Kayla’s Story

(this story was posted to a couple online support groups around the 2nd week of May)

My name is Ecki and I’m 36. On April 5, 2004 I had a beautiful baby girl, Kayla. I live in rural Sullivan County, New York with my husband Larry and my older daughter Laurie who will be 3 in July.

Two weeks ago (on April 22), we were told that our precious baby has Down syndrome.

Backtracking a little….When I had my AFP test (seems so long ago!) the results came back 1:60 for DS. The OBs recommended an amnio which I declined (my husband and I decided that we would keep the baby regardless) and instead opted for the Level II sonogram. The first sono came back negative for all the DS markers, but they needed better pictures of the hands, so they did another full screen. That one came back negative again, but there was a shadow on the heart, so I had to go back for a third. Again, negative for all the DS markers. So the OBs said that even though the only way to know for sure was with an amnio, my odds dropped to 1:120. (so much for odds)

Kayla arrived a little over 3 weeks early (her due date was April 29th) by C-section. She didn’t breathe right away, and then when I finally heard her cry she sounded like a kitten. When the nurse finally brought her over to me, the first thing I saw was this really large tongue flicking at me like a snake! During our hospital stay, my husband commented on the big gap between her big toe and 2nd toe, and I noticed that her ears were all strange looking. But no one at the hospital mentioned the possibility of DS. The only indication was that her pediatrician mentioned that he was going to draw some blood because my AFP test was abnormal.

2 weeks later when we took Kayla in for her first pediatrician visit (and big sister Laurie, too) the doctor went about the examination and it seemed routine to me. He seemed to listen to her heart extra carefully, and spent a lot of time looking at her feet, hands, and ears. Finally he said “Remember that blood test I did….” And my heart sank to the floor.

He brought out the paper with the chromosome test and we stared blankly at the three squiggly lines above number 21. He went on about genetic counseling and the need to see a pediatric cardiologist for an echocardiogram right away. All I could do was hold little Kayla and wonder how this could be. My husband was doubly shocked because he figured all the sonos would have shown something. And making things even harder was our older daughter Laurie was sitting in the room demanding McDonald’s French Fries. So we tried to act “normal” since Laurie was oblivious to the news. (although my husband eventually broke down and cried while waiting in line at the McDonald’s drive thru. It was the first time I had ever seen him cry.)

The pediatrician was wonderful. He stayed with us for an hour even though he had a waiting room full of patients. He made calls to the pediatric cardiologist and got us in for the following week. He said he didn’t tell us anything at the hospital because he wanted to know for sure (and he said that the pediatrician attending the birth hadn’t noticed anything, and the nurses thought he was kidding when he said he thought the baby might have DS).

I’m glad I didn’t get the amnio. Even though we said at the time we would keep the baby no matter what, that’s easy to say if you’re not presented with a concrete diagnosis. Who knows what we would have done if we got the news that the baby would have DS. Even if we had decided to continue the pregnancy, I would have probably been miserable with worry and not enjoyed the birth. And I’m glad no one mentioned anything to us at the hospital. I was able to fall in love with my baby without a “disability” and as I told my husband when we were told she had DS, I didn’t love her any less.

We went to the pediatric cardiologist the following week and while we were in the examining room Kayla was hungry, so I fed her. Shortly afterwards she started coughing violently, turned blue and vomited. She’d been doing that for a few days, but I assumed that since everyone in the house had a head cold, it was just due to that. However, the doctor was alarmed and after the EKG and echocardiogram showed nothing (probably the best news we had heard during that week), she insisted we go straight to the pediatrician and even called him to let him know what she had seen, suspecting in was something in the lungs. So, we went back to the pediatrician, who sent us for chest x-rays.

As soon as we got home, the phone rang and it was the pediatrician telling us that Kayla had pneumonia in both lungs. It wasn’t life threatening, but we had to leave for the nearest children’s hospital, Westchester Medical Center, which was a 2 hour drive.

We ended up being in the hospital for nearly a week. While we were there, they did a barium swallow test and found out that Kayla had reflux, especially with the thin breastmilk. So they put her on Zantac and we have to mix the breastmilk with rice cereal. Seems to have worked since she hasn’t spit up since.

I’m glad to be back home. But now I’m facing that unknown road and trying to find as much information on DS as I can. I’m wondering when the crying jags will stop. They seem to be getting shorter and less frequent, but just when I think I’m over it, something happens and I break down again.

Thank you for “listening” to my long rambling story. Hopefully I can find some support and answers online.

UPDATE - MAY 22, 2004

Well, it's been a month since receiving Kayla's diagnosis. I can't believe how much I've changed. Kayla's given me inner strength that I never knew I had. And all the support from friends, family, and online has been amazing! I still cry and worry about Kayla's future, but mostly I live in the moment and take a day at a time.

UPDATE - MAY 29, 2004

Kayla had her Early Intervention evaluation today. She scored at age level on everything! There were only a few concerns. She doesn't get enough tummy time so she doesn't move her head from side to side when on her tummy. She doesn't visually pay attention to toys. And they were a little concerned about her reflux. They said she wouldn't have even qualified for EI if she didn't have DS. But she will still be getting physical therapy once a week and speech therapy for feeding consult twice a month.

Also, Kayla likes to smile at her Dad-do! MomMom is still waiting, though!