Dear Dr. J.,
Ok, I admit it. The subject was just to get your attention, but it is related to the purpose of the email.
My niece, R2C2, had Geleophysic Dysplasia. She died when she was almost two. At the time, her older sister R2E2, was 5.
The immediate cause of R2C2's death was heart failure. R2E2, when given the opportunity to raise money for the American Heart Association, literally jumped in with both feet. You can read more of R2C2 and R2E2's story here - it's worth checking out. She has also created a 1 minute video for her fund raising efforts which you can see here . I'm not asking for money, but I was hoping you could send out a supportive tweet with links.
Thanks for your time.
Operative R2DTDear R2DT,
Dr. J. is sorry about the loss of your niece. Normally it is not Gormogon policy to use our forum for plugs, and Dr. J. may be on probation as a consequence, however, as you know, Dr. J. has a soft spot for the American Heart Association. The Jedi Academy, like a legion of independent schools, hosts the AHA Jump Rope for Heart. The lil resident has lead her class in fundraising each year at the school, as the force is strong with that her, and she has no shame with regard to her use of the Jedi mind trick for a good cause.
Now for those not in the know, geleophysic dysplasia is a genetic disease resulting from a defect in the ADAMTS-like-2 gene. We do not know much about the protein. What we know, however is that it can interact with another protein called Latent Transforming Growth Factor-beta Binding Protein-1 (LTBP1). LTBP-1 is an important protein regulating the stretchyness of your connective tissue. Connective tissue is everywhere. It is the mortar between your cells (the bricks). ADAMTS-like-2, if it acts anything like other ADAMTS proteins is an enzyme that directly remodels other proteins, glycoproteins, proteoglycans, or such.
Anyway, for our readers, Geleophysic dysplasia results in short stature, and a classic happy appearing facial expression. Valvular heart disease (both narrowing and leakiness), narrowing of the pulmonary artery and even a hole between the atria can occur. The liver, and windpipe can be affected as well. (Thank you NIH for the handy dandy summary). The cardiovascular defects, especially the valvular heart disease, can lead to unfavorable remodeling of the heart, and ultimately heart failure.
Well, Operative R2DT, you got Dr. J.'s attention with the rare and interesting disease. You have his deepest sympathies regarding your niece, and good luck to her sister.