admin
01-23-2007, 02:56 PM
This is the story of our daughter Katie Elizabeth. She was diagnosed with a CDH moments after her birth, and then eventually with Fryn’s Syndrome. We had no idea she was so sick. We'd had the AFP and the ultrasound. Her heartbeat had always been good and strong. She was an active baby.
Katie was conceived in March 2000. We were extremely happy to learn we were expecting. Our oldest daughter, age 6 at the time, was excited to learn she would be having a brother or a sister. I had awful morning sickness. It wasn't just in the morning, it was morning, noon and night! I was sick for about 2 1/2 months. I hated the seasick feeling, but I loved knowing that it was a good sign of a healthy pregnancy.
At around my 3rd month, I started feeling uneasy. I was convinced that *something* was wrong. I expressed my concerns. My doctor assured me that everything was fine. I still couldn't shake my feelings. About my 4th month of pregnancy, I started feeling uncomfortable. I seemed to hurt more than I remembered with my first pregnancy. My family and I had gone on a quick family vacation to our favorite amusement part and I knew the walking was going to be tiresome, but several times during the day I would start hurting terribly, almost to the point it hurt to walk. I later realized that I could no longer feel when I had to use the bathroom. Emptying my bladder every hour or so would became my routine until I delivered Katie.
Shortly after we returned from our mini family vacation, I went in for an ultrasound. My husband was so excited to see her on the screen. It was confirmed that she was a girl! My husband was in awe when he saw her little heart, beating so strongly. The tech said everything looked good.
Looking back, I would have to say that there would have been 2 maybe three red flags: I insisted that I saw her *hand* clenched; she was laying on her other hand/arm; and the fact that even though she was an active baby, she seemed non-responsive to our pokes and prods to my belly, it would almost seem as if she was trying to run away from them. My OB confirmed that my ultrasound looked fine. There was no indication that she even had a CDH. He did mention that I had a mild case of placenta previa. Nothing was ever mentioned about this since.
Shortly after my ultrasound, around my 6th month, my husband and myself started to notice that I was getting big. I was big with my first daughter, but this time, I felt & looked bigger than normal. Even my OB commented how big I had become since my last visit. He didn't seem concerned about it. By the last 3 or 4 weeks of my pregnancy, I had to stop driving because I couldn't fit behind the wheel, nor could I sit comfortably to drive safely. It also hurt to walk. I couldn't get comfortable to sleep; I felt like I was a balloon and I was about to pop at any moment. I had strangers asking me if we were sure there was only one baby in there.
During the last week of my pregnancy, I saw records that indicated that I was measuring over 2 weeks larger than what I was. We took Katie 11 days early, making me 38 weeks pregnant, I remember reading a document that I was measuring at 41 weeks.
November 28 came very quickly. We arrived at the hospital for the scheduled c-section. I was prepped and wheeled down to the OR. I chose to be completely sedated for the procedure.
When I started to wake up in the recovery room, I just had that feeling that something wasn't right. Sure enough, when I started asking for my baby, the recovery room nurse told me that my baby was having problems breathing. My heart broke into about a million pieces. I remember thinking no, not again! My first daughter had some mild complications after her birth and I just couldn't handle going through this again. Unfortunately, that was nothing compared to what I was about to encounter.
I was back in my hospital room when the meds started to wear off. I remember asking for my baby and that I needed to see my baby. Immediately, people started telling me that they were working on her and that we'd know something soon.
I have to stop and mention that shortly after I had Katie, a nurse for some reason felt it was necessary to mention to me that I had an enormous amount of amniotic fluid. Had I known then what I know now, I would have insisted my doctor do a more extensive ultrasound.
Katie's doctor came in and started to tell us that she had a CDH. He was confident that it was a minor tear in her diaphragm, and that he was almost confident that her lungs were fully developed and that this was something that happened when she took her first breath. He life flighted her to Children's Mercy hospital in Kansas City, MO. There, we learned that she had, in addition to her CDH, several other anomalies, hence leading to the tentative diagnosis of Fryns Syndrome...we're still waiting confirmation through the autopsy report. We also learned that her lungs were not completely developed; in fact, one was almost nonexistent and the other was significantly under developed. Once we learned the severity of her medical condition, we decided to disconnect her life support November 29, 2000. Katie died in my arms.
She looked absolutely perfect. She was beautiful. It's so hard to understand why this happened to her. I never heard her cry, I never saw her open her eyes to look at me. Fryn’s Syndrome cannot be detected in an amnio because they have not found the DNA link yet; and as we're all too familiar with, detecting a CDH on an ultrasound is difficult. There are other anomalies that could be detected on an ultrasound if the tech is trained well and knows what to look for, but unfortunately the outcome doesn't change. Fryns Syndrome is a rare genetic disorder. Majority of the babies born with Fryn’s are stillborn, and the few that are born alive are on life support and will be mentally challenged.
My husband, my daughter and I sat and held Katie for a long time. Shortly afterward, my daughter dressed Katie and helped present her to our families. And, then shortly after that, they brought her back to me and I continued to hold her for several more hours. I stroked her little head, smelled her hair, patted her back and just rocked her. I told her how much I loved her and how much I wanted her. I sang to her, I looked at every inch of her body. I had to cram a lifetime into a few hours. I just held her. I sat there and cried for her, my tears spilled over her little head. I wanted to take her home with me so badly. I was her mamma, why couldn't I make everything all better. I just didn't understand. My husband and I held her and held each other, together we cried. It just wasn't supposed to happen that way.
We had Katie cremated and we brought her home. Katie's signature color is purple. It also happens to be my favorite color. When I see the color purple, I feel comforted in knowing that even though I only knew my daughter for such a short time, we had something in common. If you have been affected by Fryn's Syndrome, you are welcome to contact me.
Written by Katie’s mom, Paula Yerger (Oklahoma)
2001
Katie was conceived in March 2000. We were extremely happy to learn we were expecting. Our oldest daughter, age 6 at the time, was excited to learn she would be having a brother or a sister. I had awful morning sickness. It wasn't just in the morning, it was morning, noon and night! I was sick for about 2 1/2 months. I hated the seasick feeling, but I loved knowing that it was a good sign of a healthy pregnancy.
At around my 3rd month, I started feeling uneasy. I was convinced that *something* was wrong. I expressed my concerns. My doctor assured me that everything was fine. I still couldn't shake my feelings. About my 4th month of pregnancy, I started feeling uncomfortable. I seemed to hurt more than I remembered with my first pregnancy. My family and I had gone on a quick family vacation to our favorite amusement part and I knew the walking was going to be tiresome, but several times during the day I would start hurting terribly, almost to the point it hurt to walk. I later realized that I could no longer feel when I had to use the bathroom. Emptying my bladder every hour or so would became my routine until I delivered Katie.
Shortly after we returned from our mini family vacation, I went in for an ultrasound. My husband was so excited to see her on the screen. It was confirmed that she was a girl! My husband was in awe when he saw her little heart, beating so strongly. The tech said everything looked good.
Looking back, I would have to say that there would have been 2 maybe three red flags: I insisted that I saw her *hand* clenched; she was laying on her other hand/arm; and the fact that even though she was an active baby, she seemed non-responsive to our pokes and prods to my belly, it would almost seem as if she was trying to run away from them. My OB confirmed that my ultrasound looked fine. There was no indication that she even had a CDH. He did mention that I had a mild case of placenta previa. Nothing was ever mentioned about this since.
Shortly after my ultrasound, around my 6th month, my husband and myself started to notice that I was getting big. I was big with my first daughter, but this time, I felt & looked bigger than normal. Even my OB commented how big I had become since my last visit. He didn't seem concerned about it. By the last 3 or 4 weeks of my pregnancy, I had to stop driving because I couldn't fit behind the wheel, nor could I sit comfortably to drive safely. It also hurt to walk. I couldn't get comfortable to sleep; I felt like I was a balloon and I was about to pop at any moment. I had strangers asking me if we were sure there was only one baby in there.
During the last week of my pregnancy, I saw records that indicated that I was measuring over 2 weeks larger than what I was. We took Katie 11 days early, making me 38 weeks pregnant, I remember reading a document that I was measuring at 41 weeks.
November 28 came very quickly. We arrived at the hospital for the scheduled c-section. I was prepped and wheeled down to the OR. I chose to be completely sedated for the procedure.
When I started to wake up in the recovery room, I just had that feeling that something wasn't right. Sure enough, when I started asking for my baby, the recovery room nurse told me that my baby was having problems breathing. My heart broke into about a million pieces. I remember thinking no, not again! My first daughter had some mild complications after her birth and I just couldn't handle going through this again. Unfortunately, that was nothing compared to what I was about to encounter.
I was back in my hospital room when the meds started to wear off. I remember asking for my baby and that I needed to see my baby. Immediately, people started telling me that they were working on her and that we'd know something soon.
I have to stop and mention that shortly after I had Katie, a nurse for some reason felt it was necessary to mention to me that I had an enormous amount of amniotic fluid. Had I known then what I know now, I would have insisted my doctor do a more extensive ultrasound.
Katie's doctor came in and started to tell us that she had a CDH. He was confident that it was a minor tear in her diaphragm, and that he was almost confident that her lungs were fully developed and that this was something that happened when she took her first breath. He life flighted her to Children's Mercy hospital in Kansas City, MO. There, we learned that she had, in addition to her CDH, several other anomalies, hence leading to the tentative diagnosis of Fryns Syndrome...we're still waiting confirmation through the autopsy report. We also learned that her lungs were not completely developed; in fact, one was almost nonexistent and the other was significantly under developed. Once we learned the severity of her medical condition, we decided to disconnect her life support November 29, 2000. Katie died in my arms.
She looked absolutely perfect. She was beautiful. It's so hard to understand why this happened to her. I never heard her cry, I never saw her open her eyes to look at me. Fryn’s Syndrome cannot be detected in an amnio because they have not found the DNA link yet; and as we're all too familiar with, detecting a CDH on an ultrasound is difficult. There are other anomalies that could be detected on an ultrasound if the tech is trained well and knows what to look for, but unfortunately the outcome doesn't change. Fryns Syndrome is a rare genetic disorder. Majority of the babies born with Fryn’s are stillborn, and the few that are born alive are on life support and will be mentally challenged.
My husband, my daughter and I sat and held Katie for a long time. Shortly afterward, my daughter dressed Katie and helped present her to our families. And, then shortly after that, they brought her back to me and I continued to hold her for several more hours. I stroked her little head, smelled her hair, patted her back and just rocked her. I told her how much I loved her and how much I wanted her. I sang to her, I looked at every inch of her body. I had to cram a lifetime into a few hours. I just held her. I sat there and cried for her, my tears spilled over her little head. I wanted to take her home with me so badly. I was her mamma, why couldn't I make everything all better. I just didn't understand. My husband and I held her and held each other, together we cried. It just wasn't supposed to happen that way.
We had Katie cremated and we brought her home. Katie's signature color is purple. It also happens to be my favorite color. When I see the color purple, I feel comforted in knowing that even though I only knew my daughter for such a short time, we had something in common. If you have been affected by Fryn's Syndrome, you are welcome to contact me.
Written by Katie’s mom, Paula Yerger (Oklahoma)
2001