Newborn Screening Family Stories

Harper's Story (SCAD)

At 30 weeks pregnant it was discovered that I had preeclampsia. A pretty severe case. I was sent to Nortons, in Louisville, KY to await the arrival of baby Harper. We thought she was going to have to come early due to complications with my diabetes and preeclampsia. My sugars were uncontrolled and my blood pressure was unpredictable. I held on for 6 more weeks.

The ordeal of being hospitalized the last 6 weeks was grueling; I was just ready to get this baby out so I could start being a mommy. I’m an Aunt of several, and I couldn’t wait to get the experiences that my sisters got with their children. Unfortunately, It didn’t work out that way for me.

Harper was born on December 31st 2010, New Years Eve. Me and Daddy were so ready, I lost a lot of blood during delivery, almost passed out and felt pretty ‘dead’ for awhile. My hemoglobin didn’t come up for several weeks. So, to say the least, I wasn’t feeling too well. But, I was ready to meet my little wonder.
Harper was 7lbs 2oz. Pretty hefty for being 4 weeks early. She was healthy, and we were happy. After being situated into a room they brought her to me. I got to feed her. She wasn’t much into breastfeeding, I tried my best, and pumped as much as I could, but she opted for the bottle.

Because I have diabetes, they came in to check her sugar, this is the first sugar check Harper has ever gotten. It was 28. They didn’t seem too concerned. They said that while she was in my tummy she relied on my glucose and insulin to control her sugars as well. So once she got out, it had to regulate itself. This was expected. After taking two of the little two ounce bottles, they came in to recheck her sugar. It was 30. They were getting a little concerned and said that she probably needed to go to the intermediate nursery (between the regular nursery and the NICU) for the night. Just to be safe. I was so weak and sick, I went to sleep, and waited to see her again.

Her sugars over the next five days finally regulated. After being in the intermediate nursery for 5 days, she got to come home. We were so happy. It seemed like those five days took forever. I couldn’t wait to get home and be a mommy, finally. Life was amazing for a couple days. I was still a little nervous about her sugars but knew it was because of my diabetes.

On January 8th, at around 1pm, I got a phone call. You know what I’m talking about. The call. I answer. “Mrs. Anthony, we were just calling to tell you that Harper tested positive for something on her Newborn Screening.” They go on to tell me there is nothing to worry about and that most of the time, these come back okay, and babies don’t even have the disorder. To be safe, they said to feed her every 3 hours.
I cried. For days. Weeks even. I wasn’t able to function, eat or sleep. I was useless. This is before it was even confirmed.

After a couple of tests, we waited, and finally found out that yes, she does have SCADD. We got into a geneticist office immediately and started treatment. Eat every 3-4 hours and take carnitine, and all should be well. At this point, I feel better. I feel like I know what to do, I can take care of my child now.
I couldn’t take care of her. Whatever was going on inside her body was out of my hands. It did what it wanted. We would feed her every 3 hours around the clock, we had multiple alarms set to feed her. We were ritualistic about the way she was being fed. And if someone thought we were crazy, well, it was certainly okay for them to go to hell. I was doing what needed to be done to keep her alive.

Harper had a lot of issues. We found out she had kidney reflux. Which wasn’t much of an issue in itself, but with the SCADD, if Harper were to get infections, we were in the hospital. Which seemed to be all the time. Out of Harper’s first year, four months of it was spent in the hospital. She was always at Kosairs. We’ve come to be regulars. They know our names, and they’re like family.

Harper’s sugars were crazy. They had a mind of their own. No matter what we did, her sugar seemed to want to drop. She would be on her normal schedule, eating great, acting fine, and her sugar would be in the fifties and sixties. She would be in the hospital for weeks at a time, waiting for her sugar to regulate. Eventually it would, and we would go home. We would be back in another week. This all happened so fast, we didn’t have time to be devastated. We only had time to feed, check sugars and wait.

I knew something wasn’t right. We’re doing what we’re told, and she’s sick. I expressed this many times. They said that the first year was usually the hardest and it would get better. But in my mind I thought ‘What if we’re asleep? The alarm doesn’t go off. What if we get a flat tire and it’s time for her to eat? We don’t have enough for another bottle.’ It was always what if.

When she was about 9 months old, she went a full week with her sugars not being above 70. She was eating and getting Dextrose 10, but her sugars weren’t following.

Her geneticist decided that he thought something else was going on. She was tested for hyperinsulinism, and a couple other endocrine disorders. They wanted to test her for Growth Hormone Deficiency. This meant a fasting blood test. And of course, we waited, and waited. They wanted her sugar at 50 before they would draw the blood. The one time when we WANTED her sugars to drop, they wouldn’t. She went 20 hours without eating, and finally, 50. Blood was drawn. They gave her a glucogen shot, and she perked up right away. This was the hardest thing I’ve done in my life. Waited. It’s not natural for a mother to let her child not eat, it felt wrong and abusive. I watched her deteriorate. Her eyes were glossy, but her sugar was 65. She was acting lethargic, but her sugar was 55. Finally, after ‘falling asleep’ her sugar reached 50.

The results came back, she had Growth Hormone Deficiency. GHD and SCADD are not usually extremely severe disorders. But together, they were killing my baby.

After two central lines due to frequent IVs and over 15 hospitalizations, Harper now has no cords coming out of her, and she is ‘normal.’ She takes her carnitine, and an injection of Human Growth Hormone daily and she’s healthy. Since being treated for GHD, she’s like a different child. She’s growing, and she’s happy. We’re happy.

I’m 22 years old. When I got married I couldn’t wait to have a child. People need to think about the child they’ll be having. It isn’t all fairy tales. Reality is that anyone can have a child with a disease. Luckily, we caught hers. The reason she is alive is because I didn’t give up. I drove myself, my body, my family, and the doctors crazy making sure my baby was safe. Now she is.

Erica Gibson
Leitchfield, KY
ericagibson2007@hotmail.com