Zionville, North Carolina
My name is Carla Duffy. I am 29 years old. We live in the mountains of NC. We learned of Maggie's possible diagnosis of Down Syndrome the same day we learned that she was a baby girl. A 2nd level 2 ultrasound at 32 weeks revealed an Atri-ventricular septal defect (AVSD). (I was considered a high risk pregnancy b/c of medication I was taking at the time of conception, so they were looking for possible birth defects, but we were definitely not expecting to find any.) Perhaps, hearing of the possible DS diagnosis along with the AVSD diagnosis, made that possibility pale in comparison.
The news was delivered very poorly and I just cried uncontrollably until I finally got outside of the hospital. I was standing there waiting for my husband to pick me up when an incredible peace came over me and I clearly heard the words of "that still small voice within" which I call God, saying "Everything that you have experienced thus far in your life has prepared you for this moment and for the future." I stopped crying and started thinking about how I was going to handle the immediate future.
About 2 weeks later, we had an amnio and an echocardiogram at Duke University Medical Center (not the same hospital as previously mentioned). I was hesitant about the amnio and really didn't care about the diagnosis, but everyone else really wanted to know. The experience was pretty awesome as I watched my baby's finger "float up" to the point of incision as the doctor withdrew the needle as if to let us know that she was very aware of what was going on. About another 2 weeks later, we received the diagnosis of Mosaic Down Syndrome over the phone from the genetic counselor who sounded rather sad, but said very little. I cried some more for a few days as I contemplated how this would affect my baby's life and how my own expectations were meaningless. About a week later, I got down to the business of learning everything I could find about DS (nothing to be found on MDS at that time). I told only family and a few close friends at first.
Maggie was born after an induced 8 hr. labor at 40 weeks gestation. She was healthy for the first 24 hrs, but then had to go the NICU b/c of respiratory problems. That was very hard. To have to be away from your baby at that critical time is an indescribable experience. She came home about 8 days later and had no problems. At 3 mos., she underwent open heart surgery to correct her AVSD. This was also difficult, but not as hard as the NICU time. I think I was more prepared for this.
Maggie is now 3 years old and is a wonderful and beautiful and intelligent child. She has been on TNI since 6 mos. of age and has been very healthy. She has been receiving Early Intervention since 2 mos. of age. Developmentally, she has some delays in all areas, especially speech, but it is hard to say how much b/c she is not a test performer. She is now in preschool and doing great. She is very popular with all of the kids and parents and everyone else who knows her.
Without a doubt, Maggie has been the greatest blessing of our life. She has given meaning and fulfillment to my life and taught us more than we could ever teach her. I thank God everyday for letting us be her parents.
I welcome anyone (parent or other information seeker) to contact me. The one last thing I would like to say is that MDS/DS is in no way an indication of a child's quality of life. If you've learned about this diagnosis before giving birth and are facing a difficult decision about what to do, look beyond this diagnosis and don't act out of fear. The greatest challenge for our children is not in their extra chromosomes, it is in the ignorance and prejudices of the larger society who think that being different is something to be shunned.
About 2 weeks later, we had an amnio and an echocardiogram at Duke University Medical Center (not the same hospital as previously mentioned). I was hesitant about the amnio and really didn't care about the diagnosis, but everyone else really wanted to know. The experience was pretty awesome as I watched my baby's finger "float up" to the point of incision as the doctor withdrew the needle as if to let us know that she was very aware of what was going on. About another 2 weeks later, we received the diagnosis of Mosaic Down Syndrome over the phone from the genetic counselor who sounded rather sad, but said very little. I cried some more for a few days as I contemplated how this would affect my baby's life and how my own expectations were meaningless. About a week later, I got down to the business of learning everything I could find about DS (nothing to be found on MDS at that time). I told only family and a few close friends at first.
Maggie was born after an induced 8 hr. labor at 40 weeks gestation. She was healthy for the first 24 hrs, but then had to go the NICU b/c of respiratory problems. That was very hard. To have to be away from your baby at that critical time is an indescribable experience. She came home about 8 days later and had no problems. At 3 mos., she underwent open heart surgery to correct her AVSD. This was also difficult, but not as hard as the NICU time. I think I was more prepared for this.
Maggie is now 3 years old and is a wonderful and beautiful and intelligent child. She has been on TNI since 6 mos. of age and has been very healthy. She has been receiving Early Intervention since 2 mos. of age. Developmentally, she has some delays in all areas, especially speech, but it is hard to say how much b/c she is not a test performer. She is now in preschool and doing great. She is very popular with all of the kids and parents and everyone else who knows her.
Without a doubt, Maggie has been the greatest blessing of our life. She has given meaning and fulfillment to my life and taught us more than we could ever teach her. I thank God everyday for letting us be her parents.
I welcome anyone (parent or other information seeker) to contact me. The one last thing I would like to say is that MDS/DS is in no way an indication of a child's quality of life. If you've learned about this diagnosis before giving birth and are facing a difficult decision about what to do, look beyond this diagnosis and don't act out of fear. The greatest challenge for our children is not in their extra chromosomes, it is in the ignorance and prejudices of the larger society who think that being different is something to be shunned.
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