The crying has started

I almost made it thru the phone call from Dr Braverman w/out crying. You see, I was convinced that the DNA test would come back negative. We didn't fit the normal profile for Loeys-Dietz. I really thought that we would end up w/ something hadn't been discovered yet, because if there is ever an exception to any medical rule, we would be it. Dr Braverman said he had alrady asked Dr Dietz to review the test results and provide his recommedation. He had already talked to Dr Sharkey about it. They all agreed, Kai and I needed to have our aortas replaced immediately.

First thing Monday morning, July 28th, I received a phone call from Dr Marc Moon, my cardiothoracic surgeon. He was fantastic. Very upbeat, positive, reassuring. I got good vibes from him. He answered all my questions right there on the phone and told me if I had anymore to feel free to call or email him.

The next phone call was from Dr Sharkey. She was very patient with me and very understanding and genuinely concerned about our family's ability to handle the news we were just given. I didn't get the panicked feeling from her that I did Dr Braverman. Now, I was even more confused than ever. The average age of death for a Loeys-Dietz patient is 26 and not one person in our family had ever died of any type of dissection and there is major longevity in our family. This genetic flaw was passed down to me from my father who got it from his mother (my grandmother) and she got it from her mother (my great grandmother)/ My great grandmother was 99 1/2 when she died. My grandmother was 89 1/2 when she died. My father was only 68, BUT had fallen down some stairs, had a brain injury, ended up paralyzed from the waist down and complication after complication from being basically bed-ridden.

How could this be? There were so many characteristics that just didn't fit. I had to get a copy of the genetic test report. I had to see this for myself. There was something in Dr Braverman's voice that told me that this was not a cut and dried case.

My next phone call was to Dr Charles Huddleston, Kai's surgeon. He was in surgery, would have to call me back that night or next day (Tuesday). Tuesday afternoon rolled around and still no phone call from him. So, I called his secretary again. She said she would give him the message again. Dr Braverman's nurse called me and asked her to fax me a copy of the report. Was I blown away when I saw that. It stated that they had never seen the mutation that we had. I knew it! We had something that hadn't even been discovered yet. Ok, now I am really questioning the need for this surgery. I need some answers. I wish I could talk to Hal Dietz myself. Well, I know this will not be easy for Kai, so I set up a counselling appointment for him. I have already spoken to his school about getting a homebound teacher for him while he is out of school.

Wenesday afternoon rolls around. Still no phone call from Dr Huddleston. By this time, I can't take it any longer. I went to the internet in search of an email address for Hal Dietz. I want him to explain how he came to the conclusion that we had Loeys-Dietz when the report says they have never seen this mutation before. I found it! When I got home from work, I wrote a HUGE email to Dr Dietz, Dr Braverman, and Dr Sharkey explaining my concerns and asking them to please help me understand, hoping I didn't piss anyone off and figuring I would probably not hear from Dr Dietz. After all, I am nobody to him. But, at least I had gotten that off my chest.