Lab Culture: Introducing PKU Life Podcast with Kevin Alexander

Introducing: PKU Life Podcast with Kevin Alexander | www.APHLblog.org

Fifty-five years ago, newborn screening was born. At the time, though, that little heel prick was performed to screen for only one condition: phenylketonuria (PKU). Without early intervention, babies born with PKU faced severe cognitive, behavioral and other neurological disorders. The advent of PKU newborn screening allowed health care providers and families to make critical changes to a baby’s diet to prevent those consequences.

TIntroducing: PKU Life Podcast with Kevin Alexander | www.APHLblog.orgoday, December 3, is PKU Awareness Day. It’s hard to say where newborn screening would be without that first PKU test. And 55 years later, it’s hard to say where newborn screening would be without the families and individuals living with PKU who have shared their stories to convey the value of this simple test. One of those individuals is Kevin Alexander.

Kevin has been a leader in the PKU community simply by sharing his story and his experiences living with PKU. He has spoken at conferences and events around the world, created a video documentary about his life, served as a leader and friend to others living with PKU, and now he shares his voice in a new podcast.

For this PKU Awareness Day, we are sharing Kevin’s podcast, PKU Life Podcast with Kevin Alexander. We are so appreciative of Kevin’s willingness to both share with and listen to those in the newborn screening community. Kevin, thank you for your leadership, friendship and generosity!

Listen here or subscribe wherever you listen to podcasts:

 Links:

PKU Life Podcast with Kevin Alexander – Facebook

PKU Life Podcast with Kevin Alexander – Instagram

PKU Life Podcast with Kevin Alexander – Twitter

APHL’s Newborn Screening Program

APHL blog posts about PKU

PKU Awareness Day

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New Treatment for Phenylketonuria (PKU) Clears Brain Fog

In the 1959 novella Flowers for Algernon by Daniel Keyes (and the 1968 film Charly), 32-year-old Charlie Gordon, a janitor at a New York City bakery, undergoes experimental surgery that has boosted the intelligence of a

Lab Culture Ep. 5: My Niece’s Positive Newborn Screen

My Niece's Positive Newborn Screen | www.APHLblog.org

My Niece's Positive Newborn Screen | www.APHLblog.orgFour years ago, as APHL joined with partners to celebrate the 50th anniversary of routine newborn screening in the United States, newborn screening hit more closely for APHL staff than it ever had before. Michelle Forman, manager of media and Lab Culture host, received a text that her new niece, Sloane, had a positive newborn screen. Her results were out of range for PKU. In this episode, Michelle interviews Sloane’s mom, Judith Forman, about that experience.

The post Lab Culture Ep. 5: My Niece’s Positive Newborn Screen appeared first on APHL Lab Blog.

Newborn screening saved these babies. How are they doing now?

By Michelle Forman, senior media specialist, APHL

In 2012 and 2013, as we celebrated the 50th anniversary of newborn screening, APHL began gathering stories from families who had a child born with a condition detected with this invaluable little heel prick. When we first spoke, some of those families were still in their first and second years of managing these diseases. The news that their newborn had a potentially devastating condition that would need to be managed with a strict lifelong diet or an invasive surgery was still very fresh. Today those infants and toddlers are happy, healthy, growing kids! I checked in with their moms to see how they’re doing and to get some new photos.

Evan’s Greatest GiftNewborn screening saved these babies. How are they doing now? | www.APHLblog.org

Evan is now four-and-a-half and a big brother!! His little sister was born healthy. We had newborn screening done right away to confirm that she does not have MSUD. Evan loves his little sister and takes the role of big brother seriously. He just started preschool and loves it! He played tee ball this summer, learned to swim, and learned to ride a bike! Of course all of these activities come with bumps and bruises, but we love watching him live and enjoy life!!

No Story is the Best StoryNewborn screening saved these babies. How are they doing now? | www.APHLblog.org

Maren is such a wonder and joy. Sometimes I wonder what she could have been like without newborn screening. But, sadly, I know. She wouldn’t be here today…at all. Thank you to newborn screening for letting us keep this beautiful gift!

On the Verge of a Coma, Baby Carter’s Life was SavedNewborn screening saved these babies. How are they doing now? | www.APHLblog.org

Carter is now two – almost three – and recently started preschool. He is a rambunctious little boy who loves sports and can usually be found with some kind of ball in his hand. He is a very charming boy who flirts with all the girls and wins over all the guys. We have been able to effectively manage his disease so Carter is thriving and hitting all of his developmental milestones. Although MSUD is a serious disease, we now feel our main health concerns are around Carter doing something crazy and breaking a bone, as opposed to anything MSUD-related. Carter never ceases to amaze us and every time we see happiness across his face we are thankful for newborn screening and all it has allowed, and will allow our little guy to do.

Raising Baby Caroline: Life With PKUNewborn screening saved these babies. How are they doing now? | www.APHLblog.org

Caroline will be four in February! Wow! Time goes by so fast and each day I am so thankful for her newborn screen. I cannot even imagine what our lives would be like if she didn’t have that test. This picture represents our Caroline. She is full of life. Full of energy. She loves to color, play Go Fish, loves her Daddy, she loves Princess Sofia, Minnie Mouse, and could stay outside for hours. We still have our struggles as she grows more independent and wonders why her diet is so different from others. If it weren’t for the newborn screen, we would have a completely different toddler on our hands. Caroline would have developed irreversible brain damage if we didn’t catch it and couldn’t treat her PKU. We are forever grateful! I wish I could go back and talk to that mom (me) you interviewed almost three-and-a-half years ago. I would tell her that everything is going to be OK. Your baby is going to grow up and be a smart toddler and she is going to teach you so many things about yourself. And it’s all because of that one heel prick.

Despite Galactosemia, Ella Grace is a Healthy Baby GirlNewborn screening saved these babies. How are they doing now? | www.APHLblog.org

Ella was born on June 6, 2012 with Classic Galactosemia. Despite being very sick those first weeks today she is a happy, healthy, smart, spunky 3 year old. She loves dance, soccer, school, and her big brothers!

When Mutation Counters Infection: From Sickle Cell to Ebola

 While pharmaceutical companies focus on drug discovery for Ebola virus disease, a powerful clue is coming from a rare “Jewish genetic disease” that destroys the brain. People with Niemann-Pick C1 disease can’t get Ebola, adding to the list of disease … Continue reading »

The post When Mutation Counters Infection: From Sickle Cell to Ebola appeared first on PLOS Blogs Network.

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

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