Loeys-Dietz Syndrome

Overview:
LDS is a rare congenital connective tissue disorder. Only about 500 people world wide have been diagnosed. It affects every body part in some way. The most critical effect is on the heart, mainly the aortic root. In patients with LDS, the aortic root expands to the point of rupture, often leading to death, especially in people who have gone undiagnosed. LDS also causes aneurysms, ruptures, and tortuous vessels throughout the body. It affects bones, joints, the GI system, the central nervous system, the lungs. With proper care and maintenance testing, it is a manageable life-long condition. However, the danger of a catastrophic event happening is always present, regardless of how proactive an LDS patient is.

Symptoms:
Aneurysms, arterial tortuosity, scoliosis, kyphosis, flat feet, bifid uvula, cleft palate, craniostenosis,joint laxity, cervical spine instability, pectis excavatum or carinatum, osteoarthritis, contractures of the fingers, club foot, hernias, soft velvety skin, easy bruising, rupture of organs, congenital heart defects.

Testing/Diagnosis:
Genrtic testing when physical symptoms are noted.

Treatment:
No cure. There is no one treatment for the disease. Because it causes different ailments throughout the body, each ailment can be treated accordingly. The blood pressure medication Losartan is recommended for all LDS patients as a drug that can help slow the dilation of the aortic root and help prevent spontaneous rupture.

Resources:
Loeysdietz.org

Personal Story:
I found out that I had LDS when I was pregnant with my son, Bodhi. At that time, at 20 weeks along, doctors told me to terminate my pregnancy. It was too unsafe for me to carry and they were concerned I would have an aortic dissection or uterine rupture. My husband and I made the easiest and most difficult decision of our lives to give our baby a chance. The pregnancy was a scary ride, but we were relieved that I made it through when our baby boy was born 6 weeks early. Unfortunately, I had passed LDS on to him and he was born with a long list of his own problems. He spent the first 6 weeks of his life in the NICU. Then I went immediately into the hospital for my aortic root repair. I had made it through the pregnancy, but my aorta would not hold out much longer. At first the surgery was considered a success, but that night something went horribly wrong and I went into cardiac arrest. I died for 5 minutes before the doctors were able to revive me and take me back for an emergency coronary artery bypass. I spent the next two weeks in a coma and woke up thinking it was the next day after my original surgery. I was still intubated and very confused, then devastated when I was finally told what happened. I spent an entire month in the hospital missing my newborn son, and another two years before being fully recovered. Today, Bodhi and I live LDS every single day. Our daily lives are a struggle, but he keeps me smiling. He has a g-tube, and at the age of four, has several surgeries and medical procedures under his belt already. I deal with chronic pain and fatigue, along with a long list of medical issues. My little guy keeps me going though. If he can do it, so can I. He always gives me a reason to fight harder… And it’s because of him that I’ll never stop.

Contributed by MOM Bodhi Swindle