Are you ready to start a family? Or are you considering adding another child to your nest?
If so, the March of Dimes shares some insight on what moms or moms-to-be need to know.
All babies in the United States get newborn screening. However, each state decides which tests are required. So, it’s important to know what tests are required in your state, and what tests you might want to ask for.
Generally, a newborn screening consists of three parts:
- A heel stick to collect a small blood sample
- A pulse oximetry to look at the amount of oxygen in the baby’s blood
- A hearing screen
Newborn screening helps identify rare but serious health conditions. Many of these can be treated if found early.
March of Dimes chapters across the country will be advocating for the addition of Pompe disease to newborn screening panels to ensure that all newborns can benefit from this potentially life-saving test.
What is Pompe disease?
Pompe disease is one of a family of 49 rare genetic disorders known as lysosomal storage disease (LSD).
Pompe disease is also known as acid maltase deficiency or glycogen storage disease type II.
Infants affected by Pompe show symptoms soon after birth, and the disease progresses rapidly.
What are the signs and symptoms?
- Muscle weakness or a “floppy” appearance
- Poor muscle tome
- Enlarged heart (usually detected by X-ray)
- Breathing problems and lung infections
- Feeding problems and failure to grow at the expected rate (failure to thrive)
Why is early detection helpful for Pompe?
Accurate diagnosis and treatment are important for people with Pompe because the disease is always progressive.
Recognizing Pompe disease can be challenging, as its signs and symptoms are similar to those of other diseases and disorders.
Early diagnosis is critical to optimizing disease management outcomes; however, the challenge of recognizing Pompe disease may result in delayed diagnosis.
This is why the March of Dimes advocacy campaign is so important:
“Early detection for Pompe disease through newborn screening will allow affected infants to receive prompt life-saving medical interventions.”
Fist Pump
I’m thinking to argue is a moot point.
If all it takes is a simple blood test for a doctor to tell whether newborns have certain conditions that eventually could cause problems, then go ahead and test my child.
Some conditions are considered rare and although most babies are given a clean bill of health, early diagnosis and proper treatment can make a difference between lifelong impairment and heathy development.
Kudos to the March of Dimes for helping parents be the best advocates possible for their child!!
