It is very important forPatients to call the clinic and find out about the results.The ball can be dropped !

The recent Netflix series about "Diagnosis from New York times"  showing various rare disorders is really interesting.

it is just a coincidence that I was reading  the preview of her book

Every Patient Tells a Story: Medical Mysteries and the Art of Diagnosis

By Lisa Sanders

I was right away able to guess the description of a patient with intractable vomiting as chronic cannabis use syndrome. I did have one such patient who used to go to the ER almost every week for IV fluids.

I still do not know the mechanism by which standing in a hot showerhelps the nausea and vomiting . is it sensory oveload? interference with emesis pathways and heatsensing pathways ?

Here are some comments I have about this Netflix series.

The girl with the CPT 2 disease in the first few minutes I thought she had McArdle syndrome. I was surprised that none of her local doctors sent her to have a muscle biopsy.

Is it possible that only part of the history is given.

Anyway even without diagnosis if she were to follow the same diet for McArdle's and avoid excessive physical activity which she seems to be doing and enjoying and suffering from it even if she did not have a gene sequencing and the label of CPT 2 disease she could have some symptomatic relief.

Diet considerations/ treatment CPT 2 disease

• Low-fat diet with limited long-chain triglycerides for neonatal and infantile form

• MCT oil

• Portagen/Monogen

• High MCT formula

o Need essential FA (safflower, walnut,canola)

• Carnitine

• Consider cornstarch (> 1 y) if symptomatic

• Avoid fasting

• If severe, continuous feeds at night

 As for the goof up by NIH in the case of the child suffering from paroxysmal dyskinesia

All I can say is in medicine no news is no news is neither good news are bad news.

How many times did the mother of the child suffering from paroxysmal dyskinesia contact NIH in those two years?

I always tell my patients that it is very important for them to call the clinic and find out about the results because the ball can be dropped by anyone. No one is more interested in their own results than the patient.