Macon Strides for Loeys Dietz Syndrome & Macon'Smiles

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Macon's Story

Macon's journey with Loeys-Dietz Syndrome (LDS) began just seven days after his 3rd birthday in 2017. In truth, it started the day he was born.

On November 17, 2017, Macon's dad, Tobie, underwent emergency open-heart surgery after suffering a life-threatening aortic dissection. This condition involves a tear in the inner layers of the aorta, the body's largest blood vessel. The surgery lasted 10 hours through the night. When the surgeon, Dr. Alan Kypson, met with us the next morning, he explained how rare aortic dissection is in someone so young. He noted that Tobie's arteries and aortic tissue didn't appear normal and recommended genetic testing.

Tobie remained in the ICU for 30 days and was on life support for 20 of them. He also battled pneumonia during his recovery. He had a tracheotomy, a feeding tube, and many scars that told the story of what he had endured. He missed Thanksgiving and his 34th birthday, but, by the grace of God, he made it home just before Christmas.

While Tobie was in the hospital, Macon had a scheduled follow-up with his orthopaedic doctor at Duke Children's Hospital. Aside from his pediatrician, Macon's orthopaedist, Dr. Robert Fitch, was the second doctor he had seen regularly since birth. Macon was born with bilateral clubfeet, a condition where the feet turn inward. We were told at birth that it was a relatively common defect with no clear cause.

At just eight days old, Macon received his first set of plaster casts. Each week, we returned to Duke to have the old ones removed and new ones applied. At each visit, Dr. Fitch gently adjusted Macon's feet into better alignment. After a series of casts, Dr. Fitch determined that Macon would need surgery. At three months old, Macon had his Achilles tendons cut. His legs were then recast to allow the tendons to regrow at a longer length, which helped prevent the feet from turning inward again. Over the next few years, he wore special shoes and splints to maintain the corrections.

During the days following Tobie's surgery, I spent hours researching genetic testing. I called genetics departments at several university hospitals. Duke told me we'd need a referral, and that testing might take 6 to 12 months to complete. At Macon's next orthopaedic appointment, I explained the situation and asked Dr. Fitch for a referral to genetics. I told him Tobie had just survived an aortic dissection at 33 years old. Dr. Fitch asked why I was focused on genetics when what Macon really needed was to see a pediatric cardiologist. That moment hit me hard—I had assumed there was a set process to follow and didn't realize we could skip straight to cardiology.

Dr. Fitch's physician assistant helped us find Dr. Rachel Torok, a pediatric cardiologist who specializes in genetic heart conditions. We got in to see her that January. After hearing Tobie's story, she immediately ordered genetic testing for him.

Six weeks later, we had our answer. Tobie had Loeys-Dietz Syndrome Type 4, a rare genetic connective tissue disorder caused by a mutation in the TGFB2 gene. LDS Type 4 is autosomal dominant, which means there is a 50/50 chance of passing it on to children. The condition affects blood vessels, arteries, the heart, and the skeletal system. It greatly increases the risk of aneurysms anywhere in the body.

Given that Macon was born with clubfeet (a skeletal abnormality) and had aortic root dilation found during an echocardiogram, we were mentally preparing for the possibility that he had inherited the same condition. A few weeks later, it was confirmed, Macon also has Loeys-Dietz.

Since his diagnosis, Macon has undergone multiple echocardiograms, MRIs, and a CT scan to monitor his arteries, brain, and spine for signs of aneurysms. He takes daily blood pressure medication, which research shows may slow the growth of the aorta. Unfortunately, there is no cure. Even with medication, there is still a chance that Macon could one day require surgery to repair his aorta.

In August 2019, we lost Tobie's brother, Richard, to complications from Loeys-Dietz after a surgery to replace part of his thoracic aorta. The grief from that loss is still with us. The physical burden of LDS is real, but the emotional toll on surviving family members is often just as heavy.

Even through it all, we remain incredibly thankful. We live near a world-class children's hospital with doctors who know what Loeys-Dietz is and how to treat it. Managing multiple appointments and specialists can be exhausting, but we are surrounded by a team that has walked this road with us from the start.

Loeys-Dietz is a frightening diagnosis, especially after watching Tobie fight for his life. But we have hope. With close monitoring and care, we believe we can stay ahead of the curve and prevent another emergency like the one that changed everything.

The Loeys-Dietz Syndrome Foundation (LDSF) was a lifeline when we received both diagnoses. They provide education, resources, and community when it feels like no one else understands. We've met so many doctors who had never heard of Loeys-Dietz before. LDSF has helped us feel seen and supported, and they are leading the way in vital research.

We hold onto the hope that one day soon, new therapies or treatments will make surgeries like Tobie's unnecessary, for Macon and for others.

We are deeply grateful for every prayer, donation, and act of kindness offered in honor of our journey. Loeys-Dietz is complicated and rare, but with the support of Duke Children's Hospital and the Loeys-Dietz Syndrome Foundation, we have found strength and peace in the midst of the unknown.

Thank you,
Tobie, Jessi, and Macon Mitchell