Special needs adoption from a Jewish perspective.

Special needs adoption from a Jewish perspective.

Thursday, October 3, 2013

31 4 21 Future face of Down syndrome

An excellent piece over at Patheos, interviewing Faycal Guedj, a Tufts University/University of Paris geneticist who also has a sister with Trisomy 21.   To a large extent, this echoes and amplifies what I wrote about disability a few weeks ago.  New research offers more choices for individuals to determine how to best improve their own (or their child's) quality of life.

Most interesting, I thought, was the commentary on a little-discussed effect on early prenatal testing (non-invasive prenatal testing, or NIPT) .  Many in the Down syndrome community worry about the projected increase in T21-related terminations.  However, Dr. Guedj points out that,
An early diagnosis of trisomy 21 with NIPT (10 weeks of gestation) offers a tremendous opportunity to intervene in utero using safe and well-designed therapeutic strategies that will potentially lead to a very significant, which is not to say a complete, normalization of brain development and cognitive outcome in newborns and children affected with DS.
....as well as cardiac and thymic development, as he explains later.

In other words, more research, more treatments, and more attention will translate into both higher quality of life for individuals and more acceptance for differences.  As with nearsightedness, more options empower individuals to make the choices that are right for them, which ultimately reduces, not increases, the stigma. It is not either/or, but and/also.

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