SCID – The Recommended Newborn Test for which Your Baby is Probably Not Being Screened

Guest blog post by Emily Hovermale, Public Policy Manager of the Immune Deficiency Foundation

Severe Combined Immune Deficiency (SCID), commonly known as bubble boy disease, is a primary immunodeficiency disease.  Affected infants lack T lymphocytes; the white blood cells that help resist infections due to a wide array of viruses, bacteria and fungi.  Babies born with this condition are born with little or no immune system and every germ, even as mild as the common cold, can be potentially devastating.

Babies with SCID usually  appear healthy at birth.  But without early treatment, most often by bone marrow transplant from a healthy donor, these infants cannot survive.

SCID has been characterized in the medical community as a pediatric emergency. If a baby with SCID receives a bone marrow transplant in the first 3.5 months of life, the survival rate can be as high as 94 percent. However, the survival rate drops to less than 70 percent for infants who are transplanted after that age.  Without treatment, SCID is universally fatal.

The good news is that there is a test that can screen for this condition at birth.  In May 2010, Kathleen Sebelius, Secretary of Health and Human Services (HHS) announced that SCID be added to the 29 disorders as a core condition on the recommended universal screening panel for all newborns in the United States.  This panel consists of disorders for which the U.S. Department of Health and Human Services has recommended each state provide for mandatory newborn screening.  Ultimately, it is the decision of each state when and if to implement screening for the recommended conditions.

The Immune Deficiency Foundation (IDF), founded in 1980, is the national patient organization dedicated to improving the diagnosis, treatment and quality of life of persons with primary immunodeficiency diseases through advocacy, education and research. One of its key efforts, the IDF SCID Initiative was established to address the acute need for a program for SCID education, awareness, and diagnosis.  The IDF SCID Initiative is currently leading a national campaign with the goal of seeing newborn screening for SCID fully implemented in all 50 states.

It is imperative that we establish SCID newborn screening programs nationwide to protect children who are born with this condition.  It is  unconscionable that every year children die from this devastating disease when a screening test and effective treatment are available.

The status of newborn screening for SCID throughout the country is constantly changing as more and more states realize the importance and value of implementing this test. States are making definitive strides toward implementation with the knowledge that screening for SCID will literally save children’s lives.

States and Territories Currently Screening for SCID:

IDF has created the IDF SCID Newborn Screening blog to keep track of the many moving pieces in the campaign for universal SCID newborn screening.  It is constantly being updated with new information and  is an effective way to help the public understand the process of adding a new condition to a state screening panel.  , Advocates are recognized for tirelessly working for screening, and helpful information is presented for others on ways to join in the effort.  The blog is widely seen as a resource of information throughout the newborn screening community, with approximately 600 visitors and 1,000 page views per month and constantly growing.

So, please visit the IDF SCID Newborn Screening blog to learn more about the current state activities  throughout the country and share with us your own ideas and experiences fighting for SCID newborn screening!  If you haven’t already become involved, hopefully reading the posts here will help motivate you to join in the efforts!

You can find out more and download educational materials about SCID screening on our website http://primaryimmune.org/patients-and-families/idf-scid-initiative/idf-scid-newborn-screening-campaign.

“Your daughter’s second newborn screen came back abnormal. We need to repeat the test as soon as possible.”

I am a mother who felt confusion build to terror as she grasped the meaning of those words.

Who researched, to the end of the internet, the disease that might affect her daughter.

Who felt her heart break as she read the list of possible complications.

Who agonized while she waited to see the pediatrician.

Who, in desperation, reached out to the state screening personnel seeking answers.

Who wondered, “Why is this happening to my family, to my baby?”

Who wanted to rage and scream and cry, all at the same time, even as she knew her family couldn’t afford that luxury.

Who pushed a stroller through the doors of a children’s hospital in disbelief on her way to an appointment with a geneticist.

And I am a mother who received the news every parent in my situation hopes for: “Her follow up tests are normal.”

I am the mother of a child whose abnormal results are what medical professionals call a false positive, a misnomer if ever there were one.

My daughter does not have the disease we thought she might.

But if she had, the newborn screening process would have saved her life.

As much as I hate what my family went through—our fear and anguish and heartbreak—it is nothing compared to how we would have felt if she had that disease and went undiagnosed.

It is nothing compared to what some families live with, day in and day out.

Before we got that call from our pediatrician, I hadn’t thought about any of the diseases targeted by the newborn screening process.

In fact, when her doctor wanted to repeat the screen at her two week appointment, as mandated by our State, I resisted.

After all, her initial screening results came back normal. Why should we put her through another test?

Why?

Because it might have saved her life.

A heel stick is nothing compared to the alternative.

Nor is a false positive.

I am a mother who believes in the value of the comprehensive newborn screening process.

And I urge all families to participate. Twice.

Natalie writes Life on the Mama Track, where she documents her journey from Harvard lawyer to work-at-home mom.   She and her family live in the suburbs outside Washington, D.C.  She has shared the complete story of her daughter’s newborn screen on her blog. 

However, we are also very familiar with the complex technical processes that make up the screening program in each state, and the need for thoughtful decisions about what conditions should be included on the screening panel. Because of these issues, we feel it is important that we let people know about where we stand on these topics.  We have spent time refining our position on how conditions get added to the recommended screening panel, on the need for a consistent national approach to newborn screening, and on how essential it is to support research into the medical conditions and the testing and follow up practices of healthcare providers.

We have taken these discussions and developed a short, to-the-point position statement about addition of conditions to the uniform newborn screening panel, as recommended by the members of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children and the Secretary of the Department of Health and Human Services. It can be found on the Save Babies Through Screening Foundation website at http://savebabies.org/about_mission.html by selecting the “Position Statement” section. Please take the time to read about what we do by visiting other areas of our site. Let us know what you think about our work and about our position on adding conditions to the uniform panel. We’d love to start a conversation…a very big conversation…about this most important of topics!

Something was wrong. First, Cora was pale, and then she wasn’t breathing. Cora was dead.

She’d just been born five days earlier and was a healthy baby. I delivered her after a normal labor after a normal pregnancy. My baby was dead, and I had no idea why.

A few days later, the coroner called and told me congenital heart disease took Cora’s life. I’d never heard of the term. I still had so many questions. I started a research mission that will most likely last the rest of my life, to make sure no other mother finds out about her child’s CHD from the coroner.

I quickly came across pulse oximetry screening as something that probably would have saved Cora’s life. I learned that the simple, non-invasive screening detects some CHDs, and since Cora had a problem with her pulmonary veins, there’s a good chance her oxygen saturation would have been low. We’ll never know.

Building on the work being done at the federal level to add pulse oximetry screening for critical congenital heart disease (a subset of CHDs that can be detected by pulse ox) to the newborn panel, I worked to get legislation introduced and passed in my home state. I’m currently helping other advocates in their states.

I took newborn screening for granted during my pregnancy with Cora. I never realized that a simple screening could be the difference between life and death. Newborn screening, including pulse ox, does indeed save lives.

To find out more about pulse oximetry screening, visit http://www.pulseoxadvocacy.com or http://www.childrensnational.org/PulseOx/. More information about Cora: http://www.corasstory.org.

Our Mission

The mission of Save Babies Through Screening Foundation, Inc. is to improve the lives of children and their families by working to prevent disabilities and death resulting from disorders that should be identified by newborn screening tests. The Foundation’s goal is to see that every baby born in the United States is screened successfully, effectively, and comprehensively.

Save Babies Through Screening Foundation educates parents, healthcare providers, and policy makers about available comprehensive newborn screening. We emphasize the importance of obtaining all test results requiring follow-up actions within 5 days of birth, and the importance of prompt diagnostic testing and treatment/management when needed.

Our Goals

Save Babies Through Screening Foundation, Inc. promotes its mission by:

1. Improving awareness of disorders that can be identified by newborn screening
2. Facilitating communication among screening programs, support groups, and families
3. Assisting parents in understanding their state’s newborn screening requirements
4. Supporting development and use of state newborn screening guidelines and regulations
5. Encouraging prompt identification of newborns affected by detectable disorders
6. Advocating for and supporting enhanced resources for newborn screening including:
   1. improved testing
   2. increased parent and professional education
   3. short-term follow-up care programs
   4. long-term follow-up programs for treatment/management and related services
   5. research and development.
7. Promoting consistency in policies and service delivery among state screening programs.

But I have no family history… why is newborn screening important to me?

My son Damian was born on April 17, 2008 at 3:41 PM and weighed a healthy 8 lbs. 9 oz. He is our sixth child and all our children had been perfectly healthy, so when the nurse took him to do his first newborn screening test, we really didn’t give it a second thought. And I didn’t have to give it a second thought until Damian was five days old.

That’s when the pediatrician called us personally at 7:00 PM. I instantly knew something was wrong. She told us that Damian’s newborn screening had come back abnormal for 3-MCC*. I was in such a state of shock that I didn’t really ask her any questions.

She asked us a few questions about how he was doing (was he sleeping too much, difficult to wake, any vomiting, etc.), and we had to take him to our local children’s hospital to get a second screening as well as some other lab work done.

The entire time, I kept thinking, “but we have five other children, we have no family history of this, it just cannot be the case!”

She told me not to worry too much until we got the results from the second newborn screen and lab work. But of course, I worried about it every minute of every day!

After about a week, the results came in and again confirmed the 3-MCC diagnosis. The doctor ordered some more follow up tests, which confirmed that Damian had 3-MCC. I still questioned it and refused to believe it. How could this be happening when we had so many other children who were not affected? We had a very hard time accepting this. We had five other children who were completely healthy, and it just felt unbelievable that we could carry such a genetic disorder. The geneticist explained to us that we had a 25% chance each time we had a child to have an affected baby. We really just got a lucky roll of the dice with our five previous children.

It was a lot to deal with initially. Time has helped us to realize that his early diagnosis was a blessing, as we now have the best chance of preventing the complications associated with his disorder.

We did have four of our other children tested, because there was a chance that they also had the disorder. Only our fifth child had been screened at birth for 3-MCC, as our state did not add 3-MCC to their newborn screening panel until July 2004. Although three of our children did have lab work results that suggest they are carriers, none of our other children have the disorder.

The journey we’ve been on since Damian’s diagnosis has had its ups and downs, but has already taken us amazing places. We have met some of the most wonderful families and some of the kindest people we’ve ever come across in our lives.

Damian is an adorable, strong little guy who has truly changed our family. We have learned to see the blessings in everything, even in times when life is really difficult. When life feels overwhelming, I learned to just take things day by day, hour by hour, or even minute by minute.

*So what, you ask, is 3-MCC? Please go to the Save Babies Through Screening website at http://www.savebabies.org/ips_disorder.html and scroll down in the box at the top left to the disorders description under “organic acidurias.” There you’ll find a brief description and a link to more detailed information.

Please meet Alena and Mia Rose, our happy and healthy children. They both have a metabolic disorder called classical galactosemia. Classical galactosemia is a rare metabolic disorder that affects about 1 out of 60,000 babies born in the United States1. The disorder can be identified through newborn screening and can be deadly if not detected and treated early in life.

Alena was born in November 2003 in Portland, Oregon. Portland is right across the river from Washington State. Had we lived in Washington, our story might have had a different ending. Why? Read on to find out.

I had an easy pregnancy with my first child. Everything was planned and went according to that plan. We attended birthing classes, selected a pediatrician, and on the scheduled date went to the hospital for induction. The delivery was easy and our beautiful baby girl was born. She and I had a hard time with nursing, so she got a bottle right away. It seems as if Alena did not like the formula. She drank very little, and spat up a lot. To me, a first time Mom who had never been around babies, it seemed normal, so I did not worry. In the evening of her first day of life, we brought Alena to the nursery for the night. On the way back to the room I noticed a wall with brochures. I picked up the brochure about newborn screening, which reviewed its importance, and told a bit about metabolic disorders. Neither Ron nor I had ever heard about it. As a worrier, I of course, got immediately concerned; Ron reassured me that the chances of anything being wrong were minimal. We stayed in the hospital for another night and were discharged. Alena was all packed up in her car seat, bags packed, and we were ready to leave when I remembered the brochure. I asked the nurse “has this test where the babies’ heel is pricked been done”. The nurses checked the file, and guess what? For some reason, even though it is a protocol, Alena’s newborn screen had not been done. They took her out of the car seat, whisked her away, pricked her heel, brought her back, and home we went. Alena continued to eat only very little, and spat up a lot. We kept charts on the amount she was eating. In the night from day five to day six, she spat up everything, she was dry heaving, and we knew something must be wrong. We saw her pediatrician the next morning. Alena’s amazing pediatrician had a gut feeling that something was not right, and recommended we go straight to the hospital, which we did. Then, at around five o’clock, a physician came in the room carrying a bottle of soy formula and told me to throw away the other formula. “We now know what is wrong with your baby” he said. Her newborn screening results showed that she tested positive for galactosemia. I had never heard about galactosemia,. so I asked what it was and was told that it is a rare metabolic disorder. He went on to tell me that in the infant stage the babies affected by classical galactosemia can develop E. coli meningitis. Then Alena was whisked away for a spinal tab; the infectious disease physician visited and immediately put her on different types of antibiotics, not waiting for the results of the spinal tap. This is what saved our child! The newborn screen, a physician from the state lab tracking us down that Thanksgiving weekend, our extraordinarily amazing physician, and another amazing infectious disease physician. The next day, Alena had a seizure and ended up in the Pediatric Intensive Care Unit.

You may remember the first paragraph and ask what does any of this have to do with the Oregon-Washington state line? Well, when Alena was born, the panel of the Washington Newborn Screen did not include classical galactosemia. If we had driven to Washington for delivery, the outcome could have been very different!

Our second daughter, Mia Rose, was born in 2006. Since we already had a child with classical galactosemia, we knew that the chance for our second child to have this disorder was 1 in 4 or 25%. This time, however, we knew about the newborn screen and were prepared. We were not scared about classical galactosemia, just frightened that she might also develop E. coli meningitis. We prepared for her arrival. I contacted the Save Babies Through Screening Foundation, Inc. to find out more about the additional, optional, more comprehensive newborn screen. We requested this additional screen and made sure that there would be plenty of soy formula at the hospital. Once she was born, my OB put up signs everywhere on the crib saying “ONLY FEED SOY”. My amazing obstetrician also planned to have cord blood sent to lab right away so that we could get a diagnosis as soon as possible. We had planned to feed her only Soy formula until the negative – as we were convinced – diagnosis would come back. Both of us were surprised when, based upon the cord blood, Mia Rose was also positive for galactosemia. My biggest fear was that Mia Rose would also get E. coli meningitis. Luckily she never got ill!

Our children are healthy only because of newborn screening – I do not want to imagine where we would be today, or what would have happened had Oregon not tested for classical galactosemia on the Newborn Screen, or if I had not read that brochure.

Oh, and by the way, galactosemia is a part of our life, but it does not rule our lives. It is manageable – you can learn more about us and follow our daily life with galactosemia at my blog www.galactopdx.blogspot.com

1. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001405/ accessed November 12th, 2011