... Some 30 million Americans ... experience significant health problems that defy diagnosis. Their symptoms range from mysterious heart attacks in teenagers to spine abnormalities, intellectual disabilities, low muscle mass, digestive troubles, and countless others. Their ailments don’t follow well-known disease patterns.
In many such cases, doctors order batteries of tests: DNA sequencing tests to gather information about genetic changes that may cause disease, exome sequencing tests to examine the protein coding regions of the genes, and imaging scans like MRIs, PET scans and CAT scans to get a detailed look inside the body.
But even then, diagnoses elude these patients. At a loss, they seek answers on the internet or in medical books. ...
[T]he Undiagnosed Diseases Network (UDN) ... works to help patients get diagnoses and advance our understanding of health and disease. ...
The UDN provides an avenue of hope. Difficult-to-diagnose patients typically reach the UDN through referrals from their primary care physicians. Patients or their parents complete a short online application that is reviewed by the UDN Coordinating Center at Harvard University. The Coordinating Center determines which patients to accept and which site to send them to. To date, the UDN has received 5,700 applications and accepted 2,246. “For those who are not accepted, we still try to provide a specific recommendation to help them” ...
Why do I post this? It's because a fair number of Social Security disability claimants have undiagnosed disorders. Social Security usually deals with these cases by denying them at the initial and reconsideration levels. Administrative Law Judges often deny them. If there's no label, the problem has to be imaginary, right?