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!

Cody's Birth Story

Cody. . .

The story of how you found your way to our arms may be a little different than your brother and sister's... but with out a doubt, baby, we have always known deep down that we would not be complete with out you in our lives. We would jump through any hoop to have you and you are worth every single tear and hurdle - if anything, it's become more amazing to hold you in our arms knowing it would all be worth it.

After having your brother, I knew I wasn't done having babies. Daddy and I both were overwhelmed by the love for our family and the thought of being all done just wasn't an option for us. A little before your brother was a year old, we decided to start trying to conceive you. After months and months of unsuccessful attempts, we knew we were going to need some help. We opted for a procedure called an IUI with chlomid and had 3 unsuccessful cycles. The doctor mentioned it probably wouldn't be effective for us to do another round. A short conversation between your dad and I later, I called up the IVF line with Kaiser and made an appointment. From that moment... I knew deep down that you and I were going to meet someday.

I was quite terrified of the process, but nothing scared me more than not being able to have you as a part of our family. It was a lot of shots, procedures, worry, and tears - just to be told at your first ultrasound I may have had a miscarriage. But 5 days later, we confirmed again with our doctor and you were indeed sticking around to join our clan.

The first few months were a little bumpy with morning sickness and the 12 weeks of IM shots every day, but I kept my eye on November and knew it would all pass. I had a great pregnancy from about 16 weeks on, you measured big and healthy and I felt great. Braxton hicks and the normal aches and pains crept in here and there, but overall, I was mostly just excited to meet you. I loved being pregnant with you and feeling your movement and nightly hiccups. 

The last few weeks before you were born are a little bit of a blur as we prepared to move into our new home. The construction was not finished on our new place like we were told it would be, so we were in a bit of a shuffle - moving our items into the incomplete new home and going to live with Gramz & Pops. They graciously hosted us and gave us everything we could ever need. Gramz prepared most for your arrival. She made sure we had everything imaginable, including a packed hospital bag, diapers, clothes, and all of the necessities. I am not sure how we would have gotten through the first 2 weeks of your life with out Gramz & Pops. We are so lucky to have them in our lives and I know you will love them just like I do.

When I went in for my 36 week appointment, I was already almost 3 cm dilated and 70% effaced. Everyone was telling me to take it easy so you would stay put, and I did a pretty good job of it - despite the move and trying to get things moved into our new place. I saw Dr. Harrison again for my 37 week check up and I had progressed only slightly. 

I remember the crisp & colorful fall day on Friday, November 10th. Your sissy and I took a walk around the Gramz & Pop's neighborhood and I repeatedly rubbed my belly. I think I had a little bit of an intuition that you were going to make your arrival soon.

At 2AM that morning, I woke up with your sister and laid with her for a minute to get her back to sleep. A few minutes after laying in bed, I had a painful contraction. I paid close attention to the timing and felt several more of them in the next hour, so I reached over and woke up your daddy. I said "babe, I am in labor!" He jumped awake and we immediately started getting ready to leave. I woke up Gramz & Pops and let them know we were headed out to the hospital.

Daddy drove very carefully and talked about how excited he was to meet you. I had lots of contractions on the way to the hospital (it was a 45 minute drive). We made it to Kaiser at about 4:15 and I got out of daddy's truck and waddled in to triage. They checked me and I was only about 3.5 cm dilated and about 75% effaced. I started wondering if I wasn't in labor, but man, those contractions were painful. A midwife came in about an hour later and I had progressed to 5cm and about 90% effaced. There was no going back, you were coming soon!

At about 5:45am we were admitted to room 222. We had called Dr. Harrison on her cell phone to update her (she was determined to deliver you, which was such a joy for us). I decided to get an epidural and was relieved when I got it at about 7am. Dr. Harrison called me and asked if they could break my water since I had the epidural and I agreed! Our good friends Shelley & Curt came to Gramz & Pop's house so they could come to the hospital and your aunties made their way as well. 

At about 8:10am, I started pushing and Dr. Harrison told me you were posterior. It took a few extra pushes, but you came out screaming and hungry at 8:17am. It was absolutely one of the happiest moments of my life. Everyone in the room was crying and I was overwhelmed. As you came out, Dr. Harrison had me reach down and grab you. I saw you and immediately started reliving the year leading up to your birth. It was like all of the hope and joy of your arrival hit me all at once. I am just so happy to have you in our lives. You are our baby and you are loved so much by so many.

Shortly after you were born, about 4 hours later, Gramz & Pops returned to the hospital with your big sister and brother. Cody, they were so excited and happy to meet you. They loved feeling my belly when you were in it and seeing them meet you for the first time filled me with so much love. They wanted to see your hair, kiss your hands, and cuddle you. Seeing you 3 together was incredible. I am such a lucky mommy.

You are a great eater and came out into the world screaming and ready for your first meal. We have been so lucky with breastfeeding because you latched right on and so far, we haven't had any issues. 

The first week of your life was very hard for us - even with us being so happy to have you home. The scariest phone call I have ever received came from a specialist in Oakland telling me that some of the blood work from your newborn genetic screening test had come back slightly elevated. Daddy and I both cried as we listened to this doctor tell us you may have a rare metabolic disease. We immediately had to go into the doctor and get more blood tests and a urine test for you. It was absolutely awful seeing you go through that at 3 days old. We waited anxiously, with lots of tears, fears and sleepless nights until we got the first 2 blood tests back about 3 days later. On the day before Thanksgiving, when you were just 11 days old, we went with family for our traditional tree hunt day and on the way home received the call that your urine test came back normal. It was the most relieved I have ever felt, Cody. Daddy and I cried again - feeling forever grateful. It threw everything into perspective for us. I can cry thinking about those nights when I wasn't sure if you were okay - I would just stare at you. I was numb and not sure how you could be anything but perfect.

Besides the fears of the tests, we relished in you. Your amazing newborn smell, your tiny noises, hands and feet, and cuddles. Your big sister and brother want to hold you every chance they get. They really love you, too! Living with Gramz & Pops waiting for our new house to get finished also meant that Pops gave you your first bath and they got to enjoy you in your tiny first few weeks. It's so precious and I am so crazy about you. You are a beautiful baby, Cody.

I am so proud to be your mommy. I love staring at you and wish so badly that I could freeze time and keep you little forever. My hope for you is that you always know how much we love and cherish you. I am so blessed for every day with you and will never take for granted how lucky our family is to have you. 

I love you more than words will ever be able to express. I am always here for you. Forever and ever!

Love,

Mama

Big Brother, Nolan

Big Brother Nolan,

I had to take a few minutes to write down some notes about how proud of you I have been in the last months. You, my sweet child, have taken on this 'big brother' role with such stride. I will never forget rocking you before bed and you telling me that you wanted to sing to baby... 'twinkle, twinkle little star...'. You may not have known every word, but it melted me every time I heard you sing it.

Randomly, through out the day, you would come up to my belly and kiss it and say 'I love you, baby'. I love the way you annunciate "baby" - "bay-BE!".

The day you met your little brother for the first time, just hours after he arrived, you bounced right into that hospital room with nothing but excitement. Before you went to him, you came to me first, grabbed my hand, and kissed the top of it. Your way of saying hello to me - told me you missed me and loved me.

Then you came and sat next to him and I on the hospital bed and kissed the top of his head and sweetly gave him kisses and hugs. Not forced or disingenuous, but with such love.

I have watched you grow up so much in these last few months - right before my eyes you're turning into a smart, vibrant little boy who loves tractors and tools with all your might. You also deeply love your family and the people around you. You're becoming very independent and don't always need a companion to play and you're not interested in following the crowd of kids. You're happy and content. You especially love your grams & pops and we have been lucky to spend so much time with them this last month. What amazing memories I will always have of seeing your relationship with them grow.

Nolan, you're amazing. You may have a fire & temper, but you are undeniably one of the sweetest little boys I know. Thank you for loving me back, unconditionally, and forgiving me for my moments of impatience and mistakes. For letting me snuggle you and always being willing to snuggle and hug me - with out being asked. You have such an amazing spirit, son, and you may not even be 3 years old yet... but I am so dang proud to be your mommy.

I love you forever & ever. And I wish I could keep you little - this darling age you are right this minute, but then I would never get to see the amazing man I know you're going to grow up to be.

Love,
Your mommy