Reflecting [iv] | Genetic Diagnosis

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I don’t even know what normal is anymore…all we want is to be loved.

Simply said, all she had was a small deletion of 28 genes, out of 100,000, in one chromosome, out of 23. That was enough to cause distinct facial features, learning disabilities, and severe heart conditions. However, you wouldn’t notice talking to her. She had a way of working the room. That is another effect of this genetic mutation-these people have the most contagious smiles and the friendliest character of anyone you have ever seen.

This woman didn’t know she had this genetic disorder for 50 years. She was misdiagnosed, and suffered with the consequences, for 50 years. The Human Genome was completely sequenced in 2003. How could she have known if science could not explain it yet? That alone tells you how fast and how much we have advanced in the last decade.

I learned a brief history of the Human Genome Project from my Nucleic Acids Professor in university who actually took part in it. It was medicine vs business, humanity vs big corporation. Science institutes all over the world were steadily sequencing the human genome until a biotechnology company threatened to do it first and patent it, hence making human genetic information their own intellectual property. This was dangerous-how could a single company own what made us all human? In response, NIH reallocated their resources to focus on institutions that already made significant breakthroughs. Baylor College of Medicine, one of those institutes, was then able to open three floors purely for genetic sequencing, opening them up to 24 hour access, and started posting the sequence on a public server as soon as they got results, no matter day or night, to make the human genome public property. They finally finished sequencing the complete genome, correcting a few mistakes from their rushed publications, in 2003. The rest is history. Patients like the one I got to see today, who was misdiagnosed for fifty years, now know their diagnosis because of the genetic information we recieved from this genomic race. Thousands of patients with previously undiagnosed, misdiagnosed, or unknown disease can now finally find their peace.

The ability to constantly acquire knowledge, that’s the power of science and medicine. Learning to be empathetic, to find ways to improve the lives of those affected, that’s the power of humanity. All these little things are interconnected. We have to be proficient in the sciences to understand the underlying causes of disease but also proficient in the act of caring the humans affected with them. This woman now knows why she is the way she is, has found a medical team that can now accurately and effectively care for her, and has found a support group to lean on that understands her struggles. She has been able to connect with other people with the same genetic condition, has been able to use her experiences to advocate constantly expanding the field of genetics, and speaks to medical students to remind us that at the end of the day, whether a person has molecular mutation or not, a disease or not, an illness or not, everyone deserves to be treated with the same humility, respect, and love. It’s incredible, really.

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