An Unknown Journey

I still remember the day very vividly. I was at Luca’s 4-month check-up and our pediatrician asked me if I noticed Luca’s arms and legs ever feeling really stiff up until then.   

I thought back over the past 4 months. “I’m not really sure,” I said back to her feeling like the worst mom ever for not knowing exactly what she meant. 

“I think he needs to see a neurologist,” she said. She went on to explain that his arm and legs were abnormally stiff, but his trunk felt very floppy. Whatever it was, it wasn’t normal. 

This was the first day of our unknown journey. 

I remember leaving that appointment and immediately calling Corey. So many thoughts raced through both of our heads. Was he going to be okay? Is something wrong with his brain? How did we not notice this before? 

Since that day, many other things have been discovered (or, maybe uncovered but undiagnosed) with Luca’s health and we’ve been on the ultimate quest for answers. 

When Luca was born, he had a congenital condition called Chordee which is an abnormal curvature of the scrotum. We knew this would require surgery when we went to the pediatrician 3 days after he was born. 

“We can do this. It’s only one surgery,” I thought to myself when we learned about the Chordee repair surgery. “He’ll be totally fine.”

A week before his Chordee repair surgery at his 6-month checkup, our pediatrician heard a heart murmur and referred us to a Cardiologist immediately knowing his surgery was just a few days away. She didn’t feel comfortable having him go into a surgery with full anesthesia without a surgery clearance first. 

We went to the Cardiologist a few days later and he too heard the heart murmur. Heart murmurs are actually very common in young children, however he wanted to do his due diligence and performed an echocardiogram. He discovered that Luca has two congenital conditions with his heart: a bicuspid aortic valve and a slightly enlarged heart.

“Just a few things we’ll want to keep an eye on,” he said while drawing a smiley face on a picture of a heart he used to explain Luca’s conditions. He wasn’t overly worried about either issue, but clearly explained the risks of those conditions worsening over time. He also said they could be non-issues and present no problems for him in his life. We’ll continue seeing the Cardiologist every few years or so, next after he’s two years old. 

Luca’s Chordee repair surgery went off without a hitch and we were happy to be done with what we thought would be his only surgery ever. 

Following his surgery, our pediatrician began noticing that his eyes were crossing inward much later than what’s considered typical for newborns. She referred us to an Opthamologist for a second opinion. By this point, it became a running joke every time we saw our pediatrician about who she’d refer us to next. You gotta laugh or you’ll just cry, right?

Our Opthamlogist agreed with our pediatrician and said that eye crossing (also called Esotropia) past 8-months old is abnormal and we’d want to repair his eye muscles with surgery. 

“You’re going to cut his eye muscles and sew them back together?” I repeated back to her. All of the things that could go wrong went through my head, but she reassured me that she performs this surgery almost weekly and it’s extremely low risk. 

Right after his Opthamologist recommended surgery, we were finally able to see a neurologist. He agreed that Luca’s muscles were abnormally stiff and diagnosed him with Hypertonia. 

“Something we’ll keep an eye on,” he said, which was starting to feel like a recurring theme. He explained what Hypertonia was in more detail, but assured us that it might not hinder Luca’s development at all. 

“I’d like to see him back when he’s a year old. By that time I’d like to see him pulling up on things and crawling around,” he said. 

Two days before Christmas in 2019, Luca had surgery to address his Esotropia… just in time to get one last surgery before our deductible would start back over in 2020. Phew! Everything went great with his surgery and we felt like we saw a noticeable difference with Luca seeing better afterward.

So it was a 2nd surgery, but both things are fixed now. It’s all good. We’ll just follow up with the neurologist when he’s one, but it’ll all be fine. He’ll be pulling up and crawling just like he said,” I kept telling myself. 

We felt really good going into 2020. 2019 was a year of surgeries and appointments for Luca and we were looking forward to a slower, calmer 2020. 

Boy were we wrong. 

The first week of January, Luca started to get really sick. He was throwing up after every meal and was super lethargic. We took him to the pediatrician and she thought it was just a stomach bug and prescribed lots of cuddle time and Pedialyte. 

A few days later, still not keeping anything down, we took him back to the pediatrician for a follow-up. He had lost over a pound in a week. 

“I think you need to take him to Phoenix Children’s Hospital. I don’t think this is a stomach bug. I’ll call the Emergency Room to tell them you’re on your way,” she said to me. 

I couldn’t breathe. I started crying big, fat ugly tears right in that yellow themed exam room. I called Corey when we left and told him I was taking him to the hospital.

We were in the hospital with Luca for a week, running various tests and procedures to figure out what was going on. First they thought he had swelling in his brain, which was ruled out with an ultrasound of his head. After more tests, there were questions of something going on in his stomach. It was then they started doing x-rays and ultrasounds of his belly. They discovered a malrotation of his small intestine that they felt was impacting his ability to digest food, which led to him not being able to digest anything more. 

They did surgery the next morning to move his small intestine to the correct place and removed his appendix at that time too. After that, he was able to eat normally again. They planned to keep us for a few more days to recover.

On our first night in the hospital, Corey and I were both at our lowest of lows. We felt ill-equipped to handle any of what was going on and didn’t know what to expect. 

“I’ll sleep on the floor,” Corey said looking at the one recliner chair in Luca’s hospital room. 

“We’ll take turns,” I said back to him, knowing that neither of us could survive sleeping on a cold, hard floor for days. 

The next day, we got a call from a social worker saying we qualified to stay at the Ronald McDonald house because we lived over 40 miles from the hospital. I will forever be grateful for the Ronald McDonald House Charities organization and everything it stands for. We wouldn’t have survived without that little room on the 2nd floor that gave us so much respite from the worst week of our lives. We were reminded during that time how lucky we were to only have been there for a week after meeting others who had been there for months. 

We were also reminded that week of how many people love and care for us. Our friends and framily (friends who are family) were so so good to us. Our jobs were also so compassionate and supportive of whatever we needed. 

On our last day in the hospital, the hospital pediatrician came to see us. 

“Have you ever heard of AZEiP?” he asked. He proceeded to explain the program to us and that he was recommending that Luca start therapy right away. He felt that early intervention would be key in trying to catch him up developmentally. We agreed and started the process to enroll him in the program. 

A few months later after Luca turned 1, we had our follow up with his neurologist. He recommended doing an MRI of his brain and spine. Originally this was something he didn’t plan to do until he was 2 or 3, but since Luca wasn’t progressing in his development, he felt it was a good idea to move this up.

The results of the MRI were fairly good. His brain looked completely normal, but they found some abnormalities in his spine. One thing they found is that his 2nd and 3rd vertebrae are fused together, which if you know anything about Tiger Woods, you’ll know he’s intentionally had some of his vertebrae fused together as the discs between them degenerate over time for some athletes. So this didn’t feel like that big of a deal. But they also found that he had a tethered spinal cord, which means his spinal cord was attached to the tissue around his spinal column. They also found a syrinx, which is a fluid-filled cyst within his spinal cord -- somewhere spinal fluid isn’t supposed to be. They recommended surgery on his spine immediately to release his spinal cord so it could flow freely and said the syrinx is something we’ll want to monitor over time. If the syrinx gets larger, it can damage the spine and cause symptoms like weakness in the arms or legs, difficulty walking and the inability to feel hot or cold. 

He had spinal surgery in July 2020, right in the middle of a global pandemic, which might have been the worst experience of our lives. Only allowing one parent in the hospital with a child is a special kind of torture that I understand, but absolutely hate. His surgery went well and we’re continuing to monitor his spine. He had a follow up MRI a few weeks ago to check on the syrinx and we’re currently waiting on these results. 

Luca started therapy sessions through Arizona’s early intervention program and he’s been seeing a physical therapist, feeding therapist and occupational therapist. We have 3 therapies a week and it takes a lot of our mental energy, but we’ve seen him make some huge strides because of it. We also have amazing (seriously, incredible) therapists, which is sadly not always the case, and they love him so so so much. 

Because we’ve had so many mysterious complications with Luca’s health and many of the issues have been congenital in nature, our pediatrician recommended we see a geneticist. 

The process with the geneticist so far has been pretty interesting. The first round of testing they did was called a Microarray Analysis test, which was to make sure all of his genes were present and in the correct order. Everything came back normal, which was a good sign, but it still doesn’t mean there isn’t an underlying genetic disorder causing him symptoms. 

The second round of testing they did, which we’re currently waiting on the results for, is called Whole Exome Sequencing. This test is to look at all the genes in a genome and identify any genetic variants. Corey and I were both tested as part of this test as well, to understand how our genetics compare to his. This will also help us understand the possible genetic recurrence in future siblings, if they do find anything. 

Tired yet? As you can see, Luca’s been through A LOT. Way more than any kid should have to go through.

The past 2 years feel like they’ve been the equivalent of 100 years looking back on everything he’s been through. Throw in a worldwide pandemic and that just adds another layer of crazy. 

We very much still feel like we’re at the start of our journey and we have so much to still learn. But we’re so hopeful that we’ll figure out answers soon. And if we never get an answer, we are still so hopeful that Luca will live a full and amazing life. He’s the biggest joy in our lives and continues to shine light in everything he does.