Family Stories are the Best Way to Grasp the Value of Newborn Screening

Sep 18 2014 :: Published in Newborn Screening and Genetics, Uncategorized

By Michelle M. Forman, senior media specialist, APHL

Family Stories are the Best Way to Grasp the Value of Newborn Screening | www.aphlblog.org

Did you know that September is National Newborn Screening Awareness Month? Even though this simple test is performed routinely on all babies born in the United States, it is still important to understand what it tests for and what to do if your baby has abnormal results. There is no better way to grasp the value of newborn screening than through the stories of families who have lived it.

I have gone through the newborn screening process twice, once with each of my children. The nurse came, whisked the baby away for a quick test and brought her/him back with a bandage on their heel. If I didn’t work in this field, I probably wouldn’t have asked. There was just too much going on during those days in the hospital. But I did ask – and I asked the pediatrician for their results. Fortunately, my children’s results were both normal.

Yes, newborn screening is looking for conditions that are extremely rare. Yes, the odds are that your baby does not have one of these hereditary conditions. But it is possible that they do and, if caught early by this amazing public health service, they can be treated and go on to live a healthy life.

After coming to know the families who shared their stories with me, seeing my baby taken to the nursery for that little heel prick was of immense comfort. Below is a list of all of the personal and family stories we have on our blog sorted by condition. They are stories of fear, stories of close-calls and many are stories of joy. Were it not for newborn screening, these families would have dramatically different lives than they do now. But instead, they are watching their children reach milestones, win awards, graduate and even start families of their own.

Thank you to the nurses, doctors, laboratorians and advocates working on newborn screening every day!

3-methylcrotonyl-CoA carboxylase deficiency (3-MCC)

Biotinidase Deficiency

Congenital Hypothyroidism

Critical Congenital Heart Disease (CCHD)

Cysitic Fibrosis

Galactosemia

Isovaleric Acidemia

Malonic Aciduria

Maple Syrup Urine Disease (MSUD)

Phenylketonuria (PKU)

Propionic Acidemia

Severe Combined Immunodeficiency (SCID)

Sickle Cell

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Newborn Screening: Parents are the Best Advocates

Apr 04 2013 :: Published in Newborn Screening and Genetics

By Thalia Wood, MPH, Specialist, NewSTEPs, APHL

I came to the Association of Public Health Laboratories after 11 years as the Newborn Screening Program Manager for the State of Alaska. I was the follow-up coordinator who ensured infants who screened positive received diagnostic testing and treatment as appropriate. Part of my role there was to establish the Newborn Screening Advisory Committee and conduct regular meetings to review procedures and policies, write position papers, and discuss ways to improve the newborn screening process.

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Newborn Screening -- Babies

In 2002 a baby was born in Alaska with maple syrup urine disease (MSUD) at a time when many states were not yet screening for this condition.  The infant’s parents became advocates for newborn screening, writing letters to providers who felt newborn screening was not necessary due to the rarity of the disorders. They also wrote a short story which was printed on the newborn screening brochure that Alaska provided to parents.

This same mother became a member of the Alaska Newborn Screening Advisory Committee and an advocate for expanding the newborn screening panel when the state added tandem mass spectrometry conditions in 2003.  She joined me on a local Public Radio show called Line One: Your Health Connection to discuss newborn screening and its benefits to families.

Increasingly, families with children with newborn screening conditions are sharing their stories. These stories have become a powerful advocacy tool by putting a face on these conditions.  Family stories emphasize how early treatment can make a significant difference in a child’s development, and are often used as part of educational presentations to medical staff and in materials distributed by the Alaska Department of Health and Social Services to expectant families.

Other families in Alaska have also become vocal advocates for newborn screening, particularly for expansion efforts. In 2006 the father of two children with cystic fibrosis (CF) joined Alaska’s Newborn Screening Advisory Committee.  When CF was being considered for addition to the state’s newborn screening panel, he shared his family’s story to emphasize the value of the addition.  Thanks to his contribution and that of other families, cystic fibrosis screening was added to Alaska’s panel in 2007.

Recently a young mother who lost a child to severe combined immunodeficiency (SCID) presented a very passionate plea for the addition of this condition to the screening panel to the Alaska advisory committee; the committee agreed to begin screening as soon as possible. The date of implementation will be determined by Oregon Public Health Laboratory (OPHL) which handles screening of Alaska’s bloodspot cards.

There is no more compelling testament to the value of newborn screening than family stories.  Families in Alaska, like others from across the U.S. who have shared their experiences, do so because they value newborn screening and how it has saved them time, money, frequent hospital visits and, most importantly, their children’s lives.

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APHL Annual Meeting Day 1

May 20 2012 :: Published in Annual Meeting

Climate Change & Public Health: So Much More than Drowning Polar Bears


Howard Frumkin, MD, DrPH, and Jonathan Patz, MD, MPH, of the two UWs (respectively University of Washington and University of Wisconsin), instructed, charmed and inspired a standing-room-only crowd at this session. Here are a few random takeaways:

Jonathan Patz, MD, MPH, Global Health Institute, University of Wisconsin discussing Climate Change and Public Health
- The dynamics of climate change are anything but simple. Climate change arises from complex, reinforcing feedback loops, and the pace of change is rapidly accelerating.

- Climate change is very regional in how it plays out even though it is a global phenomenon. Yes, sea levels will rise (Please note, those of you who live in lower Manhattan or Brooklyn!) but arid regions such as the US Southwest will become dryer, potentially leading to wild fires and a reduction in arable land.

- Public health practitioners, environmental scientists and climatologists must integrate their data to respond effectively to the effects of climate change. [Could public health laboratories, with their experience in developing laboratory informatics standards and systems be conveners in launching a multidisciplinary approach to data collection?]

- Urban design is public health policy. It’s difficult to exercise in your neighborhood if there are no sidewalks.

- Public health laboratories can mitigate the effects of global warming by greening their facilities. Individually and collectively, such changes do have an impact.

- We must rethink how we communicate with public audiences about the health impacts of climate change. Research demonstrates that, although the public trusts scientists as spokespeople, it is not persuaded by scientific data. What works?  Messages from celebrities and discussion of pocket book issues. I know, it’s frustrating. And we can’t use a single set of messages because popular opinion diverges widely on the issue of climate change.  We need messages for each audience.

- Climate change could be the greatest public health opportunity we’ve had in over a century. If we respond by eating less, exercising more, changing how we design our cities and reducing carbon emissions – among other interventions – we could create a healthier world.

Panel discusses newborn screening: (From left) Susan Tanksley, PhD, Texas Department of State Health Services; Alex Kemper, MD, MPH, Duke University; Michele Caggana, ScD, New York State Department of Health; Charles Brokopp, DrPH, Wisconsin State Laboratory of Hygiene

Newborn Screening: Adding New Tests

 

Newborn screening (NBS) experts from Wisconsin, New York and a consultant to the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) gave a thorough rundown of the newborn screening process and how new conditions are added. Alex Kemper, MD, MPH, MS gave an overview of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children; Dr. Chuck Brokoff, DrPH, director of the Wisconsin State Laboratory of Hygiene, shared their experience expanding newborn screening testing in Wisconsin and beyond; and Dr. Michele Caggana, Sc.D., FACM discussed the Implementation of NBSG tests in New York. From ethical considerations to regulatory hoops, there’s lots to consider when expanding an NBS program. Check out the highlights:

-States choose what to screen for, but it’s informed by the committee’s evidence-based recommendations.

-Anyone can nominate a condition to be evaluated by the committee. Key criteria considered: It should be a well-defined condition, a good screening test must be available, and treatment should lead to better outcomes.

-The committee’s recently recommended conditions, like Severe Combined Immunodeficiency (SCID) and CCHD, all have similar characteristics: well-characterized condition, early intervention leads to benefit, accurate and feasible screening test, diagnosis and treatment is available. (Characteristics of conditions not recommended for addition include: uncertain benefit of early detection, challenges establishing diagnosis, and lack of diagnostic and treatment services.

-Traditional Screening Criteria: Screen for conditions that are an important health problem, the natural history should be understood, detectable at an early stage, a suitable test is available, and risks should be less than benefits.-Wisconsin conducts newborn screening for approximately 68,000 newborns a year in Wisconsin and 15,000 non-Wisconsin newborns.

-Educating parents and health care providers about the NBS process and significance of screening is key to any NBS program.

-Elements of a genetic screening program: Availability to all babies, education of parents, timely follow-up on positive results, appropriate diagnostic workup and treatment, cost-effective assessments, continuous monitoring of program.

-Lab characteristics of a good screening test: Simple, rapid, safe, reliable/precise, accurate

-Ethical Considerations: Should genetic screening be conducted? Should NBS be mandatory? Can screening specimens or DNA be saved for later use?

-Screening for SCID has a high potential for successful treatment. Early intervention leads to better outcomes, more than 97% survival.

-Key considerations when adding a new condition to an NBS panel: input from experts and constituents, consider conducting a pilot study, public and professional education for the public, validation of screening method.

-Wisconsin implemented routine screening of SCID in January 2008 – and later, the Secretary’s committee added it to the core screening panel for all states, Jan 2010.

-How are new tests added? By legislation or commissioner’s signature. The lab’s NBS program puts together a package (the condition, outcomes, cost data, etc), sends to regulatory affairs at the dept of health, and the executive secretary and governor’s office signs off.

- In new York state, on average 1,000 babies born a day.

-New York added Krabbe Disease to their panel: substantial preparation, put together regulatory impact statement/package, conducted feasibility and pilot studies, ensured supplies of reagents for daily testing, and ensured follow-up procedures were in place. They commenced testing in 2006.

-When adding a new condition to a panel, clinical community buy-in early on is key, and they must remain engaged.

Top 5 Tweets


@APHLnews Mary Selecky is singing to us about Washyourhandsington– I’m not even kidding. What a cool Secretary of Health! @wa_deptofhealth #APHL

@MHeintzAPHL Dr. Conti: “everything we do is environmental health.” #APHL

@meganlatshaw For every 1°C increase in temperature, saw 7% increase in diarhheal disease in Peuvian hospital. – Jonathan Patz #APHL

@Go_Vikes PulseNet helped detect at least 8 of 10 of the past decade’s largest national foodborne outbreaks! #APHL

@ShariShea23 Metrics! Metrics! Metrics! They are becoming increasingly important to demonstrating the value of foodborne illness programs. #APHL

See more of the top tweets here!

Other Annual Meeting Blog Posts:

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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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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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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.

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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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