8 Days of the Unknown - Our Experience with Newborn Screening Tests

The scariest phone call I have ever gotten came when Cody was just 3 days old. A doctor, specifically a specialist out of Oakland, was on the other end of the line and he called to let me know that Cody's newborn genetic screening (the one where they prick their foot and let it bleed into little circles on a paper in the hospital) came back with slightly elevated levels, which means he could have a life-threatening or very serious metabolic genetic disease. "More tests," the doctor said.
I sat on the other end and immediately started panicking. It was unbelievably surreal. My mom saw me crying and sent Tim in and he talked with the doctor. I don't remember what was said on the phone because emotionally I went to a very dark spot. I was hanging on to his words... the ups and downs of his phone call. They were slightly elevated? He could have a life-threatening disease? But don't worry until we get further testing done?
We immediately packed up Cody and drove to the nearest doctors office. I don't remember much about the drive. The fear was unreal - the unknown of everything started to boil inside me and Tim and I both cried as we tried to digest what was happening.
When we arrived to the doctor's office I was flustered and emotional as I talked to the nurse. We needed help getting a urine test for a newborn. She was so compassionate as she talked us through it. I had nothing - no medical record or documentation for Cody because he was so new, and she calmly looked it up and helped us. We had to call the doctor back because we needed to get some clarification about the test - so we went to the lab to do the blood work while she figured out getting the urine test set up for him.
I had tears as I talked to the gal at the lab and she was confused when she saw he was only 3 days old. I guess these things must not happen too often. We were called back quickly and I cried into Tim as I watched the two phlebotomists hold him down and gently take more blood samples from his arm. It was heartbreaking.
The hours after we got done with his tests are a blur. I was online looking everything up, which was only making it worse. The side effects of what these diseases entail - stroke in babies, coma, brain damage. I stared at this beautiful baby as I breastfed him and thought "how is this happening?"
The anxiety swept in furiously. The specialist said to look for signs of him vomiting, not eating enough, or sleeping too much. I started worrying about everything that is normal for new babies - wondering if the 4 hour stretch he went was too long. He is my 3rd kid and suddenly I felt like I had never done this before. Nothing was making me feel better. I was on some sort of an awful roller coaster. The only hope we had was that I found many people in forums online mentioning they had received "false positives" on these tests. After digging deeper, I saw some statistics that said 1 in 50 of these tests - across all of the genetic tests they do - come up with a true positive. But... what if we were that 1 of 50?
I remember sobbing a day after we got the phone call, I wasn't in a good place. The post-birth hormones were making things harder. I wanted to put Cody back in my belly and go back to the week before when he was safe and pretend this was all just a bad dream. I would give anything to have my normal back. I wanted my worries of things that don't actually matter to be our biggest worries. Man, life had been thrown into perspective. I prayed and begged that I would never take health for granted. I already don't, but, I swear - health, especially our babies health, is the most fragile thing.
We ended up having to call back the genetics department and talk to some genetics counselors to help us through the next couple of days. 3 days later, we got the call that the first blood test came back normal. Relief... but only temporary. We were still hanging on for dear life to the hope that this would all just be a false positive. The next day, Tim got an email saying a new lab result was ready for Cody. It said 0.0 - 0.3 was the normal range and Cody's was 0.4. We both froze with fear - we had no concept of what his methamylonic acid levels should be. So we called the doctor's cell number that he had given us and he was very confused that we had the results. He immediately calmed our fears - 0.4 is totally normal, he said. Kids with the disease he was looking for would have numbers in the hundreds. Relief, but again... only temporarily. Tim and I cried - his two blood tests were normal... now we just had the urine.
I started doing more research online. Why would the urine matter if the blood was normal? I couldn't find any clear answers. There isn't much information about these specific diseases. They're very rare, and we knew that, but I couldn't get clarity that made me feel confident he was okay. I needed that urine test to come back. Two weeks! That's how long they said we may have to wait. We buckled down and prepared for the possible wait - but life just wasn't continuing as normal. I was extremely anxious, unable to process or think about anything except this urine test.
8 days after that dreaded phone call, we got the news we were hoping and praying for. The genetics nurse called me and said "Cody had a normal urine test - your baby does not have a rare genetic metabolic disorder!" I buried my face in my hands and cried. I felt the weight of the world lift off of my chest. I was immediately exhausted - it was like I could relax for the first time in 8 days.
I am so grateful to the family and friends who are in our lives who kept us tucked away in their thoughts and prayers. Also, my parents, who were along for this turbulent ride with us and did everything in their power to help in anyway they could. Tim and I relied on each other and I am not sure how I could possibly express how scary this was for us.
I hesitated sharing about our experience, but I thought I would in case anyone ever goes through it in the future. Please reach out if you're struggling through it and would like some support. I had a hard time finding personal experiences with this, even online - where everything exists. I know it's rare to even get a "false positive", let alone an actual "positive" for these genetic tests. The one thing we have discussed is the reason for these tests. The stress, fear, and anxiety we went through was some of the most terrifying I have ever been through. I am not sure I will ever recover fully... I will always look at our kid's health in a different way. But what if our baby did have one of these diseases? We would be so grateful that a specialist was on our case, that he would have had care early to help with some of the preventable and scary medical issues that happen.
I am sad that some of the joy was stolen from the first precious 11 days of his life. The worry and fear changed me and rocked me deep down in my core. We all know how much we love our kids, but put their health in question - and it trumps everything else in our world.
These 'false positives' can happen if the tests are done too early (which his was done before the 24 hour mark), if theres an issue with the sample, or if the baby has an elevated level from the stress of birth or a deficiency in the mother. Sometimes, its just a fluke. We have wondered if we should get any more testing done to make sure he is okay - and we were reassured that these tests are strong and would indicate if anything was wrong. (We will still be checking in with our pediatrician to make sure there's nothing more we should be looking for). My hope for everyone who receives the scary call that something might be wrong because of the screening tests has the same outcome as us - a 'false positive'. The one thing that the doctor mentioned to us is that if he did have a positive, the support was there and we wouldn't be alone. It wasn't much comfort, but it was some in such a scary time. Our medical professionals are amazing.
It definitely put everything into perspective for us and gave us so much more than we ever thought possible to be thankful for this holiday season. Holding on tight to my babies and all of our family and friends. Definitely not taking any of our health for granted!