How Did We Get Here? (A Deep Dive)

I ask myself that question a lot actually...it's been a whirlwind, about 21 months since the whole journey began, and yet it feels hard to remember life before all of this.

So a (not-so) quick recap...

The Hospital Stay

In early August 2021, we took Aaron to the local ER after several days of unexplained fever. All the kids had a summer cold, but Aaron couldn't seem to shake it. The ER took a few images and diagnosed him with walking pneumonia. We got a prescription for an antibiotic and headed home.

His very first IV 

After several days of the antibiotic and no improvement, we took Aaron back to the ER. They admitted him and began IV antibiotics. During the admission process, our nurse hung a sign in Aaron's room that said something like most pneumonia-related admissions generally last for 72 hours. I stared at the sign and thought "3 days?? My baby is going to be in here for 3 days?" It seemed unimaginable at the time. 

Day 3...of 100

Little did we know that Aaron would stay inpatient, on that same floor in the hospital, for 100 days all together, including his 13th birthday. 

Sept 2, 2021

For three months, Aaron battled severe necrotizing pneumonia and all the assorted complications that came along with it. His journey through that illness is truly miraculous. 

But underneath all of that, there was something more serious lurking that we knew nothing about. The doctors struggled to find answers to why his pneumonia was so severe, why the antibiotics weren't working, and why he was having so many unrelenting complications. Aaron had lived his first 13 years as a completely healthy kid. It was baffling why this particular infection seemed to hit him so hard. Eventually, some clues led to a few potential options and through genetic testing, they began to close in on the culprit.

The worst week

Aaron was diagnosed with CGD - Chronic Granulomatous Disease. CGD is a genetic disorder that affects your body's ability to produce certain white blood cells. Those specific white blood cells are necessary to your immune system's ability to fight off certain bacteria and fungi. In most cases, these bacteria or fungi would pose no particular threat to anyone with a whole and healthy immune system. People with this disorder though, they are highly susceptible to these certain bacterial and fungal infections, often with very serious complications caused by subsequent inflammation - as we saw with Aaron's pneumonia experience. Since that diagnosis, Aaron has been on preventative antibiotics and antifungal medicines every single day to prevent another infection from taking over.

(Fun Fact: Aaron would like me to add that CGD is considered a rare disease. It affects 1 out of 250,000 people in the world. There are about 20 people born with CGD in the US each year. So if you haven't heard of it...that's probably why!)

Once the doctors confirmed that it was CGD, we began to research and pursue treatments for his pneumonia that were specific to CGD cases. Thanks in large part to our extremely caring team of doctors at Nemours, we were able to start Aaron on a steroid protocol that brought almost immediate results to his inflammation. His body began to heal and we were able to head home, right before Thanksgiving 2021.

His first trip outside in three months

But Aaron still had lingering damage from the pneumonia that still needed to be addressed. After having several chest tubes placed during the hospital stay to remove the excess fluid from his lungs, he had complications that led to on-going surgeries after he left the hospital through into December. It wasn't until the New Year that we felt like he was beginning on the road to true healing.

Next Steps

The next spring (April 2022) we traveled down to the National Institute of Health in Bethesda, MD to join their CGD study. We met with the world-experts in CGD, who ran a battery of tests on Aaron which all conclusively pointed to a formal CGD diagnosis. With that information, we were told that the next step in his treatment would be to begin the process of a bone marrow transplant. While doctors don't refer to it as a "cure", it's the only path forward that would protect Aaron from on-going infections and complications from CGD.

When Aaron's genetic test results came back the previous fall, we had immediately tested Sam & Jacob to see if they also had the gene. Aaron's particular mutation is X-linked, meaning it came from me and my X chromosome (10th grade science - yay!) so it was equally possible that his brothers had it as well. (We haven't tested Libby yet, but as a girl, she'd only be a carrier of the gene and not symptomatically affected the same way that a boy would be) We were SO thankful to find out that neither of the other boys had the mutated gene. 

That did mean, however, that they would both be tested as potential donors for Aaron's bone marrow transplant. After our appointment at the NIH, we completed our cheek swabs and waited (impatiently) for the results. 

When testing for bone marrow donor matches, they test across 10 different HLA markers. Each parent would be a 5/10 match, given that they've shared half of their genetic material with each child. Surprisingly, you can match with a perfect stranger! And many people do, especially if they don't have related siblings or their siblings aren't a match. But in our case, the results  came back and Jacob was a 10/10 match for Aaron. 

We'll tell the story of Jacob in another post, but from that point on, we began the process of finding the right team for Aaron's transplant and deciding when would be the best timing for the transplant to take place. In cases like Aaron, where there is some time to spare and it's not urgent, they prefer to wait until spring so that we can avoid as much of cold/flu season as possible. Once we considered our options, knowing that we had a full matched sibling donor and seeing Aaron recover to full strength, we decided it was best to move into the transplant process sooner rather than later.

It wasn't an easy decision. Right now, Aaron seems like a perfectly healthy kid again. It's been really hard to choose to make him sick again. But as we learned and listened to the experts, it seems like the risk is worth the reward in this case. Typical patients with CGD can expect to experience a life-threatening infection once every few years. Given the severity of Aaron's past infection, as well as some of the serious complications that he faced, we've been counseled that another infection similar to his last could be extremely severe. No one can predict the future, so no one can say whether that would happen to Aaron...and no one can say what the outcome of this transplant will be either. We have to walk in faith. We'd love to share the journey with you.

TL;DR

Aaron got really really sick with necrotizing pneumonia. We found out it was because he has a rare immunodeficiency for which the only "cure" is a bone marrow transplant. Jacob is his donor and we start the bone marrow transplant process on May 10th. Follow along?