Meet Macon. Macon just celebrated his 4th birthday! His current likes are, Hot Wheels tracks, tractors, trucks, construction equipment, his iPad, playing outside and driving his Power Wheels Dodge Dually 3500 Longhorn addition around the yard. Macon doesn't like going to the doctor but this year he's had more than his share of appointments with various doctors.
Last November, Macon's dad, Tobie had emergency open heart surgery 1 week after Macon's birthday. He had an aortic dissection, a tearing of the inside layers of the aorta, the largest blood vessel in the body that sends blood from the heart to the entire body. A life threatening condition that has to be repaired quickly. It was a 10 hour surgery over night and when the surgeon, Dr Alan Kypson, came out to talk to us the next morning he explained that aortic dissection is rare especially in someone young and that Tobie's aorta and arteries were not normal in texture. He suggested Tobie have genetic testing done. Tobie was in ICU for 30 days, on life support for 20 because of complications caused by pneumonia. He was discharged the week of Christmas with wounds and scars from the surgery as well as from the tracheotomy and feeding tube that were required to keep him alive. Nonetheless he was able to celebrate Christmas and new year's with us!
While Macon's dad was in the hospital, Macon had a yearly checkup with his orthopaedic doctor at Duke. Aside from Macon's pediatrician, his orthopaedist, Dr Robert Fitch, at Duke was the second doctor Macon would see on a regular basis his first 3 years. Macon was born with bi-lateral club feet, a condition where the feet are turned inwards. We were told after he was born that it was a common birth defect and there was no good explanation why it happens. When Macon was only 8 days old he had his feet and legs plaster casted and once a week we'd make our way back to Duke to get the casts cut off and new ones put on. Each appointment Dr Fitch would manipulate his feet a little and cast them to slowly bring them closer to normal. At the end of Macon's serial casting Dr Fitch said he needed surgery. Macon was 3 months old when he had his Achilles tendon cut and legs casted for the last time. When the Achilles tendon is too short, it can be cut, the leg casted and during the recovery the tendon grows back longer so it doesn't pull the foot inward. Over the next 3 years Macon wore a series of special shoes and splints to help correct and maintain normal foot placement.
During the days after Tobie's surgery I researched and called multiple university genetics departments to find information on testing just as Dr Kypson suggested. I called Duke, explained the situation and was told we'd need a referral and testing could take 6 months to a year to complete. So I asked Dr Fitch at Macon's yearly checkup for a referral to genetics because his dad had an aortic dissection at 33 years old. Dr Fitch looked at me and said, "who cares what genetics says, you need a cardiologist!" It was a duh moment for my rattled mind. I assumed there were steps and a process that had to be followed that started with genetics. Dr Fitch's PA, Krista Gingrich researched pediatric cardiologist and found Dr Rachel Torok, a pediatric cardiologist that specializes in genetics. We were able to get in to see her in January, explained Tobie's situation and she immediately had Tobie tested for a variety of genes known to cause aortic dissections. 6 weeks later we had our answer, Tobie has Loeys Dietz type 4, a rare autosomal dominant connective tissue disorder caused by a mutation in the TGFB2 gene. Loeys-Dietz type 4 is characterized by blood vessel abnormalities, heart defects, arterial tortuosity, skeletal deformities and increase risk of arterial aneurysm anywhere in the body. Autosomal dominant means Macon had a 50/50 chance of receiving the mutated gene from Tobie. Given Macon was born with club feet (a skeletal deformity) and an echocardiogram confirmed aortic root dilation in the 100th percentile for his size (heart defect & blood vessel abnormality) we were prepared for the results to come back that he had in fact received the same gene from his dad. A few weeks later it was confirmed, Macon has Loeys Dietz as well. Since the diagnosis Macon has had another echocardiogram, a CT scan of his head and neck and will have a cardiac MRI soon to check his arteries for signs of aneurysm. He also takes a blood pressure drug each day that studies show can possibly help slow the rate of growth in his aorta. If everything looks normal and his aortic grow is stable, he'll be able to go another year before he'll have more tests.
We are a VERY blessed family even with everything we've gone through. Tobie is alive and back at work. We have good insurance and we live close to a world renowned children's hospital that have specialist that actually know what Loeys Dietz is and how to treat it. Although it's stressful at times to keep up with multiple doctors appointments I'm encouraged to have such a great team of doctors that have given us a game plan for Macon. Loeys Dietz can be a super scary condition, especially after what Tobie went through, but with yearly monitoring we hope to avoid a similar emergency situation with Macon.
The Loeys Dietz Syndrome Foundation (LDSF) was an amazing source of information after Tobie's and Macon's diagnoses. They work hard to inform, educate and provide valuable tools for patients, caregivers and doctors. In a world where we've found from experience most doctors, even cardiologists have never heard of Loeys Dietz, LDSF has reminded us we're not alone.
November is a BIG month for our family. All three of us celebrate birthdays as well as multiple extended family members and it's also the month of Tobie's dissection. This year we're asking for the best present of all to celebrate us, please consider giving to the Loeys Dietz Syndrome Foundation in honor of Macon and his dad Tobie!