Granton Bayless grows even stronger in ’09

Former ‘bubble boy’ adds kid sister Kaylynn to list of adoring fans

By Sarah West
sarahw@bolivarmonews.com

Published: Thursday, December 31, 2009 5:05 AM CST Cartoon “Jay Jay the Jet Plane” is flickering on the TV screen, and 2-year-old Granton Bayless is absorbed in it, for the moment.

The IV in his shoulder has been there for three hours — it will boost his immunity while his body works on creating B cells that fight antigens.

Granton was diagnosed with severe combined immunodeficiency, or SCID, in March 2008 and also fought respiratory syncytial virus and pneumocystic pneumonia during his six-month stay at the pediatric intensive care unit of Children’s Mercy Hospital in Kansas City. SCID is commonly referred to as “bubble boy disease” and can lead to reduced or malfunctioning white blood cells that fight infection.

In June 2008, Granton received a life-saving cord blood transplant that gave him a new immune system. The donor B cells, of which he has retained 16 percent at his last B cell count, also “remember” the antigen, immunizing him against it for the future. His own B cells fight infection only a little bit, Daniel said.

“He still doesn’t have all of his B cells back in, so he gets a little boost now and then,” dad Daniel says.

“Once a month,” mom Jenni adds.

When the technician removes the IV, Granton is at first upset. Like any 2-year-old, he is not fond of needles and the process is not a comfortable one. Unlike other 2-year-olds, however, Granton has felt the stick of many, many needles.

In moments, Granton is over his hurt feelings about the needle and is up, somersaulting, flexing his muscles, lifting things, riding his horsey, identifying letters in a Cookie Monster book and, most miraculously, smiling, healthy and here.

Granton celebrated his second birthday Oct. 2 and his one-year anniversary of leaving the hospital Nov. 24. Before that, on Easter, he welcomed baby sister Kaylynn to the family.

“When she first came along, he was pretty much indifferent,” Daniel said.

Granton enjoys being big brother and bossing little sis around.

“He likes to tell her, ‘No, no, Kaynee. No, no,’” Daniel said.

“They’re pretty good buddies,” Jenni said.

The Baylesses have spent the last two winters in some trepidation, Jenni said, but so far, Granton has been blessed with good health.

“He hasn’t gotten sick,” Jenni said. “He’s had little sniffles, colds every now and then. He hasn’t had a fever in a long time.”

Concern that Granton could catch H1N1 has kept Granton indoors most of this winter, but he will have freedom again in the spring, Daniel said.

His parents were worried, though, when Daniel became ill in the fall. Daniel said he quarantined himself in a different part of the house.

“I was really concerned he would get it,” Daniel said. “But he never had a symptom. He was fine.”

Daniel is an English teacher, head track coach at Bolivar High School and wrestling coach at Bolivar Middle School. He said he often returns home from wrestling practice covered in sweat and immediately showers.

“I’m around kids all day and some of them are inevitably sick,” Daniel said. “I go straight to the shower before I touch him.”

Granton shows off his knowledge of words and letters during and after his IVIG treatment, pointing out his Mickey Mouse plate and where the needle was, saying “stuck.” The IVIG process could eventually become a shot once a week, Jenni said. Granton wouldn’t have to be immobile for three hours with a needle in his arm.

“Which is nothing compared to the things we’ve had before,” Daniel said.

Christmas lights inspired Granton to say “Wow,” a lot, Jenni said. His language development is also exciting for parents who were told their son may have issues learning.

The Baylesses have memories — bad ones — of their son at 6 months, fighting for his life. But another blessing with Granton’s recovery is watching bad memories turn into good ones. On Easter in 2008, Granton entered the hospital to stay for six months. On Easter in 2009, Kaylynn, or “Kaynee,” joined the group.

“We had some really bad memories of Easter, and now we have some really good memories of Easter,” Daniel said.

“It was pretty important for us, because it made us think about the importance of Easter,” Jenni said.

His shoes make cute squeaking sounds with every hop he makes, and with every hop, an exuberant Granton repeats “Yeah!” He gravitates to Dad’s lap, demanding a reading from a Cookie Monster book and names letters correctly when Daniel points at them.

Granton didn’t have his nap before receiving his IVIG treatment, but his mischievous somersault attempts into his sister after Daniel asks him to kiss her demonstrate the energy bubbling beneath the surface of the former “bubble boy.”

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Major breakthrough for gene therapy

Major breakthrough for gene therapy

December 20, 7:17 AMKitsap County Liberal ExaminerJoseph Aprile

There are a host of diseases that are a direct result of a mutation in a single gene. Examples of this kind of disease are many including sickle cell anemia, severe combined immunodeficiency disease (SCID) and many others. The world famous Nobel prize-winning chemist, Linus Pauling (1901-1994) coined the term Molecular Disease to refer to this type of illness.

In the past, this type of illness has been impervious to the possibility of a cure, since its origin resides in the very makeup of an individual’s heredity as expressed through the genes. Recent advances in molecular biology and gene therapy have demonstrated that this daunting limitation can be effectively breached. SCID is a particularly devastating and ultimately fatal disease in which the affected child has no defense against infections. Through the ground breaking work of Dr. Alessandro Aiuti, ten patients suffering from SCID are still alive. The mutated gene in this condition is the ADA gene. The laboratory of Dr. Aiuti from the San Raffaele Institute for Gene Therapy in Milan successfully used the following procedure: bone marrow cells from the patients involved were incubated with a specially engineered virus containing the normal ADA gene. These engineered cells were reintroduced into the patients. Positive results were seen almost immediately following treatment. A similar approach has been used in the treatment of a disease characterized by a congenital degeneration of the retina. In this study four of six patients had a notable improvement of vision.

The latest advance has been made with Adrenoleukodystophy (ALD), a disease linked to the X chromosome. This is a severe neurodegenerative disease that leads to destruction of myelin, the outer membrane of nerve cells, in the brain and severe nervous system dysfunction. This disease is caused by a mutation in the ABCD1 gene. The first successful clinical test using gene therapy for ALD has recently been reported by Dr. Nathalie Cartier and his colleagues from the University of Paris-Descartes in Paris, France. The approach used was to take hematopoietic stem cells (HCS) from two young male patients and incubate their cells with a virus that was engineered to carry the normal ABCD1 gene. These modified cells were then reintroduced to the patients. Eventually, blood cells with the normal gene were found distributed throughout each patient’s body. Within 14 to 16 months post treatment, cerebral demyelination was arrested and neurological and cognitive functions remained stable. The patients’ own cells were used in this procedure; this avoids any need for a donor and obviates any concern of possible rejection. This is an extraordinary result and has profound implications for the future of gene therapy in medicine.

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State is first to test newborns for T-cell deficiency diseases

State is first to test newborns for T-cell deficiency diseases

By Mark Johnson of the Journal Sentinel

Posted: Dec. 11, 2009

Wisconsin, the first state to screen newborns for “bubble boy disease,” has now become the first to test for the broad family of diseases known as T-cell lymphopenia, a development that could change detection and treatment of these illnesses around the world.

In January 2008, the state began testing drops of blood taken from the heels of babies in their first 24 to 36 hours in order to screen for “bubble boy disease,” a rare immune system disorder marked by the presence of virtually no T-cells, which defend the body against invaders.

“Bubble boy disease,” more formally known as severe combined immune deficiency, is thought to occur in between 1 in 50,000 and 1 in 100,000 infants, and the screen has yet to pick up a case in Wisconsin.

However, doctors from the Medical College of Wisconsin write in this week’s Journal of the American Medical Association that the screen has a wider application in detecting diseases marked by a deficiency in T-cells. In the course of a year, Wisconsin tested 71,000 babies and found that eight had such a deficiency. Doctors were able to treat the one infant who had a severe T-cell deficiency, using a bone marrow transplant to essentially replace a faulty immune system.

“In 2008, the first year, we picked up a baby that had a severe immunodeficiency with T-cell lymphopenia. If the baby didn’t get a bone marrow transplant, it would have died,” said John M. Routes, section chief in the division of allergy and immunology at the Medical College and lead author of the paper. “The baby was given a bone marrow transplant here at Children’s (Hospital of Wisconsin), and he’s doing fine.”

Wisconsin screens all newborns for 48 different disorders, well above the federal recommendation of 29 disorders.

Long-term effect

Although cases of “bubble boy disease” and T-cell lymphopenia are not frequent, doctors said the new screening could have a profound effect. The long-term survival rate is significantly higher when babies with the disease receive a bone marrow transplant in the first month of life than it is when they receive the transplant after six months.

But up to now, T-cell deficiencies in infants have often gone undetected. The babies get very sick from infections, fail to gain weight and often bounce from one hospital to another as doctors struggle to find an explanation for their health problems. The diseases are difficult to diagnose because the children come to the hospital with seemingly common problems – ear infections, for example.

Doctors have had to be trained to look for signs that the common ailment is actually being caused by something far more sinister and severe. Even then, T-cell lymphopenias may not be picked up until a child is very sick.

With early screenings, “there’s the potential for people to never again see a very sick patient (from these diseases),” said Kate Sullivan, an associate professor of pediatrics at the University of Pennsylvania. “It could be a completely different landscape for immunology.”

“There have been papers on the technique, but this is the first paper to do it live – to run the screening and look at the results,” said Ramsay Fuleihan, an associate professor of pediatrics at Northwestern University’s Feinberg School of Medicine.

Fuleihan said it would be interesting to look at the long-term outcomes of the patients identified with T-cell lymphopenia “to see what their needs are.”

Other states follow suit

In February, the state of Massachusetts followed Wisconsin and began performing the new T-cell lymphopenia screening. Other states, including Louisiana, Illinois, Minnesota and Iowa, are considering adding the test. Brazil, Sweden and Saudi Arabia also have expressed interest in adopting the screening.

“We are committed to helping any state get this up and going,” Routes said. “We have a manual of how to do this, A to Z.”

Routes said the cost of the screening is about $5 to $5.50 per infant. In Wisconsin, that cost has been picked up through grants from the Jeffrey Model Foundation, Children’s Hospital of Wisconsin, the Wisconsin State Laboratory of Hygiene and the Centers for Disease Control and Prevention.

T-cell deficiencies can be treated when they’re detected early but become deadly and more costly later.

“Not only can you save lives with the tests,” Routes said, “but it would be cost effective and eventually save money.”

linkback url: http://www.jsonline.com/features/health/79025987.html

JAMA article: http://jama.ama-assn.org/cgi/content/short/302/22/2465?home

Stem cell transplant helps ‘miracle girl,’ 3

Stem cell transplant helps ‘miracle girl,’ 3

Waynesboro, Pa. – In June 2007, 7-month-old Brianna Berkey was flown to Hershey Medical Center with severe neck distension and a bad cough.

A week later, Brianna’s mother, Linda Medina of Waynesboro, received the worst news a parent could hear. Brianna was born with a primary immunodeficiency disease that prevented her from fighting infections. She had to be quarantined in a sterile environment and her only hope was a stem cell transplant.

Thanks to an unrelated donor from Florida, the transplant was successful and Brianna is now a happy and healthy 3-year-old.

Alarming news

Medina said Brianna had been coughing for more than two weeks and a local doctor said it was nothing more than a cough. The morning of June 10, 2007, Medina looked in Brianna’s crib and her daughter’s neck was severely swollen.

“I rushed her to Waynesboro Hospital and she was flown to Hershey,” said Medina, 24. “I wasn’t allowed to go with her and they said they couldn’t fly too high or else her neck would pop. You don’t know how to accept that.”

Medina said she knew in her heart Brianna was sicker than doctors led on.

It took a week, but after numerous blood tests, doctors confirmed Brianna was born with severe combined immunodeficiency disease, a genetic disease that is considered the most serious of more than 150 forms of primary immunodeficiency disorders. The same disease affected David Vetter, also known as “the bubble boy,” who was born in the 1970s. The inherited disease prevents people from fighting infections and requires a stem cell transplant for survival.

Staying germ-free

Brianna also was secluded to a sterile, plastic “bubble-like” environment for several days while she was in the hospital. She was given medicine to cure an acute form of pneumonia and thrush, a form of yeast that can infect the mouth and throat in a weakened immune system.

Medina stayed by her daughter’s side, but was not able to hold her.

“I just really couldn’t believe what was going on,” Medina said. “It was just scary.”

Brianna was discharged to her home a few weeks later. She was not allowed to be in day care and if she went out in public she had to wear a mask.

“She was more susceptible to getting life-threatening diseases,” Medina said. “She wasn’t allowed to get her vaccinations because of her weakened immune system.”

Medina stopped working to prevent bringing outside germs into her home and when family or friends visited, they had to make sure they disinfected themselves before going near Brianna.

Stem cells

If Brianna was going to see another birthday, she needed a stem cell transplant to help the count of her red blood cells, white blood cells and platelets increase to create a healthier immune system.

A donor who matches the patient’s antigen tissue is needed for a stem cell transplant, but Brianna did not have a relative who was a match. She needed an unrelated donor and thanks to the National Cord Blood Program, one was found two months later. Medina does not know who the donor was, but said the person was from Florida.

Stem cells from unrelated donors are collected from the placenta after birth. The cells do not have to be a perfect match in order for the transplant to be effective.

Dr. Kenneth Lucas, pediatric bone marrow transplant physician at Hershey, said a stem cell transplant is currently the only cure for the disease.

“If it is done early in life it is generally curative,” he said of the transplant.

He said once the transplant is complete, the patient remains in or near the hospital for at least two or three months for frequent follow-ups to make sure the immune system is working properly.

Lucas said the process requires a lot of support from the patient’s family.

“Brianna is a wonderful little child,” he said. “Her mom works hard to keep her well.”

Recovering

Medina said her daughter underwent a 10-day chemotherapy treatment to kill her bad cells before the transplant in August of 2007. They stayed in the hospital and at a nearby Ronald McDonald house for two to three months after the transplant. Once they returned to Waynesboro, Brianna had to take medicine to boost her immune system and receive check-ups and have her blood drawn from a port in her chest every few weeks. She is now considered cured and only visits the doctor once a year.

“She’s off her medication and has had her vaccinations,” Medina said. “She is in day care now and I really think she needs to be around other kids. It’s just amazing to think someone is born like that and a year and a half later be OK. I’m just grateful! She’s a miracle!”

Lilia Ritz of New York, Medina’s mother, said the process was long and difficult.
“To look at her, it looks like she hasn’t been through anything,” she said.

Brianna now enjoys Spongebob Squarepants, Dora the Explorer and playing house.

Medina said she appreciates the care the staff at Hershey provided for Brianna. She appreciates it so much she has decided to pursue a career in health care.

“I want to help people like they helped me and Brianna,” she said.

She now works for a nursing agency in Carlisle and is attending the Institute for Caregivers in Chambersburg.

Brianna is the grandddaughter of Angel Medina and Lilia Ritz and Dave and Tania Berkey. She just celebrated her third birthday Nov. 24 with a big Spongebob Squarepants birthday bash.

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