The story of Neil
I have shared my story before and I am happy to share it again. I appreciate the chance to be involved in Rare Disease Day to help raise awareness of my own condition and the Rare Disease community in general.
Just a little information about my condition. Kallmann syndrome is a form of another condition called hypogonadotropic hypogonadism (HH). The condition prevents puberty from starting correctly or fully completing. Kallmann syndrome is also associated with having no sense of smell (anosmia).
Kallmann syndrome / HH can be difficult to diagnose correctly, especially in females. Patients can be told they are just “late starters” or “late bloomers” and told to wait and see. There are some addition physical symptoms that occur in some cases such as poor hearing, cleft lip, scoliosis, or mirror movements of the hands that could lead to an earlier diagnosis if spotted.
In my own case I had anosmia and poor hearing but no doctor linked that to my lack of puberty until i was 23 years old.
Kallmann syndrome / HH is not the same as delayed puberty. In delayed puberty normal puberty and fertility is achieved and treatment is not required or if required, only for a short time. In Kallmann syndrome / HH life long hormone replacement is required, normal puberty is not achieved and patients require additional specialised hormone treatment should they wish to be fertile.
I enjoy the opportunity to connect with fellow patients. I think it can help my patient journey to help spread information about the condition to others and let people they are not alone with a rare condition that can be embarrassing to admit having and talk about.