Our journey began in January 2018. My son Cullen seemed to have the never ending cold that winter. After our third or fourth visit into the pediatrician’s office he ended up with pneumonia. At that same visit, the pediatrician we saw told us that she heard a little bit of a heart murmur and that we might wanna think about taking him in to cardiology for an exam. However, she wasn’t our normal pediatrician, and we knew he had his annual visit with his actual pediatrician coming up in the spring. So, we put it off and wanted to get a second opinion from him. That March, his pediatrician confirmed the heart murmur. We got referrals to cardiology, and made an appointment for the summer. A few days before Cullen’s cardiology appointment, he was back in his doctor’s office for a weight check, (he had always had problems putting on weight, which we now obviously understand why, but didn’t at the time). That weight check visit was with a physician assistant, Michelle. I feel like I owe everything to her.
Michelle had a couple of medical students with her that day. They all routinely listened to his heart and Michelle commented on his ”very strong heart murmur.” I told her we were going to cardiology in just a couple of days to have it all checked out. She looked from me back to my son, took a minute to gaze at him, looked back at me and asked how his flexibility was. I told her it was off the charts- I mean this is a kid who constantly sits “W” style, with his knees bent and bum between his feet. He also takes his socks off by pulling his foot all the way up to his hip behind him. Michelle looked at me again then and said, “make sure you tell them that when you go to cardiology. If I had to wager a guess, I think he might have a connective tissue disorder.”
Cardiology took all the tests – EKG and an echocardiogram – and confirmed that diagnosis. He has a moderately dilated aorta, mild mitral valve prolapse and mild mitral regurgitation. It was a lot to swallow. They recommended we see genetics to have him tested for a connective tissue disorder and come back for another look at his heart in 6 months. So Christmas Eve, 2018, he went in for his blood test – and in February the bomb was dropped. Cullen was confirmed to have a mutation in his FBN1 gene – Marfan syndrome. We didn’t even know where to turn for answers; but started with the Marfan Foundation. And at this time, we believe his mutation is spontaneous but I still need to be tested to confirm. My husband’s test thankfully came back negative – but MAN were those few weeks waiting for the results stressful.
In March we went back to cardiology to see if there was any growth in the dilation. That visit was with Dr. Ron Lacro at Boston Children’s – the proclaimed “guru of Marfan.” Thankfully, the only dilation growth Cullen experienced was in relation to his overall growth. Dr. Lacro spent almost 2 hours with us reviewing the results. He explained the anatomy of the heart and what was happening with Cullen’s. He explained z-scores. We talked about the possibility of heart surgery and he reassured us that looked like a world away at this time. He answered every question we threw at him with grace and was more patient than any doctor we’ve ever come into contact with. He explained that Cullen’s dilation WOULD grow, but as long as it grew in relation to his physical growth, it would be manageable. He gave us the option of putting Cullen on either losartan or a beta blocker, and helped us make the right decision (we went with losartan). We’ve seen orthopedics and ophthalmology, too. And we’re SO grateful that Cullen has no major concerns at this stage. We’ll repeat this process – cardiology, orthopedics, ophthalmology – once a year, every year.
Sometime after we knew it was Marfan, I was back in the pediatrician’s office with my daughter and back with that same PA, Michelle. She remembered me and asked how my son was and how his cardiology visit went. I told her that he was diagnosed with Marfan syndrome and that I felt like I had to thank her for mentioning the flexibility. She smiled at me with the kindest eyes and said “my best friend has Marfan syndrome. I took one look at him and just knew.” She went on to tell me that her best friend has had two open-heart surgeries but is living her best life and is now thriving at 37 years old.
So how does Cullen handle all this? He’s a perfectly normal almost 6-year-old kid. He takes his tiny losartan pill every night without question; he even reminds us if we forget. He speaks up if something hurts but never complains. He doesn’t miss sports because he was never involved in them to begin with. He uses his long nimble fingers and amazing brain to build phenomenal Lego structures. He honestly helps us stay leveled, he makes us stronger because he’s strong. He doesn’t let his diagnosis define him and we couldn’t be prouder of that mindset and him.
Being a parent of a child with chronic illness is one of THE hardest things – knowing you can’t “fix” them. But I’m so grateful for this Marfamily to help us navigate these uncharted waters!
Melissa is a Marf Mom to 6 year old Cullen and 3 year old Maura, who is undiagnosed as of yet. They and her husband just north of Boston with their two beagles. Melissa is an event manager by day, yoga teacher by night.
