BENEFITING: Loeys-Dietz Syndrome Foundation
EVENT DATE: Jun 05, 2015
Like many of you, I had no idea what Loeys-Dietz syndrome was until my daughter was born. The day after she arrived she was sent to the NICU at Meriter with failure to thrive and hypotonia (low muscle tone). She was not eating, could not maintain her body temperature and her blood sugars were way off. My doctor told me she felt that she had a genetic disorder. Of course this destroyed me. I was totally caught off guard and afraid of what the future would bring. A genetic doctor from the Waisman Center saw Kallee and immediately thought she had Marfans. In looking at my husband and his physical features, he figured it came from him and said they should both get tested. The tests came back that they both had Loeys-Dietz Syndrome. Similar to Marfans, but with different symptoms. I have tried since their diagnosis to learn what I can about LDS. What I have learned it that it is a connective tissue disorder. This tissue makes up most of your body. The connections between your muscles, your arteries and veins, some of your organs. What this syndrome does is makes this tissue very stretchy. This means you are more prone to aneurysms as well as digestive issues, loose joints and any hollow organs can have issues such as your stomach or uterus for a female. My daughter will not be able to participate in any contact sports and will be limited in her physical activities. She and my husband have to have full body MRI scans once a year to watch for aneurysms. In fact, my daughter saved my husbands life. We did not know he had LDS until she was born. Once they were diagnosed, he had a MRI scan. It was found that he had an ascending aortic root aneurysm. This is silent killer that once it ruptures or dissects you usually don't survive. He was scheduled for open heart surgery and had his ascending aortic root replaced. We would never have known he had this issue until it was too late. Luckily he hasn't had any issues since then but he continues to get monitored as my daughter does. They both have many specialists which mean many appointments and lots of travel to Madison. What is in store for my daughter, we can only wait and see. But she has some wonderful doctors so we just do what we can and hope for the best.
I decided to put together a Zumba Party to support the Loeys-Dietz Syndrome foundation. I have found them to be a wonderful resource for information about LDS. They are trying to get information out there and to connect people who are dealing with LDS. They have been trying to set up a registry for people with LDS. They also support research for anything that can help people with LDS deal with it better. This syndrome was only named 10 years ago so there is still much to be learned. If you are interested in finding out more you can visit www.loeysdietz.org. I hope you can come and join me for the Zumba Party and help support this foundation that has come to mean so much to my family. And have lots of fun dancing!!