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

December 26, 2006

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.


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Better Treatment: Defect No Longer Means Life in a Bubble

December 26, 2006

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

December 25, 2006

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

December 21, 2006

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

December 21, 2006

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

December 20, 2006

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

December 13, 2006

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

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