The joys of being an informed patient…
I have come to the conclusion that a lot of doctors, especially GP’s have problems sometimes dealing with informed patients.
I do have some sympathy of course. They went though 5 years of medical school plus 2 or 3 years of pre-registration training, so when a patient comes up to them and self diagnoses themselves on the basis of a Daily Mail article or a print out from WebMD they might have a right to be a little sceptical.
However the trouble I have with my condition is getting some GP’s to accept that there are conditions out there that they may not of heard of and when a patient presents with a specific set of symptoms it is so easy to go for the easy answer without considering an alternative.
My condition is a case in point. Kallmann syndrome and hypogonadotrophic hypogonadism are extremely rare conditions and are not easy to diagnose. There are early symptoms in childhood, but not many. The majority of are only diagnosed well into our late teens / early 20’s when puberty still has not occurred and the title “late developer” and “late bloomer” has got far beyond a joke.
I know more about my condition than any GP I have ever met. I know more about my condition than some of the consultants I have met, especially in the early years before I was diagnosed at the age of 23.
This is probably the major reason I like talking to people on-line and posting information on web pages and e-mails. If I can help other people get an early diagnosis by knowing what questions to ask the doctors and knowing when to keep on at them, then it is worthwhile.
I have had a couple of cases where I have told people the questions to ask and they have just been totally ignored. The doctors refused to accept that it could be anything other than delayed and told them basically to go away and it will happen soon enough.
Nobody at 16 should be dismissed as a “late developer” without specialist review to distinguish between a case of delayed start or a case of Kallmann syndrome or HH. Treatment can be started early which will either initiate normal puberty or confirm a diagnosis of Kallmann syndrome or HH. Either way early treatment is always a benefit, instead of being turned away and told to “wait and see”.
Kallmann Syndrome - delayed or absent puberty 
The doctors play the numbers; it’s hard to get around that. If 99 of 100 16yo kids turn out to have delayed puberty, you don’t refer all 100 kids to the specialist.
I do know what you mean and it does depend on the GP you see and the knowledge each individual patient has at that time.
However, there are a few points I would add.
The two top KS specialists in this country (UK) both agree that would expect a boy of 16 with no obvious signs of puberty to be referred to them for immediate assessment.
Recently in my discussions with men with KS / IHH they have told me that they knew something was wrong with them even at 12 or 13. I can not recall feeling like that myself at that age, but if a patient has the sense there is something wrong it should warrant further investigation.
Lastly, and I think most importantly, a boy of 16 with no signs of puberty should not be told to “go away and wait and see”. The bare minimum at that age is for the levels of testosterone and more importantly FSH and LH to be tested. If the levels of all 3 hormones come back as very low, low dose testosterone injections could be considered, depending on the height of the patient. One consultant uses the Nebido injection at the age of 16, with regular assessment of testosterone levels and checking for testicular development to distinguish between a case of KS / IHH or “delayed” puberty.
I agree a boy of 16 should not be turned away being told to wait and see.
I have never had a problem with being an informed patient. What I learned to do long ago is ‘lead from behind’. Tell the doctor you are “not a medical person of course” but then ask questions you already know the answers to. (this way you find out how much he really knows). Or, tell the doctor you have heard this or that, or read so and so’s book which was very informative and you would be interested to know his opinion on it and ‘bow to his superior knowledge’. I know it’s a bit like being a crawler but if it helps…!! Almost all professionals are suseptible to flattery!
I had been diagnosed with KS 30 years before I actually heard the words.
I knew something was wrong; that I was ‘not normal’ in childhood,6 or 7 years old. At age 63 I only met one other person with KS this year. It felt really good, at last I was not a lone freak! I cannot quantify the benefit to me of being able to contact others with KS.