I remember one afternoon my son came home from his first day of first grade and said to me….”Mommy, what does “chubby” mean? Immediately, my heart sunk…already at the age of six my son was learning the cruel reality of how society views overweight individuals, even young children.

At the age of six, my son was alreadyshowing obvious signs of the classic look of a Cushing’s patient, although I had never heard of the disease before. In his kindergarten year, and every year after, his weight gain increased by approximately 30 pounds per year, despite the fact he was playing basketball, baseball, and skateboarding. I watched his weight like any other concerned mother would do, and tried to manage it on my own. Soon, it was apparent that something was very wrong with my child, however I couldn’t really pinpoint what it was.

He was complaining of headaches, and also he was extremely stiff every morning. He would complain of his joints aching, and he reminded me of a little old man first waking out of bed. I went to our local pediatrician, and he looked at Stephen, and was concerned with the weight gain. He referred Stephen to a specialist, and in turn began the unending circle of numerous doctor and hospital visits. The endless poking and prodding by doctor after doctor for over two years was incredibly disheartening. I had noticed that Stephen’s height had not changed during this two year period, and I kept telling the doctors over and over my concerns. Several doctors told Stephen, that he ate too much, and they accused me of over feeding him, and sneaking food to him. They referred me to several nutritionists, and even suggested that Stephen have a personal trainer to get the weight under control. Several comments were made over the course of the two years that Stephen may have Cushing’s, but all the doctors rejected that thought, and said that since Stephen was a male and a child, that it would be extremely rare. The doctors had ordered urine free cortisols, dex tests, and several blood analysis tests, only to tell me that the likely hood of Stephen having Cushing’s was so rare that all completely dismissed it.

With the help of the Cushing’s Support and Research Foundation they were kind enough to connect me with a family in Australia who had a boy recently diagnosed with Cushing’s. I immediately contacted them, and instantly realized I was not alone, and that the mother had gone through the exact same stress of fighting to manage her son’s health care as I had. With the constant support from this incredible family, I found the strength to not give up and keep fighting for the answers to my son’s illness. CSRF also referred me to the brain tumor center at San Francisco University, and finally the correct 3d MRI’s were ordered which proved a tumor on the left side of Stephen’s pituitary gland. They informed me to contact the National Institutes of Health, and speak with Dr. Chorusus. Within a month of contacting the NIH Stephen and I were on a plane to Maryland, and soon after the correct diagnosis was confirmed. “Cushing’s Disease”. Stephen in fact did have an ACTH producing tumor on his pituitary gland. Stephen spent almost a month at the NIH, and under went transsphenoidal surgery in September of 2000. Although he was quite ill for several months afterward, and remained on replacement therapy for almost two years, he beat the odds of having this terrible disease. Stephen is now almost 6 ft tall, and is a happy healthy 13 year old, who enjoys life, and has learned the gift of compassion from his experiences of fighting this disease.

I truly believe without the help of the CSRF and the Aulbury family in Australia my son would not be here today. My undying gratitude goes out to the National Institutes of Health and their incredible staff of Dr. Chorusus, Dr. Stratakis, Meg Keil, and the superb nursing staff, whom saved Stephen’s life.

For anyone out there who is experiencing the pain of fighting for your loved ones health, don’t give up! The answers are out there, and there are people who are placed in our lives to guide us through. If there are any mothers who would like to contact me for support please feel free to!