Fast Forward? A New Surgeon

The wait has been killing me. No doubt I mentioned this before, but Dr. Duh can't even see us till 3 weeks from today and who knows how long after that till he has time for the actual surgery. When I spoke to his office weeks ago they said he was scheduling surgeries in June. Does that mean by the time we see him and are allowed to schedule he won't have openings till July? August?

The night before last Alex was literally crying herself to sleep. I hate that I can't do anything, it is so frustrating as a mom to watch your child in pain (and depressed) and not be able to do anything but tell them to wait it out. Anyway, I had a talk with God that night and told him I didn't think I could do this much longer and needed some divine intervention. When I woke up the next morning (yesterday) I was feeling inspired to do something about it and I sent a quick email to Stanford University asking if they had anyone with experience in laparascopic BLA. A surgeon, Dr. Visser, called me within hours and left a message, and also replied to the email saying he would get in touch.

Last night he called, with apologies for not getting hold of me sooner! Okay, I love this guy already! He is young and not an endocrine surgeon, but those are both things I can live with. He says he does an adrenalectomy every other week and has about 50 under his belt. He did explain that he is young and has done fewer (obviously) than the surgeons who have been doing it for decades. He trained at UCSF and considers Dr. Duh a mentor. He has extensive skills in laparascopic surgery and has never had to convert a lap surgery to an open surgery. The really exciting part? We now have an appointment to see him a week from today! He says he will get Alex in for surgery quickly after that if we are interested. Most of his patients are cancer patients and don't have the luxury of waiting, so he gets them in quickly.

So, for today it feels like my prayers were answered. I think Alex and I were both a bit shell shocked last night. It seems scary now that surgery might be a reality in the near future.

Radiation? Where did this come from?

I will never get used to e-mails from doctors. Somehow it's just seems wrong to find life altering information waiting between the Viagra ads and lottery winner notifications in my inbox. Last week I heard from Dr. McC and forwarded the message (see my last post) to Dr. Friedman, today I received his response to it.

Interesting
I would vote for repeat pit surgery, if its not too late, if she goes for bla, I would probably do radiation therapy to those spots

How do I respond to this one? I was feeling quite comfortable with my decision; now I'm second guessing again. What is he thinking here? Is he considering this a fast growing tumor? I thought those were the only ones that needed radiation. Guess it's time to do some more research on that. At this point I suppose I should think about the very real possibility that although we are looking at a 99% cure rate from Cushing's with BLA, it doesn't mean the war is over.

The headaches are back. That's a biggy for me. If only we could tell whether the cause of the headaches is fluctuating cortisol levels or "mass effect" of the tumor. All the docs have told me that a little tumor like these are couldn't be causing the headaches, only the cortisol issues could do that. Still I wonder. I will be kicking myself if we do the BLA and the headaches stay. How hard will it be to convince the neurosurgeon to go back in then?

The latest from Dr. McC

In the beginning of January I sent Dr. McC (neurosurgeon) a disk with Alex's 6 month post op MRI, asking for his opinion. This man is a Godsend! I find it unbelievable that a surgeon is willing to look over an MRI, sent from out of state, and give his thoughts on it at no charge whatsoever. In our case this is the 3rd time he has offered his services. Today I received his response.

Dear Mrs. Bibby,
I have looked at the disc you sent, and at the report. I again think there is still some decreased signal in the right half of the gland, which was what I saw on the earlier scan but with less certainty. It doesn’t have sharp margins on its medial side, so might be hyperplasia but equally, could be a subtle area of tumor. The report comments on a small cavity at the bottom edge of this area, which I saw as well, indicating that in the previous operation this area was touched, but it is very small indeed and so I do still think that some residual disease is still present. The left side of the gland looks fine. I know you mentioned trying to decide on repeat pituitary surgery vs. adrenal surgery—this is always a personal decision, and it is honestly hard to know whether removing the area in questions would effect a cure, or whether it would not. Certainly the possibility of causing diabetes insipidus would be present, as such removal would take the surgeon quite close to the stalk. Let me know if I can help further.

So, my feeling is that going forward with the BLA is still the right decision. It's really hard not to do a second pituitary surgery when the surgeons can see something on MRI, but I have a hard time buying that a possible cure makes it worth the risks. This is the first I've heard mention of concern for diabetes insipidus based on the location of Alex's tumor. Permanent DI can be treated, but that's just one more thing to worry about if we were to choose a second pituitary surgery.

Dual Diagnosis- Crohn's Disease

Around the same time Alex was diagnosed with Cushing's Disease she was also diagnosed with Crohn's Disease. I'm still not sure I buy this one, and actually her GI doc isn't so sure either. Alex started seeing a local ped's GI doctor back in 2003. At that point in time she was having bouts of abdominal pain and what she would describe to us at the time as "throwing up in her mouth". This eventually led to a diagnosis of irritable bowel (characterized by intermittent constipation and diarrhea), and of acid reflux. Down the road a bit they scoped her and gave her the label of erosive esophagitis. Symptoms waxed and waned over the years and she tried lots of different meds. The next time they scoped her they added gastritis as a diagnosis. A few years later they scoped her again, had her do a "pill camera" and they also ran an upper GI with small bowel follow through. This round of testing brought us to the Crohn's diagnosis. By then (about a year ago) Alex had scarring and lesions all the way through her digestive system; esphagitis, gastritis, ileitis, and proctitis. Gee, I guess this would explain the pain?

So now here's the question...does she really have Crohn's or is this all caused by Cushing's? Crohn's is often treated with steroids; Alex has an abundance of steroids, except when she is in a low cortisol cycle, then she has sub normal levels. Could her body be trying to treat itself by producing excess cortisol? Or, could the Crohn's not exist at all and the GI symptoms are just triggered by the cycling steroids in her body?

We may get some answers once she has the BLA. After surgery she will be on steroids for life. It will be interesting to see how it all works out. I hope and pray once steroid levels are normalized in her body her GI symptoms will disappear. My biggest fear? That she really does have Crohn's and that steroid replacement post-op will be a nightmare to manage, with more needed every time the Crohn's flares up.

We have an appointment

I reached the surgeons office yesterday and managed to get on their calendar. I hope this means he is willing to actually do the surgery. Personally I'd like to skip this step; his record speaks for itself. I'd prefer to make an appointment for surgery and just meet him the day before at the pre-op. No such luck. We have an appointment on April 17th, five more weeks of waiting. Until then I will be praying that he doesn't meet with us simply to tell us he won't do the surgery.

Of course the scheduled the appointment for 9:00am. That means we will need to spend the night in San Francisco. Alex and I both love the city, but a bargain room and parking is $200.00. The drive from here is only about 2 hours during non-rush, but at that time of day it would take us 4. There's no way I could get Alex in the car at 5:00am, she usually can't get out of bed till noon.

Phase 2- diagnosis

This starts from where my "In the Beginning" post leaves off.

After returning from NIH with no answers I was initially frustrated beyond words. With a little time and encouragement from my friends at cushings-help.com I mailed the disk with Alex's pituitary MRI that was done at NIH to Dr. McCutcheon at MD Anderson Cancer Center in Houston. I also scheduled a January appointment in Los Angeles with endocrinologist Dr. Theodore Friedman.

On New Years Eve, December 31, 2007 I received an email from Dr. McCutcheon. Here is part of his response, "By my reading there is indeed a lesion in the pituitary, largely occupying the right half of the gland..." He went on to explain, in detail, what he saw and the implications. With this piece of the puzzle we were finally getting somewhere! With this Alex's pediatrician was able to refer us to neurosurgeons at both Stanford University and the University of California, San Francisco (UCSF) both in January. Although the radiologist at NIH was unable to see irregularities in the pituitary all 3 neurosurgeon were able to see a problem.

January also took us to Los Angeles for our initial appointment with Dr. Friedman. He told us from the beginning that he was fairly certain Alex had Cushing's disease. He ordered more testing and on Easter of 2008 we received an email from him with an official diagnosis and recommendation for pituitary surgery. Surgery was then scheduled at UCSF with Dr. Sandeep Kunwar.

The Referal Process

Apparently this is going to take a while! Dr. Friedman sent his referral to me by email, and sent nothing to the surgeon directly (he told me I could send it over myself). I faxed it over to the surgeons office but I was doubtful they would be happy with it, all he actually sent was the dictation of our appointment. I followed up by calling the surgeons office yesterday. I was right, they wanted a lot more information before they would consider setting up an appointment. I ended up faxing over lots of page of lab results, prior dictations, radiology reports etc. Hopefully this will be enough for them to schedule an appointment. They did tell me on the phone that he is scheduling appointment in April for office visits, and we will need one of those prior to surgery. After we see him then we can set up surgery for June; maybe they can squeeze her in sooner since she is a pediatric case. So, nothing is going to be happening any time soon. I will call them back tomorrow and see if they are ready to at least set up the first appointment.

Some of the basics

Cushing's Syndrome can be caused by either a pituitary tumor, an adrenal tumor or an ectopic source. In Alex's case once testing proved positive for excess cortisol and the surgeon could visualize a tumor (or irregularity) on her MRI she was approved for pituitary surgery. Testing was long and involved! Her surgery in May of 2008 was not successful, but it took another round of testing to prove the excess cortisol was still an issue. In her case the pathology from the tissue removed was classified as ACTH hyperplasia. In lay terms I guess I'd say the cells in her pituitary have run amok and a producing ACTH, the chemical messenger that tells her adrenals to make more cortisol. The hyperplasia can be through out the gland and may be hard to identify, even by a skilled neurosurgeon. Alex's surgeon took out what he could see, but if he were to go again again he would plan on removing half of her pituitary and hope he got all of the tumor/hyperplasia. Some people manage fine with only half a pituitary (or less) but the chance of hypopituitaryism, permanent damage to one or more of the 7 functions performed by the pituitary, would be quite high. For this reason we are choosing BLA. The ACTH producing cells will stay, and continue sending out their signal, but there will be no adrenals to receive the faulty message. Of course no adrenal glands means she will forever have to take medications to replace the steroids/hormones her adrenals would normally produce.

Approved for surgery!

We got the call from Dr. Friedman this evening. He has no doubt that Alex still has Cushing's and has given her his approval for surgery. He gave us the choice between a repeat of the pituitary surgery or bilateral adrenalectomy- henceforth known as BLA. After much thought and internal debate we are opting for the BLA. It will mean a life time of steroid replacement but the chance that it will be a cure for Cushing's is 99% vs, at best, 50% with another pituitary surgery. Alex's pituitary surgery, while unsuccessful, at least left her pituitary function intact. We feel that alone is enough reason to avoid going in again; considering the neurosurgeon would plan on removing half of the pituitary itself instead of just tumor the second time around.

We are being referred to Dr. Duh at UCSF, he is one of the few surgeons in the country skilled at bilateral adrenalectomy using a laprascopic approach. Hopefully he will be "on board" with the idea and diagnosis. For now we wait for the referral process.

In the beginning

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!