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.

The day our lives changed forever......

For the last 7 years, we have been told we had Marfan Syndrome. That is, until we went to St Louis and saw Dr Angela Sharkey (pediatric cardiologist) and Dr Alan Braverman (adult cardiologist). After a lengthy session revealing our family history, Dr Sharkey said she didn't think we had Marfan Syndrome. She thought we had Loeys-Dietz Syndrome. When we walked out of her office, I was totally shocked, but I still had to see Dr Braverman. He agreed. When we left St Louis, my whole world had changed. As if Marfan Syndrome wasn't bad enough, we had to have Loeys-Dietz. You see, w/ Marfan Syndrome, your main risk is of an aortic dissection (burst open), leaky heart valves, scoliosis, detached lenses in your eyes. Ok, bad, but manageable. But with Loeys-Dietz, you are not only at risk for aorta dissecting, it is all the major vessels in your body (aorta, renal arteries, carotid arteries, iliac arteries), oh and the risk includes ruptured uterus, bowels. There are some things w/ Loeys-Dietz that we don't have: a split uvula (that hangy down thing in the back of your mouth), cleft palate, skulls that fuse too early. All three of us have the hypermobility (Kai is the worst), Linnea was born w/ a foot that was close to being a club foot and both feet were so flat the big bones on the inside of her ankles almost touch the floor. Kai has the pigeon chest, but only on the left side. We all have stretch marks. We all have scoliosis. Kai has dural ectasia.

Kai's aorta is now at 4.7cm. Mine is at 4.4cm and Linnea's is at 3.2cm. A "normal" adult's is 3.0. A Marfan patient would have their aorta replaced at 5.0cm, but someone w/ Loeys-Dietz has even more fragile vessels, so they have dissected as early as 3.0cm. Thus, the need for Kai and I to have our aorta's replaced. Our CT scans showed no other vessels that were dilated. Thank GOD for that!

I have had the DNA test verified our worst fears. I got that phone call on Friday, July 25th. I have been reeling since.