday, December 20, 2006

Sebastian's Story

Sebastian Westfall is our 4 ½ year old son who has a rare genetic disease called Severe Combined Immunodeficiency (SCID). His form of SCID is linked to a deficiency of the adenosine deaminase (ADA) enzyme. Basically, Sebastian doesn’t have an immune system and is very susceptible to infections that wouldn’t harm healthy children, but could pose a serious problem for Sebastian and may even be fatal.

There is no cure for ADA-SCID. Sebastian’s current treatment consists of:
• PEG-ADA enzyme therapy, which means he receives a shot
in his thighs twice a week. This treatment fools his body into
thinking that he has the ADA enzyme that he is missing.
• IVIG every 4 weeks, which is an IV infusion that gives him the
antibodies that his body doesn’t produce.
• Multiple antibiotics.

He has responded to his current treatment, yet his T-cell count has continued to drop and there is a deep concern that if we do not take action soon, his health could quickly decline.

Future Treatment and Great Hope
Sebastian has been accepted to participate in a Gene Therapy clinical trial in Milan, Italy. The clinical trials have had good results for other ADA-SCID patients, and could potentially be a “cure” for Sebastian, although the researchers cannot say it is a cure due to the fact that the Gene Therapy trials are experimental.

We have not been given an exact date, but were told we could go in early Spring. We will need to be in Milan for approximately 6 months. We will be provided with housing near the hospital and Sebastian will be able to stay part of the time with us, however, when he is undergoing treatment, he will be kept in strict isolation in the hospital (approximately 2 months). A portion of the costs are covered by grants, however, we are trying to raise money to cover our expenses here in the U.S. as well as any expenses we may incur while in Italy. This would allow both parents to be with Sebastian during this crucial time so that we can focus 100% of our energy on his care.

The Sebastian Westfall Fund has been created to provide short term and long term financial assistance to be used for necessary expenses pertaining to Sebastian’s medical care. Any donation is greatly appreciated; no amount is too small. Checks can be made payable to "The Sebastian Westfall Fund" and sent to:

The Sebastian Westfall Fund
c/o The First Republic Bank
1625 The Alameda, Suite 100
San Jose, CA 95126

We thank you for your generosity and we appreciate your support!
With love,
Lynette and Christopher Westfall

linkback URL: http://sebastiansspace.blogspot.com/2006/12/sebastians-story.html

Breakthrough for "Bubble Boy" Disease

Breakthrough for "Bubble Boy" Disease

Reported December 13, 2006

By Lucy Williams, Ivanhoe Health Correspondent

ORLANDO, Fla. (Ivanhoe Newswire) -- For people born with severe combined immunodeficiency (SCID), exposure to seemingly harmless germs can be deadly. But breakthroughs in stem cell research bring new hope to the search for a cure.

SCID is a severe genetic defect more commonly known as "bubble boy disease." Individuals with SCID are extremely susceptible to germs and disease; even benign germs can be fatal. Patients must live essentially in a hospital or in isolation until the disease is successfully treated. Previously, SCID patients required continuous treatment over their lifetime to prevent sickness and death.

"Without treatment, these children generally die within months of birth," lead author Alessandro Aiuti, M.D., of the San Raffaele Telethon Institute for Gene Therapy in Italy, told Ivanhoe. "Unfortunately, with this type of disease, the success rate is very low."

Now, researchers believe stem cell transplants could effectively treat and potentially cure a form of SCID caused by a deficiency of the adenosine deaminase gene, or ADA-SCID. Researchers treated eight children with ADA-SCID. They removed autologous hematopoietic stem cells from the patient's bone marrow, combined stems cells with the ADA gene, then transplanted the stem cells back into the patient's body.

All study participants are healthy, even six years after treatment. The stem cells integrated into the patients' marrow, and patients are now able to generate healthy blood cells. The children no longer need to be isolated to survive.

"Patients are alive and going to school, and they no longer need to be protected and completely isolated from other people as they were before," Dr. Aiuti said. "This is good news for both the children and the gene therapy field, which has been struggling for many years."

The children have continued to grow and develop because the ADA genes sustain activity in the blood cells. Tests reveal the presence of antigen-specific antibodies, which help the immune system fight bacteria and viruses. Five patients had antibody levels high enough to discontinue treatment of supplemental antibodies.

"Based on the experience of bone marrow transplant, this treatment will be life long," Dr. Aiuti said. "Hopefully, they will not need follow-up treatment. The children who completely reconstituted did not need follow-up treatment in years following the study."

Dr. Aiuti said this research opens the doors for future breakthrough treatments of ADA-SCID.

"We have the demonstration," she said. "By improving therapy, the bar can be raised."

This article was reported by Ivanhoe.com, who offers Medical Alerts by e-mail every day of the week. To subscribe, go to: http://www.ivanhoe.com/newsalert/.

SOURCE: Ivanhoe interview with Alessandro Aiuti, M.D., of the San Raffaele Telethon Institute for Gene Therapy in Italy; American Society of Hematology 48th Annual Meeting and Exposition Dec. 9-12, 2006, Orlando, Fla.



Linkback URL: http://www.ivanhoe.com/channels/p_channelstory.cfm?storyid=15101

‘Bubble’ baby loses battle for life

‘Bubble’ baby loses battle for life

12/12/06

A BUBBLE' baby who couldn't be touched because he was born without an immune system has died.

And devastated parents Rukhsana and Hamid Nadeem, of Nelson, spoke of their heartbreak after only being able to kiss baby Zohaib after he died.

The death has shattered the family and mystified doctors as five-month-old Zohaib had appeared to be making a promising recovery after a bone marrow transplant.

The procedure was carried out to replace a faulty gene causing an inherited condition called Severe Combined Immune Deficiency Syndrome (SCID). If SCID is left untreated, all babies with it die before their first birthday.

His parents were expecting him to be discharged soon from the Children's Bone Marrow Transplant Unit in Newcastle-upon-Tyne, where he had been since birth. Newcastle is one of only two units in the UK and Ireland capable of providing the care needed for bubble' babies. However his condition suddenly deteriorated on October 31 and despite medicos' best efforts his life support machine was switched off at 6.30pm.

Rukhsana, 26, of Summer Street, said: "We can't believe it. He had a lot of pressure on his heart and suffered a large haemorrhage. His lungs had been damaged, which led to his death. He was on a ventilator and his heart stopped three times. Doctors tried to resusciate him but he'd gone.

"Doctors have done a biopsy but still don't know why it's happened. I got to kiss him for the first time when he died, it was heartbreaking. The family came to the hospital when he had died and that was the only time they had been able to hold him."

His mum was the only person allowed to pick up baby Zohaib because of his rare condition.

He spent most of the day in a sterile bubble incubator of clean air and came out only to be breastfed and changed by his mum, who had to follow a strict regime, scrubbing with disinfectant and wearing a special gown. Dad Sajid and older brother Hamid, four, who was born with the same condition, faced the daily heartache of not being able to kiss or cuddle the latest family arrival.

Rukhsana added: "Everyone on the ward loved him to bits. Despite everything he had to go through he was always such a cheerful baby and always smiling. For Eid we bought some lights in plastic tubing and put them around the bubble. He loved those lights."

She added: "Hamid doesn't understand what's happened. He was saying when are you going to wake the baby up? I want to sleep next to him tonight'. I didn't know what to say so I told him he had been taken to another hospital to be looked after there."

"We thought he had made a full recovery. He was the healthiest baby on the ward so all the parents are devastated too because they're thinking if this has happened to Zohaib, what's going to happen to their child.

"It was just so sudden. He was our little bundle of joy and he was loved so much. I have tried to be strong and said to all the other parents that it was his time to go."

Rukhsana went through a painful bone marrow transplant after tests showed she was a 100 per cent match for him. She did the same for her first born, Hamid, who also had the condition but has recovered.

Rukhsana, who had to give up work as a carer at Palace House Nursing Home in Padiham when she discovered Zohaib's illness, had been keeping a constant vigil at her son's side.

The funeral was last Thursday at Pleasington Cemetery, Blackburn, where his body was buried.

7:00pm Saturday 11th November 2006

By Charlotte Bradshaw

Backtrack URL: http://www.burnleycitizen.co.uk/news/newsheadlines
/display.var.1017979.0.bubble_baby_loses_battle_for_life.php

Spokane baby needs bone marrow transplant

Spokane baby needs bone marrow transplant

If you want to help •A marrow/ blood cell donor drive for 3- month-old Caden Atchley will be held from 10 a.m. to 4 p.m. Saturday in the atrium at Mt. Spokane High School, 6015 E. Mount Spokane Park Drive in Mead. For more information, call the Inland Northwest Blood Center at (509) 232-4492. •To learn more about Caden Atchley's fight against severe combined immune deficiency syndrome, visit www.caringbridge.org/visit/cadenatchley. An account in Caden's name has been set up through Bank of America to help the family cover expenses.

Heather Lalley
Staff writer
December 12, 2006

When he was not yet a month old, Caden Atchley came down with pneumonia.

His worried parents, Josh and Melissa, took him to doctors. But weeks went by, and the tiny baby still wasn't improving.

"The whole family got sick and we all got better, but Caden never got better," Melissa, 26, says.

Caden still isn't better.

Just about a month ago, the Spokane family got the terrible news:

Caden was not recovering because he has severe combined immune deficiency syndrome, or SCIDS, a rare disease in which the body lacks a defense system against disease. SCIDS is commonly known as "bubble boy disease," after a famous case of a boy with the disease who lived for a time in a sealed bubble.

Hours after Caden's diagnosis, the Atchleys were flown to Seattle Children's Hospital. They have been in an isolation room there ever since.

"He has good days and bad days," Melissa says. "He's definitely a spunky little guy. He's like a little firecracker. He's been a trouper from the beginning."

Since Caden's body is so prone to infection, his only hope for survival is a bone marrow transplant. A successful transplant would give him an immune system so he could fend off germs. But none of his family members is a match for a bone marrow transplant.

On Saturday, the Inland Northwest Blood Center will host a marrow donor drive at Mt. Spokane High School to help find a match for Caden and other needy patients around the country.

"You could truly be someone's last hope," says Laura Oiland, a registered nurse who's the marrow program supervisor for INBC.

Qualified people attending Saturday's drive can join the National Marrow Donor Program registry. Registrants must be in good health and between the ages of 18 and 60. After filling out a consent booklet, potential donors will have their mouths swabbed for tissue typing.

Potential donors are asked to pay $20 to join the registry, to help defray the $52 cost of the test. But some grants are available for people in financial need, Oiland says.

If a prospective donor turns out to be a match for Caden or another patient, he or she will undergo blood tests, along with a physical.

Donations are collected either through the hip bone or, more commonly, through the blood.

About 10 percent of potential donors tested each year actually go on to donate, Oiland says.

Since Caden's mother is part Hispanic, both Caucasian and Hispanic donors are needed at the drive, she says.

"We encourage all ethnic groups to be tested," she says.

While he waits, Caden is undergoing a new enzyme therapy to try to ramp up his white blood cell levels, his mom, Melissa, says.

The Atchleys also have another son, a 5-year-old, who has stayed home in Spokane to go to kindergarten while his brother is in the hospital. But the boy came to visit for Thanksgiving, Melissa says.

"It was so sad," she says. "He stood up by Caden's crib. He touched him by his arm and told him how much he loved him and that he missed him. He knows Caden's sick and, of course, he couldn't understand how bad it is."

Linkback URL: http://www.spokesmanreview.com/tools/story_pf.asp?ID=163938

Stem Cell Therapy Debate Lives On, But Research Continues To Find Effective Applications In Immune And Organ Function

This is an excerpt from:

Stem Cell Therapy Debate Lives On, But Research Continues To Find Effective Applications In Immune And Organ Function

Long-Term Safety and Efficacy of Stem Cell Gene Therapy for ADA-SCID [Abstract #200]

Severe combined immunodeficiency (SCID) is caused by a severe genetic defect often found in newborns. Because the immune system is so severely compromised, exposure to even benign germs can result in serious or life- threatening infections like pneumonia, meningitis, or bloodstream infections. The condition must be diagnosed and treated quickly to prevent serious complications, and doctors continue to struggle with often ineffective treatment options. In this study, a team of Italian researchers found that the use of stem cells may effectively fight SCID caused by a deficiency of the ADA gene (adenosine deaminase), which is critical for the immune system to function properly.

Previous research has shown that immune function has improved when patients were given an autologous hematopoietic stem cell transplant (HSC), from the body's own bone marrow, combined with the ADA gene. The current phase I/II study treated eight ADA-SCID children (ages 7-67 months) with HSC conditioned with busulfan, a treatment that helps with the engraftment process. After following patients for an average of three years, researchers have seen no adverse events related to the gene transfer. In fact, they have observed that the stem cells have successfully integrated into the patients' marrow, giving rise to genetically repaired blood cells.

In the six children with a follow-up of more than one year, white blood cell counts progressively increased and T-cell functions normalized. In addition, tests found the presence of antigen-specific antibodies (proteins that help the immune system identify and fight bacteria and viruses). In five patients, levels were high enough to discontinue supplemental antibody treatment.

"We feel that these data confirm the safety and efficacy of gene therapy in improving immune and metabolic function in children diagnosed with this form of severe combined immunodeficiency," said Alessandro Aiuti, MD, of the San Raffaele Telethon Institute for Gene Therapy in Italy and lead author of the study with Maria Grazia Roncarolo, MD. "This may represent a viable solution to reduce the mortality rates associated with SCID in newborns."

At the conclusion of the study, all participants were healthy, with no severe infections, up to six years from the treatment. Researchers noted that because the ADA genes had sustained activity in the blood cells, the children's growth and development has continued to improve.

The treatment is funded by the Italian non-profit Telethon Foundation, a major charity that raises and distributes funds in Italy for biomedical research on genetic diseases, and has recently attained Orphan Drug status from the European Medicines Agency (EMEA).

Linkback URL: http://www.medicalnewstoday.com/
medicalnews.php?newsid=58621&nfid=rssfeeds

Gene therapy—fiction or reality?

Gene therapy—fiction or reality?

They are the basis of life and hold the keys to unlock the code to counter genetic diseases. Vanessa Mahapatra charts the successes and failures of gene therapy and explores its potential in checking various gene-linked disorders.

Genes have since long been considered the units of all life within our body. But now, scientists are viewing them as the root cause of innumerable disorders. Thus gene therapy comes into existence heralding an answer to numerous genetic woes. "Gene therapy can be applied to any disease where you can identify that some faulty gene causes the disease. There are several diseases like that," opines Srikumar Suryanarayan, President, R&D, Biocon. Gene therapy follows a process whereby a functional gene replaces an absent or faulty gene, resulting in the restoration of protein action, consequently eliminating the root cause of the disease. Simple as it sounds, gene therapy has been under the limelight for both its notable successes and concurrent failures.

Memoirs of Genes

It all began with W French Anderson, the father of gene therapy, who evolved the concept in a big way leading to the first clinical trial on gene therapy in 1990. Gene therapy was executed on two girls suffering from adenosine deaminase deficiency (ADA), a form of Severe Combined Immunodeficiency Syndrome (SCID). The disease had plagued the immune system of both the girls making them susceptible to repeated infections. Their bodies had extremely low levels of specialised white blood cells, also known as T cells, which are the immune system's instruments against invading organisms.

Scientists considered that replacing the defective ADA gene would trigger the production of ADA, creating a permanent cure. Therefore, initiating gene therapy on these patients, researchers induced the T cells from their blood to replicate in culture. ADA-bearing retroviral vectors were then transferred into the cultured T cells, which in turn integrated into the DNA and transferred the gene. The enhanced T cells were then reintroduced into the girls. To the researcher's delight, reported results were remarkable as their immune functions improved progressively. However, one of the patients had to be subjected to continuous treatment as the genetically treated WBCs work for only a few months. She therefore has to be given repeated transfusion of blood containing the ADA gene. The results of the second girl were welcomed more enthusiastically as after a review in 1995 and till date, it has been observed that the other patient has white blood cells bearing copies of the replaced ADA gene.

This optimistic chapter is only one side of the gene therapy story. For this positive, there have been many negatives. There have been quite a few retreats in the research process that have caused caution in proceeding clinical trials. A decade after the first clinical trial, there was a French clinical trial involving 17 children who were suffering with SCID deficiency caused by a defective gamma C gene. Typically called 'bubble-babies', these children unlike the other two girls, didn't have an immune system at all. To counter this, researchers introduced the required gamma C gene into their system with the help of a viral vector. As with the first trial, the results of this clinical trial too were positive, but unfortunately only for the first couple of years. In 2002 one of the children involved in the trial developed leukaemia, followed by another in 2003 and one in 2005. The reason—correct gene reached the wrong target. A general misconception with gene therapy is that the functional gene that is fed into the system is exchanged for the dysfunctional one. However, contrary to this belief the accurate gene is generally not swapped for the defective gene. Instead it just replaces it within the system by lodging itself somewhere in the chromosome and still being effective. "So it is a functional replacement rather than a physical replacement," explains G Padmanaban, Distinguished Biologist, Indian Institute of Science. In this case, the introduced gene lodged itself with another gene called LMO2, a proto-oncogene that can cause cancer. This gene then activated LMO2 resulting in the augmentation of leukaemia. According to Padmanaban, "This may not happen in other diseases. But it is a setback to the field."

In 1999 too, gene therapy suffered a major hurdle with the death of 18-year-old Jesse Gelsinger. Jesse was participating in a gene therapy trial for ornithine transcarboxylase deficiency (OTCD). Instead of being cured he died from multiple organ failures, four days after the onset of the treatment. A severe immune response to the adenovirus carrier is believed to have triggered his death. Till date this factor is a major hurdle in all gene therapy studies and it has led to apprehensions in ongoing trials. Padmanaban remarks, "Gene therapy is an area that goes one step forward and two step backwards."
How it works

In most gene therapy studies, a normal gene is inserted into the genome to replace an abnormal or defective gene. A carrier molecule called a vector is generally used to deliver the gene into the target cells, the most commonly used vector being a virus or viral vector. The vector is introduced into the target cells following which, it unloads the gene into the cell, hence restoring the generation of the functional protein. The rectified protein action then brings the cell to its normal state and the cause of the disease is eliminated. This is the general procedure for gene therapy. Apart from this, there are a variety of other methods of gene therapy, for instance:

* An abnormal gene could be swapped instead of being replaced functionally, through homologous recombination
* The abnormal gene could be repaired through selective reverse mutation
* The regulation of a gene could be altered
* The expression of a particular gene could be repressed

These procedures are still being studied under clinical trials. Another question in mind is the delivery of the gene to the desired target, for which many options have come to the fore. Viruses have evolved a way of encapsulating and delivering genes to human cells in a pathogenic manner. Taking advantage of this capability, scientists have conveniently been using viruses as the preferred option of gene delivery. Viral vectors like retroviruses, adenoviruses, adeno-associated viruses and hepes simplex viruses form the typical option in clinical trials, depending on the type of sites they target.

Besides virus mediated approaches, another simple method is the direct introduction of therapeutic DNA into the target cells. However, this effort has its limitations as it can only be used with certain tissues and requires large amounts of DNA. Yet another delivery system is through liposome delivery. A liposome carrying the required DNA is capable of passing through the target cell's membrane. A novel approach called electroporation has recently held researchers interests for gene delivery. According to this technique, a gene can be pushed into a cell through the application of an electric pulse that forms pores in the cell membrane, creating a way for the gene to enter. The seemingly simple methods are largely theoretical and are still under experimentation.

Hurdles

It has been more than two decades since the study of gene therapy commenced. Yet it hasn't been approved as a clinical practice. There are many factors that have raised eyebrows and kept gene therapy from becoming a conclusive and absolutely effective treatment for countering genetic diseases. Apart from the obvious failures there are many inherent loopholes that hindered any kind of progress. One of the factors is the short-lived nature of gene therapy, which was observed in the first clinical trial. If the therapeutic DNA that is introduced into the cell does not remain functional for a long time, then all efforts are nullified. In addition to this, the cells containing it must be sustainable before gene therapy can become a permanent cure with long-term benefits; else, most patients under-going it will have to be subjected to multiple rounds of treatment.

An additional hindrance, common to such therapies that involve the introduction of a foreign body, is the response generated by the immune system in opposition to the alien substance. Suryanarayan says, "One major side effect for gene therapy is immunogenic reactions, which caused several trials to halt." The insertion of a virus into the body could stimulate intense immune response, something that caused Jesse Gelsinger's death in 1999. Furthermore, this would raise a question to the acceptability of the vector in the body, deterring an important method of gene delivery. Viruses also pose other potential problem to the host in terms of toxicity, inflammatory responses, gene regulation and targeting issues. A virus can lodge itself at a wrong site or may alter the regulation of a gene, creating unwanted side-effects. "We still cannot direct a gene to a particular site. That is physically impossible till now," says Padmanaban. He believes that the answer to targeting issues lies in a natural phenomenon, homologous recombination. He says that this issue can be countered if there could be some strategies by which one could force the system to undergo homologous recombination.

Last but not the least, gene therapy cannot be developed for multigene disorders. So far, disorders arising from mutations or defects of a single gene have been the best candidates for gene therapy. Unfortunately, some of the most commonly occurring diseases such as heart diseases, high blood pressure, Alzheimer's, arthritis and diabetes are caused by the combined effects of variations in multiple genes. Treating such diseases would add to the existing complications.

A new approach

Gene therapy is being tested in various forms and for various diseases like SCID, Huntington's, Parkinson's. Lesch-Nyhan syndrome and phenylketonuria, among many others. However, scientists have found that this therapy holds a lot of promise for cancer as the treatment for this disorder involves the prevention of the expression of a gene. This can be achieved through the revolutionary anti-sense mechanism for gene regulation or RNAi, which is another form of gene therapy. Even as the research initiatives progress, newer forms and techniques are coming to the fore. "Despite all the setbacks, there are tremendous numbers of research and clinical trials going on worldwide, especially for cancers. Sixty percent of the trials are in some form of cancers," says Padmanaban.

Recently researchers have found a new channel to focus their energies upon. This phenomenon is called the DNA vaccine, an alternative form of gene therapy. Suryanarayan observes, "I have recently noticed that people are countering immunogenic reactions by actually using DNA vaccines." According to this method, instead of delivering the disease-causing gene into the body, one needs to introduce an artificially copied and multiplied gene from the disease-causing pathogen. The pathogen's gene expression ultimately leads to the synthesis of proteins and hence the natural production of antibodies in the host's bodies. Padmanaban explains, "Instead of introducing engineered proteins from a malarial or influenza parasite, I can introduce the gene itself. This is a DNA vaccine." A vaccine of this sort would usher a life long immune protection. Since, gene therapy hosted many challenges, researchers at IIS turned to this newfound method. Prof Rangarajan has already developed a DNA vaccine for rabies, which has proved positive. This has now been transferred to the Indian Immunological Institute in Hyderabad for the final stages of trial.

What lies beyond

Though clinical trials are on across the globe, not much work is being done in gene therapy in India. Only Tata Cancer has initiated gene therapy studies specifically for oral cancer. "One of the problems that drug companies in India face is that the regulatory framework and the exposure level of our regulators is still not geared up to international standards so as to easily allow researchers in India to do cutting edge science, which involves taking some risk, balanced with potential benefit to patients and society," remarks Suryanarayan. "Gene therapy still has some risk associated with it and trials will have to be approved after a lot of scientific consideration," he adds.

Hundreds of clinical trials are going on all over the world for testing potential methods of developing effective gene-transfer strategies, tailoring them to the dynamics of various cells and tissues, maintaining long-term cell survival and establishing reliable gene expression. The road to the development of gene therapy has been rocky and fraught with controversy. "Yet many researchers still continue work because it has got promise for a permanent cure for certain diseases," comments Suryanarayan. "It will happen very gradually. But as one of the major alternatives to cure genetic diseases, it is very encouraging," he adds. Only further research can unravel the secrets to out do the complications and develop the therapy into a miraculous remedy. Suryanarayan stresses on the need to continue studies despite the roadblocks and says, "It hasn't been a complete disaster. People will not understand how to develop it until they move forward."

WEB LINK - http://www.expresspharmaonline.com/20061215/research01.shtml

Stem Cell Therapy Debate Lives On

Stem Cell Therapy Debate Lives On, but Research Continues to Find Effective Applications in Immune and Organ Function
Sunday December 10, 10:00 am ET

ORLANDO, Fla., Dec. 10 /PRNewswire/ -- While the debate over the ethical implications of stem cell research continues to embroil medical and political communities, researchers are successfully demonstrating the therapeutic value of human stem cells in a wide variety of diseases. Three studies being presented today at the 48th Annual Meeting of the American Society of Hematology (ASH(TM)) suggest that the use of stem cells may improve the treatment of life-threatening diseases while simultaneously decreasing complications from therapy.

"We know that stem cells may be the key to developing more effective and less toxic therapies to fight a host of diseases in the future," said Stephen Emerson, MD, PhD, of the University of Pennsylvania, Philadelphia. "While we are working together to determine the best way to extract these cells without causing any human harm, continued research -- like the studies presented here -- offers a significant benefit by identifying the many possible applications of this therapy."

Several of the studies being presented review stem cell therapy in relation to the transplantation process, which can result in a variety of complications based on the donor's relation to the recipient. The outcomes of related and unrelated donor cell transplants depend heavily on the degree of human leukocyte antigen (HLA) matching between the transplant recipient and the donor. Matching HLA is extremely important to successful engraftment, frequency and severity of graft-versus-host disease (GVHD), and overall survival post-transplant. A haploidentical transplant uses cells from a relative who is not HLA-matched but who has common related genes with the recipient, including parents and sometimes siblings. For patients with an urgent transplant need and without identical HLA-matched relatives, a haploidentical match is often the next best option.

Mesenchymal Stem Cells for Treatment of Severe Acute Graft-Versus-Host Disease [Abstract #753]

Research in stem cell therapy has expanded to a variety of diseases as researchers discover the value of human stem cells in treating illnesses like cancer and heart disease. In this study, a team of researchers from Sweden examined the value of stem cell therapy for severe graft-versus-host disease (GVHD), a major complication of blood transplants that replace damaged cells due to leukemia and other disorders. During successful transplants, the donated cells engraft or implant within the patient's bone marrow, where they grow and provide a new source of blood and immune cells. GVHD occurs when T- cells from the donor (the graft) respond to the host cells in the patient's body as foreign and attack them.

A total of 40 patients with severe (grades III-IV) acute GVHD were given varying doses of therapy with mesenchymal stem cells (MSC), derived from bone marrow: one dose (19 patients), two doses (19 patients), three doses (2 patients), or five doses (2 patients). The stem cells were donated from HLA- identical sibling donors (5), haploidentical donors (19), and HLA-mismatched donors (41).

The results of the trial therapy were successful overall, as 19 patients experienced a complete response and nine additional patients showed some improvement. The disease stabilized in four patients but did not improve. In seven patients the treatment did not provoke a response, and one patient was not evaluated due to short-term participation. No side effects were seen after the MSC infusions. The team has continued to follow up with patients (up to 3.5 years); of the 21 surviving patients, nine have chronic GVHD, one patient has recurrent leukemia, and one has de novo AML.

"Based on the results of this study, we are optimistic that mesenchymal stem cells do in fact have measurable value in repairing human tissues," said Katarina LeBlanc, MD, PhD, of the Karolinska University Hospital Huddinge, Stockholm, Sweden, and lead author of the study. "This therapy should be further explored in randomized trials as an effective and safe way to treat severe acute GVHD."

Offering explanation for the possible value of MSCs in treating GVHD, researchers noted that MSCs derived from adult bone marrow have the capacity to differentiate into several types of mesenchymal tissue and are proven to inhibit T-cell alloreactivity in vitro. Therefore, the disease characteristic of attacking the host body's cells is blocked by the injection of these stem cells.

Long-Term Safety and Efficacy of Stem Cell Gene Therapy for ADA-SCID [Abstract #200]

Severe combined immunodeficiency (SCID) is caused by a severe genetic defect often found in newborns. Because the immune system is so severely compromised, exposure to even benign germs can result in serious or life- threatening infections like pneumonia, meningitis, or bloodstream infections. The condition must be diagnosed and treated quickly to prevent serious complications, and doctors continue to struggle with often ineffective treatment options. In this study, a team of Italian researchers found that the use of stem cells may effectively fight SCID caused by a deficiency of the ADA gene (adenosine deaminase), which is critical for the immune system to function properly.

Previous research has shown that immune function has improved when patients were given an autologous hematopoietic stem cell transplant (HSC), from the body's own bone marrow, combined with the ADA gene. The current phase I/II study treated eight ADA-SCID children (ages 7-67 months) with HSC conditioned with busulfan, a treatment that helps with the engraftment process. After following patients for an average of three years, researchers have seen no adverse events related to the gene transfer. In fact, they have observed that the stem cells have successfully integrated into the patients' marrow, giving rise to genetically repaired blood cells.

In the six children with a follow-up of more than one year, white blood cell counts progressively increased and T-cell functions normalized. In addition, tests found the presence of antigen-specific antibodies (proteins that help the immune system identify and fight bacteria and viruses). In five patients, levels were high enough to discontinue supplemental antibody treatment.

"We feel that these data confirm the safety and efficacy of gene therapy in improving immune and metabolic function in children diagnosed with this form of severe combined immunodeficiency," said Alessandro Aiuti, MD, of the San Raffaele Telethon Institute for Gene Therapy in Italy and lead author of the study with Maria Grazia Roncarolo, MD. "This may represent a viable solution to reduce the mortality rates associated with SCID in newborns."

At the conclusion of the study, all participants were healthy, with no severe infections, up to six years from the treatment. Researchers noted that because the ADA genes had sustained activity in the blood cells, the children's growth and development has continued to improve.

The treatment is funded by the Italian non-profit Telethon Foundation, a major charity that raises and distributes funds in Italy for biomedical research on genetic diseases, and has recently attained Orphan Drug status from the European Medicines Agency (EMEA).

Cord Blood Mesenchymal Stem Cells for Acute Renal Failure Repair [Abstract #282]

As scientists continue to discover new applications for human stem cells, they are targeting diseases with a significant need for more efficacious treatment options. Until recently, pharmacologic therapies for acute renal failure have been generally unsuccessful, so the potential therapeutic value of mesenchymal stem cells (MSCs) is particularly intriguing.

In this study, a team of researchers in Italy obtained MSCs from full-term umbilical cord blood to test their therapeutic value on renal tissue in mice with acute renal failure. The team successfully isolated MSCs from approximately 18 percent of the processed cord blood units, confirming the rate obtained by other stem cell studies. Testing of the MSCs also confirmed certain characteristics that help induce tissue repair, like the development of bone and cartilage.

Ten immunocompromised mice with acute renal failure received either cord blood MSCs or intravenous saline (control) and were evaluated for renal function and histology. Renal tissue was evaluated at day four and assigned a score (0-3) measuring the level of damage.

The MSCs significantly protected the mice from renal function impairment at day four, which was noted by reduced levels of blood urea nitrogen (a waste byproduct caused by kidney malfunction) from 115 mg/dl (saline) to 64 mg/dl (MSCs). Tissue damage was also reduced in the stem cell-treated mice (score of 0.5) compared to saline-treated mice (score of 1.0) as demonstrated by Marina Morigi, PhD, of Mario Negri Institute of Pharmacological Research in Bergamo, Italy, who conducted the in vivo study.

"These preliminary results indicate that human mesenchymal stem cells do exhibit reparative potential in acute renal failure," said Lorenza Lazzari, PhD, of the Cell Factory, Department of Regenerative Medicine at Fondazione Policlinico in Milano, Italy, and lead author of the study. "With more evidence demonstrating their value in human subjects, the unique therapy of human stem cells may offer patients with renal failure a safer and more effective way to combat the illness."

This study was sponsored by European Community.

The American Society of Hematology (http://www.hematology.org) is the world's largest professional society concerned with the causes and treatment of blood disorders. Its mission is to further the understanding, diagnosis, treatment, and prevention of disorders affecting blood, bone marrow, and the immunologic, hemostatic, and vascular systems, by promoting research, clinical care, education, training, and advocacy in hematology.

http://biz.yahoo.com/prnews/061210/dcsu006.html?.v=1

Child with SCIDS needs help

Child with SCIDS needs help

By Chasity Brown The Daily Sentinel

Published December 8, 2006

Jackson County residents are urged to give a few minutes of their time to try to help a 3-month-old child in need of a bone marrow transplant.

Braxton Campbell Holder, son of Christopher “Camp” Holder and Stacy Robinson Holder of Goodlettsville, Tenn., has been diagnosed with Severe Combined Immunodeficiency Syndrome (SCIDS) in November and is awaiting a bone marrow transplant. SCIDS is more commonly called “The Boy in the Bubble” disease because his body is unable to generate its own immune system. In the 1970s, a made-for-TV movie starring John Travolta highlighted this disease.

Camp and his parents (Braxton’s grandparents), Pam and Fred Rudder Holder, are former residents of Scottsboro, and they still have relatives in the area.

Braxton’s great-aunt Ramona Campbell Collins of Scottsboro is organizing a blood and bone marrow drive at Harbin Ford Motor Co. on Monday, Dec. 11 from 11 a.m. until 6:30 p.m. in hopes of finding a match for the transplant. Blood Assurance will be conducting the drive and asks that anyone interested in being tested contact Ramona Collins at 599-2945 to schedule a convenient time to be tested that day. Walk-ins will also be welcome.

The bone marrow test is very simple, involving only a Q-tip swab of the individual’s mouth. However, Blood Assurance asks that everyone donate a pint of blood to offset the cost of typing the bone marrow. After being tested at this drive, your name would be placed on the National Bone Marrow Donor Program’s registry to be contacted in the future if you match a needed individual. At that time, you would be able to decline if you so choose.

For more information about the actual bone marrow donation procedure, visit the website www.marrow.org.

Linkback URL: http://www.thedailysentinel.com/story.lasso?ewcd=bf9db6076bb62469

Baby With Rare Disease Needs Bone Marrow Transplant

Baby With Rare Disease Needs Bone Marrow Transplant

SEATTLE -- The family of a 3-month-old Spokane boy who is suffering from a rare immunodeficiency disease is searching for a potential bone marrow donor.

Caden Atchley is being treated at Children's Hospital in Seattle for Severe Combined Immunodeficiency Syndrome, or SCIDS, a disease that leaves him highly susceptible to infection.

"He can't even fight off the common cold," said Melissa Atchley, his mother. "He has absolutely no immune system, so if he was to catch a cold, it could be totally deadly to him."

Video: Spokane Baby Awaits Bone Marrow Transplant

He cannot survive outside a hospital room without medication and needs a bone marrow transplant.

Doctors said Caden could stay healthy on medication for a while, but a bone marrow transplant is the only thing that will save him.

"People like Caden, in order for them to lead a normal life, in order for them to survive at all they need those bone marrow transplants," said Dr. Jeff Otjen of Children's Hospital.

So far, no family members or friends are a match, so the Atchleys are asking everyone to be tested.

"We're going to find one," said Josh Atchley, Caden's father. "Somebody out there's going to do it."

Finding that person will be difficult.

"With Caden's background, with me having a little Hispanic in me, that's going to make it that much for difficult for Caden to have a match," said Melissa Atchely.

National Marrow Donor Program National Marrow Donor Program Sites
Inland Northwest Blood Center
Matchmaker Program, for mixed race bone marrow donors

Go to the links above to see how easy it is for you to be tested as a compatible donor -- to save a life.

Linkback URL: http://www.kirotv.com/health/10478126/detail.html

Baby afflicted by rare disease

Baby afflicted by rare disease
By Lacee A.C. Martinez
Pacific Daily News
lcmaritnez@ guampdn.com

Maria Hope Diaz will turn 1 on Thursday, but won't be on island to celebrate the occasion with her extended family.

That's because Maria Hope is undergoing chemotherapy at the University of California San Francisco Children's Hospital. Maria Hope is battling a rare immune deficiency called Severe Combined Immunodeficiency, or SCID.

After completing a nine-day regimen of chemotherapy, Maria Hope is expected to undergo a bone marrow transplant Wednesday, California time. It will be her birthday, Guam time, when her family members will celebrate with a fundraiser to help raise awareness about her condition.

Shortly after Maria Hope was diagnosed, the family talked of forming a foundation to raise awareness about the affliction, said Chelsa Muna Brecht, a close relative of the family.

"None of us had even heard about SCID until it happened to us," Brecht said. "Doctors are saying that a lot of these cases go misdiagnosed. So the primary goal of the fundraiser is to educate the community, God forbid should we ever have to see it again."

The condition is extremely rare, occurring in 1 in 500,000 to 1 in 1,000,000 people, said Dr. Thomas Shieh, president of the GMH medical staff. Those with SCID have an absence of T cells, which results in B cells not functioning as well, he said.

"These are the cells within our bone marrow that produces antibodies to fight off diseases," Shieh said.

'Bubble boy'

It's commonly referred to as "bubble boy syndrome", popularized by the 1976 made-for-TV movie, "The Boy in the Plastic Bubble," starring John Travolta.

Patients before had to live in a germ-free environment using plastic bubbles and suits, Shieh said. Advances in medicine, he said, have allowed doctors to know what SCID is and how to effectively treat the disease.

"The fact is this, it is very rare, and Guam probably would not see another case base on the statistic incidence," Shieh said.

Felicita Pablo Diaz, Maria Hope's mother, said her baby was born without complications on Dec. 7 of last year.

Maria Hope developed a cold and mild cough when she was four months old, from which she had difficulty recovering. Weeks later, Maria Hope developed more illnesses, before she was finally admitted to Guam Memorial Hospital.

Her condition worsened when she developed a case of pneumonia that she could barely fight, Diaz said.

The baby had to be flown to St. Luke's Medical Center in the Philippines for additional treatment and further testing, Diaz said.

By June 30, tests concluded that Maria Hope had SCID. During the next few months, she remained at the hospital, building her strength for the transfer to the San Francisco facility for further treatment.

Since the second week of November, Maria Hope has been at the children's hospital awaiting the needed bone marrow transplant she will receive from her mother.

"Mommy was the initial choice as the donor," Diaz said.

Stem cells that produce blood and antibodies are located in bone marrow, Shieh said.

"By replacing the entire bone marrow, we hope that the body takes over this 'new marrow' and begins to function normally," Shieh said.

Strong support

To help offset her treatment costs, Maria Hope's family initially held fundraisers, including a golf tournament, car washes and exclusive movie reservations at the Micronesia Mall Theaters, Brecht said.

"We didn't want to ask people to give us money without having something (for them) to take away," Brecht said.

Diaz hasn't dismissed the efforts of those closest to her family in their support to help Maria Hope receive the treatment she needs.

"Our families, friends, co-workers and business associates have assisted us in one way or another," Diaz said. "Through their love, support, and most importantly their prayers, Maria has made it to San Francisco."

Linkback URL: http://www.guampdn.com/apps/pbcs.dll/article?AID=/20061204/NEWS01/
612040302/1002

Death of 3-year-old spurs Ottawa school to hold auction to help pay medical bills

Death of 3-year-old spurs Ottawa school to hold auction to help pay medical bills

By Eric Weslander

Thursday, November 30, 2006

During her short life, 3-year-old Ottawa resident Chloe Robinson developed a love for knock-knock jokes. She told them to anyone who would listen: doctors, nurses, family members. Her favorite:

Knock, knock.

Who’s there?

Boo.

Boo who?

Don’t cry, it’s just a joke.

“We joked that she knew every knock-knock joke that you could ever know,” said her mother, Chrissy. “She was very smart for being locked up in the hospital room.”

Chloe died earlier this month at Children’s Mercy Hospital in Kansas City, Mo., after a lifelong battle with severe combined immunodeficiency, or SCID. This weekend, the Ottawa elementary school where Chloe’s father works is holding a silent auction fundraiser to help the family defray its medical costs, which haven’t yet been tallied.

“Anyone that’s seen pictures of Chloe or heard about her struggle ... you couldn’t help but fall in love with her,” said Tori Wilson, a technology aide at Garfield Elementary School in Ottawa. “That same spirit is alive in Josh and Chrissy too ... They’re part of us.”’

The auction will be from 9 a.m. to 4 p.m. Saturday at the elementary school. Items donated include autographed Kansas City Chiefs memorabilia and Kansas University men’s basketball tickets from coach Bill Self’s personal allotment, Wilson said.

If there’s any money left over from paying bills, the family plans to use it to help start a foundation in their daughter’s memory that will help other families in a similar situation.

“Rather than continue to ask why, we’re starting to decide what we can do to make sure that, even though she died early, her life was still meaningful,” said her father, Josh, a first-grade teacher.

Chloe was born in August 2003 in Lawrence. From birth, she had chronic gastrointestinal problems that were later attributed to her immune system.

She spent only a few weeks of her life in Ottawa. The rest of her time was spent under medical care in Kansas City, Nebraska, Boston, North Carolina and finally in Cincinnati, where she received a bone-marrow transplant early this year aimed at replacing T-cells in her body.

“On her transplant day, we threw a big tea party,” Josh Robinson said. “Since then, tea parties were her favorite thing to do.”

She had a way of making adults laugh, her parents said. They said that once, when she went into surgery, a hospital employee came out laughing because Chloe had been telling knock-knock jokes up until the point that she went under anesthesia.

After her bone-marrow transplant, her immune system improved. But in August of this year, her liver began to fail.

For the last weeks of her life, she left the hospital where she’d been staying in Cincinnati and returned to Children’s Mercy in Kansas City.

“We were basically sent back to Children’s Mercy with the understanding that her liver was going into failure, and we wanted her to be closer to home, wanted her to be able to spend time with her family,” Josh Robinson said. “I don’t think she knew necessarily that she was dying, but we got the sense that she knew something wasn’t right.”

Near the end, the decline in her health happened quickly. Even on her last day, when she developed internal bleeding, she had been sitting up in bed, painting, telling jokes and reading books with people, her father said. She died Nov. 11.

“Our greatest fear, knowing that she was dying, was that we were going to have to be the ones to decide to turn something off or stop something. There weren’t any choices. It was that quick,” Josh Robinson said. “She curled up with her mom and went to sleep.”

At her memorial service, the Robinsons had a photo of Chloe with room for visitors to write a knock-knock joke around the edges. They also gave away tea bags with a note that said, “With your next cup of tea, think of Chloe.”

The Robinsons said they’re grateful for the help they’ve received from the community.

“It’s been amazing,” Josh Robinson said.

Linkback URL: http://www2.ljworld.com/news/2006/nov/30/
death_3yearold_spurs_ottawa_school_hold_auction_he/

Duke takes strides in stem cell research

Jasten McGowan

Posted: 11/29/06

Since stem cell treatments first became a possibility in medicine during the 1960s, Duke University Medical Center researchers and physicians have played a major role in advancing their increasingly complex uses.

In recent years, DUMC has worked to create a number of unique methods to apply stem cells to the treatment of cancer and rare diseases.

Linkback URL: http://www.dukechronicle.com/media/storage/paper884/news/2006/11/29/News/
Duke-Takes.Strides.In.Stem.Cell.Research-2512288.shtml?norewrite200612110815&
sourcedomain=www.dukechronicle.com

"Stem cells were once used as a last-ditch effort," said Dr. Keith Sullivan, director of Duke's Center for Cancer Outcomes and Research. "But, with Duke's reputation for the treatment of rare and complex diseases, things are rapidly changing."

Sullivan is lead investigator of the trial study Scleroderma: Cyclophosphamide or Transplantation, which treats patients suffering from severe forms of the rare skin disease commonly known as systemic sclerosis.

The trial compares stem cell treatment to high-dose drug treatment using cyclophosphamide, a chemotherapy agent used to treat chronic immunosuppression.

Sullivan's SCOT trial approach, however, is merely one of many at Duke that applies variations to the traditional approach to stem cells, which once required perfect matches with varying results.

Dr. Rebecca Buckley, professor of allergy and immunology in Duke's department of pediatrics, studies treatments for severe combined immunodeficiency disease, or "bubble boy disease," which is caused by abnormal changes in the development of the T cells of the immune system.

Buckley has utilized methods that rid bone marrow of T cells, which are regenerated upon implantation.

"Unlike bone marrow [stem] cells requiring perfect matches, our approach doesn't require a perfect match," said Buckley, who has utilized stem cell transplants since the 1980s. "The 34 patients we've lost over the years were due to viral infection."

Buckley said methods of "manipulating stem cells to avoid the hindrance of the perfect match" are prevalent among Duke researchers.

"We have one of the largest stem cell reserves in the nation," Buckley said.

While scientists lobby for increased reserves of available stem cells-through increased blood donation in various forms-approaches to stem cell treatment for cancers and rare diseases are becoming increasingly complex.

Joanne Kurtzberg, director of the Pediatric Bone Marrow and Stem Cell Transplant Program and the Carolinas Cord Blood Bank at Duke, said the use of cord blood stem cells presents growing opportunities for children and some adults suffering from various cancer types and children with rare immune diseases.

Cord blood cells present alternatives to what were once "dead ends" in treatment options for some conditions, she said.

"For patients lacking sufficient bone marrow matches, this is their only choice," Kurtzberg said. Stem cells from cord blood are currently used to treat patients with cancers, certain genetic blood disorders and metabolic diseases.

Kurtzberg said that while it is likely that many types of stem cells will be used therapeutically over the next few decades, it is important to conduct research to determine the optimal ways to utilize them as therapeutic agents.

"While there are limited options for any one condition, approaches are changing," she said.

Stories of Lives Saved by Cord Blood

November 26, 2006
Stories of Lives Saved by Cord Blood - Larry Mitchell

The advancements of medicine and technology are saving lives each year that would otherwise be lost to disease or medical disorder. Each year, more and more children are living through potentially terminal diseases and battling their way back to health with help of cord blood. Cord blood is found within the umbilical cord and preserved upon the birth of the child. Since the blood contains stem cells, numerous diseases and disorders are successfully treated and even cured through transplants. Parents today are choosing to either bank cord blood for future use or donate their newborn’s cord blood so that ill children can take advantage of this life-saving blood.

An inspiring case is that of siblings Ashley and Kelvin J. of Maryland. These two children were both born with severe combined immunodeficiency syndrome that is usually terminal, since the body’s immune system cannot fend off the germs that would otherwise be harmless to a healthy body. Projected life span for children diagnosed with severe combined immunodeficiency syndrome (SCIDS) is approximately six months; however, both Ashley and Kelvin received a transplant of cord blood from anonymous donors whose cord blood was donated to public blood banks......

Linkback URL: http://cordblood.okat.us/cord-blood/
stories-of-lives-saved-by-cord-blood-larry-mitchell-2

NIH Launches 'Health Info Rx Program' On Newborn Screening And Related Genetic Disorders

NIH Launches 'Health Info Rx Program' On Newborn Screening And Related Genetic Disorders
Article Date: 26 Nov 2006 - 2:00 PST


After a doctor sees a patient, he or she often prescribes medications. But what if such a doctor also wants to direct a patient to up-to-date, reliable, consumer-friendly information about a genetic condition, or an explanation of the basics of genetic science? Under a new program launched today, practitioners are being encouraged to refer their patients to Genetics Home Reference, a free, patient-friendly Web site of the National Institutes of Health (NIH), at http://www.nlm.nih.gov/.

Under this program, doctors can request free "Information Rx" pads, which will enable them to write "prescriptions," pointing patients to the Genetics Home Reference site and to the wealth of information it contains. Obstetricians can direct their patients to the site's explanation of newborn screening, so expectant mothers will better understand why this testing will be important for their baby.

Pediatricians and family physicians who see new moms and dads often provide good advice on newborn or child care concerns. If there happens to be a problem detected in a screening, where should this doctor direct the concerned parents for reliable, easy-to-read information at a stressful time? NIH's Genetics Home Reference can be an invaluable resource.

All states screen newborns for certain genetic disorders. These conditions are usually not apparent in the newborn, but can cause physical problems, mental retardation and, in some cases, death.

Micki Gartzke, a patient advocate from Shorewood, Wisconsin, lost her 13-month-old daughter, LeA Marie, to a rare genetic disorder, Krabbe disease, in 1987. "As a parent, of course you want every possible piece of information when you find out your child is sick. The Internet back then was in its infancy --resources were scattered and I did a lot of hunting and pecking to find things that would help us. It's so gratifying to see a resource like Genetics Home Reference, which has collected and organized a wealth of helpful materials into a one-stop shopping experience. I know that it is of great relief to parents I work with through Hunter's Hope, the foundation to help families coping with Krabbe disease, and parents around the country."

Fortunately, most babies receive a clean bill of health when tested. When test results show that a baby has a health defect, however, early diagnosis and treatment can make the difference between lifelong disabilities and optimal development.

Four of the nation's most respected medical associations, with a combined membership of over 200,000, have teamed with two NIH institutes on this groundbreaking initiative. The National Library of Medicine (NLM), the world's largest medical library, and the National Institute of Child Health and Human Development (NICHD), the research arm of NIH dedicated to ensuring that every child in the U.S. is born healthy and grows up free from disease and disability, have entered into partnerships with the American Academy of Pediatrics (AAP), the American Academy of Family Physicians (AAFP), the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) to encourage physicians to point patients to first-rate online health information in NLM's Genetics Home Reference database.

"Part of a physician's job is to explain illnesses, diagnoses and treatments to their patients," says Donald A.B. Lindberg, MD, Director of the National Library of Medicine. "NLM's Genetics Home Reference provides authoritative, user-friendly, and commercial-free information that doctors can use to supplement information provided in the office or clinic. We think it saves time and improves doctors' communications with patients, in addition to its obvious value in helping keep babies healthy."

"Physicians have always known that an informed patient who takes an active role is a 'better' patient," notes Duane Alexander, MD, Director of the National Institute of Child Health and Hunan Development. "We believe that both patients and their doctors will welcome this additional tool -- good medical information -- in their continuing efforts to provide good health care, for newborns and for people of all ages."

###

Genetics Home Reference includes over 500 topics on genetic conditions and related genes. The site features a richly illustrated tutorial that explains the basics of genetics, from the cellular level on up, and a glossary of genetics terms. The site is regularly updated by scientific staff and reviewed by external experts.

A similar Information Rx Project, pointing patients to NLM's MedlinePlus database (http://medlineplus.gov/), was launched in 2003. That program has been well received by doctors and their patients nationwide, helping doctors direct patients to NLM's MedlinePlus database, with information on over 700 health topics and many other resources.

Located in Bethesda, Maryland, the National Library of Medicine is the world's largest library of the health sciences. For more information, visit the Web site at http://www.nlm.nih.gov/.

The National Institutes of Health (NIH) -- The Nation's Medical Research Agency -- includes 27 Institutes and Centers and is a component of the U. S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical, and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nlm.nih.gov/.

Contact: Robert Mehnert
NIH/National Library of Medicine

linkback URL: http://www.medicalnewstoday.com/medicalnews.php?newsid=57201

Cystic Fibrosis Added to Newborn Screening Program

Cystic Fibrosis Added to Newborn Screening Program
Josh Pringle
Thursday, November 23, 2006

Ontario is adding cystic fibrosis to the list of screening tests for new babies under the Newborn Screening Program.

Starting late next year, newborn babies in Ontario will be tested for cystic fibrosis in addition to 27 other diseases.

Health Minister George Smitherman says early detection of the disease in newborns will help ensure they receive proper care as soon as possible.

backlink url: http://www.cfra.com/headlines/index.asp?cat=1&nid=44778

Proposed Rule Changes Aim To Strengthen Newborn Screening In Minnesota

Proposed Rule Changes Aim To Strengthen Newborn Screening In Minnesota

November 21, 2006 -- The Minnesota Department of Health (MDH) is proposing changes to rules affecting the screening of all newborn infants in the state for an array of congenital and inherited diseases that can often be life-threatening or debilitating. The changes would bring the rules up-to-date with recent changes in newborn screening laws made by the Legislature and with changes in the screening process as a result of scientific and technological advances. They also would further clarify the roles of MDH, hospitals and health care providers.

The department published its notice of intent to adopt changes in the newborn screening rules in the Nov. 20, 2006 State Register. The public has until Friday, Dec. 29, 2006 to comment on the proposed changes. If MDH receives 25 or more requests for a hearing, a public hearing on the proposed rules will be held on Tuesday, Jan. 23, 2007 at 9 a.m. in the Freeman Building of the Minnesota Department of Health, 625 Robert Street N, St. Paul, Minnesota 55155.

linkback url: http://www.allamericanpatriots.com/m-news+article+storyid-17139.html

Close Up: The Boy in the Bubble

Close Up: The Boy in the Bubble

James Thompson Richards


Nov 16, 2006

James Thompson Richards looks like any normal 13-year-old boy.

But he is not.

James was born with Severe Combined Immune Deficiency Syndrome - SCIDS. With no immune system he has spent most of his life in sanitised isolation.

"Just say I get the flu or I catch flu from someone in my class, I get it like four times as bad. But I feel like i've got the flu every day. Its' just like eating, It's just part of my life," James told Close Up.

Only around one in 50,000 people have this condition.

His first years were spent in isolation at Auckland's Starship Hospital, then later, alone in a sanitised room at home.

"When I was little I couldn't cuddle...or see my brothers, i'd just see them at the door they couldn't come in unless they wore gloves and masks."

James had a bone marrow transplant in Australia when he was five, but that was unsuccessful. And doctors say chemotherapy is out of the question because of his failing health, which includes chronic lung disease.

"When the professors told me in Sydney that there was nothing more they could do for him that he's never going to get better, that made me the decision at that time that I was going to tell James the truth about everything," says James' mum Jean.

James says he takes things day by day, which means alternating visits to Taranaki and Starship Hospitals every three months, where he stays for two week stints. Then there is the immunoglobulin antibiotics he injects into his belly at home, which he has done every second day, for the past six years.

Long term there is one long shot.

While researching James' condition on the internet, the family read about 11 boys in Europe with his condition, who were apparently cured using stem cell therapy.

But for James and his family, heading overseas is a huge and costly gamble.

"He's not a good candidate for it because his lungs have deteriorated too much...but these boys had a simialr if not worse prognosis," says James' dad Garth.

Taranaki Base Hospital agreed to talk to Close Up about James' condition, but pulled out of the interview after Jean and Garth said they also wanted to talk about stem cell therapy. It said it wasn't policy to talk about that subject.

Starship Hospital wouldn't talk about James' case specifically, but sent Close Up a statement about the use of stem cell therapy as treatment for people with severe combined immuno deficiency syndrome:

"A bone marrow transplant is always the preferred option for SCIDS patients. Gene therapy can help some. But because there's only small number of people with the condition in New Zealand, it's not available here."

While stem cell therapy overseas is a risky option for James - and a hugely expensive one for his family - the mere hope it could give him a better life means they are prepared to try to get him there.

They have been in touch with doctors at Great Ormond Street Hospital in England and are preparing a fundraiser to get him there.

Linkback URL: http://tvnz.co.nz/view/page/411416/894326

Newborn Screening: Complexities in Universal Genetic Testing

The following is an excerpt from:
Newborn Screening: Complexities in Universal Genetic Testing
By Green, Nancy S; Dolan, Siobhan M; Murray, Thomas H

It was originally published in The American Journal of Public Health. I found the article through RedOrbit at
http://www.redorbit.com/news/health/725943/
newborn_screening_complexities_in_universal_genetic_testing/index.html?source=r_health on November 10, 2006. You can read the complete article by following the link. The title of this article is also linked to the RedOrbit article for as a long as it's there.
One of the authors, Nancy Green, is the Medical Director, March of Dimes Birth Defect Foundation. (and I thought the March of Dimes advocated for newborn screening and the health of children; this makes you wonder for whom they really are advocating. I mean what part of "uniformly fatal if left untreated" doesn't she understand?)

"THE FUTURE

Newborn genetic screening has been a remarkable achievement for public health, providing populationwide detection of disorders that leads to improved clinical outcomes. Advances in medical genetics and testing technology permit the diagnosis of ever more diseases but also compel society to reconsider how NBS as a public health measure may best serve children, their families, and their communities. Powerful multiplex test technologies can identify children with anomalies that may-or may not-lead to disease. They can also find children for whom no treatment is yet available. Weighing the costs, risks, and benefits of screening in such cases is complex and will require consideration of the full range of costs and potential nonmedical benefits.33

New knowledge and NBS technologies raise additional challenges. For example, some experts advocate NBS for severe combined immunodeficiency, a uniformly fatal disorder if untreated and for which early diagnosis can lead to lifesaving bone marrow transplantation therapy.36 However, such treatments may not be within the moral compass of public health, as they are associated with risks of morbidity and mortality, expensive, and not universally available to all affected infants. Similar considerations arise with lysosomal storage disorders.37 Policy decisions will become increasingly complex and controversial regarding the use of NBS, understood as a public health measure to identify newborns with treatable diseases, when it is extended to include detecting genes with incomplete penetrance, genes for a given disease that only partially predict that disease, and disorders that cannot be successfully treated or for which treatment is available only to some newborns so identified.

In addition to the traditional single-gene disorders, conditions affected by multiple genes and gene-environment interactions raise additional possibilities for incorporating new disorders into NBS programs. Indeed, NBS for common complex diseases,38 such as asthma, is under consideration,39 with pilot screening for genetic susceptibility to diabetes40 already under way for early institution of prevention strategies for those at risk. These trends will likely push NBS programs and society to discuss the implications of revealing disease susceptibility rather than making a specific diagnosis in the first months of life.41 Some commentators have gone as far as to suggest a broad analysis of individual genomic variation from a NBS sample.42

NBS requires more resources to take advantage of current and future opportunities and challenges, including the creation of national consensus guidelines for screening and follow-up to establish universal minimal screening standards for the United States. Proposals to improve NBS, such as proposed test standards11 and key recommendations on NBS made by the American Academy of Pediatrics6 and the American College of Medical Genetics,8 are already sparking broad debate within the world of public health. These national efforts require sufficient support from the federal health system for translation to state programs and should result in identifying and standardizing best screening policies and practices across the United States; providing adequate resources for programs to incorporate long-term specialty treatment, genetic counseling and referral, and educational outreach to consumers and health providers; and increasing research capacity for well-designed prospective studies on the predictive value and clinical effectiveness of expanded screening and treatment.

As a public health program, NBS has done enormous good. New technologies and new forces are pushing NBS into unfamiliar territory, to which NBS must actively react to set its course for a sound future."

Linkback URL: http://www.redorbit.com/news/health/725943/
newborn_screening_complexities_in_universal_genetic_testing/index.html?source=r_health