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.

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