It’s been an emotional week. Although Stryder has had the diagnosis of aortic root dilation and Patent Foramen Ovale for almost 6 months, I didn’t realize it was as serious as it is until this last week to month. It started at the EDS conference where a Dr said that he likely has a condition called Loeys Dietz Syndrome. Even when I said that we did a WES (Whole Exome Sequencing) test and it didn’t show an LDS gene, he said it will be one unnamed as of yet. After talking with Dr. Francomano and taking the EDS diagnosis away and also having a sense of urgency in her voice and how she believes the hole and dilation are related, I started looking in to LDS and found a lot of information on what exactly is a root dilation. I have been on several boards asking too- I had many moms tell me not to be surprised if they tell us to have surgery right away. I found out that surgery for this happens when the z score is at 3.5 and Stryder’s is at a 3.55. He has an echo this Thursday and we will at least see if it has grown. I’m not sure if the local doctors know anything about LDS or not, but we will find out.
We did an updated LDS test a few weeks ago because no one really knows if they do the proper test in the WES test. The panel consists of the following:
ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2Disorders:
- Ehlers-Danlos Syndrome
- Loeys-Dietz syndrome (LDS)
- Marfan Syndrome/LDS/Related Disorders
- Thoracic Aortic Aneurysm and Dissection (TAAD) and Related Disorders
We know that the MYH11 gene is mutated already, but it doesn’t answer the aortic root dilation, and shows dilation in the thoracic area.
As it turns out, Stryder has several mutated genes that cause different types of aneurysms. I did some snooping on The John Ritter Research Program in Aortic and Vascular Diseases at The University of Texas Health Science Center at Houston (UTHealth) site and wrote an email to the genetic counselor who want to add Stryder to their study. She will be calling next week for an hour phone interview. I hope that this will give us some answers and take away some of the fear.
Loeys-Dietz syndrome (LDS) is a genetic disorder that affects the connective tissue in the body. The disorder was first observed and described by Dr. Bart Loeys and Dr. Hal Dietz at the Johns Hopkins University School of Medicine in 2005. Since then, other groups around the world have described additional genetic causes of Loeys-Dietz syndrome.
Individuals with LDS exhibit a variety of medical features in the cardiovascular, musculoskeletal, skin and gastrointestinal systems. Information about the natural history and management of individuals with LDS continues to evolve.