Did you know that October is Down Syndrome Awareness Month

Abigail Agudelo entered the world with strawberry blonde hair and shining crystal blue eyes. Yet, within a short hour or two, it became clear to the nurses and doctors at Beth Israel Medical Center in Boston that newborn Abigail required emergency attention. They found that she was deoxygenating (losing oxygen in her bloodstream), immediately put her on oxygen, and set to work to find out the cause for the issue. What they learned after several tests, including genetic blood tests was that Abigail had Trisomy 21, otherwise known as Down syndrome. 

Typically, newborns born with Down syndrome have very distinct features. Upward slanting, almond shaped eyes, shortened fingers and toes, among others. Abby wasn’t that obvious. For that reason, her parents didn’t learn of her diagnosis until nearly a week after her arrival. At that moment, Anthony and Wendy Agudelo became empowered to take the next steps as new parents. And those steps were the first taken on a now 8 -year journey as Team Abby’s Cadabbies!

This past weekend, as part of Down Syndrome Awareness Month, Team Abby’s Cadabbbies – led by Abby herself -- laced up their sneakers to walk the circumference of Lake Quannapowitt in Wakefield in support of the Massachusetts Down Syndrome Congress (MDSC) Buddy Walk.

"The Buddy Walk is one event that brings together so many like-minded people in celebration of what we already know, that Down syndrome is simply a medical diagnosis that bonds us together,” said Tony Agudelo, Abby’s father. “Awareness is not the main focus for us as Down syndrome is becoming more common. What isn’t common is the understanding that people with Down syndrome can and are accomplishing significantly more than historic stereotypes would lead us to believe.”

Agudelo’s poetic insight rings true for many families whose adult children with Down syndrome are today living out completely full lives as political pundits, authors, motivational speakers, entrepreneurs, record holders, fashion models, athletes and even homecoming queens and kings.  For example, some may recognize Lauren Potter (Becky from the hit series, Glee), or Bay State actress Ashley Wolfe, who acted alongside Cicely Tyson and Farrah Fawcett in Jewel. Both women have Down syndrome.

John Anton, a Massachusetts resident, currently works as a lobbyist within State Representative Tom Sannicandro’s office, and spent several months in Washington, D.C. earlier this year living out a lifelong dream by advocating for disability policy at the highest level of government and self-documented his journey:  http://www.mdsc.org/aboutus/RealLife.cfm?blogtypeid=1 .  While in DC, Anton interned for Congresswoman Cathy McMorris Rodgers, Chair of the House Republican Conference and co-chair of the Congressional Down Syndrome Caucus, who is mom to a 5-year old son with Down syndrome. 

And, the list could go on to include hundreds of others such as Karrie Brown, who earlier this year, became a nationally-recognized model for women’s clothing store, Wet Seal. Or Jonathan Stoklosa of Delaware, who has earned championship status for powerlifting.  Even Abigail has made her mark by gracing the covers of newsletters, regional magazines and newspapers, while also starring in the Emmy-award nominated sign language education series, Signing Time. Her pioneering efforts have continued in her own community as last year, she became the first and only child with Down syndrome to be accepted to Saint Augustine School in Andover.  

According to St. Augustine School Principal Paula O’Dea, “Having Abby here has been an incredible privilege. We are learning so much as administrators and educators, and the children are gaining valuable knowledge about the uniqueness of our communities.”

O’Dea went on to suggest that it isn’t that St. Augustine School wouldn’t accept children with special needs, they simply haven’t been approached by many families interested in attending. In recent years however, a growing number of children on the Autism spectrum, including Asperger’s, and other physical challenges or delays, have in fact become members of the student body at St. Augustine School. And more importantly, each has successfully navigated and graduated from the school which supports nursery through Grade 8. 

Breakthrough Research Divides Down Syndrome Community

Research released in late summer from scientists from the University of Massachusetts Medical School stirred the Down syndrome community with findings suggesting that we now have the ability to silence the expression of most of the genes on the third copy of the 21st chromosome—which causes Down syndrome—also recognized as Trisomy 21. Though the work is still in its early stages, the expectation is that it will eventually make possible treatments that address the central issue of Down syndrome, rather than simply its symptomatic manifestations.

The study revealed in the journal Nature, talks of ‘chromosomal therapy’ for people with Down syndrome. According to the paper, a futuristic goal of this new research is to better understand the connection between Down syndrome and Alzheimer’s disease. 

For decades, scientists have known that people with Down syndrome were at increased risk for developing Alzheimer’s disease—yet they didn’t know why. Some researchers now believe that understanding the connection between the two conditions might help unravel the Alzheimer’s puzzle and point towards therapies that might slow, or even halt, the dreaded disease.

The research, led by Dr. Jeanne B. Lawrence, a professor of the department of cell and developmental biology at the University of Massachusetts Medical School, uses a gene called Xist. The scientists used skin cells from a Down syndrome patient that had been ‘tricked’ into reverting into stem cells that, like embryonic ones, can grow into any type of tissue. Once inserted into the stem cells, scientists switched on Xist using the antibiotic tetracycline, setting off a process that effectively silenced the extra chromosome.  Lawrence said.

Massachusetts Down Syndrome Congress (MDSC) Executive Director Maureen Gallagher said, "It's important for us to understand that any direct therapeutic implications as a result of this new research is many years away and that it will bring with it many ethical and emotional issues for the Down syndrome community." 

As with most new developments however, people and their opinions are already beginning to take sides. Parents of children with Down syndrome can even have split decisions whereby one parent is in favor of the future of gene therapy and testing on their child in an attempt to reduce the impact of Down syndrome, while the other parent feels more threatened about the potential implications and lack of knowledge that testing brings with it.  

“The research, which closely follows the release of early detection prenatal blood tests for Down syndrome, targets a specific demographic of people which includes my only daughter,” said Wendy Agudelo. “I personally find it offensive that medical research has enjoyed the investment of billions of dollars over decades to uncover the origins of cancer – a fatal disease that kills hundreds of thousands of people—with no success, yet in less than two years, we can now detect Down syndrome and even ‘silence’ it?  Medical research is investing in eradicating a population of individuals that live full and equal lives to neurotypical counterparts, yet failing to advance research that may save the lives of and billions of dollars in treatments for individuals with fatal diseases. It simply does not make sense to me.”