How Newborn Screening Saved My Son’s Life

One of the first tests my son had as a newborn was called a newborn screening test. This simple yet important blood sample is what started our journey with Pompe disease.

The disease was added to Pennsylvania’s newborn screening panel one year before Cayden was born. I find it so amazing that he was the first baby in the state to be diagnosed with infantile-onset Pompe disease via newborn screening. 

While our experience with this test is a bit different than others, I’m so thankful that it was performed. The first newborn screening test that the hospital completed for Cayden had some inconclusive results. The doctors didn’t think much of it. However, they kept questioning themselves because he wasn’t getting stronger in the neonatal intensive care unit even though he was born full-term. 

After about two weeks in the NICU, the doctors decided to look harder. They ordered an echocardiogram of his heart. Those results were shocking, as they showed that his heart was very thick. The plan was to wait two days and repeat the echocardiogram in hopes that his heart would look better. However, this was not the case.

The next echocardiogram showed that his heart was getting worse instead of better. The doctor that looked at the echocardiogram suggested two things. The first suggestion was that I had gestational diabetes and was left untreated for it.

There was no way this was true, though. I had to get tested for gestational diabetes twice during my pregnancy. This left us with the other suggestion that his heart was being severely affected by a rare genetic disease called infantile Pompe disease.

Doctors immediately ordered more tests and decided to perform another newborn screening test on him. Thankfully, the test is easy, as they just prick the child’s heel and place a few drops of blood onto the testing paper. Since he had reached a stable point, we were sent home and told to expect a phone call with the results. 

At 3 weeks old, Cayden comes home for the first time. (Photo by Keara Engle)

At home, I started noticing a few odd things. The first was that Cayden would sleep a lot. Newborns tend to sleep a lot in general, but I could hardly remember a time when he was awake!

Another thing I noticed was that he wouldn’t take much from a bottle. At almost a month old, he couldn’t even eat a full 2-ounce bottle before falling asleep. He also struggled to gain weight, which caused the doctors to question me because I was a teen mom. Although I fed him every 2-3 hours, he was hardly gaining weight.

The day before Cayden turned a month old, we received a call from his pediatrician that no parent ever wants to receive. I remember the nurse telling me to call the Children’s Hospital of Philadelphia ASAP because his newborn screening test results were indicating that he did have Pompe disease. 

I immediately called the hospital and scheduled him to be seen the next day. When we arrived at the appointment, I didn’t expect things to get as serious as they did. After spending all day completing different tests and getting bloodwork done, the doctors were able to confirm our worst fears. He was instantly rushed to the cardiac ICU, where we spent the next six weeks before he was finally stable enough to come home again.

At 10 weeks old, Cayden comes home a second time. (Photo by Keara Engle)

Early diagnosis and treatment are key. One study suggests that Pompe disease is actually more common than previously estimated. With the help of newborn screening, Pompe disease can now be diagnosed before symptoms start. This saves people from spending their time searching for answers that could take years to find. 

Sometimes I feel as if I was robbed of those first few months with my son because of everything that was going on. However, it was all for the better. If the doctors hadn’t worked so hard to figure out what was wrong with Cayden, who knows what could’ve happened. I am more than thankful for newborn screening and will always be grateful that it saved my son’s life during the time he needed it the most.

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Note: Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Pompe Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Pompe disease.