Last Chance for a Cure

Last Chance for a Cure

Up to 8 months of isolation await a young boy suffering from “bubble boy” disease.Reporter: Chris Woodard
Email Address: cwoodard@nbc15.com

POSTED: Friday, February 26, 2010 — 6:15 p.m.

Tonight 10-year-old Joshua Osborn is about to go through something many of us could never imagine.

Eight months of isolation, closed into the same room, at the same hospital await him.

His parents hope it can bring an end to his 10-year struggle with a rare disease.

After years of waiting and hoping the Osborn’s are getting their shot.

Since birth life has been a little different for Osborn.

His mother Julie says, “You think you’re coming home from the hospital with a healthy baby boy and to find out something different was a shock.”

Joshua was born without an immune system. He suffers from Severe Combined Immune Deficiency, or SCID-ADA, a one in a million disease.

Julie says, “Did I want to go down this road? Not necessarily. But when I put it in perspective of what other families deal with I do feel blessed that it hasn’t been worse.”

SCID is more commonly known as bubble boy disease, named after David Vetter a boy from Texas who spent all but the last few days of his 12 year life in a germ free bubble while doctors looked for a cure.

Things have changed a lot since then.

Joshua’s dad Clark says, “We’ve always probably been a little more cautious than the average parent but not a lot.”

Julie says, “Almost everybody that asks me says does he live in a bubble. If they don’t know him they still wonder.”

Now 10-years-old Joshua has been through a lot, including a failed bone marrow transplant and a week in intensive care at 3-years-old that almost ended his life.

Clark says, “No contest that was definitely the hardest time with him.”

Since then he’s had regular trips to Duke Children’s Hospital in North Carolina, monthly IVs and weekly shots in his legs all to basically give him a temporary immune system.

Joshua says, “It’s sort of painful.”

But for this little fighter there is new hope.

Julie says, “It was a relief to know we were going but it’s going to be a busy week to get it all done.”

Earlier this week Joshua’s parents got word he’ll be the 7th child selected to participate in a new gene therapy trial at Duke Medical Center.

The family will relocate to the hospital where Joshua will be forced to isolate himself in a hospital room for anywhere between 3 and 8 months. They leave Sunday.

Clark says, “It was an intimidating thought… with him not being able to leave that room.”

Julie says, “To know that he could possibly be completely healed and not have to have medicines anymore, it’s worth it.”

The most simplified explanation is that his own marrow is taken out, the defect with the immune system is fixed and they put it back in.

Josh says, “I know it’s not going to be dangerous but there are risks I heard. I’m not really afraid of that.”

For mom and dad it means picking up and leaving all while Julie is pregnant again.

They’re expecting a son who they just found out will be born with the same disease.

Clark says, ” When I told him that his brother was going to have the same condition he did, he just smiled and said, well I’m OK. I’m fine.”

Julie says, “I think god gives us what we can handle and there is purpose.”

It’s a life filled with question that may finally have an answer, but it will take a few months of isolation to find out.

Joshua says, ” I’m not really afraid of that no.”

If you want to follow along on Josh’s journey his dad has created a web page that Josh himself will be updating as often as he can.

To check it out just head to http://www.JoshuaOsborn.com

Clark says the best thing that’s come out of Josh’s sickness is newborn testing.

In January of 2008 Wisconsin became the first state to begin testing newborns for the disease which Clark says increases the survival rate from 50 -percent to close to 100-percent.

The Osborns were very active in lobbying for that testing and still hope all states will jump on board.

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Severe Combined Immunodeficiency (SCID) should be added to universal newborn screening programs

February 24th, 2010 | Author: jordannajoaquina

Recently, the Advisory Committee for Heritable Disorders in Newborns and Children (ACHDNC) unanimously agreed to recommend the addition of Severe Combined Immunodeficiency (SCID) to the universal newborn screening panel. The  American College of Medical Genetics (ACMG) and the Immune Deficiency Foundation both support this recommendation. SCID is the first condition to be added to the universal screening panel since the ACHDNC adoption of over 20 recommended conditions in 2005.

SCID refers to a group of genetic condtions that cause immune system dysfunction. Children with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. The organisms that cause infection in people with SCID are described as “opportunistic” because they ordinarily do not cause illness in people with normal immune systems.

Infants with SCID typically experience pneumonia, chronic diarrhea, widespread skin rashes and much slower growth than healthy children.  Some affected individuals also have neurological problems such as developmental delay, movement disorders and hearing loss.

X-linked SCID is the most common form of severe combined immunodeficiency. The exact incidence is unknown, but the condition probably affects at least 1 in 50,000 to 100,000 births.  X-linked SCID is caused by mutations in the IL2RG gene and is inherited in an X-linked recessive manner.

Adenosine deaminase (ADA) deficiency is a rarer form of SCID, affecting about 1 in 200,000 to 1,000,000 newborns worldwide. ADA deficiency is responsible for approximately 15% of SCID cases. ADA deficiency is caused by mutations in the ADA gene and is inherited in an autosomal recessive manner.

Other forms of SCID are caused by mutations in other genes and typically inherited in an autosomal recessive manner.

Support services can be found at the Immune Deficiency Foundation website.

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Infant screening would be more comprehensive under new bill

Infant screening would be more comprehensive under new bill

February 16, 2010
Five new diseases would be added to the list of tests to be administered to infants born in New York state under a new bill being considered by the Legislature’s two health committees.

New York state’s Newborn Screening Program began in 1965, and for the past 45 years, newborns are tested for more than 40 disorders. Bill number (S.6656/A.9791) would add to the list of conditions screened for: Pompe Disease, Fabry disease, Niemann-Pick disease, Gaucher disease, and severe combined immunodeficiency disease.

For many of these disorders or conditions, a lack of early detection and treatment can cause mental retardation, abnormal physical development and a host of other problems, according to the bill’s justification.

“New parents in New York state should have the benefit of knowing that their infants are being tested for as many diseases as possible at birth,” said Senate Minority Leader Dean Skelos, R-Rockville Centre, sponsor of the bill. “A simple blood test can determine if a baby has one of these rare disorders, which can cause abnormal physical development, mental retardation or other problems if untreated.”

Assemblyman Harvey Weisenberg, D-Long Beach, is the bill’s sponsor in the Assembly. The bill was referred to the Senate Health Committee on Jan. 22 and the Assembly Health Committee on Jan. 28.

linkback url; http://www.legislativegazette.com/Articles-c-2010-02-16-65502.113122_Infant_screening_would_be_more_comprehensive_under_new_bill.html

Lehi girl continues to beat the odds against Immune Deficiency Disease

Lehi girl continues to beat the odds against Immune Deficiency Disease

Heidi Toth – Daily Herald | Posted: Thursday, February 4, 2010 12:30 am

Second grade is a mecca for germs.

That should make it the last place for a little girl with a disease that has wiped out all of her natural immunity.

Yet, 8-year-old Emily Heaps fits into second grade easily, playing with her classmates at recess, drawing and asking questions. One might never know she was different just from watching.

That’s just fine with her. The hope is that maybe one day, she won’t be different.

Emily has severe combined immunodeficiency syndrome, which is a genetic defect that destroys the body’s natural immune system. It’s nicknamed “bubble boy disease,” after a 12-year-old boy who lived in a plastic bubble to keep him away from all germs. It’s more common in boys than girls, and Emily’s mutation is the least common, and hardest to treat, of all. In August 2008 she had her second bone marrow transplant; the first happened when she was just two months old. In the months after that second surgery, Emily’s doctors have looked at her low white blood cell counts and worried the surgery didn’t work.

Emily’s parents look at their happy, energetic, healthy daughter who is thriving in a public school and able to play sports and play with her friends at recess and have no problem believing the treatment was successful.

“She does have an immune system, finally, and it’s small, but it’s growing,” Jill Heaps said.

A year ago, as Emily sat out first grade because being around other people, especially children, was too dangerous for her fragile body, her family and doctors were waiting to see if the second transplant had been successful. They were following news of gene therapy treatment, an experimental procedure that showed good results in early tests but had sometimes resulted in leukemia and other complications. They also were keeping their fingers crossed that they wouldn’t need this radical treatment but said a year ago that they were open to it.

So far, that hasn’t been necessary. Emily is back in school, and while she has her own pencils and own scissors and her teacher is daily wiping down desks and chairs, she’s basically a normal 8-year-old. Jill has scaled back her deep housecleaning from daily to twice a week, and while the house and the children and even the dog still are hygienic and probably more sterile than many a doctor’s office, the family doesn’t obsess about cleanliness the way they used to. Not all the time, anyway.

“We went to the dentist last week, and every time they’d get a new tool out she’d say, ‘Is that clean?’ ” Jill Heaps said.

Her teacher is losing the obsessive-Lysol-spraying itch as well. Kinna Harris, a second-grade teacher at Sego Lily Elementary, didn’t know how this year would turn out, since Emily was not used to being in a classroom and had to be so careful. Her worries didn’t last long either; Emily knows what she needs to do, they have a special sanitizer on hand and Harris wipes down the desk and chair almost daily.

“I like being in school because we go to recess and do fun stuff,” Emily said.

More than that, however, is the transformation into a more independent, capable second-grader who has acquired problem-solving and critical-thinking skills instead of going straight to her teacher for help.

“Now she will figure it out,” Harris said. “She’s more willing to trust herself.”

Trust has figured heavily into the Heaps family as they dealt with Emily’s illness. Jacqueline, her 14-year-old sister, was 7 years old when Emily had her first bone marrow transplant. Doctors took the donated marrow from her closet match — her sister.

“After I realized it would save her life, I was all right,” she said.

The sisters have a unique connection because of that piece of Jacqueline that’s in Emily, rebuilding her immune system and producing the white blood cells that they hope will keep her alive longer than the average bubble child.

It has been difficult, of course. The Heaps children learned that Emily’s needs almost always came first, which really hurt last year when 11-year-old Thomas came down with H1N1 influenza. Because of Emily’s vulnerability, he was quarantined in his room for 11 days, and anytime Jill or Matt went in to see him, they wore masks and gloves and kept contact to a minimum. Eleven days without a hug from his mother was difficult for them both, Jill admitted. But they also had to keep Emily safe.

For now, they meet monthly with an immunologist to keep tabs on her white blood cell count, grateful that Emily is as healthy as she is, as healthy as she’s ever been, her mother said, but knowing the future still is full of uncertainty. They don’t know how the disease, the chemotherapy before her second transplant or the medications will affect her development. They don’t know her life expectancy. Jill Heaps said the oldest SCIDS patient they are aware of is 33 and doing well, so they’re hopeful. They do not know if she’ll hit puberty or if she could simply grow out of the disease as the transplanted bone marrow continues to produce healthy white blood cells.

But for now, they’re a normal family with a dog and chores and soccer practice and family dinner.

Heidi Toth can be reached at (801) 344-2556 or htoth@heraldextra.com.

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