I hope you are all well and pain free. I have some very happy news to share with you!!!! My son and I went back to the Genetic Service at Starship Hospital on Wednesday. After the Genetic doctor gave us the once over he was convinced that we did not have a single characteristic of Type 4. I burst into tears as we were just so relieved, I even hugged him and his assistant. Then he told me something that has had me smiling for days. He said that my son Tristan had less characteristics of Classic Type EDS than me. He explained it as my Classic EDS genes being watered down and Tristan's fathers genes being in the mix helped to water it down even more. So when Tristan has babies (and I sure hope he does), the same thing is bound to happen. YAY!
Through this whole ordeal of worry, I am just so relieved for my son more than anything. I did not want him to have any worry about my health every day and I did not want him growing up knowing that he may lose me early. The only thing that the Genetic doctor was mildly concerned about was that I have a slight dilation of the main artery in my heart and I am now going to be monitored every 5 years or so to keep an eye on it. This is a characteristic of the Classic Type.
So there you have it, wonderful news for the Brewer family and now my son can have his operation that he desperately wants. The doctor did say that he is slightly confused why Tristan has Pectus Excavatum and Scoliosis of the spine as it is not a Classic EDS problem. I am so pleased I made the appointment to see these Genetic doctors. I would tell everyone that was diagnosed years ago to have another appointment, as so much has changed over the years in the study of genetics. It is so good to know that people are doing amazing things to help people with Ehlers Danlos Syndrome.
Love Rowena XXXX