I'm
writing this for the Invisible Illness Awareness week, in hopes of
maybe helping out someone who's struggling with undiagnosed symptoms.
After
years of searching for answers and being blown off by doctors, my
husband Billy was finally given a diagnosis of Gitelman's 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, he started noticing mild cramps in his hands.
He chalked it up to playing video games for too long or to his job.
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 for the
same disorder. As anyone with hypoglycemia knows, when you have an
attack, 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
nuts 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 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. This meant
stress over how we were gonna pay bills and eat, plus 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, 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 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
the hospital, 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
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, but about halfway there, 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 a
PCP and sent him with as much information as I could. 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
salt, 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.
