The Diagnosis

We are creating this blog as a way to communicate everything that is going on (and may go on) with baby Annie. On July 18, we had a fetal echo at Dartmouth Hitchcock in Manchester. The peidatric cardiologist and the echo technician together took over 20 minutes of video during the echo, which lasted about an hour altogether. The pediatric cardiologist said virtually nothing during the echo, then had us move into another room so she could go over her findings.

The doc explained that Annelise ("Annie") has a condition called Endocardial Fibroelastosis, or EFE. It is a condition that affects the lining of the heart, causing it to become fibrous and less elastic than it should be. She told us that the baby is "tolerating" the condition at this point, meaning it has not progressed to any other complications and her heart (esp. the left ventricle, which is the affected chamber) is currently ejecting enough blood. We are scheduled for another echo with her in six weeks to determine if the condition has progressed at that time. The doc also told us that the chances that Annie would survive to term were about 50/50 at this point, but could go down from there based upon if/how the condition progresses in utero. She also told us that Annie could not live with this condition, and there is no cure. The only true treatment is a heart transplant. Without a heart transplant, the life expectancy is no more than 5. We were also told that if Annie makes it to term, we will have to deliver her in Boston so that they can deal with her condition there. That means delivery at Brigham & Women's Hospital, and Annie will go directly to Children's Hospital of Boston right next door.

Of course, Scott and I came home and began researching everything we could about EFE. The cardiologist had given us nothing hopeful or positive, but we saw reports that up to 1/3 of patients with EFE can recover completely. At this point, we don't know if the doc was seeing a severity in Annie's case that led her to only give us bad news; if she was giving us the worst case scenario so we would be prepared; or if she was giving us information based upon her own experience (and not recent medical advances).

Here is the most comprehensive info on EFE we have found so far:

http://www.emedicine.com/ped/topic2510.htm

My OB was out of the office, so we could not talk to her immediately. Meanwhile, we worked on getting the word out. We have some medical connections (thank you, Beth and Noel and Lori) and have had everyone possible doing some digging for us. So far, the positive part seems to be the early diagnosis. Since we know that Annie has this condition, we can go right down the road to Boston and one of the best children's hospitals in the country. There, they will be able to evaluate and treat Annie from the moment she is born. We just have to make it through the next 15 weeks or so ....

Scott and I were in shock at the diagnosis, of course. Reading all of the reports with their accompanying mortality rates was not fun. It is impossible to think about bringing this baby into the world, only to watch her die. The idea of putting a tiny baby through everything that would be involved in a heart transplant is equally as frightening.

On top of that, we have a fabulous, percocious, CHATTY three year old who believes not only that Annie will be born and that she will be a big sister right after Halloween, but also that Annie will be born in the hospital we drive by weekly (where she also was born) and that she will be able to hold her and bring her home from the hospital. It breaks our hearts to know that she probably won't be able to hold Annie right after she's born. It's also going to be a very different experience having Annie at Brigham & Women's -- their rules about siblings and visitors are much more stringent than those of Catholic Medical Center here in town. And that doesn't even begin to touch what we might be in for if Annie has to stay at Children's for an extended period of time. The idea of being separated from Jamie is hellish, but so is the idea of leaving Annie alone in the Cardiac Care Unit.

So right now, life is a big IF. If, if, if. We have nothing but questions at this point and don't know where we are headed. What we do know is that we have been overwhelmed by the support and love that has been offered to us by friends and family alike. From offers to help with Jamie, to friends camping out at our place and providing playtime for Jamie, to kind words of support, we are grateful for everyone in our lives. We have not been able to communicate with everyone individually as much as we would like to, but please know that we are thankful beyond words.