Rachel's Story
GA2
Rachel was born on June 21, 2001, and after having three boys, we were thrilled. She was perfectly healthy. The only thing out of the ordinary was that her blood sugar was low when they first checked it after birth, so they had me nurse her right away. They rechecked and it was still low, so they had me give her some formula. They probably checked her blood sugar 4 or 5 times that first hour after birth. When I questioned why, I was told that sometimes when babies go through the stress of labor, it causes low blood sugar. I didn’t think much of it then, but now I’m sure that it was because of the FOD. I was never informed of any other low blood sugars, so I assume that any other tests were fine.
The next three weeks passed without event. At her 2 week check up she got a glowing report. Then when Rachel was 3 weeks old, she refused to eat all night. It was the first time that she cried and I couldn’t figure out why. She cried from midnight till 1am before I got her to go to sleep. Throughout the night she woke up every 2 or 3 hours but wouldn’t eat. She was up just long enough to cry herself back to sleep. At 8 am I called the doctor because I feared that she could be dehydrating. The doctor said to wait a couple of hours and try to feed her again, but I figured that if she didn’t eat all night a couple of hours wasn’t going to make a difference. I knew something was wrong. I thought maybe an ear infection or virus. I asked if I could just bring her in. I got a 10 am appointment. When the doctor examined her, she said that her heart was beating fast and her breathing was fast (I found out later that her heart was beating so fast that the doctor couldn’t count it). She said that it could be pneumonia or some other infection.
She wanted me to take her right to the hospital, but I had my other 3 children with me. So I asked if it was OK to take them to a neighbor’s house first. They said that was fine, but that Rachel needed to stay with them at the doctors. That was my first clue that something was very wrong. I took the boys to the neighbors, and when I returned to pick her up, the doctor said to take her directly to the hospital because she was having trouble breathing. That scared me and I kept making sure she was breathing all the way there. I called my husband and he met me at the hospital.
When we got there, we went to admitting and went through the normal slow procedure. When we got to the pediatric treatment room, they started an IV. She got very upset, and started crying hard. The next thing we knew she was turning blue. The nurses administered oxygen, and within minutes she was being rushed to ICU. They got her stabilized, but her heart rate was in the 260’s. They did an EKG and an echocardiogram. We were told that there were structural abnormalities in her heart. They couldn’t tell us anything else till the cardiologist arrived. The intensivist then said that they needed to insert a central line. It took a while to insert. She was pretty much out of it at this point. She had so many needles and lines coming out of her, I didn’t know what to think. I just stood there watching and crying. At this point the nurses called the hospital chaplain and asked if there was anyone that they could call to be with us. I thought that they were preparing us because they thought that Rachel was going to die.
Finally the pediatric cardiologist arrived. He said that she had two holes in her heart, but that was not his biggest concern. Her heart rate was still in the 260’s and 270’s. He tried a number of things to get her heart rate down. First he put ice on her face, then medicine in her IV, but nothing worked. The last resort was the heart paddles. By this time our Pastor had arrived, and some friends from church. The doctor tried the paddles the first time, and they didn’t work. At this point we left the room and went to the waiting room to update our friends on Rachel’s condition, so that they could pray. While in the waiting room, our Pastor led us all in a word of prayer. When we got back to her room, her heart rate had come down. While we were gone, the doctor had doubled and then tripled the voltage. The third time worked! She was out of immediate danger, but her breathing was still very fast and labored. By this time, it was 7 or 8 in the evening.
By 10 or 11 pm everyone left, but I stayed with her and slept in the hospital. I was just falling asleep about 1 am, when they came in and said that they were going to put her on the ventilator. After that they wanted to start an arterial line. A doctor from the peds floor came in to see what was going on and ended up staying most of the night. He told me that Rachel probably had some sort of metabolic problem, because she should have been much better by then. They took a lot of blood to do tests. They called the intensivist to come in the middle of the night. They worked on her for hours, taking things from the crash cart. It was so scary. I called a friend and talked to her from about 2 to 3 am. She helped calm me down. It was 4 am and they were going to try one more time to get an arterial line in her. I was totally exhausted and finally went to sleep. They never got an arterial line in her even though they tried two more times over the next couple of days. Instead the doctor put in another central line.
Friday morning, I woke up and she was stabilized. It was so sad to look at her. She had so many IV’s, monitor wires, ventilator tubes and a catheter coming from her. I counted every line including all the tubing for the ventilator, and there were nineteen. They kept her pretty well sedated while she was on the ventilator. It was so sad to see her cry, because her mouth looked like it was screaming, but no sound came out. It made me cry every time I saw her “silent cry.”
That morning about 11 am, the geneticist, Dr. Asamoah, came to see her, and talked to me. He asked about everything that had happened, and took a family history. He suspected that she had a metabolic disease, and tried to explain what that was to me, but I was so exhausted and overwhelmed. I could not believe all that had transpired over the last 24 hours. She went from slightly dehydrated to critical condition in 24 hours. They also gave her a blood transfusion because her iron was low, from having so much blood drawn.
Over the next few days she gradually got better with some steps backward. On Saturday, they tried feeding her my breast milk through an NG tube, but her acid level went up so they switched to Pregestimil on the geneticist’s recommendation. Within a few days they started supplementing the Pregestimil with Moducal to help keep her blood sugar up. They checked her blood sugar every 3 hours from that point on. Monday morning, they took her off the ventilator and she did fine. I was finally able to hold her! Over the next week, they slowly weaned her off the glucose IV.
A week later, she was transferred to the regular peds floor. The geneticist came to see her again, and to explain again about metabolic diseases. This was the first time I learned that her low blood sugar was related to her metabolic problem. I had hoped to have a firm diagnosis by now, but not all of the tests had come back. He said that she probably had a disease where she wasn’t able to break down long chain fats.
We went home on Wednesday. The cardiologist diagnosed her with Wolf-Parkinson-White syndrome, and 2 VSD’s. She has not had any problems with her heart since her crises. I was so scared to bring her home. I had to check her blood sugar and feed her every three hours around the clock. She was not a good eater at the beginning, so I also had to learn how to place an NG tube. Thankfully, I never had to use it.
A week after we brought Rachel home from the hospital, we went to see Dr. Asamoah. He retook all the blood tests and took a skin sample for testing. He gave me a pamphlet of the FOD support group and once again explained everything to me. The test results came back at the beginning of November, and showed that Rachel has Glutaric Acidemia Type II.
Since then Rachel has done very well. She is now a good eater, and is in the 90th-95th percentile for height and weight. Developmentally she is exactly where she should be with motor skills and language. She has been hospitalized twice with the flu to get a glucose IV, but no major problems. She is on carnitine and riboflavin, and is on a low fat/low protein diet. I now check her blood sugar only once or twice a day. She is able to go 6 hours between feeds at night with cornstarch. I know that a big reason she is doing so well is that is was caught fairly early.
I thank the Lord every day for my little girl, and for all that He has helped her through. I am also thankful for a good geneticist. Dr. Asamoah is very good at explaining things to me and taking time to answer my many questions. He takes her FOD very seriously and is very cautious in her care. I am also thankful for the FOD support group. I have learned so much on the list and from all the information that Deb has sent me.
Jill and Brian Pendley