From: cselassie on
My family has a history of myopia, astigmatism, retinal detachment,
glaucoma, vitreous deterioration, mild joint hypermobility,
fibromyalgia, mild "heart murmurs", heart disease, "chronic fatigue",
osteoarthritis, and some scoliosis.

My teen daughter has fatigue and hypermobile joints, a long narrow
face, narrow jaw requiring orthodontic work, fingers that appear a
little long and a recent cardiac ECHO that came back as "mild
tricuspid valve regurgitation" and "mild pulmonary hypertension" which
her doctor said was non-specific. She also has stretch marks on her
hips (she is very thin, but average height) which the Rheumatologist
we consulted said didn't look like the "cigarette paper scar" of
Marfans. She also has ADHD and anxiety.

She has not had any genetic testing. Because of the family history of
eye problems and her ECHO results, do you think she should have any
genetic testing done for Marfans, Ehlers-Danlos, Stickler syndrome or
anything else?

Any other suggestions? I'd greatly appreciate input.

Thank you.

Csel