Burnetts Heart Club: The Diagnosis That Changed Our Family Overnight

This picture was taken last Winter, but it's one of my favorite pictures of our kiddos, at our favorite restaurant, Greenbush

Welcome to the Burnetts Heart Club. Typically, this would be a post about a specific IBD topic. However, I’m using my platform today to advocate for my children and share some very personal health and medical information regarding all three of them. I contemplated writing about my kids because they're not old enough to decide if they want to be in the public eye, but I felt this situation warranted further attention, a call to action. I am a patient advocate, and part of my mission is to create awareness, and in this case it's for the tiniest of patients. They deserve to have their voices heard.

My husband and I have had a few months to process (or do our best to process) the whirlwind of events that has consumed our lives, but when I actually sit down and think about it, it is still unbelievable. It's simply unimaginable. I try and stay busy because when I give myself a moment to relfect on this medical crisis, I completely fall apart. I think my IBD network will resonate with parts of this story, and hopefully, everyone who reads this is able to take something valuable from it.

Having Crohn’s disease, I am used to advocating for my own healthcare. What I didn’t plan on was advocating for all three of my kiddos.........all at once. It started at a routine well-visit back in late August. The pediatrician discovered our daughter Alice (7) has a condition called pectus excavatum. This prompted further testing, including an echo, which revealed a dilated ascending aorta. I wrote a post a while ago to share a bit of Alice’s journey, but I wanted to set the stage again before I tell you what happened next.

Lucy (10) and Guy (5) were also diagnosed with pectus excavatum as well as a dilated ascending aorta. Lucy and Guy also have a dilated aortic root. While the girls' conditions are relatively mild for now, our sweet boy’s z-score is 4.3! This score puts him in a separate category that requires much more frequent monitoring. You know it's serious when specialists are using words such as dissection, rupture and aortic anuerysm. Guy will never play contact sports, and a kick/shove/knock to the chest could be devastating. All three of our children will require heart surgery, so it's not a matter of if, but when.

This is where the real fight begins. The combination of defects still points to a connective tissue disorder (CTD), yet Alice’s initial genetic panel was negative. It's important to note that just because you test negative for a certain gene, doesn't mean that you don't still have a genetic disorder. They're discovering genes all of the time, so at the time of testing they may not have discovered the gene yet.

We are stuck in that agonizing medical gray area. Doctors are hesitant to move until they have that definitive genetic label, but I will not—I cannot—sit around and wait for something catastrophic to happen. My children’s hearts do not wait for bureaucracy.

The last few months, my days have been flooded with hospital visits and specialists. They all have their own cardiologist, so the goal is to pick one we like and merge all three kids. Because Guy is exhibiting the worst symptoms, he has referrals to ophthalmology, urology, gastroenterology, orthopedics, and the list goes on. The problem? They aren't working in tandem. I feel like I have repeated myself 1,000 times, and I have gone full "mama bear" on more than one occasion. I remember Ryan looking at me during an appointment wondering who his wife had turned into. That motherly instict just comes out, and you will stop at nothing.

At a recent cardiology visit with Guy, I did end up losing it with the nurse practitioner. I didn't appreciate her bedside manner, and my mood shifted. I raised my voice and started to cry. I demanded he have an abdominal ultrasound to check for an abdominal aortic aneurysm. He has been complaining of belly pain on and off for two months! One would think they would WANT to rule out anything life threating. Plus, he’s only five! After an eye roll and an obvious look of disdain, she placed the orders. You see, I don’t care who I tick off, irritate, or school. These are my babies. They will receive the very best care, and yes, I will call every day to see if there has been a cancellation to move up our long list of appointments.

As I mentioned before, we're still thinking an underlying connective tissue disorder is at play, but our concerns are shifting slightly because Ryan, my husband, just found out that he too has a dilated ascending aorta and root. He has now been referred to the Adult Congenital Heart Disease program. Heart disease. That’s what they’re calling what all three of my children—and now my husband—have. How can this be happening? Not just one.....but all 3 kids.....AND my husband. What? How is it that I have been spared? I would do anything to take this away from them. This is my family, my world, my everything. To be honest, this all has felt like an out of body experience, a nightmare-but it's real life- MY LIFE. I have been through incredibly difficult health/life challenges before (like everyone has), but this by far is the hardest.

We have a genetics appointment coming up, and more appointments with specialists, but right now, we wait. They said our situation is "urgent, but not emergent." When your kids are involved, those words are not comforting even in the slightest. I spend my days researching, on the phone with doctors/nurses, running and doing everything in my power to keep moving. Nights are the hardest because I'm forced to slow down. It's those quiet moments that are consumed by the fate that my family has been dealt.

If you are a parent facing a life-threatening diagnosis, please hear this: You are not helpless. You control what you can. That is why we purchased a blood pressure monitor (with both child & adult cuffs) and a pulse oximeter—to track the vitals that make me nervous. Heart disease is often a silent killer, but monitoring blood pressure can help prevent serious heart episodes from happening.

I educate myself relentlessly because no doctor knows my children like I do. Reach out to family, friends and support groups. Often times, you can find someone who is already so knowledgable about specifics of your situation. They have walked in your shoes......and more. THANK YOU SHELLEY. You have lessened my fear and worry. You have given me sage advice. You have given me words of scripture on the absolute hardest of days.

Be in close contact with your child's school. The school nurse should have all of the necessary medical documents, emergency protocol put in place as well as have you sign a ROI. Make sure you provide counseling for your kids because dealing with a critical health situation at a young age can create anxiety, and lots of BIG feelings. Lucy is aware of what's happening with them, but it's a bit harder to explain to Alice and Guy, and maybe that's ok for now.

When I told Guy that he has a bigger heart than most kiddos his age, he said, "Mommy, I think I know why my heart is so big. I have so much love in there." Mostly, keep the serious stuff amongst adults. Kids are sponges, and they pick up on tone of voice, body language, etc. Yes, they need to know about their health condition, but keep them smiling, and enjoying life because childhood is magical, and they don't need to worry about things out of their control.

There is so much I could be bitter about, but right now, I am actively clinging to gratitude as a lifeline.

• I am grateful for our children and that we caught this early.

• I am grateful to have a team of specialists.

• I am grateful my husband is on his own health journey.

• I am grateful that I am in remission so that I can advocate and fight for my three angels who are so loved.

• I am grateful for family and friends who remain steadfast in their love and support

  
  

So, I have a favor to ask. Please, reach out to someone who needs it this holiday season. We are all carrying heavy, invisible burdens.  Maybe it’s a friend from childhood you haven't spoken to in years, an estranged family member, or even a stranger who needs some uplifting. Knowing that someone cares, that someone sees you, makes all the difference.

"You never know how strong you are until being strong is your only choice."

-Bob Marley

I purchased this crystal angel with the red heart, and it sits on our windowsill as a constant reminder of our angels with their big hearts.

🩺 The Conditions Explained

For those who may be unfamiliar with the complex medical terms in our journey, here is a quick guide to the conditions that have taken over our world.

• Pectus Excavatum (PE): A structural condition where the sternum (breastbone) sinks inward, creating a visible "dent" or concavity in the chest. While often considered cosmetic, it can—in severe cases or when paired with connective tissue issues—put pressure on the heart and lungs.

• Aortic Dilation (Dilated Aorta/Root): The aorta is the body's main artery, carrying oxygenated blood from the heart. Dilation means the aorta or the aortic root (the area closest to the heart) is wider or larger than it should be. This puts stress on the vessel wall.

• Z-Score: This is a statistical measure used in pediatric cardiology. It indicates how much a child’s heart structure (like the aorta size) deviates from the average for their age, size, and gender. A high z-score, like Guy's 4.3, signifies significant enlargement and higher risk.

• Connective Tissue Disorder (CTD): This is the underlying genetic suspicion. CTDs affect the proteins that provide structure and support to tissues, including the walls of the blood vessels. Examples include Marfan Syndrome or Ehlers-Danlos Syndrome.

• Aortic Aneurysm, Dissection, and Rupture: These are the life-threatening risks associated with dilation. An aneurysm is a balloon-like bulge in the aorta. Dissection occurs when the inner layer of the aorta tears. Rupture is a burst, which causes massive internal bleeding and is usually fatal. This is why our situation is urgent.

Where to Seek Help & Support

If you or a loved one are navigating a connective tissue disorder or a major cardiac diagnosis, you do not have to do it alone.

Advocacy & Foundation Resources

• The Marfan Foundation: An excellent resource for research, support, and finding specialists related to aortic health and connective tissue disorders.

• American Heart Association (AHA): Provides comprehensive information on pediatric and adult heart conditions, including resources for finding specialized care teams.

• Parent to Parent Organizations: Seek out local or online groups focused on rare diseases or specific CTDs. Connecting with others who truly understand the exhaustion of being a medical manager is vital.

Emotional & Mental Health Support

• Therapy for Children: As mentioned in the post, children dealing with critical health issues need professional support to manage anxiety and "BIG feelings." Ask your pediatrician for a referral to a child psychologist specializing in chronic illness.

• Support for the Parent/Caregiver: Advocacy is exhausting. Please remember that parental trauma and burnout are real. Utilize counseling or support groups for yourself—you can’t pour from an empty cup, and you deserve a space to be scared without having to be "the fighter."