The story of Neil
I have a rare condition called Kallmann Syndrome, also known as congenital hypogonadotropic hypogonadism (CHH).
The primary symptom is a failure to start puberty due to a break down in the hypothalamus / pituitary communication network. Kallmann syndrome is also associated with a lack of sense of smell. The lack of LH / FSH hormone signals from the pituitary gland prevents puberty from starting,
It affects both men and women and leaves patients infertile and with little or no secondary sex characteristics. The only other major health concern is osteoporosis in both men and women due to lack of androgens. It can be a difficult disease to diagnose due its personal nature and most patients with delayed puberty are told to “wait and see”. By the time you get to the age of 20 you are tired of hearing the expression “late developer”.
I was diagnosed at the age of 23 after I finished University. I was still classed as being “late” then which made no sense to me but every doctor I had seen until then had kept saying “wait and see”.
My first job was working at the Royal Free Hospital in London. I am a Biomedical Scientist by profession. I happened to meet an endocrinologist in the hospital, and the first question he asked me after I told him about the lack of puberty was “can I smell ?” It was the first time a doctor had asked me that question. I just happened to be working at one of the few hospitals in the country that specialise in Kallmann syndrome and CHH.
From that point I was put on the right form of treatment and eventually began to look my age and to start shaving. I am currently on fertility treatment.
I have since become a patient advocate for the condition and I talk to specialists from around the world about the condition gaining information on the condition. Through Facebook pages and other blog sites fellow patients contact me and I talk to them about their experiences and I offer advice both on the treatments available and on the psychological aspects of this rare condition.
I organise patient meetings to allow fellow patients to meet each other which I think is an invaluable experience in rare conditions. I am very comfortable talking about my condition if it helps others get a diagnosis and the correct treatment. It can be a very difficult condition to talk about and a lot of patients feel like they are the only person in the world with this condition. Most patients feel relief to be able to put a name to the condition and to talk to fellow patients.
To connect with others who understand, please join the international Kallmann syndrome community: