Connecting the Dots: How Crohn's Disease and Pectus Excavatum Might Reveal a Bigger Health Mystery

Living with autoimmune diseases can feel like navigating a chaotic maze, where one condition intertwines with another to create what many in the IBD (Inflammatory Bowel Disease) community liken to an "alphabet soup" of diagnoses. This became strikingly clear to me during my most recent journey with Crohn's disease. There are intricate relationships between our health issues and sometimes they might reveal a deeper, underlying issue. Keep reading to join me on this wild ride of fascination, exploration and heartache.

Autoimmune diseases occur when the body's immune system mistakenly targets its own tissues. Crohn's disease, a type of inflammatory bowel disease, is one example that can lead to various associated health issues. Research shows that around 30% to 50% of individuals with Crohn's disease experience complications related to other systems, such as skin, joints, or the respiratory system. I've had my own experiences with manifestations such as cataracts at just 46, as well as arthritis. In the IBD community, there is a myriad of diagnoses that some people encounter alongside their primary illness. Understanding these connections is critical, as effective treatment often involves addressing not just the main diagnosis but also these accompanying challenges.

What happened next blew my mind, and continues to unfold something larger at play.

Pictured here is my own pectus excavatum

At a recent well visit for my daughter, her doctor identified pectus excavatum, a condition in which the sternum caves inward, leading to a sunken appearance of the chest. For those of you who want to read more about pectus excavatum, you can read HERE. Alice, our 7 year old, has always been very tiny and quite bony up top. It wasn't until her pediatrician pointed it out, that I honed in the hallowed out area in the dead center of her chest wall.

After my daughter's diagnosis I took at closer look at my own body, and immediately made an appointment with my PCP to confirm a suspicion I've had all these years. I had never heard of pectus excavatum, but I thought I looked funny, or something was wrong. Sure enough I, too, share this condition. I've always been incredibly bony in my chest as well. I thought I just had a GIANT rib cage, where one side was lopsided. Turns out, my organs are rather crowded in there.

Pectus excavatum is often hereditary. Research indicates that it affects about 1 in 400 children, making it relatively common in families. While it generally poses minimal health risks, it can lead to complications, particularly if the chest deformation puts pressure on the heart or lungs. The realization that both my daughter and I have this condition highlighted the urgent need for more thorough testing and exploration of our health.

As we took steps to understand pectus excavatum better, we were referred to specialists, including a cardiologist and a pulmonologist. This comprehensive approach involved tests, such as and ECG, echocardiograms and genetic counseling, to better assess our health conditions, and concerns.

While preparing for my own health discussions, I did not anticipate the stark and terrifying news that would follow.The results showed Alice's echocardiogram indicated a dilated ascending aorta—an exceptionally rare occurrence in a 7-year-old. This condition can increase the risk of serious complications, making it a source of concern.

As many of us parents do, I started doing my own research, but quickly went down the google rabbit hole. A dilated ascending aorta in children is NOT good. I can see the shock in the eyes and faces of all the specialists and medical professionals when they find out Alice has this. I just can't bare the thought of anything happening to our sweet Alice, our tiny dancer.

If I could take her place, I would. There is nothing worse than something happening to your child, especially when it's a lifelong condition. I just want to keep her in a safe bubble at home where I can monitor her every breath, every movement, every second of her sweet 7-year-old life. One of the bagillion reasons Alice is so special though, is she's an incredibly tough little girl. That along with her sweet, hilarious, bright, and free spirited self, makes this process a teensy bit easier. It's very easy to love Alice. When we explained to her what she has, we told her that she has an extra big heart to hold all the love she has inside. We must protect it baby girl.

On the other hand, my own results showed a healthy heart. The contrast left me both relieved, but terrified, sad, anxious, and absolutely heartbroken.

Despite being separate conditions, pectus excavatum and Crohn's disease, along with the dilated ascending aorta, often co-occur in individuals with connective tissue disorders. Approximately 1 in 5,000 people may have these conditions linked to genetic factors. Recognizing these connections underscores the importance of investigating the genetic underpinnings that may affect both my daughter and me. This revelation has expanded my view of our health issues, presenting both a challenge and an opportunity for deeper understanding. After meeting with the genetic counselor, I am just trying to stay present, and take one day at a time. Alice and I will both undergo genetic testing to see if we do indeed have a connective tissue disorder. I have a pretty good idea on what we might have, but I just can't allow myself to go there just yet.

As we proceed along this journey, I recognize that health is an intricate puzzle. Each piece—whether Crohn's disease, pectus excavatum, or a dilated ascending aorta—contributes to our overall well-being. Despite the challenges, there is immense potential for growth and understanding.

Managing autoimmune diseases and related conditions deserves focus and reflection. The "alphabet soup" metaphor aptly captures the interconnectedness of our health issues and the need for thorough care. Through my experiences with Crohn's disease and my daughter's diagnosis, I see the indomitable strength of the human spirit. While the path ahead may remain uncertain, I am confident that by embracing the complexity of our health, we can uncover the answers and support we need. Together, we will continue to connect the dots, advocating for ourselves and each other as we navigate the challenges that lie ahead. Stay tuned, as we continue to unravel our medical mystery.

As we delve into our health conditions, I invite others in the IBD community and beyond to share their stories. Together, we can foster understanding, support, and empowerment in our shared journey through chronic illness.

This is a younger Alice, but I always think of her in her first pair of hot pink glasses. We love you sweet girl, our tiny dancer