Audrey's Story

9 Months of waiting. Actually, 39 weeks and 4 days of pregnancy to be exact when we finally met this sweet pea. She was 6 pounds 1 ounce of perfection. We dreamed of her for so long and she was finally ours. We were so excited to start our lives as a family of 3. Everything was going so well. She ate like a champ, was a fantastic sleeper and a very happy and easygoing baby.

Around 6 weeks old we started noticing something. Her eyes 'fluttered' and she didn't seem to want to study our faces which is what all of the baby books said she should be doing about that time. Tracking? Not so much. As first time parents we didn't know what to expect. You read about the milestones they should be achieving, but immediately following is the disclaimer that every child is different and they can meet these milestones earlier or later. But just like the motherly instinct that told me I was pregnant before I even took a test, it was once again speaking to me and telling me that something just wasn't quite right. I snapped a video of her doing the eye flutters and sent it off to the pediatrician. We were told we needed to come in later that day and my stomach dropped.

We met with our pediatrician who ran a few things it could be past us. She wanted first and foremost to rule out that it wasn't seizures that our sweet girl was having so we scheduled the recommended EEG. Audrey was tightly swaddled and secured to a stiff board to help hold her still. One by one, electrodes were placed on her head until it was covered and secured with gauze. Multi-colored wires that looked like rainbow hair draped to a machine. Will and I sat in the dark room with her, watching the brain waves of our daughter's sleep appear on the screen in front of us. It looked normal to us, but we had no idea what we were looking at. After being monitored for an hour, we left for home... to wait... on pins and needles until the news came back on Christmas Eve. She was seizure free--everything was fine. Best Christmas gift ever.

But tears of relief were quickly replaced by tears of fear. If not seizures, then what are we dealing with? We were referred to a pediatric neurologist who ordered an MRI. He wanted to make sure that it wasn't a tumor in her brain causing pressure to make her eyes flutter the way they were. A tumor? My heart sank. And while we were nervous about putting our baby under sedation, we knew that we had to have results in case there was in fact a tumor in her brain.

We arrived at Blank Children's Hospital early that morning. Ankle tag was placed, registration was all taken care of and we were escorted down to the MRI department to await sedation. In-and-out is what we had been set up for and were expecting only being at Blank in the morning and to give all the snuggles back at home later that day. Boy could we be any more wrong. After waiting for about a half hour to be taken back a nurse came out and told us that our appointment had been cancelled. "Did someone call and tell you that?" Uh...NO. Otherwise we wouldn't be here. They gave us two options : either wait until she was old enough to do the sedation, or come back later that day to outpatient surgery and have Audrey put under general anesthesia for the test. I'll be the first two admit this was not the easiest decision we've ever made in our life, but ultimately we had to know if there was a tumor as early intervention would be absolutely necessary so we decided to come back later that day.

Once again we checked in and were taken back to pre-op waiting. We changed Audrey into her sweet little hospital gown and patiently, nervously waited. The nurse came in and did her vitals. "So, is she staying tonight?" Um, excuse me? No one had mentioned this would require a hospital stay. We weren't packed for a hospital stay. Apparently Audrey was at the edge of the age and weight where she could either come out of anesthesia just fine or she could have apnea and stop breathing in her sleep. We knew we would be on edge if we brought her home, worrying she'd stop breathing so we opted to stay the night. It was the safest place for her to be should something go wrong. The hardest moment I had as a mother at that point, was handing over my baby to the nurse who took her back for the test.

I lost it. 15-20 minutes is what they told us it would be until we would be reunited with our daughter once again. 40-45 minutes is what it actually was. "If she sounds a little hoarse, it's because her throat may be irritated from the breathing tube we had to place." WHAT?! Again, no one had told us about a breathing tube. By this point Will and I are more than exhausted from a day full of unpleasant surprises. We reunited with Audrey in post-op. She was drinking some sugar water and wearing a fun knitted, pastel rainbow hat. We were wheeled up to the children's hospital floor into our room for the evening. It was so cramped with what seemed like very little room for the three of us. The bright colors and crazy shaped woodwork tried to make the space seem happy but did little to ease our fears. Will left for home to pack us an overnight bag and we anxiously waited for the results of the test. Trying to hold and breastfeed a baby connected to tubes and wires, I found, was quite the challenge. My heart breaks for families of children who are in the hospital for extended periods of time. Just one night was rough.

It was later that night that we received the call--the results came back and there was no mass in her brain. A wave of relief quickly rushed over my body. We were then given the news that they did find something--some retinal abnormalities and low fluid in her left eye. The doctors made it sound as though it was no big deal. Apparently lots of people have low fluid but it's never detected because not everyone gets an MRI done in their lifetime.

Our next specialist stop was to the University of Iowa Pediatric Ophthamology. Will and I talked the whole way to Iowa City, reassuring each other that "she probably has low vision, but we know she can see." Little did we know we'd hear the complete opposite. The doctor came in, we reviewed her medical history and MRI, looked at her eyes through a variety of different lenses and tried to get Audrey to track various objects and lights. The doctor turned the lights back on and said, "Well, we know she can see light and dark, but beyond that we don't know if she can see anything." We were stunned. I then asked him "...so what does that mean?" His response, "She'll likely be legally blind. There's nothing we can do for her--just go back home, get back to your normal routine and love her."

We had accepted she'd probably need glasses but never in our wildest dreams did we think we think her eyes were as low vision as they were. That drive back to West Des Moines is one I will never forget. We both sat in silence... not really sure what to say to each other... not sure we'd heard him correctly...not sure we were wanting to believe.

But we went home, and started our new normal. And, surprisingly it didn't feel much, if any, different than before. Because when you're in front of the doctors telling you a new diagnosis that is scarier than the last it’s hard not to focus and dwell on it. But when we were home playing with our sweet baby, she reminded us just how happy she was. How healthy she was. How perfect she was. How much we love everything about her. Really the main things that changed were more high contrast toys, toys with different textures and touch-and-feel books. I had also put off painting Audrey’s polka dots on her gray wall for quite some time but I now had new found motivation to finally start and complete the project as it would give her something high contrast to look at while laying in her crib. Before they were just an idea for decoration and now they had so much more meaning behind them. Stenciling all of the polka dots was time-consuming but yet therapeutic in a way.

Next on our specialist list we added Dr. Drack—a Pediatric Genetic Ophthalmologist at the University of Iowa. And what a breath of fresh air to meet with such a talented and caring doctor. Like the previous doctor, she reviewed Audrey’s entire medical history from my pregnancy to current day, examined her eyes with a variety of lenses and then determined she needed to take some pictures. We were taken into a small dark room where Audrey was laid on a board and swaddled tightly to help keep her still. A long instrument was placed against her eyes and immediately on the computer screen next to her we saw the inside of her eyes. I had to excuse myself as the sounds of my daughters screams, accompanied by the images on the screen and the fact that this teeny tiny room was crowded with Will, myself and 4 other doctors/interns/residents was more than I could handle and I was afraid I was going to pass out. After the images were done, we went back to our previous exam room where we reviewed the findings in greater detail. Audrey’s left eye has only a sliver of retina which is located along her periphery meaning she has very little vision in this eye. Her right eye, or what we now refer to as her ‘good eye’, has some healthy retina (which looks pink, fleshy and veiny) but also showed many white spots (which I often refer to as looking like Swiss cheese). These white spots were areas where the retina never developed. She also has stalks which extend from her retina to her lens. These may appear to her as ‘floaters’ later in life. It’s to be determined if they will be a bother to her and need to be surgically removed, however the surgery would be risky. Again we were told that Audrey would likely be legally blind, and we got a new secondary diagnosis : microcephaly.

Microcephaly means ‘small head.’ We knew she had a small head at birth and was measuring below the curve at her well check-ups, but it had always been dismissed as a non-issue. However, if the skull doesn’t grow enough, the brain can become compressed leading to developmental delays and learning disabilities.

So now between Persistent Fetal Vasculature and the Microcephaly it was time to meet with a new specialist, a Pediatric Geneticist, to see what could have caused this to happen. I wasn’t quite sure what to expect from our exam, but it was fairly straight forward. He met with us, we reviewed her medical history yet again and he looked her over literally from head to toe to check for any abnormalities—everything was normal. He had us go to get blood drawn to look specifically at the FEVR gene for defects as well as a chromosome check. We also were referred to yet another new specialist, Blank Children’s Pediatric Infectious Diseases doctor to confirm that our daughter’s condition was not due to an infection in the womb.

Again after all the whirlwind of appointments, we went back home and life once again went back to normal… except something magical started happening. Audrey’s vision seemed to improve what seemed like daily. She started looking at and studying our faces. She reached for toys with great accuracy, including the smallest things like the strings on Will’s hoodie sweatshirts. And tracking, a HUGE milestone, was caught on video for the first time. But knowing what we knew, especially after what we’d seen her retinas look like…how was this possible?

April 1st was her next appointment back at the U of I. As if we weren’t already a ball of nerves (Audrey was to be put under anesthesia once again for better images of her eyes), we drove over in less than ideal conditions: a snow storm. We were one of very few on the road but we made it there ok and her appointment went fabulously. After she came out of anesthesia and we were able to meet with Dr. Drack and a Pediatric Retina Specialist we were given good news for a change. Her retina in her good eye had flattened some since last seen meaning she would have better vision than originally anticipated. Dr. Drack said she had noticed the difference almost immediately as they were taking the images but was very surprised as it’s not a common thing to see happen in conditions like hers. We were thrilled! She had asked if we’d noticed any changes and we told her about all of the positive signs that Audrey had been exhibiting back at home. She was thrilled. We were thrilled. She gave us a big hug and back home we went.

Other good news we received not long after that—the FEVR gene was normal as were her chromosomes. It was fabulous news, but still not an answer. The TORCHS testing also came back clear meaning whatever this is she’s dealing with is not due to an infection but is genetic. Dr. Drack submitted her blood work to research to look for a different gene, KIF11, which is linked to retina issues and microcephaly. The benefit to doing this under research study is that it will be at no cost to Will and I, however, it could take a month, 6 months, a year or 5 years—we don’t have a specific timeframe as to when we’ll have results.

In the meantime, we reached out to Heartland AEA to get Audrey set up with the early intervention resources she would need as a visually impaired child. Two instructors came out to do an initial assessment to determine how frequently an instructor would need to meet and work with her. The first instructor went through his visual testing, looked at Will and said, “I’m going to have to go back and talk to my other colleagues—she’s right on target so I’m not sure what our plan will be for her. We may only need to work with her once a month or possibly only 3-4 times a year.” Amazing! We knew she was doing well, but to hear it from an expert…there are no words. The other instructor checked her development. After her testing was through she determined that Audrey was developmentally at an 8 month old level. She was only 6.5 months old at the time. If Audrey is to have any major developmental delays, the 6-12 month period is when it would likely show up. To know as we head into this time period that she’s already ahead of the game is pure relief. We know we’re not in the clear yet, but we feel so positive about the direction she’s headed. Only about 15% of people diagnosed with microcephaly go on to have no complications.

And just when you think our meeting with specialists are over… you are wrong. We were referred by our neurologist to a neurosurgeon over at Mercy Hospital to check that surgical intervention would not be needed for her microcephaly. In some instances the plates in the head fuse together rather than just close. This would prevent her head from growing. In those instances a surgeon has to go in and separate the plates to accommodate additional growth. After x-rays of her head, we were officially in the clear that surgical intervention would not be needed. A HUGE sigh of relief and more good news that we so needed.

So here we are. Seven specialists, one EEG, multiple x-rays, one MRI, two times under anesthesia, countless tubes of blood drawn…and one daughter who continues to prove everyone wrong. Sure, we still have plenty more appointments ahead of us but we know Audrey’s future is so bright.

Audrey, your dad and I are so proud of you and how far you’ve come. You’ve been through so much in your short time here and you’ve done it with grace and a smile on your face. You are such a joy and a blessing in our lives and we love you so, so much. I look forward to continue watching you simply flourish.

#PFV #Microcephaly #Hope #audreysstory