Association for Multiple Endocrine Neoplasia Disorders

I live in a suburb just north of Seattle, Washington.  I have been married nearly 26 years to the love of my life, and we have identical twin sons who are currently in college.  I was a paralegal for 15 years and left that career to stay home and focus on raising my boys.  I have since worked as a business manager for my husband’s dental practice and have enjoyed volunteering in my boys’ school and Little League activities. We love to spend time in the mountains skiing and hiking, and enjoy traveling.

My journey began in 1996 when I was 32 years old, married to a loving and doting husband, had beautiful and healthy twin boys and was pregnant with our third child.  On February 14th I was being treated in the emergency room for a miscarriage and an ultrasound revealed a pancreatic “cyst” that the doctor suggested I might want to have checked out.  My grandmother had passed from pancreatic adenocarcinoma, so I was definitely going to get it checked out.  Within three days, I was diagnosed with a pancreatic islet cell tumor and surgery was recommended.  I sought a second opinion from a surgeon who, upon learning a family history of my father having kidney stones and my grandfather dying of complications of diabetes, suggested I might have a disorder called MEN-1.  I also had a history of what doctors thought might be gall bladder disease, as well as persistant lactation since breast-feeding my twins two years prior.  I had never heard of MEN-1 and really just brushed off the idea.  I had surgery a few weeks later and pathology came back as a benign non-functioning islet cell tumor, possibly somatostatinoma due to a mildly elevated level prior to surgery. The tumor was difficult to remove due to its location in the head of the pancreas and I suffered some damage to my bile duct.  This resulted in many years of dealing with pancreatic complications from surgery.

I was healthy but struggled with infertility issues.  In 1998, with continued lactation and an elevated prolactin level, I had an MRI that revealed a small pituitary micro-adenoma.  My husband and I began researching neuroendocrine disease and started to think that maybe I had the disorder.  Additional labs showed my calcium was high-normal, I had a mildly elevated parathyroid hormone, and a bone density study indicated I had early onset osteopenia.  An official diagnosis was made and I was referred to an endocrinologist.  In spite of the diagnosis, I continued to try to get pregnant and suffered two more miscarriages.  At no time did any doctor advise me that my children had a 50/50 chance of inheriting the disorder, or suggest a genetic counselor.  I had one failed attempt at IVF.  After 10 years of trying to have another baby I decided it was no longer a good choice, for me, to have another child that might have MEN-1.  My prolactinoma has remained stable for 17 years and I underwent sub-total parathyroidectomy in 1999.  My levels are rising again and it looks like I will require a second surgery.  I hope to have tissue transplanted into my arm this time though.

I was curious how I had gotten this disease and who had I inherited from – my paternal grandfather’s family was the likely origin but we had no knowledge of this side of the family.  My grandfather died when my father was a young boy and he had no contact with any relatives throughout his life.  When the genetic test became available in 1999, my father and I both tested positive and we strongly suspected his father’s side of the family. It wasn’t until I researched my ancestry and later came in contact with distant cousins that had an obscure illness including parathyroid disease that we knew for sure I had inherited MEN-1 from my grandfather.  So far, I have traced the disease back to my great-great grandmother in Oxfordshire, England and have been acquainted with other relatives who are afflicted.

In 2005 while on vacation I went to the emergency room with severe abdominal pain and vomiting.  The doctor advised me that I had extensive liver metastases.  I was shocked and confused.  I was being followed closely by my gastroenterologist, as well as other specialists, and this was the first mention of cancer.  Six months, three cancer centers, two liver biopsies and one amazing radiologist later, I was diagnosed with metastatic islet cell carcinoma in the liver.  I had radioembolization to the liver in 2007 that reduced the number of tumors and in 2010 I underwent a liver resection that was successful in removing all remaining tumor burden.  I learned last year through a Gallium 68 PET/CT scan that is in clinical trial currently in the US, that I have progressive disease with new tumors in both the pancreas and liver.  My husband and I attend neuroendocrine conferences around the country seeking the newest treatment options and to meet knowledgable and experienced medical professionals.  Our sons were diagnosed gene positive in 2007 and were diagnosed last year via the GA68 study with multiple pancreatic lesions.  AMEND has been a great source of information and knowledge for me over the past several years, as well as a fantastic support system.  It is amazing to meet and share information with others who are also afflicted by MEN disorders.  I feel compelled to become involved in AMEND USA to be a beacon for bringing awareness and knowledge to this disorder.