The Sabby Baby Story: CDGS and Us.
I'm Peggy Fumo-Sabby, mother of Amanda Ashley and Adam Michael Louis. Their father is Michael Sabby. Mike and I are not related. He is German and Norwegian while I am Italian and Polish. I was 28 years old when our first born Amanda was born. Mike was 29. Amanda was never diagnosed. Adam was diagnosed with CDGS in 1973.
|
|
Amanda at 6 Months of Age
|
|
During the pregnancies of both my children, there was little movement. I always thought it was because I put headphones on my tummy so they could hear soothing music as I sat at work. I wanted my children to be smart so I made plans on how to do this. I bought books I was going to read to them in the womb and at an early age. Music, the Arts, sports, education....etc. At the end of each pregnancy, I didn't have the big weight gain like you're supposed to have. My water didn't break for either of them. Both were long ( 28 and 26 hours) uneventful labors. Amanda was a vaginal delivery assisted with forceps. Adam was a C-section with both feet breach. I don't remember the scores, the colors. At Birth their weights and heights were the average for a girl and boy. What I remember, is the long labors, the fear, the doubt, the prayers and the relief.
Amanda Sabby
Amanda was born January 26, 1986 after a good 28 hours of labor on Super Bowl Sunday. The Bears had Jim Mc Mann and the "Refrigerator". I don't remember who they played but Amanda arrived minutes before the game. My husband Mike went home sick with bronchitis.
After her birth, she was put in an incubator under the liver light. I think I held her later that day for a few minutes. I spent the day alone with questions and no doctors until late that night when the pediatrician came in to talk to me. Her white blood cell count was ridiculously high. I believe they though internal bleeding and or infection. Amanda was thought to be having seizures and they put her on Phenobarbital right away. She also didn't look "right" physically. She had fat pads in odd spots that looked like cellulite. Her skin was very pale and marbled. The veins were very prominent. She had unusually long fingers and feet. She was scrunched in the fetal position. Her muscles were tight. Picture a little puppy sitting up begging. That best describes the position she maintained. She could straighten out a little when lying on her tummy. Now take every thing I just told and put Adam's name instead of Amanda's. From birth, both my children looked "different" and the blood counts and liver functions not in normal range. Looking back, both children matched the symptoms listed in the article "Early Manifestations of Carbohydrate-Deficient Glycoprotein Syndrome" by Doctor Helena Stibler, etc. which came out in 1993.
Amanda went from West Allis Hospital to Children's Hospital in Milwaukee because they were the specialists on children. From the start she had feeding difficulties. Poor suck, no interest in eating and projectile vomiting after eating. After a few tests and a few doctors visiting us, we went home after several weeks. She didn't cry when she should have been hungry. So I scheduled her meals. Three ounces took one hour. After two hours, feeding would begin and last about one hour. Formula usually came right back up so I started all over. As a new mother, seeing her vomit clear across the room scarred me. I took a six-month leave from work. (Back then, there wasn't the "maternity leave act" which protected moms from losing their job while they stayed home with a sick child.) I was constantly on the phone with her pediatrician. I took her from doctor to doctor as prescribed by the pediatrician. Still no answers. We went back and forth to doctors trying to diagnose her, trying to understand the unusual blood levels, trying to stop ear infections, trying to gain weight.
When the six months were up, I tried to get as close to normal as I could. Amanda was enrolled in a "Birth to Three" program which would pay for physical, occupational and speech therapy. The program provided a day care so she was there 8 hours. I went back to work. The vomiting didn't stop. She was not gaining weight. The pediatrician suggested Children's because they had feeding specialists that would help. She received an
N. G., tube, it went into the small intestine from out the nose. By passing through the stomach, it was thought that she would get nutrition and stop vomiting. It didn't work. We were going in and out of the hospital.
During the hospitalizations, she was observed, poked and inspected by every doctor, geneticists, neurologist, hematologists, liver doctor, brain specialist, therapist, on and on. Our undiagnosed child had the liver of an alcoholic, missing most of the cerebellum, projectile vomited up to three hours after eating which means the food didn't get to the stomach. She would not suck, had a tube down her nose for feedings, had test after test done, but no answers. She received the DPT shot that caused fever. I later found out that persons with neurological problems shouldn't get the P of DPT.
Next step, G-tube and Nissen, or tying of the muscle before the stomach to help opening and shutting the muscle properly. My regret is talking Mike into letting them do a Nissen and G-tube. During these procedures "something was nicked" and fluid flooded the lungs. This was the start of the end.
Amanda lived one year and twenty-six days, cause of death renal failure. However, that was a nice, short description. Her liver continued to grow and harden despite the Hyper-Al (sp) and effort to get nutrition into her. What eventually happened is that the liver grew tremendously huge and pressed on the other organs probably suffocating her. She spent every holiday except for Easter in the hospital. I don't remember what month, or how far before she died but for some reason we were going to take her home. I remember changing her diaper and seeing it covered in brown speckles. I brought this to the attention of the nurse on duty. Nothing. We went home. Amanda stopped breathing. The spots in her diaper were blood. She was bleeding internally. Mike and my eldest sister drove Amanda to the nearest hospital. Amanda was brought back to life but in a coma. Looking back she couldn't die at this time because I wasn't ready. So, she hung on and even came out of the coma. We taped my voice, Mike's voice, my parents' and sister's voices. We put headphones on her ears and played this tape constantly as we sat by her side and stroked her head underneath all the tubes attached to her. She came out of the coma. I spent my time reading the bible to her and myself. I don't remember how long from the coma until she died. But, I believe that Amanda did not die because I was not ready for her death. And when she near death, I whispered in her ear "it's okay Amanda, mommy's ready. " That was February 21, 1987.
Although Amanda was not diagnosed before or after death, Doctor Mark Lubinsky of Children's Hospital in Milwaukee, Wisconsin reviewed her file. He said she was most likely another child with CDGS.