Multiple endocrine neoplasia type 2B (MEN2B) is a genetic disease in which one or more of the endocrine glands are overactive and form a tumor (neoplasia).
Although many people live relatively normal lives, being diagnosed and living with a rare genetic endocrine condition can be difficult at times, and AMEND, the Association for Multiple Endocrine Neoplasia Disorders, is a charity which supports patients and healthcare professionals to encourage better access to treatments for MEN patient communities.
We were honoured to be chosen by AMEND to produce a series of online films that invited audiences into three peoples’ lives who have MEN2B. Ethan, Kristina and Asher all have a diagnosis of MEN2B, but their diagnosis has come at different stages of their life. Unfortunately for patients that receive a late diagnosis, the effects of their rare genetic endocrine condition, can mean they are faced with a life-limiting illness.
Asher was diagnosed at 7 weeks old, and in the last year of his young life has already undergone life-saving surgery as a result of MEN2B.
Kristina was diagnosed age 5 years, and now as an adult she has been able to manage her disease with the help and support of AMEND.
Unfortunately for 13 years old Ethan, he was diagnosed as a teenager after years of misdiagnosis. His late diagnosis has meant the progression Medullary Thyroid Cancer will be life-limiting which has been devastating news for him and his family. Despite this, Ethan and his family are determined to raise awareness on behalf of AMEND and campaign for support, research and awareness for others that have MEN2B. Ethan is an inspirational, strong young man and his determination and positive attitude captivated the crew and helped us produce two powerful films about Ethan and his life.
We thank all contributors and their families for allowing us into their homes and enabling us to capture a series of honest, poignant and important films.
Early diagnosis in MEN2B is key to patient’s treatment and quality of life. One key reason the charity wanted to produce these films was to highlight the need for more awareness in the medical profession about MEN2B and the early warning signs. Constipation, digestive issues and lack of tears when crying are all symptoms infants can have that could indicate MEN2B, but these problems often lead to misdiagnosis for many and complications later in life. The earlier diagnosis, the sooner cancer preventing procedures and operations can take place that can prevent tumors growing and spreading.
Life with MEN2B, even after an early diagnosis, is difficult and patients will face numerous treatments, appointments and medication in order to maintain their condition. However, the more awareness people have about MEN2B – both in the public domain and medical field, the greater the hope for better access to treatments and support for MEN patient communities.