Newborn screening came back positive

Her first newborn screening came back positive for FOAD (fatty acid oxidation disorders). A few days later, we had our first doctor’s appointment. During that visit, the doctor explained that this screening can have up to 80% false positives, so he recommended repeating the test. We agreed to repeat the screening. He also suggested additional testing, including blood work and a urine test, to gather more information, and he referred us for genetic testing.

We completed the blood and urine tests and asked the doctor if we could wait for the repeat screening results before moving forward with genetic testing. He agreed.

A few days later, the repeat screening results came back negative, indicating that she does not have FOAD. However, the doctor then stated that she may be a carrier for MCAD (medium-chain acyl-CoA dehydrogenase deficiency) and still recommended genetic testing.

I asked what treatment would be necessary if she were only a carrier. The doctor explained that no treatment would be needed, because having one functioning copy of the gene allows her body to process medium-chain fatty acids. He also noted that the only recommended precaution would be feeding her every two to three hours, which we were already doing.

Importantly, she has shown no symptoms associated with MCAD, such as poor weight gain, lethargy, or difficulty waking for feeds.

Given that she is a newborn, and based on my cultural belief of not taking babies out for the first 40 days, I expressed that I wanted to wait on genetic testing especially since both the repeat screening and blood tests were negative.

At that point, the doctor became very aggressive and told me that he would report us to Child Protective Services if we did not proceed with genetic testing. I was shocked and frightened. As a new mother already experiencing significant postpartum anxiety, hearing this was extremely distressing.

Ultimately, I agreed to have the genetic testing scheduled, but the experience left me feeling disempowered and unsafe in my relationship with this doctor.