Researchers at the University of Massachusetts medical school have reportedly made a breakthrough in learning how to silence the extra chromosome that causes Down syndrome. Down syndrome is also known as trisomy 21, as it is caused by the inheritance of an extra copy of chromosome 21 beyond the normal pair received from the mother and father. The researchers used a natural “off switch” for shutting down an X-chromosome in women, which when inserted into the extra chromosome caused it to be coated in material so that its function dropped to near-normal levels of chromosomal activity.
The UMass researchers performed their experiments using induced pluripotent stem cells (iPS) derived from a Down syndrome patient. iPS cells “turn back” adult somatic cells to become similar to the potential-rich stem cells researchers previously could only obtain from destroyed embryos. That discovery won Shinya Yamanka the 2013 Nobel Prize in medicine, and was hailed by scientists, ethicists, and pro-life activists alike as a way forward for science that did not raise any of the ethical concerns of human embryonic stem cells.
Dr. Jeanne Lawrence, one of the UMass researchers, describes the importance of her discovery as aiding controlled research of Down syndrome cellular function in the short-term, and making chromosomal therapy at least conceivable in the long-term.
The New Atlantis published one of the best essays on Down syndrome in 2008: Caitrin Nicol’s “At Home with Down Syndrome,” where she notes that despite the muscular and cognitive impairments that come with the syndrome, ”individuals with Down syndrome generally have outstanding social skills and in a supportive setting can be fairly high functioning.”
She continues, “adoption agencies report a high demand for children with Down syndrome. However, the abortion rate for fetuses diagnosed with Down syndrome tops ninety percent,” as “obstetricians are not well trained in explaining the diagnosis and have little if any clinical experience with individuals with a developmental disability.” With little access to parents of Down syndrome children, and faced with a barrage of forbidding statistics about the prospects for their child’s quality of life and the success of their marriage, ”the majority of expectant parents fall into a vortex in which abortion is offered as the sensible way out.”
In their efforts to get the word out that an extra chromosome is not a tragedy, parents and advocates describe the incredible warmth and social gifts that their child with Down syndrome brought into their lives. Indeed, they can sometimes risk idealizing distortions, as when “one astonished woman was informed by her mother-in-law that her daughter is the Bodhisattva.” Nicol notes, ”putting people on a pedestal, however well intended, makes them seem not quite human. But, as Avery’s grandmother notes, the special talents of people with Down syndrome may lie in what is most human — ‘they seem to bring out the good in people,’ she says.” Another parent described how “we were so scared of what life with Riley would be like, and now the scariest thing I can imagine is what my life would be like without him.”
‘Wouldn’t it be wonderful,’ another proud big brother asks in Gifts, ‘if every family had a kid with Down syndrome?’
That question, of course, does not express the wish that more children would struggle with disabilities, but rather that more families might find within themselves the means to understand, and to transmit to future generations, the profound truth that every life is filled with meaning, and every child is a source of joy. The deepest consequences of that discovery, it seems, have to do not with the recognition or acceptance we might offer to those who are disabled, but with the strength, compassion, happiness, and wisdom we might gain by the discovery itself, and by our acting on it. The ruling emotion that unites all the various stories told in these books is gratitude, and the reader cannot help but be left grateful as well, for the strengths on display in these stories of children with Down syndrome and of their families are the strengths we today can least do without.
Let us hope that this latest discovery continues in the tradition of Down syndrome research that should encourage prospective parents that their children will be well cared for, and that helps people with Down syndrome to live haler, healthier lives. Let us hope, too, that we can cherish our children in all their giftedness, no matter what particular hardships they may face.