Archive for the 'Newborn Screening and Genetics' category

With Sincere Gratitude: Brody’s Parents Say Thanks for Newborn Screening Test

May 07 2012 :: Published in Newborn Screening and Genetics

Below is an actual letter sent by parents of a baby boy born with a genetic disorder that was caught by a routine newborn screening test.  It was published here with permission from the family and the State Hygienic Laboratory at the University of Iowa.  We love a happy ending.  

____________________________

Baby Brody

Iowa Newborn Screening Program
Pediatrics/Medical Genetics
University of Iowa Children’s Hospital
200 Hawkins Drive
Iowa City, IA 52242

Dear Doctor,

We were overjoyed at the birth of our first child, Brody, on October 12, 2011.  As a school psychologist who works with children with educational challenges on a daily basis, I did everything possible to give my child a healthy start.   With a full-term pregnancy and a successful natural delivery, we took our newborn home from the hospital believing he was completely normal.  However, we were shocked when Brody was diagnosed with profound Biotinidase Deficiency at one week of age.

If it had not been for Iowa’s newborn screening test, we would have been completely unaware of Brody’s genetic deficiency.  Never did we imagine as healthy adults, we were both carriers of this recessive gene. The gene has been unknowingly passed down for generations on both sides, as Brody is the first child in both of our families to have the genetic deficiency.

Because Biotinidase Deficiency is 100% treatable with early detection and continuous treatment, we expect Brody to live a completely normal and healthy life. Without the newborn screening which was performed within his first few days of life, Brody would have likely began exhibiting serious symptoms including developmental delays, loss of hearing, loss of vision, coma, and even possibly death. We are humbled and grateful to live in the state of Iowa which offers newborn screening which saved Brody from experiencing significant delays and problems.  He now has a chance to live a quality life full of joy, health, and opportunity. Without Iowa’s newborn screening, Brody’s future would be in jeopardy and our family could be in crisis.

Thank you so much for believing in the importance of providing this screening to Brody and all newborns of Iowa.  Families, like ours, are testimonies of how this screening has positively affected our lives.  We are thankful and most appreciative of Iowa’s newborn screening program.

With sincere gratitude,

Nicholas and Kelsey, parents of Brody

Kelsey, Brody and Nicholas

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Families’ Stories Explain the Need for Newborn Screening

Nov 17 2011 :: Published in Newborn Screening and Genetics

By Elizabeth Jones, Newborn Screening and Genetics Specialist, APHL and Natasha Bonhomme, VP of Strategic Development, Genetic Alliance

Throughout time people have connected through story-telling. This year’s 2011 Newborn Screening Symposium in San Diego was no different.   APHL President, Victor Waddell, demonstrated the impact a story can make by sharing. His telling of the legend of the Giant’s Causeway caught the audience’s attention and made them think about how story-telling could highlight the benefits of newborn screening.  Keynote speaker Dr. Jennifer Puck echoed this idea when she discussed personal success stories from Severe Combined Immunodeficiency Syndrome (SCID) screening and treatment. This theme was brought up many times throughout the Symposium.

APHL-CDC Newborn Screening and Genetic Testing Symposium parent/patient panel

APHL-CDC Newborn Screening and Genetic Testing Symposium parent/patient panel.

Even with the myriad of scientific sessions, it was our parent/patient panel that served as the most powerful example of how stories act as an educational tool and can drive change.  We heard about the story of Zachary Wyvill who was affected by Glutaric Acidemia Type I and was left out of the California pilot program for this disorder. Today he has no motor skills and has been in and out of the hospital since birth.  Ironically, another Zachary, Zachary Black, was born in California a month later with the exact same condition. Fortunately for this Zachary, he was included in the newborn screening pilot, was identified with the disorder, and now leads a normal life. The stark contrast between the two Zacharys highlighted the implications for not screening for Glutaric Acidemia Type I.  The impact of the story of two Zacharys has directly led to changes in how pilot programs are conducted for newborn screening conditions across the country.

Additionally, we heard a story from Katie Janzen who was born with SCID and could not go to public places as a newborn.  She was treated for the disorder with a bone marrow transplant when she was five weeks old and now lives a healthy life as a young adult.

The variety of perspectives we received from several parents was invaluable. Their stories showed not only that newborn screening works, but also the struggles families go through when screening is not available.

Due to the current economic climate and recent legal issues affecting public health laboratories, it is more critical than ever for the newborn screening system to highlight the many success stories so that the general public and parents have a way to relate to and understand.  Storytelling will improve the image of newborn screening and allow public health laboratories to get the funding and recognition that they deserve.

See other newborn screening stories on our blog:

You can see more family stories on Baby’s First Test

Also posted on Baby’s First Test

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How Newborn Screening Saved Two Little Girls

Nov 08 2011 :: Published in Newborn Screening and Genetics

By Beate Weiss-Krull

“What is that test this pamphlet is referring to?” I asked my husband after our oldest daughter Alena was born in 2003. I was referring to a brochure about newborn screening I picked up on the way from the nursery back to my hospital room.  Metabolic disorders?  I had never heard about the test nor given any thought to metabolic disorders before. We had not heard about newborn screening – at least not that we recall.  Little did we know at that moment that reading that specific brochure would save our daughter’s life.  Why?  Let me tell you.

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We walked out of the hospital the next day.  Bags were packed and Alena was strapped into her car seat.  We were ready to leave and that’s when I remembered the brochure.  I asked the nurse whether the test had been performed on Alena.  She looked at the chart and realized that the newborn screen had for some reason been forgotten. The nurse whisked Alena away, had her heal pricked and off we went.  At home we settled into life with our new baby.  I had never been around babies before so to me it was not unusual that she was drinking very little, and spitting up so much.  Then the night from day 5 to day 6 Alena was not keeping any food down.  She was dry-heaving.  We worried.  Something was not right with our baby.  We saw our pediatrician who did not find anything wrong as babies lose weight after they are born.  The pediatrician did however have a gut feeling that something was not right.  She suggested that we take Alena straight to the hospital for monitoring.  After a few hours in the hospital the physician on duty on the pediatric floor came into the room and told me, “We now know what is wrong with your baby! She has Galactosemia and has to be only fed soy formula.” I had never heard about that!  When I asked for more information, the physician told me that Alena’s newborn screening test had come back positive for Galactosemia.

Minutes later other physicians came into our room and took Alena for a spinal tap to determine whether E. coli had grown.  We were flabbergasted.  Without waiting for the results, the infectious disease physician immediately put Alena on several antibiotics. By morning the bacteria had grown and later that morning Alena seized and was transferred to the Pediatric Intensive Care Unit.

Alena was exactly one week old and her diagnosis of Galactosemia was caught just in time.  I shudder at the thought what could have happened had I not read the brochure, had the lab not been working that Thanksgiving weekend, had the physician from the Oregon Metabolic Clinic not tried everything to reach us, had our pediatrician not had the guts to tell us about her feeling that something was wrong… Alena is now almost eight years old; a happy and healthy girl.

Here is the plain truth: Alena is only healthy and well today because of the newborn screening test.  She is healthy today because newborn screening in the State of Oregon included Galactosemia, a disorder that at the time was not tested for in the State of Washington.

When we were expecting our second child, we already knew the drill.  Metabolic disorders are genetic disorders and therefore there was a 25% chance for each baby to get the disorder.  We prepared in detail for the delivery of our second baby.  The hospital was stocked with soy formula, my OB arranged for cord blood to be tested for Galactosemia, and in addition to the state newborn screening test we also purchased a supplemental private screen.  We were convinced that we surely would fall within the 75% so we made sure that our second daughter, Mia Rose, never got any breast milk or anything but soy formula.  A week later the results came back.  Positive – without a doubt.  Mia Rose also had Galactosemia; and because she was never exposed to any galactose she never got sick.  Mia Rose is, just like her sister, a very happy and healthy girl.

I realize that without newborn screening our story could be much different and very sad.  What if the screen was non-existent? Or the screening was opt-in versus opt-out? Or I had not read the brochure?

Do you want to know what life with a Classic Galactosemia is like?  Feel free to follow our life on my blog, and do not forget to spread the word about newborn screening!   Thank you for reading our story!

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A Story of Life, Loss, and Advocacy

Nov 07 2011 :: Published in Newborn Screening and Genetics

By Jennifer Garcia

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My name is Jennifer Garcia, and my husband John and I would like you to meet our two sons, Gavin who is 5, and Cameron who is forever 9 months old. You see, Cameron passed away from complications of an identifiable and treatable disorder known as Severe Combined Immunodeficiency or SCID on March 30, 2011; the day he turned 9 months old.

Cameron was born on June 30, 2010 in Texas. He underwent state newborn screening, and was discharged from the hospital as a “normal newborn.” Little did we know that our state does not screen their newborns for SCID.

Brothers

Cameron’s older brother Gavin has been healthy all of his life. We expected nothing less from Cameron. We considered ourselves blessed to have two beautiful, healthy boys.

Months passed and Cameron thrived, met milestones, and was usually in the 90% in both height and weight. At times he even exceeded his brother at the same ages. Cameron’s only ailment was recurrent ear infections, not unlike many babies including his brother. Like Gavin, Cameron got tubes in his ears at 7 months, but he continued to have cold symptoms. Cameron would be hospitalized for pneumonia shortly after he received his tubes.

Hospitals

After a week at our local hospital being treated for pneumonia and with only minimal improvements, we were transferred to Houston, Texas which is considered to be a major medical center. Even though our pediatrician had transferred us, we were all still optimistic and thought it just a tough case of pneumonia we were dealing with. We were so confident that things would be fine, John stayed behind with Gavin while I followed Cameron. No one could have ever imagined what was in store for us once we arrived in Houston. Within 4 hours of arriving at the hospital in Houston, Cameron was intubated and put into a coma to protect his little mind from what was thought to be seizures. These seizures appeared to have begun in the ambulance during the one and a half hour ride from College Station to Houston. I felt helpless as doctors tried to figure out what was going on with Cameron, and we transferred from room to room as well as continued to be bumped up in level of care. It was after 1 AM before Cameron was admitted into the PICU and intubated. I sat alone in the waiting room in the middle of the night for hours waiting to see him and wondering: what just happened? What was going on with my baby boy? And wanting to hold him knowing that he must be terrified. Truth is, we would not get to hold Cameron in our arms again for over 4 weeks, until the last moments of his life, and he passed away.

As a family we waited anxiously by his bedside as Cameron remained in a coma and endured many tests to try and figure out what was happening to his little body: CAT scans, MRIs, EEGs, spinal taps, blood transfusions and massive doses of anti-seizures, anti-bacterials, anti-virals, and anti-fungals, just to list a few. Eight teams worked on him daily: Critical Care, Pediatrics, Neurology, Epileptology, Toxicology, Immunology and Infectious Disease plus Respiratory Therapists.

Ten days after arriving at a major medical center Cameron was diagnosed with X-link SCID.  It was March 13, 2011 and Cameron was 8 months old.

SCID

The diagnosis of SCID brought great confusion to John and me. What was SCID? Why had we never heard of this before? After all, I had done all the prenatal testing as well as the newborn screening. Wasn’t that all I needed to do? I knew there were no other cases of SCID in either of our families’ medical history. What I didn’t know was most cases of SCID have no previous family history.

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Immediately we began to research SCID for ourselves in addition to the information that our doctors were sharing with us. What was it? And what were our options? This is when we found out that if SCID is identified in the first months of life, such as through newborn screening, and before severe infections occur, most infants are successfully treated by a bone marrow transplant. If SCID is not diagnosed before infections, survival rates drop dramatically. Unfortunately for Cameron, he was not diagnosed as a newborn and each day that passed his chances at survival were diminishing. Although chances were slim, we had his superhero brother, Gavin, tested to see if he could possibly be a bone marrow match for Cameron. Luckily, Gavin was blessed to have been born free of this deadly condition. Four grueling weeks of treatment went by as we waited and hoped Cameron would recover enough for a bone marrow transplant. As much as we did not want to accept it, Cameron was unable to fight off the deadly pneumonia that had taken hold of his little body and crippled his little mind. After all the weeks of intense treatment and prayers we were informed that we needed to say goodbye to our baby boy and let him go. On March 30, 2011, the day he turned 9 months old, we finally got to hold Cameron in our arms as he slipped away from us.

After his death we requested Cameron’s newborn bloodspot, which luckily we opted to have stored, be screened for SCID in a small pilot program that had begun in October 2010. We were informed that Cameron did test positive for SCID at birth after his newborn blood spots were screened. We found out 9 months too late for our Cameron.

With SCID newborn screening, Cameron’s life and our lives would have been much different. The night we left the hospital without Cameron I dedicated myself to doing what is in my power to educate and advocate for newborn screening. Since that time I have become a volunteer educator for the SCID pilot study in Texas as well as an advocate and supporter of the Save Babies Through Screening Foundation. Education about newborn screening is something that I will continue to passionately help others with in Cameron’s memory.

Does your state’s newborn screening panel include SCID? Find out here. 

 

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September is National Newborn Screening Month

Sep 22 2011 :: Published in Newborn Screening and Genetics

By: Elizabeth Jones, MPH, Newborn Screening and Genetics Specialist
  

Every year, more than 6,000 newborns are identified with a genetic or metabolic disorder through newborn screening in the US. Newborn screening is an important life saving public health program that has been in existence for nearly fifty years. The program has been successful in picking up children with rare, potentially life-threatening or harmful conditions, who might otherwise appear healthy.

After reading a recent Nature article, “A Spot of Trouble,” I became concerned that it highlighted newborn screening in a less than positive light. Although some of its successes are discussed, this reputable journal emphasizes the viewpoint of a privacy advocate who opposes mandated screening and touts that the “government has your DNA.” In my view, this advocate is concerned with privacy and parental rights at the expense of children’s health and quality of life. In the article, she states, “Yes, the government has to follow the law, but nobody’s in there watching. So the best way to make sure that it never happens is to simply not get screened.” Central to her campaign is an opt-in policy for newborn screening.

Currently, state newborn screening programs have an opt-out policy, meaning that all newborns will be screened unless a parent refuses due to religious or other reasons. Newborn screening programs are generally opposed to opt-in policies for several reasons. First and foremost, opt-in policies lead to lower participation in newborn screening. Parents will forego screening due to a lack of knowledge or trust, leading to a loss of babies’ lives. Moreover, opt-in policies result in additional costs, resources, and staff, which, quite frankly, states cannot afford in today’s economic climate.

Decades of progress in the field of newborn screening should not be compromised by conspiracy theories and a lack of knowledge. So what is newborn screening NOT? Newborn screening is NOT an attempt to build a eugenics movement as the privacy advocate in the article suggests. Robert Guthrie, who devised the PKU bacterial inhibition assay, would be rolling in his grave if he realized that the public health issue on which he had worked so diligently to reduce mental retardation was now being equated with a government take-over of our genetic information.

With September as National Newborn Screening Awareness Month, we should embrace the public health impact of newborn screening, and particularly the work that is performed every day by our state public health laboratories. Although the conditions screened vary by state, 30 are now recommended by the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. Thanks to expanded screening, an estimated 10,000 newborns will now be identified with a genetic or metabolic condition each year in the US.

Laboratorians, follow-up personnel and other health care professionals in newborn screening work tirelessly to ensure that all babies receive an adequate newborn screen and appropriate follow up and treatment if necessary. Let’s not take them for granted. Instead, let’s redouble our efforts to explain the benefits of newborn screening to parents and other members of the public. Creating unnecessary fear helps no one.

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A Parent’s Story: My SCID Angel for Life

May 24 2011 :: Published in Newborn Screening and Genetics

By Heather Smith, Co-founder, SCID, Angels for Life Foundation

My name is Heather Smith, and I am the mother of two children born with X-linked SCID, although one has passed away.  Our first son, Brandon, began his battle with SCID in November of 1993 when he came down with his first cold.  He was 6 months old at the time, and appeared up to this point to be a “normal” baby, until we quickly learned that he did not respond to a cold like a “normal” baby would.

Brandon

Brandon

A few days after he developed his cold, he was admitted to the hospital when he showed signs of failure to thrive.  He had a difficult time eating, a rash on his face, thrush in his mouth, and his fingernails had turned blue. Immediately the doctors began testing him for everything they could think of including Cystic Fibrosis and AIDS.  Although all of the tests came back negative, Brandon did not respond to treatment and was quickly transferred from hospital to hospital, while the doctors battled for answers and some kind of a diagnosis.

Finally, after being in the hospital for 3 weeks the doctors came up with a “preliminary” diagnosis, Severe Combined Immune Deficiency (SCID). I had seen the movie, The Boy in the Plastic Bubble, with John Travolta, but I never dreamed I would someday lose my first born child to this devastating disease.  At this point, Brandon was on ECMO (a heart lung bypass machine) and suffered from Graft vs. Host Disease which he developed from the 13 blood transfusions he received during his hospitalization.  The idea of a bone marrow transplant wasn’t even an option presented to us for consideration.  Instead, we were told that we had to say goodbye to our only child and to turn off all of the machines that were keeping him alive. Three and a half weeks after initially becoming ill, our precious Brandon passed away and became our SCID Angel for Life.

It took over 6 months for geneticists to confirm that Brandon had died of SCID and that I was a carrier of this deadly disease.  Because of this, when we became pregnant the next time, we immediately had a CVS test done to see if this child would also be affected.  After all, “Knowledge is Power” and we felt that as long as we knew what we were dealing with, we could come up with an acceptable treatment plan for this baby.  The next day we found out we were carrying a boy and suddenly the odds went from one in four to 50/50.  Three weeks later we got the call from Dr. Jennifer Puck that this baby also suffered from SCID.

Taylor

Taylor

Immediately we started to make a plan.  We had already done quite a bit of research on SCID after we lost Brandon, and we knew that a bone marrow transplant shortly after birth was our only option to treat our new baby boy.  However, what we didn’t know was that the bone marrow transplant could actually be done in-utero, while I was still pregnant. And if that wasn’t amazing enough, we were pleased with the news that the transplant could actually be done in Detroit, just two hours away from our home at the time.  The only catch to this story was that the procedure had never actually been done successfully on a fetus before.  Our physician, Dr. Alan Flake, had been doing research in the lab on sheep and was waiting for the “perfect patient.”  The perfect patient would be the baby I was carrying. At 16, 17.5 & 18.5 weeks gestation three separate stem cell transplants were performed with his father being the donor.  If the procedure didn’t work, our plan B was to do a traditional bone marrow transplant within the first three months of life at Duke University Hospital.

At 36 weeks Taylor was born via C-section weighing 4 pounds 3 ounces and 17 3/4 inches long.  The cord blood was immediately tested and the preliminary results were extremely positive; his transplant looked successful but time would tell for sure.

Taylor has suffered numerous bouts of cold, flu and even pneumonia without needing to be hospitalized.  His only medication is a product called IVIG (gamma globulin) that he receives every three weeks.  Like Taylor, most children with X-linked SCID have a hard time developing B cells, the cells necessary to fight off certain infections, so by receiving IVIG infusions his body is essentially being given the necessary B cells it is lacking, and he is able to live an essentially “normal” life.  Today, Taylor is a thriving, healthy teenager with a life full of possibilities ahead of him!

Unfortunately, a tragedy had to happen in our family, and in so many other families with SCID, in order for us to know about this devastating disease.  If Brandon could have been diagnosed at birth, before the onset of a life threatening illness, his pain and suffering could have been stopped, his life could have been saved.  It has been 17 years since we lost Brandon but I still remember it like it was yesterday.

*****************

On May 21, 2010, Secretary of Health and Human Services Kathleen Sebelius adopted the national Recommended Uniform Screening Panel as recommended by the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC).  The recommended panel now includes SCID, the first disorder to be added since 2005.  However, it is up to each state, territory, and the District of Columbia to choose to add SCID to their required newborn screening panel.  Currently only New York and Wisconsin require the test; Massachusetts and California both universally offer SCID testing, but it is not required.  Louisiana also offers the test, but testing is outsourced to the Wisconsin laboratory.  Similarly in Puerto Rico, the test is offered but bloodspot cards are sent to Massachusetts’ laboratory for testing.  Several other states have taken steps toward adding the test, but have not yet officially done so.  Heather and other parent advocates work around the country to ask states to add SCID to their routine newborn screening panel.

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Newborn Screening Benefits Greatly Outweigh the Risk of a False-Positive

May 10 2011 :: Published in Newborn Screening and Genetics

By Michelle Forman, Senior Specialist, Media, APHL

I’m in a unique position when it comes to the newborn screening work that public health labs perform.  I’m an employee of the Association of Public Health Laboratories, so I review materials and learn about the newborn screening programs in each state on a professional level.  It is my job to understand these programs and to convey how they work to a larger audience.  At the same time, I’m expecting my first baby in a few weeks.  I am now faced with newborn screening from the perspective of a parent – my baby will have her heel pricked and her blood will be sent to the public health lab in my state.  Suddenly my interest in this program is far more personal than it was when I started at APHL.

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Yesterday MSNBC.com ran an article about the number of false-positive newborn screening tests around the nation.  The story featured a couple whose baby boy initially tested positive for cystic fibrosis, a chronic disease that affects 30,000 people in the United States.  It took months* for a follow-up test to reveal that it was, indeed, a false-positive.  The baby boy did not have cystic fibrosis.

However, the article focuses on the difficult and stressful time that the family had to wait to learn that good news.  It almost presents the risk of false-positives as opposition to newborn screening.  As a future parent, I can only imagine how scary those months of waiting must have been.  But aren’t a few terrifying days, weeks, or months better than losing your baby to a condition that could’ve been discovered and treated?

As an APHL employee, I have the advantage of understanding the intricacies of the newborn screening programs at public health labs.  I know that there is a risk of a false-positive, but more importantly I know that the labs are working to catch dangerous conditions before they forever alter or even end my baby’s life.  That is invaluable to me.

So why do false-positives exist?  According to Gary Hoffman, Wisconsin State Laboratory of Hygiene Newborn Screening Laboratory Director, there are a number of reasons why false positives exist: assay precision, weight of the baby, specimen collection age, feeding at time of specimen collection, a biological variation, and where the screening laboratory sets analyte cutoffs, to name a few.  “The goal in any screening assay is to minimize false negatives; therefore screening laboratory analyte cutoffs are established at the lowest or highest level possible to detect those babies most likely to have the disorder,” explained Mr. Hoffman.  That is, there are times when false-positives are an unfortunate product of ensuring that the highest number of babies who do in fact have these disorders are detected.

Personally, I’m willing to face the risk of a false-positive.  I would rather have my world shaken for a brief period of time than to lose my baby forever.  Newborn screening saves lives; that’s enough for me.

*While the article does state that it took four months for this parent to receive a definitive diagnosis, that is not the norm.  Most false-positives are resolved within a couple of weeks at the most.

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PKU, the Birth of Newborn Screening, and one Family’s Story

Feb 10 2011 :: Published in Newborn Screening and Genetics

By Michelle M. Forman, Senior Specialist, Media, APHL

Every year in the United States public health laboratories test over 97% of the four million babies born for genetic and inherited disorders.  Approximately 5,000 babies are identified with a genetic or congenital condition annually in the US.  Who are those babies?  Who are those families?  What are those disorders?

One Family’s PKU Story from Michelle Forman (APHL) on Vimeo.

John Adams, president and CEO of Canadian PKU and Allied Disorders, came to speak with our staff.  His son, now 24 years old, was diagnosed with PKU (Phenylketonuria) thanks to routine newborn screening.  In his 24 years of being a PKU parent, John has become an expert on the disease.

A little background: PKU is a genetic disorder of the metabolic system caused by a deficiency of one of the thousands of enzymes in the human liver (phenylalanine hydroxylase (PAH)).  This enzyme is required for the breakdown of phenylalanine (Phe) and its conversion into Tyrosine, a precursor to some neurotransmitters.  Phe is an essential amino acid not made by the human body that is found in most foods that contain protein. In untreated PKU, Phe accumulates to abnormally high levels in the blood, tissues and organs and crosses the blood-brain barrier. Elevated Phe levels and/or its metabolic consequences are toxic to the brain, central and peripheral nervous systems.

If untreated, PKU causes severe irreversible mental retardation.

After discovery of the disease and extensive research, the first PKU patient was successfully treated in 1951. By strictly following a special diet, PKU can be treated but not cured.  Patients may never have regular milk, cheese, eggs, meat, fish and other high protein foods and nothing that has aspartame (an artificial sweetener commonly found in diet drinks and other foods).  As of 2007, there is also an FDA approved drug that is effective for some people living with PKU.

In 1958, Dr. Robert Guthrie developed the bloodspot card and test for PKU; eight years later this test became the standard in the United States.  This was the first newborn screening test.

This summer I’m going to be a mom for the first time.  The thought of having a baby with any kind of disability that could make its life more complicated scares me like it must scare all parents.  Working for APHL, I spend a lot of time reading and writing about newborn screening – I clearly understand its value to the public’s health.  What John Adams’ presentation made me realize is that newborn screening could save MY baby.  Suddenly this issue is as much about me as it is about every other parent and baby in the country.  I can sleep better at night knowing that as soon as my baby comes into this world, its heel will be pricked and its specimen card will be sent to the public health laboratory in my state.  If there is anything wrong, I’ll know.

I can only imagine how terrifying those first days, weeks, and months were for John and his family as they were forced to learn about PKU as quickly as possible.  Now, thanks to newborn screening, they can proudly say that their son graduated from college and has a full, normal life ahead of him.

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Heel-Prick Test Conducted By Labs Ideal for Genetic Disorders

Apr 16 2010 :: Published in Newborn Screening and Genetics

A virus that causes about 20% of hearing losses in newborns has received considerable attention of late in mainstream media. A recent study published in the Journal of the American Medical Association (JAMA), finds that this virus—the cytomegalovirus or “CMV”—can be best detected using existing analytical methods, rather than the one evaluated in the study. [insert reference as footnote], For the immediate future, medical practitioners, laboratory scientists and the families they serve will need to rely on other proven technologies, such as testing a baby’s saliva.

Newborn screening is a complex process that can be confusing even to medical experts. Recently a CBS News segment on the JAMA study reported erroneously that newborn hearing tests are conducted at state public health laboratories. This is incorrect. A baby’s hearing is tested at the hospital within 24-48 hours of birth; that test is not performed by state newborn screening laboratories.

State laboratories do, however, shoulder most of the responsibility for newborn screening in the US. They conduct 97% of the testing for the core panel of 29 congenital disorders recommended by the American College of Medical Genetics (ACMG) and the U.S. Secretary of Health and Human Services Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and children (ACHDGDNC). Newborn screening by state laboratories protects over 4,000 children a year from the potentially devastating effects of Phenylketonuria (PKU), Medium Chain Acyl-CoA Dehydrogenase deficiency (MCAD), Maple Syrup Urine Disease (MSUD) and other serious disorders that can lead to death or life-long disability. In addition to the 29 ACMG “Core” conditions, the public health laboratory in some states also screens for some of the 25 “Secondary” conditions.

A new testing method would simplify and expedite testing for CMV if the method could be adapted to use the same instrument platforms as used to detect other newborn screening conditions.

Newborn screening starts with a single heel-prick collected at the birthing facility soon after a baby is born. Blood droplets are collected on a filter paper kit, allowed to dry and then sent to the state public health laboratory for testing using specific analytical tools to detect congenital disorders. Methods used by the newborn screening laboratory include fluorometric and colorimetric immunoassays, electrophoresis, high performance liquid chromotography and tandem mass spectrometry (MS/MS).

The introduction of MS/MS revolutionized newborn screening – allowing labs to test for dozens of conditions simultaneously. Currently, not all diseases and conditions can be detected via MS/MS (e.g. biotinidase, galactosemia) but the aim is to detect more disorders using this efficient and effective method to provide more rapid detection of congenital conditions to protect the nation’s children.

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National Public Health Week — APHL Honors Public Health Laboratories

Apr 08 2010 :: Published in Environmental Health, Food Safety, General, Global Health, Infectious Diseases, Newborn Screening and Genetics, Public Health Preparedness & Response

By Mary Shaffran, Senior Director, Public Health Programs, APHL

Along with our partners, the public health laboratories are working to keep communities healthy. Laboratorians work behind the scenes. Public health laboratories serve as the nation’s early warning system for diseases and other health hazards. When health risks emerge or re-emerge, public health laboratories analyze the threat, provide the answers needed to mount an effective response and act to protect the public in collaboration with other decision makers. They protect our health by monitoring continuously for diseases and other health hazards.

Just a few of the things that laboratories are doing every day to make sure that you and your neighbors are healthy:

- Public health laboratories in every state are the backbone of our nation’s infectious disease surveillance networks. They are analyzing infectious diseases such as influenza to determine if they are changing and reporting this information to public health officials so they can determine effective prevention measures. [More on the Infectious Disease Program]

- More than 11,000 babies are screened daily for potentially life-threatening genetic and congenital disorders

  • Matt and Noelle Bamonte discovered that their seemingly healthy baby boy had PKU, a serious disorder that can cause brain damage if not treated from a very early age. Noelle is certain that without laboratory screening, her little boy would have been vastly different. Now, aside from a strict diet, he lives a normal life! [More of their story]

- Public health laboratorians confirm whether people are infected with sexually transmitted diseases, and confidentially report back the results so that people can be treated and others are not exposed. [More on the Sexually Transmitted Disease Program]

- In order to detect foodborne outbreaks and ultimately keep Americans safe from foodborne disease, public health laboratorians test human specimens and food samples for bacteria such as Salmonella and E. Coli.

  • In 2006, the New Mexico public health laboratory pinpointed the exact source of the E. Coli that made its way into spinach and made hundreds of people sick. [More on the E.Coli outbreak]

- Public health laboratorians test environmental, clinical and food samples to determine whether they contain hazardous agents in order to protect Americans from terrorist attacks, and they are able to do this 24/7.

  • California scientists are collecting specimens from 2,000 people to test for the presence toxins used in used in industry, agriculture and the home. They’ll use this information to explore such things as the connection between exposure and diseases, and to examine changes in exposure over time and the connection to changing health policies and industry regulations working to reduce exposure. [More on the work in California]

- Public health laboratorians test water samples in flood-ravaged areas to ensure that the water is safe to drink.

  • In 2008, severe flooding in Mason City, Iowa caused the closure of the water treatment facility. Residents were advised to boil their water until the system was restored and the water was tested to ensure it was safe to drink. The Hygienic Lab rose to the task and tested the water quickly bringing the treatment operation back online. [More on the floods in Iowa]

We would like to thank our unsung heroes in lab coats for protecting the public’s health – every day. Join APHL and our many partners in celebrating National Public Health Week. For more information, visit http://www.nphw.org/.

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