The story of Toni
After years of searching for answers and being blown off by doctors, my husband Billy was finally given a diagnosis of Gitelman Syndrome in June 2011.
His very first clue that something may be wrong came from an incident when he was in 3rd grade.
He passed out during P.E. class, so his mom took him to the doctor. The doctor, without doing any actual testing, diagnosed him as hypoglycemic. He never had another major incident during childhood after that…he would just feel a little weak from time to time and then feel better after eating, much like someone with a mild case of hypoglycemia. When he hit his teenage years and young adulthood, he started noticing mild cramps in his hands. He chalked it up to playing video games for too long or to his job as an electrician.
In January 2002, at 21 years of age, he was hospitalized with pneumonia, and it was discovered that he was EXTREMELY low on potassium. The doctor gave him potassium via IV, but his body refused to hold it. In order to get the potassium to stick, he was also given magnesium. Nobody thought it was that unusual at the time that his potassium and magnesium were so low, as he had been severely sick from the pneumonia for several days – barely alive when his brother finally admitted him to the hospital.
Billy and I got married in May 2004, and as someone who has mild hypoglycemia myself, I thought his symptoms were very unusual. As anyone with hypoglycemia knows, when your blood sugar starts getting low, you may get cranky, may not be able to think 100% straight, may feel a little nauseous, but the symptoms go away pretty much as soon as you eat something with a little sugar or carbs. His symptoms were completely different, though. His hands and feet would start cramping, then start drawing up like a dying junebug. The cramping and pain would work its way up his arms and legs, and sometimes even his eyelids would twitch and his speech would become slurred. Still, I did my best to treat it as hypoglycemia, feeding him fruits and peanut butter when he had an attack.
I knew about his prior hospitalization, so after witnessing a few of these attacks, I started googling his symptoms. It wasn’t too long before I figured out that his symptoms were actually the effect of too little potassium and not because of low blood sugar.
Our life went on, and we became parents and moved from rural Pink, OK to the greater OKC area. We dealt with his symptoms as they came, treating him with over-the-counter Potassium supplements and making sure he ate 3 proper meals a day. In December 2008, the electrical company he’d been working for went under, and although he was able to find work the very next day, his previous job didn’t pay their employees for their last 2 weeks of work, and then it was another 2 weeks before he got his first check from the new job. We went a full month without income, which meant stress over how we were gonna pay bills and eat. We ran out of food very quickly and had to take advantage of various churches and other charities. Billy, being the good man he is, didn’t want to take food out of his family’s mouth, so he ate very, very little during that time. The stress, plus him not eating, meant he got VERY sick VERY quickly. A few days before Christmas that year, he had a massive attack in the living room floor. He had been feeling increasingly sicker over the the course of that few weeks (although he hid it from me fairly well), and it hit him all at once. He was in so much pain that he was actually shrieking – it reminded me of a dying animal – and I couldn’t get him into the car to drive him to the hospital. I called 911 and had them send an ambulance. I told the paramedics that I thought his potassium was low. They asked Billy how much alcohol he’d had to drink. I told them that he not only hadn’t been drinking, but had NEVER so much as TASTED a beer (we’re tee-totallers/straight edge). Instead of listening to me and trying to be helpful, one of them rolled his eyes at me, asked Billy again how much he’d had to drink, and then told him to “stop being belligerent” when all he could do was scream in pain instead of answer his question.
He was once again given IV’s of potassium and magnesium, and his doctor in the ER pulled me aside and told me that he had been going into cardiac arrest when he’d arrived at the hospital. But still, nobody had any answers for WHY his potassium had been so low. Billy was in ICU for 5 days, and was let out the day before Christmas Eve. Our gift that year was his life and health.
We didn’t have insurance for him to see a doctor for quite a while after that, so I just continued buying over-the-counter potassium supplements and having him take them every day. That served him pretty well for the next 2 1/2 years, but he still had days where he’d have to take 10, 15 potassium pills 2 or 3 times a day just to stop the muscle cramps. And even at that, I could just tell he never felt 100%. He was short-fused and cranky quite a bit, and was always fatigued. He would come home from work, eat dinner, and then fall asleep on the couch at 6:30 or so. I would wake him up to come to bed at 10:30, where he’d sleep straight on through ’til 6:00 the next morning, when he got up for work. Weekends, he would sometimes sleep a combined 15 to 18 hours each day with 12 or 13 solid hours at night and at least a couple of naps during the day.
In May of 2011, as the triple-digit heat of that record-breaking summer started creeping in, I noticed that he had been getting symptoms again on a regular basis. One day in the middle of the month, he started feeling especially bad. Because we had again moved to a rural area 45 minutes away from any major city, I told him I thought we should go ahead and head towards the hospital. I took his OTC potassium pills with us, plus a couple of bottles of Gatorade. But the pills weren’t helping, and at about the halfway point, which is also right near my mom’s house, he wanted me to call an ambulance. He didn’t think he could make it in the car…he was having pains in his chest and thought he was going to have a heart attack. He kept telling me that he’d always loved me, that me and Faye were the lights of his life, and that he had a life insurance policy through his work. He honesty thought he was going to die in that car. I pulled up to my parents’ house, and Dad and I helped him out of the car and into the shade as Mom took Faye inside to keep her from seeing her daddy in that condition. My dad then ran down to the highway to wait for the ambulance while I watched helplessly as my husband writhed in pain in the grass. The ambulance finally arrived and loaded him up, but about halfway to our destination, I guess the pills started working, because Billy started feeling better. By the time we got to the hospital, he was…fine. Not 100% fine, no – he was sore all over from the muscle spasms and wanted to go to sleep – but fine enough that the ER doctor thought by “severe muscle spasms,” we meant the kind you get from running a couple of miles or lifting heavy boxes at work. He gave Billy a prescription for a muscle relaxer, told him to take some Ibuprofen, and sent us on our way. He acted like we were wasting his time, going to the ER for something as silly as a little muscle pain. I was glad my husband was feeling better, but EXTREMELY disappointed that we’d been brushed off so easily.
At that point, he and I together REALLY started researching his symptoms and came up with a few disorders that looked like they described him – especially Gitelman’s Syndrome. I made him an appointment with his PCP and sent him with as much information as I could. He and I wrote out his family history (he has a sister with Lupus and a niece who was born needing a kidney transplant), his personal medical history, and everything we’d learned about Gitelman’s. His doctor told him he was glad we’d done that, because he never would have thought about Gitelman’s. He referred him to a nephrologist, who did all sorts of blood and urine tests on him, and in June of that year, was FINALLY given a diagnosis. This doctor told him that statistically, he’s one of only 5 people in the state with his disorder…but to his knowledge, Billy is the ONLY person in Oklahoma currently diagnosed with Gitelman’s Syndrome.
Since then, Billy’s been on super high doses of potassium, magnesium, and a K-sparing diuretic, he has a doctor-ordered high sodium diet, and his health has COMPLETELY turned around! He still has days where his muscles cramp up a bit, and occasionally he’ll need a little extra sleep, but for the most part, he’s healthy again. He goes back to the doctor every few months to make sure his levels are normal, and he’ll ALWAYS have to have regular checkups and testing to make sure everything’s working out, but he should live a more or less perfectly normal life now.