LISA MAYORGA: Thankful for early warning

LISA MAYORGA: Thankful for early warning

By Lisa Mayorga

Saturday, Sep. 17, 2011 | 12:00 AM Modified Fri, Sep 16, 2011 03:15 PM

My granddaughter, Annalou Bojorquez, was born at Clovis Community Hospital on Oct. 9, 2010, with an often fatal immune deficiency called Severe Combined Immunodeficiency or SCID.

At birth, Annalou weighed 7 pounds, 1 ounce, and appeared to be a healthy baby. Prior to leaving the hospital, she underwent all newborn screening tests that were made available to her.

In early November, my daughter, Elena, received a phone call from Annalou’s pediatrician, Dr. Harish Saigal, informing her that Annalou’s test resulted in an abnormal reading. He requested a second test be performed to rule out any abnormalities.

On Nov. 11, Dr. Saigal informed us that the second test resulted in a diagnosis of an immune deficiency called SCID. Annalou was the very first child in California to be diagnosed with an immune deficiency based on the newborn screening pilot program for SCID initiated in August 2010.

Dr. Saigal said she would require a bone marrow transplant and would be treated at the University of California at San Francisco. Her condition was life-threatening and it was imperative that she be isolated, free from contact of common infections that could be fatal for her.

At UCSF, we met Dr. Jennifer Puck who, along with the bone marrow transplant team, would treat Annalou’s condition. With Elena as the donor, Annalou received her BMT on Dec. 9, and IvIG treatments to help build antibodies in developing her own immune system.

In February, Annalou was discharged from UCSF. However, she was to remain isolated at home and received her treatments every three weeks at UCSF. Eventually, she was released from isolation, but we continued her care very cautiously.

In June, Elena received a call from UCSF informing her that Annalou’s treatment had been successful. Her “B” cells were fully functioning and no longer needed treatment. Annalou was totally “SCID free” at age 6 months.

Overwhelmed with joy, we cried, laughed and celebrated in thanksgiving for an answered prayer.

Sacramento Assembly member and pediatrician Dr. Richard Pan has written Assembly Bill 395 to make the SCID screening pilot program that saved Annalou a permanent part of California’s newborn screening process. We hope Gov. Jerry Brown signs AB 395 into law so that all California babies are protected from SCID.

Our experience with Annalou’s diagnosis has been informative yet gratifying to know that we owe her early diagnosis to the newborn screening. Had we not been informed so early in her life, it could have been fatal. We learned that children with SCID generally do not live past 1 year.

In addition, I am proud of the brave young mother Elena has become, by giving so unselfishly to her daughter. She is a great mom and they will share a close bond that will forever embrace them.

We are so very thankful to everyone who contributed to the wonderful care Annalou received at UCSF including Dr. Puck, Dr. Mortan Cowan, Dr. Christopher Dvorak, Dr. Biijana Horn, our social workers (Xin-Huan Chen, Amanda Kice, Anu Sood) and the awesome nursing staffs of the PCRC and BMT units.

Thanks also to the San Francisco Ronald McDonald and Family House of San Francisco for providing us with housing, moral support and friendship, to the March of Dimes for providing us with knowledge and a voice to tell our story, and most of all to our family and friends who have provided us with the love, support and many prayers that helped us get through the difficult time.

This cooperation has helped protect my family and I am hopeful the governor will sign AB 395 into law so that expanded newborn screening can help give more California newborns a healthier start to life.

linkback url: http://www.fresnobee.com/2011/09/16/2541339/lisa-mayorga-thankful-for-early.html

Help by signing the petition

Governor Scott in Florida line item vetoed SCID Newborn Screening, even though the Newborn Screening Committee for Florida voted unanimously to start screening.  Let’s tell Governor Scott he was wrong.  You do not need to be a Florida resident to sign the petition.

CLICK NOW  to sign!

CS Mother Pushing for SCID Screening in Texas

CS Mother Pushing for SCID Screening in Texas

Having a child is one of life’s greatest gifts. But, imagine having that gift taken away after only nine months.

That’s what happened to one College Station family.

Their seemingly healthy baby boy died in March from a disease rarely diagnosed, but treatable.

Now his mother is on a mission to raise awareness and save babies lives.

“He was just a really sweet, sweet little baby,” mother Jennifer Garcia said.

For the first seven months of life her son Cameron was perfectly healthy, but then he got a cold that didn’t go away.

“They noticed he sounded a little wheezy and of course immediately you think the head cold has just settled in his chest,” Garcia said.

Doctors diagnosed him with pneumonia and when it didn’t get better he was taken to Houston. After three weeks of tests doctors determined he had Severe Combined Immunodeficiency or SCID also known as the Bubble Boy Disease.

Cameron couldn’t develop a normal immune system and two weeks later he was gone.

“We had to literally make the decision what do we do from here,” Garcia said. “We had to hold him and take him off the ventilator and it was a very hard decision that no parent should ever have to make.”

SCID can occur in about one in 40,000 newborns. Although rare, if identified early, babies like Cameron can be treated with a bone marrow transplant.

“These kids can get cured, they can live a normal life,” Dr. Susan Pacheco with the University of Texas-Houston Medical School said.

Pacheco is the Houston immunologist who diagnosed Cameron.

“This is a fatal disease if it goes untreated and the outcome for after a transplant is much higher the early that you diagnose and the sooner that you treat,” Pacheco said.

A simple blood test at birth, costing between $5 and $7 dollars, determines if a newborn has SCID.

But the problem is, the test is not part of the Texas newborn screening panel. Cameron wasn’t tested at birth.

Jennifer is fighting to change that.

“I feel like I left the hospital running out the door saying how could this happen and I don’t want this to happen to another baby in Texas,” Garcia said.

Jennifer is one of many working on getting SCID added to the list of screening tests all Texas newborns are recommended to get. Five states currently test for the disease.

Florida’s governor like others in the past recently vetoed a bill, citing economic reasons.

“When you want to talk about money. Cameron’s medical bills came to almost one million dollars. How many babies could you have screened for a million dollars,” Garcia said.

Jennifer says she won’t give up until all babies are given a chance at survival. A chance Cameron did not get.

An opt-in pilot program is being conducted in Texas and the College Station Medical Center is on board. Starting in the fall or winter, the College Station hospital will start testing babies for SCID.

The Texas Department of State Health Services is conducting the pilot program. Results will help determine the best way to test for SCID when funding is available to add it to the Texas newborn screening panel.

Jennifer is also working with local lawmakers, hoping one will carry legislation into the next legislative session.

Click here to learn more about Texas pilot program

Click here to learn more about Texas pilot program

Click here for more information on SCID

Click here for more information on SCID

If you have any questions for Jennifer Garcia, you can reach her at cameroncrusade@yahoo.com.

linkback url: http://www.kbtx.com/home/headlines/CS_Mother_Pushing_for_SCID_Screening_in_Texas__126366573.html

Family pushing for SCID screening

 

ORLANDO, Fla. (WOFL FOX 35) – A family continues to grieve over the loss of a newborn child who fell victim to a rare, but treatable, disease.  They are also taking on a cause which they hope will help save the lives of others.

Kyle Harden, who is still devastated by the deathof his daughter Annabelle, says he has yet to wash her clothes because the smell brings comfort and motivation. Little Annabelle died of Severe Combined Immunodeficiency Disease (SCID), also known as the “bubble boy” disease.

It’s a disease that could have been treated with a bone marrow transplant had their baby simply been screened.

“Her little body wasn’t able to fight anything off,” says Annabelle’s mother, Audrey. “Any disease or germ she came into contact with could do its thing.”

Born seemingly healthy in September of last year, Annabelle began to experience lots of vomiting and reflux beginning four months later. In February of this year, doctors diagnosed with her SCID. She then died six days later of pneumonia and heart failure. Her immune system was useless.

“I was like, ‘Why my baby? Why? Why us? I don’t understand,'” Audrey says.

Now this family is on a mission, along with other families who have lost children. SCID is one of the most treatable of all conditions when screened detected; however, Governor Rick Scott has vetoed the SCID testing newborn screening program, despite the recommendation from the state’s Newborn Screening Advisory Committee that SCID be added to the newborn screening panel.

“I don’t have a daughter, simply because she wasn’t screened for SCID,” says Kyle. “It might be easy to say one in 35,000 isn’t a lot. Until it happens to you, you don’t realize how helpless you really are.”

The Hardens are encouraging others to write the governor to protest his decision. They also have a goal to have Newborn Screening for SCID passed in ALL 50 states. For more information, click on www.SCIDangelsforlife.com .

 

linkback url: http://www.myfoxorlando.com/dpp/health/060311-family-pushing-for-scid-screening

Newborn Screening for Deadly Immune Disorder SCID Possible Due to UCSF Research

Newborn Screening for Deadly Immune Disorder SCID Possible Due to UCSF Research

By Jeffrey Norris on March 21, 2011

Since last August, all newborns in California have been screened for a deadly immune disorder as part of a pilot program, but a newly introduced state assembly bill would make this screening routine.

About a dozen infants are born in California each year with the disease, called severe combined immunodeficiency (SCID). Screening enables the diagnosis and treatment of stricken infants before infections kill them.

At a Feb. 14 press conference that included UCSF pediatrician Jennifer Puck, MD – as well as one of her young SCID patients and the patient’s mother – California Assemblyman Richard Pan, MD, (D-Sacramento) announced the introduction of the bill, AB 395.

In May 2010, US Secretary of Health and Human Services Kathleen Sebelius endorsed the recommendation of a federal advisory committee and called for the inclusion of SCID testing in newborn screening panels. California, with 10 percent of the country’s newborns, began its pilot program began within three months of that endorsement. Prior to 2010, Wisconsin and Massachusetts began screening newborns for SCID on a trial basis.

Puck, from the Department of Pediatrics and the Clinical and Translational Science Institute at UCSF, had nominated SCID for inclusion in the newborn screening disease panel. She submitted evidence to the federal advisory committee from her research on the cost effectiveness of screening, and from the screening method she pioneered in 2005. Puck’s method, now adapted to large-scale screening by state laboratories, uses the same sample – dried blood spotted onto filter paper – already used for other newborn screening tests.

The California Department of Public Health has already demonstrated its effectiveness.

“I think we are picking up babies who would have been missed, and I know we are picking them up earlier,” Puck says. “The incidence of SCID in California based on the statewide pilot study is about one in 35,000 births, which is more common than our estimates before we started screening.” The pilot program has been funded by a combination of grants, philanthropy and development funds. The legislation proposed by Pan would establish a policy of routine screening.
Crippled Immune Systems

Babies born with SCID lack the immune cells known as lymphocytes. Lymphocytes are the advanced fighting forces of the immune system. Each lymphocyte targets a specific disease pathogen. There are lymphocytes for essentially any infection one might encounter. Infants with SCID often die from infections, including some that rarely afflict babies with healthy immune systems.

All cases of SCID are due to mutations in immune system genes. Most cases arise sporadically. Babies born with SCID appear normal, and initially are protected by antibodies transferred from their mothers. The antibodies help fight infections in all infants during the first months of life as a baby’s immune system matures.

Healthy babies come down with infections as their immunity is being built up, Puck says, but babies born with SCID cannot handle their infections adequately. Eventually parents and doctors may notice that infections are more frequent and persist longer than usual. However, SCID is rare, so accurate diagnosis and treatment may be delayed until it is too late.

“There’s a good reason to screen for SCID,” Puck says. “It’s treatable if you find it early, and treatment is much more successful if you do it early rather than late.” Infections can be fatal before or after diagnosis. Without screening, four out of five cases of SCID are identified only after an infant begins to suffer from severe infections, Puck says. “By the time babies are diagnosed they often are in very serious trouble,” she says.
Cleverly Designed, Simple Lab Test

Puck has a long history of SCID discoveries. In the 1990s her group was one of two that identified the gene that causes the most common form of the disease, called X-linked SCID, which affects only boys. Although there are many different genetic causes of SCID, the cost-effective test developed by Puck is not limited to detecting only one or a few of them. Instead it detects evidence pointing to a lack of lymphocytes.

Lymphocytes make receptors keyed to unique molecules made by foreign disease agents. The receptors appear on the outside surfaces of T lymphocytes. They also are secreted by B lymphocytes as antibodies. To generate a sufficient repertoire of receptors, lymphocytes have to recombine bits of DNA to generate unique gene combinations that encode receptors for each unique pathogen the body might encounter.

To accomplish this task the developing lymphocyte splices together components from distinct receptor-gene regions. Each region contains many choices from which to select, but only one module is used from each. The number of unique receptors – and uniquely targeted lymphocytes – that can be generated by these recombinations is immense.

The leftover pieces of DNA that are cut out of the chromosome, but that are not used in the lymphoctye’s finished receptor gene, are joined together to form a circle. This circular DNA is stable, because the enzymes that chew up DNA work from free ends of linear DNA strands. “We know these circles are hanging around and can be counted,” Puck says. “I thought we could figure out a way to count them in dried blood spots.”

Puck used a standard laboratory technique called the polymerase chain reaction (PCR) to amplify and detect the circular DNA that had been isolated from the filter spots already obtained for screening for other newborn disorders. To drive amplification and detection she used primers with DNA sequences matching the DNA that spans the joint where the ends of unused linear strands of DNA have come together to form a circle. With this PCR test the circles are easily detected in dried blood spots from babies with normal lymphocytes.

When the screening test fails to detect the circles, follow up begins with more thorough blood tests and referral to an immunologist with SCID expertise. Tests are available that can identify specific genetic causes of the disease. “Different genetic causes of SCID call for different treatment approaches,” Puck says. Babies with SCID often receive a bone marrow transplant to reconstitute a healthy immune system. UCSF is among the transplant centers with expertise in performing transplants for immune deficiencies, Puck notes.

SCID still is sometimes referred to as Bubble Boy disease, in reference to David Vetter, who was placed in a germ-free enclosure at birth after his parents had lost their first son to SCID. His ordeal was covered by the news media, and his life became the subject of a made-for-TV movie. He died of an infection at age 12 in 1984. Vetter had recently received a bone marrow transplant, which had not yet restored his immune function.

linkback url: http://www.ucsf.edu/news/2011/03/9558/newborn-screening-deadly-immune-disorder-scid-possible-due-ucsf-research

Simple newborn test developed to detect ‘bubble boy disease’

Simple newborn test developed to
detect ‘bubble boy disease’

By ERIN ALLDAY, San Francisco Chronicle

Last update: March 18, 2011 – 9:34 PM

SAN FRANCISCO – University of California at
San Francisco doctors have developed a test
that, using just a drop of blood taken within
hours of a baby’s birth, can determine
whether the child has a rare but potentially
fatal immune deficiency disorder known as
“bubble boy disease.”

Without treatment for severe combined
immunodeficiency disorder (SCID), most
babies die from infection when they’re
months old. If they survive, they’re often
destined to a life in isolation. The disease was
made famous by a Texas boy who lived most
of his 12 years in large, plastic bubbles to
protect him from infection. He died in 1984.

If the disease is diagnosed within weeks of
birth, doctors can perform a bone marrow
transplant that will let the baby grow a new
immune system to replace the faulty one, and
essentially cure the disease. That’s why
doctors are trying to get the test added to the
state’s newborn screening program, a move
that will require legislative approval. A vote is

expected this summer.

“Some other states are getting on board, and
they may be doing it kicking and screaming,
because they don’t have an extra dime to
spend. But it’s so important from a medical
point of view, and we believe it’ll be cost-
effective,” said Dr. Jennifer Puck, a pediatric i
mmunologist with UCSF Benioff Children’s
Hospital who developed the screening test.
“These babies, when they come in with
infections, they have a $1 million hospital bill
before they even get the transplant,” she said.
“With screening, we’ll get useful, healthy
citizens.”

In many states, including Minnesota, blood is
drawn from newborns hours after birth to
screen for more than two dozen types of
diseases, including sickle cell anemia and
phenylketonuria, or PKU, a metabolic
disorder that can cause mental disabilities.

Diseases are screened only if they can be
treated, and only if it’s important that
treatment be started as early as possible to
avoid permanent damage or death. In the
case of SCID, it’s crucial that babies get a
diagnosis before they’re exposed to even the
tamest virus — the common cold can be
deadly to them. In fact, an infant vaccine for
the rotovirus includes a weak but live virus

link back url: http://www.startribune.com/nation/118277034.html

SCID Mom tells her story

Follow this link to the view the video on YouTube of a SCID mom who tells her story and explains the difference newborn screening for SCID can make.

 

Rare Disorder Demands Quick Intervention!!!!

Rare Disorder Demands Quick Intervention!!!!

Siblings’ disparate outcomes are emblematic of how important an early diagnosis can be

By KELLY BOTHUM • The News Journal • October 12, 2010

Both of Donna Sawyer’s children were born with the same life-threatening immune disorder that left their tiny bodies susceptible to infections from even minor viruses, bacteria and fungi.

Today, her 12-year-old son, Austin, is a Boy Scout, baseball player and straight-A student at Conrad School of the Sciences. Her daughter, Alex, who is 15, has cognitive deficits and is in special education classes at Christiana High School. She has gone through years of speech, physical and occupational therapies, yet still struggles with physical limitations on her left side caused by a stroke she suffered at 9 months old.

The difference between her children’s outcomes, Sawyer said, is early detection. Austin and Alex have severe combined immunodeficiency, or SCID, a rare condition in which patients are essentially born without a functioning immune system. As a result, they can’t fight off the germs the same way as someone with a functioning immune system. Without treatment, children born with SCID rarely live past their 2nd birthday.

Alex was 9 months old before she was diagnosed with SCID, believed to occur once in every 100,000 births. In that time, she battled repeated ear infections, diarrhea and vomiting, and never seemed to get better. After her diagnosis, she underwent a bone marrow transplant and slowly began to recover, but not before her body went into organ failure. She spent two months on life support and suffered a massive stroke that left her with permanent damage to her brain and the left side of her body.

Because of Alex’s diagnosis, Austin was screened at birth for the genetic disorder. Like his sister, he underwent a bone marrow transplant at Duke University, but suffered none of the complications she did.

“Today, his quality of life is much better than Alex,” said Sawyer, who lives in Newark. “Life is going to be a struggle for her.”

Sawyer hopes to save other children from what Alex experienced by getting SCID added to the panel of diseases newborns are screened for in Delaware.

Bubble boy disease

SCID was once known as “bubble boy disease.” Patient David Vetter gained worldwide attention in the 1980s after a movie was made about his experiences living more than a decade in a sterile bubble to reduce his vulnerability to infection. Vetter died in 1984 after an unsuccessful bone marrow transplant.

Dr. Stephen McGeady, interim chief of the division of allergy and immunology at Alfred I. duPont Hospital for Children, calls SCID a “pediatric emergency” because of the severity of illness in babies born with the rare group of inherited disorders.

In a normal developing immune system, specialized cells mount a response to what the body perceives as foreign invaders. Antibodies attack these invading viruses, bacteria and fungi, generating an immune response. But in patients with SCID, there are defects in these immune responses, so children can’t fight off even minor infections. Children with SCID are at a higher risk of chronic ear infections, thrush and other yeast infections, as well as bronchitis and pneumonia.

Because they lack natural immune defenses — imagine a fighter going into battle without protective armor — these kids seem to stay sick, as they are bombarded with viruses and bacteria that their bodies cannot defend against, said McGeady, who has seen just two cases of SCID in more than a decade at the hospital. In both cases, the patients eventually died.

SCID is one of about 150 kinds of primary immune disorders that are believed to affect 250,000 people in the United States, said Christine Belser, senior director of programs and education at the Immune Deficiency Foundation in Towson, Md.

“One of the biggest problems is that people get a very late diagnosis because only the symptoms are treated. The root cause is not,” Belser said. “You can’t take away the harm that has been done. The important thing is having this diagnosis as early as possible so the right kind of treatment is done.”

Marrow transplants

From the time Alex was about 2 months old, she was always sick. Initially, the first-time parents chalked up the problem to their daughter being in day care. They kept taking her to the pediatrician, but she never seemed to improve despite medications and antibiotics. By the time she was diagnosed at 9 months old, Alex was critically ill. She wound up at Duke University Medical Center, where she had a bone marrow transplant. Her mother was her donor.

“They told us she would not make it through the night. It was just gut-wrenching,” said Sawyer, who said the bill for Alex’s care was more than $1 million. “Little by little, she made it through and started to improve.”

Since their transplants, Alex and Austin, who also had a transplant with marrow donated by Sawyer, show no immunological problems associated with SCID. They return annually to Duke for immune studies.

Sawyer hopes to prevent other children from experiencing what Alex did. Adding SCID to the list of diseases newborns are screened for in Delaware would make that possible, she said, even if it means only one or two children would be diagnosed.

Nationwide, state newborn screening programs test about 4 million babies each year for genetic and metabolic disorders. These are conditions that wouldn’t otherwise be apparent in a newborn. About 12,000 babies are screened annually in Delaware.

In January, a federal advisory committee recommended the addition of SCID to the uniform newborn screening panel. Six months later, the American Academy of Pediatrics made a similar recommendation.

In order to add SCID to the newborn screening panel in Delaware, the state would have to pass legislation mandating the test, said Leah Jones, chief of the maternal and child health bureau with the Delaware Division of Public Health. Delaware currently tests for more than 30 disorders, using a sample of blood taken from a heel stick on the baby.

DPH supports adding SCID testing to the panel, and is investigating the cost of adding equipment and staffing for the additional laboratory testing, Jones said.

Sawyer knows the impact of early diagnosis, both in terms of intervention and medical cost. She hopes to convince state health officials as well.

“It’s something that makes such a difference,” Sawyer said. “I see my kids and I know that.”

linkback url: http://www.pbn.com/Rare-Disorder-Demands-Quick-Intervention,53640