Donjeta
My Youngest child has Phenylketonuria PKU for short, he was diagnosed in the UK from the heel prick test that is routinely done to children here in the first few days of life.
We were contacted directly by the Genetics Department of the Childrens hospital within days in order to minimise any potential damage to his development. Ths contact put us into the system and meant we would deal directly with the specialists for his condition and not the GP.
With PKU as an example, there are tenuous links to Autism and other developmental problems, these are not always evident in children with PKU but as with many rare conditions, there are grey areas in knowledge of the condition and associated conditions.
We were referred directly by our Consultants to other specialists such as eye specialists and neurologists without the involvement of the General practicioner.
Thats not to say that the GP doesnt have records of these appointments and issues, just that he (in our case) is not directly involved in anything other than sore throats, measles etc.
A GP cannot be expected, rightly, to have an all encompassing knowledge of every condition, he/she usually is the first point of contact with an illness or condition, but can often be bypassed dependent on the condition and circumstances.
Incidentally, whenever we visit our GP with our Son, the GP will greet us with something like "Hello, I understand ***** has PKU, how can I help" but he never says a list of his conditions, (which includes an eye problem)