So, I guess if going to do this I should start at the beginning. I suppose it would have been easier if I'd started blogging years ago. Never the less, here goes...
The first time we really realized there was a problem Alex was 7. It started with complaints of frequent severe headaches. When we really got her to articulate we realized that she actually had a headache, to some degree, 24/7. With the help of a great pediatrician and an awesome neurologist Alex was diagnosed with "chronic daily migraine". Over the next couple years we tried every migraine/headache remedy known to man. Daily meds, acute meds, injections and all. Some worked better than others, but nothing gave us resolution.
By the time Alex was 9 or 10 she started having G.I. issues as well. nausea, abdominal pain, vomiting, heartburn, reflux and diarrhea. Off we went to the pediatric GI doc. Scoping at that point revealed erosive esophagitis and more meds were started.
Around that same time Alex had a big weight gain, about 40lbs. in 3 months. After an afternoon chatting with friends I really started worrying about the weight gain. They knew how active Alex was and how little she ate, as well as how much I worry about my kids eating healthy. They pointed out to me that this just wasn't normal. I came home and 'googled' "unexplained weight gain". That was when I first learned about Cushing's Syndrome. Way back then I said to Brian "I would literally bet my life that this is what Alex has".
Off we went, back to the pediatrician, begging for a referral to an endocrinologist. No problem, but he was certain it couldn't be Cushing's, it's too rare. He ran the "gold standard" test for diagnosis, a 24 hour urine cortisol. It came back normal and he felt comfortable telling us she didn't have Cushing's, she was probably just unlucky and had a poor metabolism. Back and forth on this we went for a few years. He ran the same test yearly and it revealed nothing. He sent us to "healthy lifestyle classes", what a joke. By that time Alex could have been teaching the healthy lifestyle classes. At 10 or 12 she was learning calorie counts and reading fat content on everything she ate. The weight continued to accumulate even on low calorie diets. At one point she ate 1000 to 1500 calories a day, was exercising and still averaged a pound a week weight gain over 2 months of dieting.
Thank goodness for our great pediatrician who believed us! She used an analogy many Cushing's patients hate to hear, but for us it was reversed. In med school docs are told "if you hear hoof beats in Central Park it's probably a horse, don't look for zebras". Dr. Leong shared this analogy with us and then stated, "You are a zebra! And we are going to get this figured out." This was followed by more neurologists, more endocrinologists, two opthamologists, an OB/GYN, a psychologist, a hematologist, an acupuncturist, a chiropractor, biofeedback, pharmaceuticals, MRI's, CT's, ultrasounds, blood draws, urine collections, saliva collections, need I continue?
By the time Alex was 12 or 13 she was sick enough that she was unable to attend school on a regular basis. The headaches and GI issues were incapacitating and she had also started having vision problems, dizzy spells and "hot flashes". The school district put her on home/hospital stay and a tutor came to the house to work with her when she was able. At times the illness would seem to go in to a remission and Alex would return to school for brief stints with her peers.
In the spring of 2007 Alex saw an endocrinology "fellow" at Stanford University. As a last ditch effort before leaving, dismissed yet again, I pulled out my "before and after" pictures. We watched as the doctors chin dropped and she began back peddling. She suggested further testing for Cyclic Cushing's might be in order.
With her recommendation in hand I sent off an e-mail directly to the National Institutes of Health in Bethesda Maryland. To my complete and utter surprise I received a prompt response indicating they were willing to see Alex for evaluation. Of course there was a wait of 5 months before they could see her. Time crawled by as we waited and I put all my eggs in this basket. In November of 2007 we flew to Maryland for a week of inpatient evaluation. The experience was great, but once again we were sent away without a diagnosis.
With no where else to turn the next step for us was consulting the true wizards of pituitary surgery (Dr. Ian McCutcheon at MD Anderson Cancer Center in Texas) and Cyclic Cushing's (Dr. Theodore Friedman in Los Angeles). Dr. McC was ever so kind as to read Alex's MRI at no charge and give us his opinion and as far as Dr. F, well, out of pocket expenses skyrocketed, but what price can be placed on your child's health? Our last ditch efforts paid off and Alex was finally diagnosed!