Anna Violet's journey to a peroxisomal disorder diagnosis | GFPD 2020 Patient Ambassador

February 16, 2020

 

 

Our family’s journey to receiving Anna Violet’s diagnosis took approximately three months, but time moves a lot slower in the NICU than it does in the real world.  After a traumatic emergency c-section, it took forever for us to finally be able to hold her for the first time. She was born at 37 weeks and was so tiny and frail.

 

During the night, Anna Violet struggled to maintain her temperature, so she was sent to the NICU where they could help keep her warm. We were told this was common for a baby her size so we really were not very worried. In the NICU, after getting scrubbed and dressed, the nurse walked me to where Anna Violet was in an incubator. The nurses showed me how to open the sides so that I could put my hand in and touch her. 

 

In the picture of Jennifer holding her for the first time, you could see how frail and small Anna Violet was but she seemed to sense that her mommy was there and relaxed in her arms. This admission to the NICU was just a precursor to what was to come and the first of many issues that would arise before we would get Anna Violet’s diagnosis.  

 

A few mornings later, upon arrival to the NICU, we saw a strange tube up her nose, and she was wearing little foam sunglasses under a phototherapy light. During the night, the decision was made to put a nasal-gastric (NG) tube in Anna Violet’s nose because she was having trouble feeding and becoming jaundiced.  Neither of us had ever seen this before and we wanted to know what had gone wrong. The charge nurse came over and she explained that the NG tube was for nutrition because she was not eating enough on her own.  She ensured us that it was only temporary and that the extra nutrition would help make her stronger faster. The phototherapy light was because she was jaundiced, which of course is also very common so the nurse assured us there was nothing really to worry about there. 

 

The charge nurse did say that the doctor would be making morning rounds soon and there was something they wanted to talk to us about. That concerned me, what did this nurse know that she wasn’t telling us? 

 

After what seemed like an eternity, the doctors finally made their morning rounds. They told us that they were concerned that her stomach was distended and that they were going to order an ultrasound on her abdomen and liver since she had become jaundiced. Everyone was trying to calm us, to reassure us that this was not uncommon for babies in the NICU and that everything would be just fine. We both pretended like we knew they were right and that all of this would work itself out. But deep down, both of us knew that something wasn’t right. We finally received word that her liver was enlarged  and they were going to run even more tests to try to find out why.  

 

That next morning, the doctors pulled us off to the side and said, in a very matter of fact tone, that an anomaly was found on her Newborn Screening tests and that they would need to retest her.  Jennifer asked what they meant by an “anomaly.”

 

One of the doctors very bluntly said that she thought it was Zellweger Syndrome, a rare recessive disease. None of that meant anything to us, we had never heard of Zellweger Syndrome before. 

 

I asked what it was and all the doctor told us was that it was a peroxisomal disorder that affected the entire body and that the patients had extremely short lifespans. They would know more when the results from the retesting came back. The doctors then turned around and walked to the next patient without another word. 

 

Jennifer started crying and a nurse walked over and put her arm around her. She kept telling Jennifer that nothing was written in stone yet, that the results could have been a false positive and that we need to wait and see. As much as I appreciated what this nurse was saying, I was still in absolute shock. I was angry at the doctor for the way the news was delivered, I was scared for my daughter, I was scared for my wife, I was literally in a hurricane of emotions and couldn’t even move.  

 

So I went outside to get some fresh air and started to google what Zellweger Syndrome was…..huge mistake.  At the time, I was not aware that everything I was reading was completely out of date or just plain wrong. All it did was talk about how these babies only live a few months and how horrible the symptoms were.  That there was no treatment, no cure. I almost passed out reading this inaccurate information but, I knew I had to get it together. I went back upstairs to Jennifer’s room and told her as confidently as possible NOT to google it and we needed to be sure of what we were dealing with. Then we waited.  

 

While we waited on the second test, Jennifer was discharged from the hospital.  We were able to go home, but not with our baby. It was so strange to come home to a nursery that we had worked on for months for it to still be empty.  For the next two weeks, our days consisted of Jennifer going to the NICU, me going to work and then as soon as work was over me heading to the NICU to be with Anna Violet.  We would come home at night around 11:30 just to collapse into bed and do it all over again the next day.  

 

Finally, around two weeks later the doctors wanted to speak to us and had brought in a geneticist from Vanderbilt. This was very scary, and yet, I had never wanted to talk to someone so badly. The doctors explained to us that the confirmatory testing had come back and it had confirmed the same anomaly.  The doctors in the NICU were sure it was Zellweger Syndrome, but the only way to confirm this was another blood test that would need to be sent to Baylor University in Texas for analysis and confirm exactly which genes were affected.

 

It would take about 28 days to get the results, so, we waited. Anna Violet was doing well but still was not thriving and the doctors then began to talk to us about a gastrostomy tube (g-tube). At this point, we were not sure if this was related to her disorder or if it was just because she was so tiny.  We talked about it and decided that we would do anything we could to help her grow and thrive so we were on board with a g-tube. The surgery was scheduled and Anna Violet came through it like a champ and showed us what a true warrior she really is.

 

The recovery week in the NICU gave her time to heal and gave us time to be trained on how to use the g-tube. Anna Violet was putting on weight, was more active and sassier than she had ever been! At last, she was ready to go home.

 

That morning, all the nurses who had cared for and fallen in love with Anna Violet came to say good bye!  We packed up and while I left to go bring the car around, one of the doctors came by to see Jennifer with Anna Violet’s results from Baylor.  

 

The doctor came in and handed a piece of paper to Jennifer. She said, “Anna Violet has a mutation on exon 13 and 15 on PEX1 and she does have Zellweger Syndrome.” Jennifer stood there in complete shock and started firing questions at the doctor, “What did this mean? What do we do? Where do we go? Is she going to die tomorrow? Do we need to start making arrangements?”  The doctor looked Jennifer straight in the eye and said, “Take her home and love her.”

That was supposed to be the best day ever; we were taking our sweet, precious baby home after 52 days in NICU. We were packed. Anna Violet was in her car seat and yet we could not help but let the tears fall. It seemed as though this was the beginning of the end.

 

When we finally arrived home and took the obligatory family pics with the new baby on our first day home, it seemed that everything might be all right.  We were able to feed her, change her tiny little diaper and put her down for a nap. Our family was finally whole. 

 

Jennifer and I talked a lot that night. We decided that we were going to give Anna Violet the best life possible.  We had to find out more about this disorder and do our research on our own. And that hit me hard. We were alone. There was no specialist that we could be referred too. There was no special clinic for other babies like ours.  As far as we knew, this was so rare we would probably never meet another “Zellweger baby”. However, one thing was sure: we were not going to give up. We knew that we would help our little warrior fight. Above all else, we knew that little Anna Violet would