#RareDisease
I have many medical textbooks and one of the many things that I have learned about is rare disease. These are usually defined as a disease that is affecting less than 1/2,000 people in the general population. Unfortunately many doctors view rare diseases as a group as a rare problem. The problem with that view point is even though less than 1<2,000 people have MSUD and less than 1<2,000 have ASMD there are over 6,000 of these rare diseases and so your chance of being diagnosed with a rare disease in your lifetime is 1/10. More and more evidence is coming out that rare diseases are not rare just rarely diagnosed. 30 to 50% of infantile deaths are due to rare disease that we know of.
There is a picture that I have seen in medical textbooks and you can see it on https://adc.bmj.com/content/76/2/85 . It shows a triangle that is suppose to represent CF. The widest part of the triangle shows people with classical CF and the smallest part of the triangle shows people with atypical CF. I think that this triangle should be inverted. The tip of the tringle should be the classical presentation. Why would I say such a thing for several reasons. Number one the more severe a phenotype the less likely people are going to live and pass on their defective genes which would make the disease more rare. Number two the less severe the phenotype the more likely the test are going to pop negative. Number three the less severe the phenotype the more likely the doctor and the patient will be satisficed with a misdiagnosis especially if the misdiagnosis is responding to treatment.
If you could think of any topic that you would like me to write on please leave me a comment below and let me know.
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1) Wojcik MH, Schwartz TS, Yamin I, Edward HL, Genetti CA, Towne MC, Agrawal PB. Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities. Genet Med. 2018 Nov;20(11):1396-1404. doi: 10.1038/gim.2018.17. Epub 2018 Apr 12. PMID: 29790870; PMCID: PMC6185816.