Understanding the Importance of One Drop of Blood
In February 2012, my husband and I welcomed Drew, our second beautiful baby boy into the world at Tripler Army Medical Center in Honolulu, Hawaii. After another challenging pregnancy with horrible morning sickness and kidney stones at almost 20 weeks I was delighted that Drew decided to come a week before his due date…instead of a week late like his brother. The delivery went well and 24 hours later we were sent on our way ready to tackle the challenge of two boys under 3 and a puppy in the house!
One week after Drew was born I received a phone call from a nurse at the hospital. First she asked how Drew was, and then told me that there was a saturation problem with Drew's newborn screening card so the lab couldn't use any of the blood samples. She asked if I would I be willing to come back to the hospital to get it redone. I said of course, packed Drew up and zipped up to the hospital.
The very next day was the Friday of Presidents weekend, and my parents had just flown in from California to visit their new grandson. We were all sitting around talking when I received a phone call late in the afternoon. It was the same nurse from the day before, but this time when she asked "How's Drew?" I knew immediately that something was wrong. Seeing the reaction on my face, and hearing only one side of the conversation, my husband instinctively took Drew from my dad, got him in his car seat and packed up the diaper bag. We were told that we needed to bring Drew immediately to the hospital. Honestly, I don't remember much of what was said during that phone conversation, just that something was wrong, and that we needed to bring Drew to the hospital at 5:30 pm on a Friday.
We walked into a completely empty hospital and made our way up to the 7th floor, barely talking to each other. When we walked into the office, we met the nurse that I had talked to on the phone. We found out she was the Newborn Screening Coordinator and a Metabolic Nurse (thankfully for us!). She then introduced us to the physician in charge of the Exceptional Family Member Department.
They sat us down and started to explain why we were there. This is how I remember the conversation: "Remember that first newborn screening sample that the lab in Oregon said they couldn't analyze? Well for some reason after telling us the samples were not viable, they were able to get a tiny bit of viable blood. They decided to use that tiny sample to run just one of the 20 screening tests that are part of newborn screening in Hawaii because they considered this test to be the most important. Well wouldn't you know, the test came back at 14 times the normal level, and the lab believes that your baby has a rare metabolic condition called Very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD). However, since they originally claimed the sample was not viable, we need to wait until the second newborn screening card that we sent out yesterday is analyzed before we can be sure. Because of the severe consequences associated with this condition if it is not managed, we also cannot rule out that he has it."
Then they told us how rare VLCAD is, as it is a double recessive genetic condition. They described the progression of the condition should he go into metabolic crisis, and a lot of other information that went in one ear and out the other at that time. After about 30 minutes of getting a primer on VLCAD and metabolic conditions, they took a break and asked if we had any questions so far. Shell shocked, I was trying to recall all of the information from my Biology and Chemistry classes to help process all of the information we just received. My husband on the other hand, being the military man he is got right to the point. His exact words as I remember them were "so assuming this 14 times normal result is correct, you are telling me my baby should be dead." The room went silent for a heartbeat, and then the Metabolic Nurse said "I'm not one to pull any punches and as harsh as this might sound, I want you to understand why we are so concerned. In my 23 years as a Metabolic Nurse, there have only been two times I have received results like this, and by the time I contacted each of the families, the babies had already passed away…"
The conversation then turned to where do we go from here? Since it was a holiday weekend, the earliest we would hear back from Oregon would be Tuesday afternoon, and that was assuming they had already received the second newborn screening card in the mail, or would receive it first thing Tuesday morning and run the test STAT. We were seriously irritated that we were dependent on the USPS for such an important thing, and couldn't believe that as worried as the lab in Oregon was, no one was coming in on a holiday weekend to test the sample! We told everyone that we would pay for someone to come in just to run the sample, we didn't care how much it would cost, but were told things didn't work that way.
Considering how great Drew looked in their physical evaluation, they told us that there were two options. They were not going to force us to be admitted to the hospital if we didn't want to be. They would give us all of the signs and symptoms to look for, and if anything started to go wrong we were to bring Drew immediately to the ER. Or we could be admitted to the Pediatrics Ward for observation until everything was sorted out. I asked them, "So you're telling me I have this ticking time bomb of a child that can take a turn for the worse at any minute and die, and I would have to deal with the ER on a holiday weekend? No thanks, we will stay here."
So Drew and I hunkered down for the long weekend. We quickly learned that getting an IV in and drawing blood from Drew is very difficult. It took 4 tries to get his IV in that first night, and after numerous attempts at drawing blood from various veins in his arms, hands and feet, they finally sent us for an artery stick. Even that took 2 tries and 45 minutes from the NICU attending physician. I would later realize that this was all invaluable practice for me so I knew what to expect when he is admitted when he is sick. We now know to tell the nurses to not even bother trying to get the IV in his arms or feet, but go directly for the scalp. The goes for the blood draws. The most traumatic thing for me so far was seeing my baby get blood drawn from his jugular vein because they couldn't get it from anywhere else.
Tuesday rolled around, and no word from the lab in Oregon. We finally received the results on Wednesday, and to everyone’s surprise and relief, his second newborn screening came back as "high normal". We were thrilled, the doctors and nurses were hugging us and we were all so happy that it was over. The Metabolic Nurse, however, told us that we should only be "cautiously optimistic." We all looked at her like she was crazy and trying to ruin our good news. She explained that these were just screening tests and that we should wait to celebrate until we received the results of the diagnostic tests that we sent out to Duke University. Some thought she was being a bit harsh, but I took her words seriously. She had been great for the 6 days we were in-patient, and over that time I had learned to trust her completely. We were discharged, but still on the condition that we feed him every 3.5 hours around the clock until we receive the results from Duke University. Well it didn't take long. Less than 24 hours after we were discharged, we got the call that the Duke results were in, and they were so sorry, but he does have VLCAD.
At that point I just lost it. I was so tired after not getting any sleep for the last 6 days, and realizing that I had this baby that could die any day, any time for no real reason; it just seemed so overwhelming and unfair. But after my little pity party, I threw myself into the thick of it. I found out as much as I could about VLCAD, how to be the best advocate I could for his care, and started working with our Metabolic Team asking any question I could to become as informed as I could about him and how to care for him.
In the past year, Drew (and I) has been hospitalized 5 times. The shortest stay was 36 hours, and the longest so far has been 8 long days. I have walked a fine line each day evaluating every "normal kid symptom," runny nose, cough, spit up, fever, throw up etc, playing the "should we go or not to the ER" game. It is an overwhelming responsibility to have to constantly try not to over or under react when your child's life is at stake. It has gotten much easier in some ways than those first 6 days. I have an entirely new vocabulary and frequently get asked if I am a medical professional (I am not, but I do have a Masters Degree in Public Policy so I know how to do research and find the latest journal articles).
Thankfully I tell people Drew is "normal" 95% of the time, and is growing and achieving all of his developmental milestones appropriately…it's the other 5% that is really scary. It has been a challenge to explain to family members and friends why Drew is "special" because they all see him as "so normal." I just have to make sure that they realize that while he may look and act normal, inside he really is not, but as long as we all stay vigilant, he should be able to live a fairly normal life.
Before Drew, I didn't understand just how important and valuable Newborn Screening is. All I really knew is that they tested babies, and I read the brochure they gave me. After both of my boys were tested in the hospital I never really thought about it again. I also learned that newborn screening is just that, a screening, and in Drew's case, needed to be followed up with diagnostic testing. I cannot believe how fortunate we were to get that original sample tested. If Oregon wouldn't have tested that first sample at all, we would only have had the second "high normal" result. We would never have done diagnostic and genetic testing and would not have known he had the condition. Should Drew have been undiagnosed when he had his first unexplained episode at 5 months it could have been disastrous if we were required to wait for hours in the ER before being seen. Instead, we paged our Metabolic Team on our way to the ER and they walked us right into a treatment room and got his IV started immediately before they started running tests.
I am thankful every day for that one little drop of blood. Even though our lives are now filled with medications, glucose monitoring and lots of doctor appointments, our little boy is alive and well thanks to Newborn Screening and a wonderful hospital with the most amazing staff.