One of my favorite quotes is from Mother Teresa: “None of us, including me, ever do great things. But we can all do small things, with great love, and together we can do something wonderful.” Tough Like Taylor’s parents had an opportunity to travel across the pond at the end of June to attend the 3rd Annual PURA Syndrome Conference. The conference was held in the United Kingdom at the Wellcome Genome Campus, home to the Wellcome Sanger Institute, which is one of the leading genomic research centers in the world. One third of the human genome was sequenced for the first time on this campus, which provided the largest single contribution of any center to the Human Genome Project (HGP)……pretty cool stuff. Way over my head…..but pretty cool.
The Human Genome Project, initiated in 1990, was a massive endeavor, with a goal of completely mapping and understanding all the genes of human beings within 15 years. The project was an international and collaborative undertaking; bringing together researchers and scientists from several different countries. In 2003, an accurate and compete human genome sequence was finished and made available. The goals of the project have since expanded and the hope now, is to gain a deeper understanding of how the human genome contributes to disease, as well as the ability to treat and prevent disease. And the project continues to help pave the way for more accurate diagnosis. (Without the completion of the HGP, we would not have a diagnosis for sweet Taylor).
The Wellcome Genome Campus is a hop-skip-and-a-jump from the University of Cambridge which has a very long and distinguished history of researchers and scientists (think Sir Isaac Newton, Sir Francis Bacon, Sir Ian Wilmut, Jane Goodall, Stephen Hawkings, etc., etc., etc.). The Wellcome Sanger Institute continues to work collaboratively with universities and other research centers around the world in an effort to broaden understanding of the human genome and the role it plays in health and disease.
We are grateful to have had the opportunity to meet several researchers and clinicians from the PURA Syndrome Global Research Network, an international network of researchers and clinicians. The researchers did an excellent job at explaining extremely complex scientific concepts (i.e. “induced pluripotent stem cells”…..say wha’?!) These individuals made an extraordinary effort to attend this conference and made themselves available to speak with parents and answer questions. These researchers showed great empathy and tact in their responses but were also very direct about the realistic direction of future research. I found it incredibly meaningful that they were willing to work WITH US and to stand BESIDE US in this journey, as well as their commitment to collaboratively working with one another.
In addition to making personal connections with researchers and clinicians, it was phenomenal to meet with other PURA families from all over the globe. I had made connections with some of these individuals online but there is nothing more special than face-to-face connection. We sat together and shared information about our kiddos, looked for guidance from those around us, shared ideas regarding adaptive devices to help our children move and speak, and commiserated about the struggles of raising a child with a rare condition. I had the privilege of meeting another PURA mommy, one of the first diagnosed families, who, in my opinion, is a one-woman-force-of-nature. My understanding is she almost single-handedly brought together the PURA Syndrome Global Research Network when there were only a handful of diagnosed PURA cases worldwide. Per the researchers, she continues to rule over them with an iron-fist, though the mutual respect is palpable. This particular PURA mommy is not the only parent that recognized the importance of bringing people together. There is an online community for support and a Foundation with a Board. All of this has been accomplished in just three years. On the PURA Syndrome website (www.purasyndrome.org), you will find the quote, “Together we are family.”
It is inspiring to see so many people come together to work toward a common goal and is equally encouraging to see what can be accomplished when people join forces and put energy and intellect into a project.....the Human Genome Project was completed TWO YEARS ahead of the original schedule AND under-budget. PURA Syndrome was first described in medical literature in 2014 and just two years later, the 1st Pura Syndrome Annual Conference was held in the United Kingdom. There is some serious power in numbers. Each individual plays a role. We each serve a purpose and have a function, but we are working together in a much larger scheme and what we are capable of together far exceeds our individual accomplishments. Helen Keller said it best, “Alone we can do so little; together we can do so much.”