This one has a great human interest angle, but it is very confusing. It says the family have a “connective tissue disorder” that is “related to Marfan syndrome.” Then it goes on with the generic “info” on Marfan syndrome, but referring to “connective tissue disorder.”
OK, Marfan syndrome is *a* “connective tissue disorder” meaning that it is a disorder involving the connective tissues.
The particular protein in the connective tissues that is defective in Marfan syndrome is fibrillin.
In Ehlers-Danlos, which is also a connective tissue disorder, the defective protein is collagen (another common misnomer, even among doctors, is that Marfan is a “collagen disorder”; it is not).
Then there’s Loeys-Deitz (sp?), which is not a connective tissue disorder, but a growth hormone disorder.
Then there’s “mixed connective tissue disorder,” which is an autoimmune disorder that effects the connective tisssues.
But sometimes, people will have Marfan-like symptoms, like the mother and son in this story, but no clear diagnosis due to a lack of a smoking gun.
Marfan is very hard to diagnose genetically without a family history of it.
But isn’t all of that simple enough for a reporter to say without really screwing up the facts?