The journey to an alpha-1 antitrypsin deficiency (AATD) diagnosis for our newborn was riddled with anxiety and uncertainty.
On April 29, 2021, at 7:10 am our beautiful little boy Jasper was born. He was tiny. Weighing in at 5 lbs, 2 oz Jasper was almost half the size of his older siblings, Oscar and Ivy.
From the moment Jasper was placed on my chest, I knew something wasn’t right. I remember looking to my husband Shane and asking what was wrong with our boy. He had a small amount of vernix on his back but notably, he was just skin and bones and ever so dry.
During labor, my water did not break. There was no evidence of amniotic fluid. I do, however, recall feeling like I lost fluid on a few occasions during my last trimester.
Soon after Jasper was delivered, nurses and doctors began asking questions. Did either myself or Shane smoke? No. Did we take any illegal drugs? Absolutely not. Did I have any colds or flu-like symptoms during my pregnancy? Only one cold. Did I take pregnancy vitamins? Yes, even during preconception.
At first, doctors thought Jasper had fetal growth restriction (FGR) but this was not the case. My placenta was taken away for testing as Cytomegalovirus (CMV) was suspected. We would later find out that the results were negative and my placenta had been fine.
A few hours after delivery, Jasper was transferred to a special care nursery as his small body wasn’t regulating his body temperature. Jasper was born at 40+4 weeks but was in a humidicrib alongside premature babies.
We would stay in the hospital for a few days. Jasper’s only setback after day 3 was his jaundice. Jasper’s bilirubin levels were very high. After several heel prick tests, the last was still high but hadn’t peaked any higher and we were able to go home.
Once discharged, we had several nurses visit our home. Unlike many babies, Jasper left for home with a weight gain of 10 grams. The nurses were very happy with his breastfeeding journey. And on average we would see a weight gain of 150 grams per week.
Our only concerns were Jasper’s jaundice and stiffness. The nurses who visited would say it was breastfeeding jaundice and possible reflux for the stiffness. Our general practice provider at our 6-week appointment said the same thing.
Jasper and I continued feeding on-demand in hope that feeding would flush out the bilirubin. We would also provide Jasper with filtered sunlight.
At week 7, Jasper was asked to be seen by the pediatrician at the hospital where he was born. Because he was sent to a special care nursery, this was an opportunity to see how he was growing. The nurses at the hospital weighed and measured Jasper and we were asked to wait for the pediatrician.
It wasn’t long before Jasper’s name was called but by this time he had fallen asleep. I was told that Jasper’s weight was of concern and that he hadn’t caught up. Top-up feeds were initially recommended whether that be breast milk or formula.
When asked if I had any concerns, I mentioned Jasper’s jaundice. Once waking up, the doctor could see that Jasper’s eyes were quite yellow and his skin was of a dark appearance. I described Jasper’s stool and how they were a pale green color. I also mentioned that he didn’t like to be curled up; he was always stiff.
The pediatrician spent time examining Jasper’s abdomen and had asked if it always looked bloated. Indeed, Jasper always had a little potbelly.
After further examination and the second feel of Jasper’s abdomen, I was asked to take Jasper to pathology straight away to have a blood test. I could see on the form that there were lots of tests being requested.
A half-hour after the blood test, I received a phone call. It was the pediatrician asking if I was driving. I had parked the car but I instantly knew something was wrong. The pediatrician said he suspected either an immature liver or an abnormal liver. In Jasper’s case, it was an abnormal liver that was failing, and that he would need to be admitted to the children’s hospital the following day.
I wouldn’t say this until our next visit but I was so grateful to this pediatrician who listened to my concerns and started our journey to diagnose our son.
The day had come and we checked in at the children’s hospital. Jasper was weighed, more blood was taken and an excrement gallery was set up. We were to take a sample over the course of our stay. By day 2, Jasper’s excrements were very pale. Almost white.
On day 2 we met the gastroenterology team. They were lovely but I won’t lie, it was a little overwhelming having so many specialist people surrounding my baby’s cot and not knowing what was wrong with him.
I was asked lots of questions. Lots of notes were being taken and I too had questions.
I was asked if I would give permission to have a few undergraduates also visit Jasper during his stay. It was their final exam to pass as pediatricians. I was allowed to answer questions but I wasn’t to give too much information out. It was their task to diagnose Jasper. Unfortunately, no one had correctly diagnosed him. They all predicted breastfeeding jaundice.
Jasper underwent many more blood tests. I was told something serious was wrong and the gastroenterology team came back with 2 possible problems. Biliary disease was their main suspected disorder. I was told if this was the case, a new main bile duct would need to be created using the top of the bowel. Another possible disorder was Alagille syndrome, and for this Jasper had his eyes tested by an ophthalmologist, an ultrasound, and an X-ray. I was told this condition, which was unlikely, generally meant that babies are born with a distinctive face, poor vision, ill effects on blood vessels to the heart, spinal cord, and kidneys, and also resulted in few bile ducts in the liver to drain bile.
The X-ray came back negative to this disorder and our boy had passed his eye test.
Jasper was then sent to have an emergency ultrasound. The ultrasound showed that Jasper had a gallbladder, a pancreas, and bile ducts. This was good news.
The next team of specialists to visit Jasper was the metabolic team. I was asked to give a detailed family history, both paternal and maternal. We started talking about my side of the family and then my husband’s side of the family. I mentioned that Shane’s father had passed away almost 25 years ago. I went on to say he had a disorder, in my words, as I wasn’t overly familiar or educated in it was, “alpha something…?”
Shane’s father had a lung condition and he required a lung transplant. He was one of the first to fly to Sydney to have a lung transplant. It was successful for a few years but with a suppressed immune system, it would be the common cold that would take his life.
My husband and I didn’t know too much about his condition but always thought it was solely a lung condition. Shane’s Dad was a smoker in his early years and was a mechanic who worked with different fuels and leads.
Shane’s Dad was diagnosed with alpha-1 when he was in his 50s and, not knowing about his underlying condition, he was unaware that all these environmental factors were causing havoc to his body.
That being said, I went back to my parent room that night and I Google searched AATD. The moment I saw the word liver I was scared. My stomach dropped and I called my husband. I remember saying, “I think I know what is wrong with Jasper. It’s not confirmed as I have just been reading up on the Internet, but I think Jasper has the same condition that your Dad had.
I was in tears but Shane went on to reassure me that Jasper is in the best place, with the best team, and to stop reading into things until we get confirmed results. Following the metabolic team’s work, the gastroenterology team ordered a liver biopsy and a HIDA scan. Watching my baby have a cannula put in was truly heartbreaking but it was in his best interest.
The gastroenterology team wanted to start Jasper on a drug called ursodeoxycholic acid to see if this would help clear out the blocked bile. We saw results almost immediately. Jasper’s stool started to gain color. Jasper was also prescribed some vitamin K.
The gastro team then delivered the news. Jasper tested positive for alpha-1. The team went on to say that there are different phenotypes and within each of these comes different severities. I was overwhelmed. My brain was trying to take everything in and my heart was starting to feel heavy.
Not only did Jasper test positive for alpha-1 he was the ZZ phenotype and he was severe. Our world felt like it had been tipped upside down.
Not realizing at the time, my husband and I would soon learn that we each gave Jasper a Z copy. This ultimately meant that Shane and I were carriers to some degree.
The team had left and I broke down. I didn’t know what to think. All I could think was that my beautiful little boy had a liver disease that I knew nothing about.
Following the results, the pharmacist visited us and went through Jasper’s new regime of lifelong medications and vitamins. Ursodeoxycholic acid is required twice a day, along with vitamin K once a day and vitamins A, D, and E once daily. We were also handed pathology forms for the rest of our family to have genetic testing.
We are hopeful that Jasper has a good prognosis. He is young. He was diagnosed early. He is responding to medication and there is time for research and science in his lifetime.