4-18-99

My third daughter, Sam was born five weeks early on March 22, 1999. While she was only 5 lbs. 11 oz, and 19" long, the startling thing was that her cheeks seemed to be three times larger than normal newborns. On day three of Sam's life, the NICU nurse noticed increasing blood pressure and a renal problem was suspected. Sam then endured many tests, but all came back within normal limits. An endocrine problem was suspected; a catheter inserted to collect a 24-hour urine, but the lab contaminated the sample and when the test was repeated, Sam developed a urinary tract infection. At that point, the test was halted, as the doctors didn't think it was "necessary" anyway. Sam was started on two different kinds of blood pressure medicine, but her blood pressure continued to rise. By April 3, we had had enough and insisted that she be transferred by ambulance to Seattle Children's Hospital. Once there, she was seen by at least 50 doctors, her hematocrit had fallen from 45 at birth to 29 due to all the blood draws. She maintained a dusky grey hue and was rarely conscious.

The head of Endocrinology noted that Sam appeared Cushinoid and another battery of tests began including a catheter for collecting the 24-hour urine sample. Newborn, premature, Sam was fasted for four hours, injected with Dexamethasone, fasted another hour and her hematocrit dropped to 24. She was released from the hospital pending the test results and once at home, she was awakened every two hours to consume one ounce of breast milk and have her blood pressure monitored. She slept upright on my chest; she couldn't lie flat due to the immenseness of her face.

8-5-99

At three weeks of age, she was pale, thin, vomiting most of the milk she was given, and was rarely awake. We realized that some proactive action was required and began to wean her from the blood pressure medication. Her blood pressure remained steady and some of the puffiness seemed to disappear. When we returned three weeks later for the test results, the doctor didn't have any results and described to us the tests he wanted to do, which were the ones that had already been done! On top of that, he asked permission to draw blood from Sam's jugular vein, since the others had all but collapsed. I tore up the permission form and walked straight out of there with my baby. The doctor did call later, "Sorry, we found the results and they are normal".

The most remarkable thing is that by the time Sam was about five months old, most of the symptoms had disappeared. Her blood pressure was normal and, while frail and thin, she was responsive and started to eat more. I did research on the Internet and found that Cushing's could cause Sam's problems. Things stayed normal until February of 2001. Then she began eating voraciously, gained 10 pounds in 10 days, got acne, a buffalo hump, and was constantly wet with urine. Back to Children's Hospital, where Sam was tested for a variety of genetic disorders; all of which were normal. Again, after five weeks, Sam's features returned to normal. While we were thrilled that the symptoms resolved, our entire family was becoming very frustrated by lack of a diagnosis.

2-11-02

In February of 2002, we seemed to have a healthy, happy child who was growing up normally, but then things changed again and Sam went into another terrifying cycle of weight gain and hypertension. By March, we barely recognized our own child. At this point, I realized that Sam must have some kind of intermittent Cushing's. So, armed with that information, we went back to Children's Hospital-this time I just walked into the clinic and told the receptionist that I had to see the doctor today! The doctor was spitting mad and told me Sam couldn't have Cushing's because she wasn't short!! (Poor growth with weight gain is associated with childhood Cushing's.) Too many french fries he said so we were referred to a nutritionist-not a pleasant experience. To this day, I think that nutritionist walks the halls without a head following her encounter with me.

3-10-02

Even though Sam's symptoms were again resolving, we asked for a referral out of state to Phoenix Children's Hospital. The doctor there concluded that there were many mentions of Cushing's in Sam's records, but no one had put the pieces together yet. He was the first to mention cyclical Cushing's and explained that Sam could only be tested during active cycles. So, home we went frustrated that she couldn't be tested, happy that we now had a name for what was wrong, and confident that she would be diagnosed during the next cycle. Our instructions were to return to Arizona as soon as we saw the symptoms returning.

11-20-02

Unfortunately, we didn't have time to do that with the next cycle. In November, 2002 Sam very suddenly developed hair all over her face, profuse sweating, increased urination, high blood pressure, joint pain, etc. The day before Thanksgiving, I took her to the doctor and he said, "Get her to the emergency room, NOW". Sam was going into diabetic shock, but she didn't have diabetes?! The doctor in the emergency room seemed concerned and genuinely interested in Sam's strange history. We were sent home with three bottles for 24-hour urines. Since Sam was not potty trained at night and certainly not when symptomatic, I had no choice but to go to war. I woke Sam up every hour, had her stand up on her little bed and pee in a bedpan-shaped bowl. By dawn, we were collecting urine in our sleep, literally. And we never missed a drop! The test results came back an astonishing 2,960 with normal being 2.9-24. Yes! We had a diagnosis! But, not so fast-The doctor called and said he had further reviewed Sam's records and there was concern about Munchausen's by Proxy. I, the mother, was being accused of giving steroids to my daughter to make her sick! I was questioned about the presence of steroids in the house, whether someone else, for example her asthmatic sister (age 11) could be giving Sam steroids. We were outraged!!! At this point, Sam's Dad built the web site http://www.qatworks.com/sam/gunther.htm that literally saved Sam's life since it clearly showed the progression of symptoms.

11-29-02

In December of 2002, Sam was hospitalized for four days to repeat the tests and finally get a diagnosis, and I think to be sure we weren't giving her steroids. She was in an active cycle, and we were pretty much cleared; and we finally had Cushing's as a diagnosis! About that time our doctor heard from Dr. Stratakis at National Institutes of Health (NIH) in Bethesda, Maryland. He was pretty certain from our web site and the test results that Sam did indeed have Cushing's, possibly a rare form called Primary Pigmented MicroNodular Adrenal Disease (PPNAD). So, on Valentine's Day, 2003 our entire family traveled to NIH for further testing and hopefully, a long awaited resolution. Sam was admitted and tested and even though she wasn't in an active stage, she failed to suppress under dexamethasone. The suspicion was PPNAD but the solution would be a bilateral adrenalectomy, and once again, we were told that she needed to be tested during an active stage before surgery. So home we went.

3-22-03

It started on the airplane on the way home. Sam ate the entire manicotti. I knew this meant trouble-why would anyone eat manicotti on an airplane?? It continued once we were home, and once again Sam and I were up all night for two days collecting urine. This time the lab lost the samples, so we did it again. Finally, we had the two, high, 24-hour urines, numbers in the 3,000s this time; and we needed to return to NIH. Arrangements were made to travel to NIH on March 29th. For the first time in Sam's life I found myself hoping this cycle would last. The last several cycles had done so much damage to her young little body including osteopenia and eye muscle damage from which she may not recover completely. Thickened adrenal glands were found on a CT scan. Sam underwent a bilateral adrenalectomy on April 8, 2003. She spent 10 days in ICU but thankfully she had no pain thanks to an epidural that was left in place following surgery.

3-22-04

I wish I could say that our story happily ends here, but while Sam's Cushing's has resolved, she has developed a nodule on her thyroid which might be consistent with Carney Complex (CC), a genetic disorder not limited to just adrenal enlargement. The most life-threatening development in CC is the formation of cardiac tumors, so Sam is monitored every six months by a cardiologist and continues to have her thyroid checked. We return every six months to NIH for follow-up. I can't thank Dr. Stratakis and the nurses and staff at NIH enough. Sam is now doing well and is starting Kindergarten. It breaks my heart to think that other children and families could be going through what we did. Please let me know if I can be of help to any other parents.