Emmarie Update

Hi all! Well most of you are probably chuckling to yourself right about now as you know I have said that I do not have time in my life to blog, but here I am again eating my words. I said the same thing about Facebook, and yet I find myself frequently checking my iphone for status updates throughout the day. So, I cannot guarantee frequent blogging, but in light of everything that is going on with Em, I felt like this was probably the easiest way to update everyone who wants to know without having to have lots of lengthy phone conversations. So, here goes......

Emmarie Jane Martin

As some of you know my experience having Eli (our first child, who will turn 3 on April 9th) was not the best. Labor was long and ended with a perfect baby and a mom whose body took months to recover. The second time around was completely different. Emmarie came after a short labor (thanks to my buddy the birthing ball) and although there was 30 minutes of the most intense pain I have ever experienced, my body was in much better shape afterwards than it was with Eli. The first indication that something wasn't right came to me through my Labor and Delivery nurse. As I was lying on the bed getting stitched up, the nurse came over to me and said the words that no mother wants to hear......."It looks like she might have birth defects in her hands." The world seemed to slow to a screeching halt and a hazy numb feeling came over me. X rays were done and declared "normal" and everyone seemed to suggest at the time that perhaps the hands were just positioned weirdly in the womb, causing them to turn in radially. However, from the first moment that I studied her precious little hands I knew something was wrong that was not simply "positional." I immediately feared that she had some sort of genetic condition and I studied her closely looking for other signs. At first we didn't see any. She appeared perfect in every other way. So, we visited an orthopedic specialist when Em was about a week old, and he referred us to the Shriner's hospital in Shreveport, Louisiana. Our first appointment was set for mid January and we went about the business of caring for our precious little angel. Just as I was staring to breathe a sigh of relief around 8 weeks ( she was smiling, holding her head up, and doing all the other things that she should be), we went for her check-up and our pediatrician heard a heart murmur. He assured me that this was very common, but sent us on the cardiologist for further testing. As I sat in his office waiting for him to bring the referral for the cardiologist, I was struck again with the hazy feeling. I think that it's probably my body's way of dealing with intense fear of the unknown. We went in for an echo cardiogram a few days later and immediately I could tell something was wrong. The tech left the room and came back with another more experienced person and they did a lot of whispering to each other etc as we tried to hold our 2 month old still. When the results came back a few days later we learned that Emmarie had an ASD and a VSD. Basically she has 2 holes in heart where they should not be. The cardiologist we met with later was wonderful and right now we are just waiting to see what happens as she grows. Sometimes these openings close themselves as the child grows. We go back in May for a new echo to see if anything has changed. If they do elect to close the openings it will not be until she is over 2 unless there are other unforeseen problems between now and then. So, after the cardiologist we headed to Shriner's for our first appointment a few days later. We met with an orthopedic specialist there. Her conclusion was that no conclusion could be reached until Emmarie is older and her bones have calcified. Then she will be able to see what exactly is going on and what course of action should be taken. She said she would eventually do surgery on her thumbs, but not until after the age of 2. She also directed us to have splints made for Em's wrists to help straighten them out. So, we left Shreveport with splints and more questions than answers. The orthopedic doctor suggested we meet with the geneticist and so an appointment was made for March. From late January to mid March we did the day to day parenting and saw progress in her wrists as they appeared to straighten more and more. Again I breathed a sigh of relief as she hit all her developmental milestones, cooing, rolling over, etc. She is such a happy baby, smiling and laughing constantly. As the appointment with the geneticist grew near I had mixed feelings. I wanted an answer, but I didn't at the same time. After arriving at Shriner's this past Wednesday we waited for over 3 hours to see Dr. Chen. When we finally saw him he asked us a few questions, looked at Emmarie's xrays and her hands and then very calmly flipped to a section in the book that he wrote and announced that his clinical diagnosis was that she had Holt-Oram Syndrome. Again, the hazy feeling. Although we wanted an answer, it still hit me like a ton of bricks. Hearing the word SYNDROME was overwhelming and scary. Although I've only had a few days to research what this means, basically it is a heart-hand genetic disorder, occurring in 1 in 100,000 births. Her actual diagnosis is pending a genetic test. Since, neither Jason or I are aware of any family history of this disorder, it is most likely a "fresh mutation" meaning we did not pass it down to her. There is a vast spectrum of presentations of this disorder from the mild to severe. We are very blessed that Emmarie appears to have a very mild presentation at this time. We are still reeling from the diagnosis and it's implications but we are trying to stay positive and be thankful that she has nothing that is life threatening at this point. Her heart and hand problems that we were aware of are all completely fixable with surgery and therapy. We are praying that no new issues arrive, but will deal with anything as it comes. I think it's natural for a parent to think "why me, why my child?" when something like this happens, and I definitely have had this thought. However, I know the more appropriate response is "why not me?" No child "deserves" to be born anything less than completely healthy and perfect, so I choose to believe that God made Jason and I Emmarie's parents for a reason. He knew that we would love her and take care of her no matter what. We are capable of dealing with these issues and giving her the best life possible. It's hard for me not to think of the future and the possibility that my baby will face complications or limitations that others will not, but I'm trying to take one day at a time and do the best I can for her moment to moment. Next week I will be trying to work out the details of the genetic testing as it is not an easy process. I'm not sure how long it will take to get an answer, but I will update here when we know anything. Thanks for all your thoughts and prayers.