Genetic Counselor Appointment

The week between the specialist appointment and the appointment with the genetic counselor is hard to remember.  More tears, but also more comfort.  I decided to tell my sisters and David told his siblings too.  With telling them came pain, but also comfort in their love and responses to us.  They were so loving and their kind gestures and words, thoughts, and prayers meant so very much.  I also told a close friend and she became a great source of comfort and help to me as well.

On July 30th we had our appointment with the genetic counselor.  She was so gentle and kind in explaining everything to us.  She tried to explain about the extra chromosome 13 and why our baby has all these health problems and things that are wrong.  She was so good to answer our questions and go over each anomaly... Such an interesting word.  Anomaly means something that deviates from what is standard, normal, expected. I like some of the synonyms much better than others.
Sometimes it hurts me to think that our little Aven isn't normal like the word abnormal suggests, that she isn't perfect, because in my heart I know she is perfect to us - that her spirit, her soul are perfect.  But I don't think I ever want to pretend or try to say that she is something that she is not either if that makes any sense at all?  I think the word that I like the best to describe her would be rarity.  Yes, she has many things that might deviate from what was expected but that makes her rare. I love her no matter if her body isn't perfect. I love her because and in spite of that and because she is my baby and David and I and God had a hand in making her body.  I think I can I love her more perfectly because I know of her imperfections - of her rarities. And although it hurts me to know that I can't/didn't make her body perfect while she is growing inside of me and I wish I could take everything away and have her be born like Luke, Lynnea, and Lincoln - I know that it isn't my fault, that it isn't her fault that she has these anomalies. For whatever reason she is our rarity and we can love her, we do love her, and we will always love her.

The genetic counselor and specialist doctor were very supportive of our decision not to terminate.  They both thought that the amniocenteses unnecessary if we were to continue with the pregnancy and based on the blood test results and ultrasound findings the diagnosis of Trisomy 13 was made certain enough.  They gave us the opportunity for another ultrasound to see our baby and gave us some pictures this time which meant a great deal to us.

Here is Aven at 18 weeks:

The results of the ultrasound were the same as the previous week.  Here is how it was written in my chart:

IMPRESSION

18 week IUP in transverse presentation.
Fundal placenta, no previa.
Normal amniotic fluid volume.
MULTIPLE FETAL ANOMALIES: cleft lip and palate,
cardiac anomaly, diaphragmatic hernia, echogenic
kidneys.

The best thing about this visit besides been able to see her again and hear her heart beat was knowing that Aven was a girl.  It never felt right that she might be a boy.  I had a feeling in my heart for 2 years since Lincoln was born that there was another girl that was supposed to be part of our family and our hearts.  I wanted our little Aven so much!  It breaks my heart that she might have to go back to heaven and we might not be able to keep her for very long.  But I know that we have her now and that we were always supposed to have another little girl as part of our family, our little Aven.