Living with a Child Who Has a Medical Disorder

In late October 2006 Kaylee Ott was diagnosed with Hyperinsulinism, a genetic disorder that causes the pancreas to produce too much Insulin. Increased insulin production can lead to low blood glucose levels, which causes seizures, brain damage and sometimes death. As parents we were surprised by the diagnosis because for four months we'd been told she was healthy but after the diagnosis it was realized that in fact she'd been sick her entire life.
Kaylee was born in June 2006 at 37 weeks gestation, which is considered full term. She was 8 pounds, 13 ounces and 21 inches long. The doctors were all surprised at her weight and decided that I must have had Gestational Diabetes even though I'd passed all the tests for Gestational Diabetes. Right after birth Kaylee had issues maintaining appropriate blood glucose levels. For a normal persons blood glucose level should be between 70 - 100 mg/dL with anything below 60 mg/dL being considered low although typically people don't show symptoms unless lower than 50 mg/dL. At birth Kaylee was below 10 mg/dL, which meant she had to be put on an IV and a Dextrose drip. Dextrose is also known as glucose and this is our primary source of energy in the body. It's given through an IV to bring up blood glucose levels to a normal range. Kaylee gradually came up to normal but never officially was within the 70-100 mg/dL range. When she left the hospital three days after her birth her blood glucose levels were in the 50 mg/dL range.

Upon discharge the doctor's said that her levels would normalize and not to worry because this was typical for babies who's mothers had Gestational Diabetes. We returned to the doctor's office for level checks two days after discharge as well as two weeks after discharge. Each time her levels weren't normal but they weren't so low as to cause concern. After the two-week check up with the doctor she was no longer tested for her blood glucose levels.

As first time parents we depended on the doctors to tell us if anything was wrong and at her two and four month check ups the doctors said everything was fine and that she was on track for weight, height and development. But clearly everything was not fine. We don't blame our pediatrician for not knowing though because Kaylee's symptoms weren't so abnormal that he could not catch them, nor did we as parents catch them. Her symptoms were that she was eating six ounces of formula every four hours when typically children who are four months old eat four to five ounces every three to four hours. Kaylee also slept through the night at eight weeks old and took three to four two hour naps a day. Once again this didn't raise any alarm in either the doctor or us because all babies are different and we just figured we had a calm tempered baby. Other things that we didn't notice were that she wasn't lifting her head during tummy time nor had she begun to roll over or sit on her own. Once again we thought every baby has its own pace and thought nothing of it.

About a week after Kaylee's four-month check up she had her first seizure. I of course was completely scared about the seizure and called the doctor immediately. He stated that it was probably a febrile seizure, which can happen with infants due to fever. Although Kaylee had no fever the doctor felt that she might in fact have had a fever and that brought on the seizure. He said not to worry and call back if she had another. Two weeks later she did have another but it occurred in the same manner as the previous seizure so once again it was assumed it was a febrile seizure.

It was a week later where Kaylee had another seizure that was worse than the other two and totally different. She seized for nearly 5 minutes where she was completely unresponsive. After the shaking stopped she continued to mildly seize and couldn't turn her head and was stiff. She also was unresponsive to our voices and her eyes would dart back and forth. This time the seizure was witnessed by most of my family and we all agreed that she needed to see the doctor right away.

At the doctors office Kaylee acted completely normal and the doctor was as confused as I was as to the reason for the seizures. I suggested testing her blood glucose levels because I had remembered that she had issues at birth and looked up online about seizures and found that low blood glucose levels can cause seizures. Although my doctor thought it was unlikely he agreed to test her and her blood glucose level was 33 mg/dL. The doctor was surprised and thought that the testing device had to be broken and sent us to the blood lab at the hospital for a more sensitive test. They drew her blood and sent us home to wait for the call from the doctor.

The doctor called two hours later and said that Kaylee's blood glucose level was 23 mg/dL at the lab and that he was going to call a doctor at Children's Hospital of Los Angeles and find out what we needed to do. About an hour later he called back and asked us to take Kaylee to the emergency room to be put on Dextrose and then be transferred to CHLA to be treated there.

We arrived at the ER and they started the IV and attempted to stabilize her. We spent five hours trying to bring her numbers up and it took two shots of Glucagon, which is a drug that causes the liver to release sugars into the body to help bring up blood glucose levels, before they could transport her to CHLA.
At CHLA they stabilized her and put her on medication to stop her pancreas from producing insulin. After nine days in the hospital she was sent home. This is when the worrying began.

With a child who has Hyperinsulinism, schedules are most important. Kaylee has a medication schedule she has to abide by. She has to take two medications, Diazoxide to stop Insulin production and Diuril to help with water retention, which is a side effect of the Diazoxide. She takes Diazoxide three times a day to maintain her levels. She takes the Diuril twice a day to keep the water weight off. As a result of the Diazoxide she has excessive hair growth as well, which doesn't bother her at the moment. We do remove the hair on her legs with hair removal creams but we leave the hair that's on her back, arms and butt. Although this is mainly bothersome to me as a parent and purely for cosmetic reasons, as she gets older children will begin to notice her extra hair and I plan to protect her from being teased by removing the offending hair from her body.

Kaylee is also on a strict eating schedule. When she gets older she'll also be on a strict diet but right now she's on a strict schedule for eating. She eats three times a day with snack in between. She eats at the same time each day to maintain her blood glucose levels. We have to watch how much protein she eats because it can counteract the carbohydrates she eats and cause low blood glucose levels. She has to eat a certain amount of food and also drink a certain amount of fluids to help keep her levels up.

As well to medication and food we have to make sure Kaylee doesn't get sick. Even a simple cold can cause problems with her blood sugar. We especially have to be careful of the stomach flu or any sickness that may result in her vomiting because that causes her to have extreme lows and can result in a hospital stay for her.

Because of those concerns I've decided to home school Kaylee in the hopes that I won't have to worry about her while she's away at school. Maintaining her blood sugar levels requires constant attention and I don't believe public schools can provide her with the attention she needs. I'm currently getting my degree in Early Childhood Development so I can properly teach her when the time comes.

Also we have to watch for developmental and cognitive delays due to her disorder. She was developmentally behind by about a month up until her first birthday but she has now caught up. Cognitively we believe she is fine and she didn't have any brain damage due to the seizures she had. But the effects won't fully be known until she enters school.

Overall I'm grateful that we found out what was wrong with Kaylee and she's being treated and that she has a mild case of Hyperinsulinism. Many children with this disorder need surgery to remove the pancreas or are on feeding tubes for constant feeding to maintain their levels. She still has the disorder but because it's mild we've been able to lead a relatively normal life, even though I'm constantly worried about her. The scheduling and food worries may be bothersome sometimes, but in the end it's what has to be done to keep Kaylee happy and healthy.

For more information on Hyperinsulinism please visit Children's Hospital of Philadelphia, the leading research hospital on Hyperinsulinism in the nation.