He doesn’t have Hemophilia! It was a lab error! And we truly feel like a miracle has happened, and although Adi is still sick as a dog right now, we both couldn’t be happier!
Let me tell you about the emotional roller coaster that has encompassed this first month of our son’s life…
Day 0 – He’s born, they draw his blood to check his Factor 8 levels because Adi has a deficiency; and although we don’t think it’s hereditary, we just don’t know.
Day 1 & 2 – The lab doesn’t run the test on weekends, we should find out tomorrow.
Day 3 – We get a phone call from the NICU that the results arrived, and unfortunately, yes he has Hemophilia. The test shows extremely low Factor 8 levels. We are devastated and wait for the pediatric hematologist to arrive.
Dr. Baca arrives, and we are immediately impressed by her knowledge, and her wonderful bedside manner. She’s sitting in Adi’s hospital room talking to us for a full hour, and immediately contacts the Director of Pediatric Urology, to help accommodate our planning for the bris. Dr. Freedman comes that very evening, and we are equally impressed by him.
Dr. Baca explains to us that the testing can only show that the levels are under 3%, but it is crucial to do follow-up chromogenic testing that takes a week, and requires a send-out to Quest Diagnostics. This will tell us his precise levels to the nearest decimal, which is highly relevant.
Day 6 – They draw the chromogenic test in the NICU and send us home, with the plan for him to be back for the bris in two days. Since it has to be done safely at the hospital, my brother Zak, a mohel, cannot fly in to perform the bris, since he does not have privileges at Cedars.
Day 8 – Bris is at the NICU, done beautifully with friend and chaplain Rabbi Weiner, my own mohel from 1979 Rabbi Lebovics, and each of our dads. Plus a bunch of very interested student nurses were allowed to observe and film it for us. Factor 8 infusion is given prophylactically just beforehand. He is named Liam Ross Hepner, and we pivot due to his diagnosis and his Hebrew name changes from Liam to Lev, meaning “heart”.
Day 10 – No bleeding problems, and a second Factor 8 infusion is given to play it safe before sending us home.
Day 15 – Dr. Baca calls us extremely apologetically, saying that the chromogenic test came back normal, 68% or so, which makes no sense at all, so they are going to run it again with the frozen sample the lab still has. Supposedly it should always have the same results, so it being old and frozen shouldn’t be relevant.
(Little to no optimism, but praying the frozen sample will be consistent, and provide a glimmer of hope).
Day 18 – The frozen sample returns and this time it’s about 30%. This continues to baffle everyone as it doesn’t match anything else. Let’s forget that sample, we all decide, and get a fresh one. This even further points to this chromogenic test being a screw-up so don’t get false hope. (Little to no optimism).
Day 19 – He gets redrawn. But Dr. Baca smartly adds on a PTT level, which is a clotting level that is affected by Factor 8. She calls us that day and tells us the PTT is normal, and she and her team are starting to wonder if the first test was the incorrect one. But not to get our hopes up yet. (Extremely cautious optimism).
Day 26 – The results of the second chromogenic test are in, and it’s…high. But it doesn’t match any of the other numbers, and they want to see another lab run the test. They send us to Children’s Hospital (CHLA), because Saint John’s also uses Quest. (Cautious optimism, but when I tell Adi the original diagnosis might have been in error, she doesn’t want to go there in her mind, and needs to mourn the diagnosis all over again. As I said, cautious optimism).
Day 27 – He gets redrawn at CHLA. It takes 3 attempts and 2 people, but it gets done.
At the same time, Dr. Baca’s team has done extensive research into the frozen sample giving different results, and good news, it turns out that Factor 8 samples DO degrade over time, so it actually makes more sense now that the frozen sample went down when they rechecked it. (Gaining optimism, but still very cautiously).
Day 34 – CHLA gives Cedars the results that Factor 7 is normal. WAITAMINUTE, they ordered Factor 8, not 7! “Actually, our Factor 8 machine is currently broken down, and we’re not sure when it will be fixed…but don’t worry, the sample is stable for a year so we can run it accurately anytime.” Hmm, that’s what we just finished determining by the frozen sample. It’s been a week, so just throw the test away, we’ll need ANOTHER new lab draw. (Same level of optimism, but increased frustration).
Day 35 – Dr. Baca’s office calls CHLA to throw out that week-old sample, but they interject, “We fixed the machine, and the results are 175%.” What?! Dr. Baca then explained that although we know the sample can degrade over time, that means the numbers should go DOWN, not up. So this is when she and her team finally feel confident that his initial diagnosis and test was wrong — a simple lab error!
They completely understand our need for one test, just one test to not go awry, and to match another test. They order a final Factor 8 test at Cedars to get the next day.
(We breathe a huge sigh of relief, and finally tell Adi’s parents and my mother, leaving out my father to avoid him from sending out a poem to his entire address book about this not yet fully resolved drama).
Day 36 – They warn us not to come in today, because their Factor 8 machine went down and is being fixed.
Day 37 (FRIDAY) – They call and confirm the machine is up and running. Everyone in the lab and the clinic is expecting us and knows the importance of getting this right. We arrive and everyone is lovely, and the nurse hand delivers the sample to the lab. She even emails us personally to tell us that it was dropped off safely and should result in 4 hours.
Day 37 3:08pm – We get a phone call from Dr. Baca, “I have some great news, are you and Adi sitting down?” Liam doesn’t have Hemophilia! He never did! It was an initial lab error; who knows how it happened, but it happened. And we feel like something just occurred that never happens in life, a true miracle, undoing something that could otherwise never be cured, just managed.
We feel like we were just given the gift of a do-over, and are immensely excited for this miracle.
