My personal journey with Cushing’s started on March 22nd 1999. Samantha Rose was born five weeks premature at 4:23 PM. She was 5 lbs. 11 oz. At 24 hours old, Sam developed high blood pressure, hypertension in newborns is practically unheard of, thus it rang a bell of alarm. She was transferred to the NICU where her blood pressure was monitored every few hours. It just kept climbing. The doctors decided to prescribe blood pressure medication and do kidney scans. The scans showed nothing and the blood pressure decreased to a normal level. However, Sam was rarely awake and unable to be roused to eat. She began losing weight. She also began to lose (what I now know as a Cushingnoid appearance) her immense checks and fat stomach area. At eighteen days old she was released from the hospital. On day thirty, with a pound lost and literally unresponsive, my husband and I made the decision to discontinue blood pressure medications. For almost two years Sam saw a kidney specialist and endocrinologist in an attempt to explain her newborn symptoms.
For twenty months Sam grew slowly. She was small for her age but very bright and responsive, though she still didn’t like to eat much, mealtime was always a struggle. One day literally, at twenty months old she started eating everything in sight. She begged for food after finishing a large meal, she cried at TV commercials for food and put literally anything she could find in her mouth. She gained ten pounds in ten days. Alarmed, I brought her to her pediatrician. He referred her back to her endocrinologist who had an appointment available five weeks later. By the time the endo appointment arrived Sam had normalized and lost the ten pounds. Her appearance went back to normal. The endo believed I was feeding her too much and sent me to a nutritionist. He also tested for Prader-Willi Syndrome. This result was negative.
At 22 months the same thing happened. I tried the local endo and they told me he could see her in five weeks, I knew the symptoms would subside so I went down to his office and sat for six hours until he saw us. He was very annoyed with me and dismissed us almost immediately. He told me she was an obese child with poor eating habits. At this point, out of luck at home, I traveled to the Mayo clinic in Scottsdale and Arizona Children’s hospital for consultations. It was there that I first heard the words “Cyclical Cushing’s Syndrome” though it had never been described in a child. Armed with a name I went online and found the Cushing’s Help board. With nothing to lose I posted Sam’s story along with pictures outlining her dramatic changes in appearance. I received literally dozens of responses, and one brave woman stated “I am nearly 100% positive Sam has Cushing’s”. It was like a sledgehammer to my gut. I knew what, but I didn’t know how or why or how to get help.
At two and a half Sam went into another cycle. She gained twelve pounds, was sweating profusely, had a strange odor and grew hair all over her face. I went back to the pediatrician. He did a urine test, told me she was diabetic and sent me to Seattle Children’s hospital. Back to the endo she had seen since birth who felt she was a Cheetos addict. This time we had to go to the ER, which was to our benefit (there is no waiting five weeks in the ER to see an endo, if a patient requests one they will be paged-this is a trick I have used many times in our lives). I explained Sam’s unusual story to Dr. Dan Gunther. He was very kind and agreed to look into Sam’s enormous medical file. Sam was not diabetic; her glucose was high due to the Cushing’s symptoms.
Over the course of the next few weeks Dr. Gunther requested many standard Cushing’s tests. Sam passed (or failed) everyone. One of her 24-hour urine cortisol’s was in the 4000 area. At this point Dr. Gunter wanted to admit Sam for a few days for more rigorous testing, also because there was mention at the hospital of me being a doctor shopper and having Munchausen by Proxy. Admitting and monitoring her for six days would prove her body was making her sick, not her Mother. I agreed. I had nothing to hide and if it brought us closer to diagnosis, I was all in.
Sam was diagnosed with Cushing’s syndrome due to Adrenal hyperplasia during this visit. I was cleared of the Munchausen by Proxy allegation. However, Dr. Gunther nor Children’s Hospital Seattle had no idea how to treat her. Dr. Gunther and I both began investigative work to find an expert. Dr Gunther happened on Dr. Constantine Stratakis at NIH whose life work had involved children with adrenal disorders. My husband (a web designer at the time) developed a web page of pictures and timelines illustrating Sam’s strange journey. I emailed it to Dr. Stratakis. He called me that day. He explained to me that with the website and Sam’s testing results he was sure she had Cushing’s and needed to be treated at NIH by bilateral adrenalectomy. Plans were made to visit NIH two weeks later. At that time Sam was not in a cycle posing the problem that Cushing’s needed to be diagnosed at NIH before they could treat her. Thus, we were sent home in a “holding pattern”.
About six weeks later, Sam started showing signs of a cycle. We rushed her across the country to Bethesda and caught the end of a true cycle. Her 24 hour urines were 500. On April 8th (National Cushing’s Awareness Day and the birthday of Dr. Harvey Cushing) Sam had a 6-hour bilateral adrenalectomy. She had been 4 years old for two weeks. Sam’s surgery was successful, though very invasive. She has a 15-inch scar just above her belly button. She spent six weeks at NIH in recovery, three spent in the ICU. Replacement steroids would be needed three times a day for life. She would also need to triple dose steroids in times of stress, fever or vomiting.
We visited NIH every 3-6 months for the next four years. When Sam was 8, her disease was named Primary Pigmented Micro Nodular Adrenal Disease. This is a familial disease. Her sisters were tested and one was negative, though her oldest sister Jordan, was positive. It was advised that Jordan have a BLA also. Shortly after her 16th birthday Jordan underwent surgery at NIH. Since then, the PPNAD diagnosis was proven to be unfounded, thus I have an older child who may or may not have needed a BLA. This keeps me awake most nights.
Today our visits to NIH have been discontinued due to aging out of the protocol. Sam is 17 and struggles with low body weight and some learning issues, she is an athletic girl who rides with an international horseback archery team. Jordan 25, graduated from college and remains diligent in taking her replacement medication though still struggles with some Cushing’s symptoms.
Our Cushing’s journey has been the greatest challenge of my life. I take comfort in talking with others in the same position. Sam’s story has guided some to a cure and for that I will be ever grateful. In November 2005 we participated in Discovery Health’s television pilot called “Mystery Diagnosis”. Upon airing, I heard from people all over the world who were aided by Sam’s story.
We are grateful each day for the heroic Doctor’s (and everyday people online) that gave our child a chance at life, and marvel at the amazing people we have met by sharing Sam’s story. Sadly, our hero, Dan Gunther passed away in 2007 at the age of 49. He remains the best man I have ever known.
The only way this could have been harder is if I was the sick person seeking diagnosis and treatment. I don’t know how the people I have spoken to manage to jump through the Cushing’s diagnosis hoops whilst battling the disease. Bravery and courage come in many forms I have found.
I am enjoying my new role with the MAGIC Foundation and hope to assist suffering people (if even just a bit) through their own journeys and toward a healthy life.