(Serious) Doctors of reddit, what is the rarest condition you have diagnosed and how did you come to that conclusion?

I'm not a doctor, I'm actually in school to become a nurse. And I wasn't the one to diagnose this disorder, but I feel as though it's an important story for people to know

I worked at a group home for 6 years for the mentally and physically impaired. One of the clients I worked for had a disorder known as PKU (Phenylketonuria) which is a metabolic disease where the body cannot break down the amino acid "Phenylalanine" which is found in almost any type of protein you eat, and requires a special diet if diagnosed.

PKU has been known about for quite some time - and it affects about 1 in every 20,000 people. The thing that makes this case unique is the way the mother reacted to the diagnosis (denial). Newborn babies are tested for PKU, and she had simply ignored the dietary restrictions and refused to believe anything was wrong with this client.

So what happens with people with PKU who consume excessive amounts phenylalanine before the brain is fully developed is brain damage.

This client who is now in his late 40's has an IQ of a 5 to 6 year old, who will never know what it's like to be independent.. or even know how to tie their shoes. I guess what really gets to me is the fact that this was avoidable had the mother just accepted the fact that not everything is perfect. I don't know, I thought I'd just share.

/r/AskReddit Thread Parent