Support for Those Living with Adrenal Insufficiency

Gabe’s Birthday in the Hospital

By Cheryl Kornegay
Gabe_at_Duke_1Gabriel had never had a real birthday party before. For the past nine years, we had small gatherings with grandparents, aunts, and uncles, but had just never managed to have a big party with all of his friends. This year was special. This year was double digits, the big one-oh, TEN! This year, we had to celebrate his special day in a big way. Gabe decided that he wanted to have a rock climbing party at a local rock gym with friends from school and the neighborhood. It would be Saturday evening, the day before his birthday.  In the days leading up to his birthday, it was almost all he could talk about. He checked our bags to make sure we had our gear, he set out his special climbing shoes, he talked and talked about how much fun they would all have. I had decided to surprise him by making a climbing wall cake topper for his German chocolate cake out of rice crispy treats and fondant.  I am notoriously bad at cake decorating, so the only thing I was worried about was whether the cake would look presentable and remembering to get the gym waivers signed by the other parents.  Gabe never got to have the party. That weekend, our lives changed forever. Instead of climbing with friends, Gabe spent his birthday in a hospital bed. By the end of the month, he had been diagnosed with a rare, degenerative genetic disease called Adrenoleukodystrophy.

It all started with a phone call, as so many things do. It was the end of the day and Gabriel should have been boarding the bus. To be honest, when I saw the school name pop up on the caller ID, I thought about not answering. This time of day, I was certain that it was yet another phone call from one of his teachers to complain that Gabe had forgotten his homework, or had bunny hopped the whole way to his seat, or had thrown erasers at another student, or had said something inappropriate, or hadn’t bothered to read the questions on a test and so had missed so many answers that we all knew he knew. Gabe is a bright, kind, funny, fun-loving child with so much potential, but his behavior in school was becoming increasingly disruptive.  We’d tried everything: punishment, reward systems, bribery, ADHD medications, counseling, but nothing seemed to help. Gabe was having more and more difficulty focusing and staying on task. I was getting so tired and frustrated with the growing number of phone calls that I’d begun to develop avoidant behavior. Just let the machine pick up, I thought. Then, I could listen to the message, decide how I wanted to respond, and return their call later. Maybe.

So, it was with great trepidation that I answered the phone. I’m glad I did. The personnel on the other end had called to tell me that the Gabe was throwing up, so the principal had pulled him off the bus. I hurried to the school to pick him up and he promptly projectile vomited all over the back of the car.

The next afternoon, Gabe was feeling bad enough to ask us to cancel his party. We knew, without a doubt, that he was really sick. It was February 2, the peak of flu season. I started to get worried when, later in the day, the vomiting became serious. By bed time, he wasn’t holding much down and I starting proposing that we take him to the ER. I should probably say at this point that I was a new EMT. There’s a phenomena among people who study medicine colloquially called “med student syndrome.”  It’s when people who study medicine become convinced that they or someone else has the symptoms of a disease they are learning about. So, my husband and I worried that I was over-reacting, seeing things as worse than they were. Kids got the flu all the time; maybe I should just wait until Monday and take him to the pediatrician. Dehydration was a real concern, though; he absolutely couldn’t keep on vomiting. I gave him some ondansetron, an anti-nausea medication, and kept pushing fluids on him. We decided that if he threw up again, we’d go to the ER. We made him sleep in our room so that we could keep watch over him. Unfortunately, though, Gabe didn’t want to wake us and so we didn’t know that the ondansetron didn’t help and he was up all night vomiting!

The next morning at breakfast, thinking it had been a good night and Gabe was on the mend, my husband implored him to eat a piece of toast. He began to get frustrated when Gabe seemed to refuse to eat. He just held the toast in his hand and only every now and then, after a lot of prompting, brought it to his lips and took a bite. Something was seriously wrong. I pulled Cutler into the bathroom, out of earshot of the children.

Gabe_at_Duke_2“I don’t think he’s ignoring you,” I said, “I don’t think he can obey. That’s an altered mental status. He needs to go to the ER right now.”  I loaded him into the car and left for the hospital, which was only a couple of miles away. By the time we got there, Gabe’s appearance had changed drastically. His whole body seemed to have sunken and shrunk, his blue eyes stared, glazed, out of a face that suddenly looked skeletal. I was frightened! We were taken back almost immediately – I think “altered mental status” might have been the magic words. Gabe’s blood sugar was in the thirties and his kidneys had begun to shut down. In addition to boluses of fluids, they gave him dextrose to bring his blood sugar back up. After the first dose, Gabe asked me why there were “two stop signs.” When I asked what he meant, he pointed to a sign above my head with a little red stop sign that read: “Stop. Call, don’t fall.” I asked him where the other stop sign was and he told me “beside it.”

I held up two fingers. Gabe got the number of fingers right, but not the number of hands. I hit the call bell and asked the person that answered to send a nurse because Gabe had developed double vision. After the second dextrose, his vision returned to normal. Every one suspected that Gabe had the flu, but that scary word “meningitis” popped up. They decided to hold off on a spinal tap, but to go ahead and start Tamiflu. Gabe improved rapidly with the administration of fluids and the bounce-back of his blood glucose, but they still wanted to keep a close eye on him. Early that evening, he was admitted to a pediatric step-down unit under contact precautions for suspected flu.

When the step down unit staff found out that it was Gabe’s tenth birthday, they gave him a Duke basketball and a Nerf gun. They had no way of knowing that these would be perfect gifts for Gabe. Their kindness touched our hearts and we will be forever grateful. I went down to the cafeteria and got slices of German Chocolate cake. We had a tiny celebration in his hospital room and, though I was disappointed that he didn’t get to have his big party, I was mostly just thankful that my little boy was okay.

Gabe’s flu swab was negative. After a few days, they decided that we may never know what originally caused him to get sick, but that they would be releasing us with a diagnosis of ketotic hypoglycemia – a condition that means that one starves much more quickly than others and can’t go as long without eating. The doctors thought that when Gabe started throwing up, his body went into starvation mode and his blood sugar crashed. It made a certain amount of sense; Gabe had always been tiny for his age, perpetually underweight, and very short. He was always hungry and stashed snacks all over the place; we constant found wrappers hidden around the house. Despite his appetite and constant snacking, he never filled out. We were sent home with a glucometer and dietary instructions. Before we left, the pediatric endocrinology team paid us a visit. His cortisol levels had been low, they said, especially since he had been so sick. When they asked if Gabe looked tan to me, I laughed.  Of course he did! Gabe had always had a golden glow and, unlike the rest of us with ghostly complexions, he never burns. “I guess he got the good genes!” I had joked. If only I had known that it would prove to be the exact opposite. They told us that they were going to run some more labs, but not to be too concerned. It was probably nothing. However, the tan and low cortisol raised a flag.
The next day, I got a call from the pediatric endocrinologist. Gabe’s cortisol levels were low, but his ACTH, his pituitary hormone, was through the roof; literally off the charts. Where a normal, healthy person’s levels may be 15 to 66 unstressed, and a sick person’s might be as high as 200, Gabe’s were over 2,000. She said that the pituitary and adrenal glands work in a circuit and that this meant that something was going on with his adrenal glands. His pituitary was screaming at his adrenals to work, but the adrenals were barely responding. The most likely cause was Addison’s disease, but it could be a number of more rare conditions. I brought him in for blood tests and listened to her tick off the possibilities. There was one that she didn’t explain. Something with a really long name that she just glossed over, giving me the distinct impression that it was something scary. I forgot what it was; it was so rare, anyway, she’d said. He was diagnosed again, this time with Primary Adrenal Insufficiency.

I started reading everything I could about Addison’s Disease, Congenital Adrenal Hyperplasia, and anything else associated with Adrenal Insufficiency. As I read the symptom lists and disease prognosis of each one, I kept thinking ‘well, maybe…but this doesn’t really fit. This doesn’t sound like Gabe.’ I was at work when I remembered that there was another one. Something hard to pronounce. It didn’t take me long to find a full list of conditions associated with Adrenal Insufficiency and, at work, while my one and only patient slept soundly, I found the forgettable one she’d glossed over: Adrenoleukodystrophy. As I read the symptoms, I realized I’d found it. Progressively worsening ADHD symptoms that were unresponsive to medication, adrenal insufficiency, tan skin, weight loss, behavioral changes, clumsiness…  I looked up the symptoms on other sites, cross-referenced everything. This was Gabe.  And as I read the outcome and what this horrible disease does, I began to cry. And cry. And cry.

Thank God that my patient slept all night. I sat in a dark corner struggling to keep it together, praying, that it wouldn’t be this disease, terrified and already convinced that it was. I sent an email to my  mother, my mother in law, my sister, my husband, my best friend…probably to anyone who might be awake and could virtually hold my hand through that first tough night.  According to what I was reading, Gabe was right in the diagnostic age range for his form of ALD to be the worst form: childhood cerebral type, a phenotype that often quickly leads to a vegetative state and death.  If we were lucky, he’d only have the Adrenal Insufficiency and his brain and nerves would be unaffected. In this light, the Adrenal Insufficiency, a condition itself that is life-threatening, didn’t sound so bad. I prayed with all of my might that if it HAD to be ALD, please, God, let it only be the type that destroyed his adrenals, not the kind that would destroy his brain, too.

The days one spends waiting for test results are so hard. All you can do is hope and pray and try not to let your children or work colleagues see you cry. On February 21, Gabe’s endocrinologist called with shattering news. She told us that she was so very sorry, but Gabe’s VLCFA test came back positive for ALD. I tried to swallow back the sobs as I talked to her; my voice shook. Dr. Hart-Unger comforted me and talked about where to go from here.

electrodesI’m the type of person for whom knowledge imparts some feeling of control over the situation, so I went about learning as much as I could. ALD is an x-linked genetic disease that can remain hidden in families indefinitely and is transmitted to boys by a carrier mother (though about 5% of boys are the first person in their family with the mutation).  Because women have a healthy X chromosome to compensate for the mutated one, they usually display no symptoms or only mild symptoms. In boys, especially when the diagnosis is made in children between 4 and 10, it is often disastrous. ALD is an inability of the body to break down very-long-chain-fatty-acids (VLCFA), which both occur in food and are made by the body, so the VLCFAs build up and damage the adrenal glands and the myelin sheath of the brain, spinal cord, and nerves. There is an Addison’s Only form in which the VLCFAs only harm the adrenal glands. In the next form, referred to as Adrenomyeloneurpoathy (AMN), the VLCFAs damage the adrenals and the peripheral nerves and spinal cord, but don’t “attack” the brain. These are more often diagnosed in adults. In the childhood cerebral form, the VLCFAs damage the myelin of the brain, leading to a vegetative state and death in 2 to 10 years without a successful bone marrow transplant, which is only an option for boys in the very early stages of the disease. Lorenzo’s Oil can help delay symptom in boys in early stages of ALD. However, the oil is not yet FDA approved and is only available through limited study trials. Due to lack of funding, there are not currently studies in the U.S. that will accept my son. There are studies being conducted to find other treatments, and bone marrow transplant for certain boys can halt progression, but as of now there is no cure for ALD.

The weeks and months since February 21 have been a whirlwind of information and doctor visits. Gabe had many diagnostic tests to determine the state of his brain and nerves. He had three VLCFA tests followed by genetic testing to verify the diagnosis of ALD. We have been blessed; so far, Gabe’s MRIs are clear and the only damage that this horrible disease has caused are the destruction of his adrenal glands and some minor damage to his left optic nerve that causes slowing of the optic pathway. It has been a learning curve to help school, friends, and family learn how to help him, what to watch for, and what to do in an emergency. Gabe takes hydrocortisone every day to keep him from having another, potentially fatal, adrenal crisis. We keep emergency doses of Solu-Cortef to administer as an injection if he becomes ill or is injured. He has monthly blood work to check on his cortisol and ACTH levels to be sure that his medicine is working. Every 3 months, he has an MRI to make sure that there are no lesions. Gabe’s sister has been tested to see if she is a carrier and a bone marrow match for Gabe. The early results suggest that she is a match for him and if any new cerebral activity develops, they will move forward immediately with a bone marrow transplant.

All we can do is keep going, keep praying, and love each other as hard as we can. We don’t know what tomorrow will bring and, sometimes the uncertainty and fear can feel so bleak. But, then, we pick ourselves back up and remember that there is always hope. One day, there will be a cure. Until then, the best we can do is appreciate every moment that we have together, take nothing for granted, and take it one step at a time.

To Learn more about ALD please follow these links.

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