"#rareGENEius 2017" Men's Tee

Regular price $40

This is for Sarah. Sarah is a horse trainer in Northern California with a rare genetic disorder that currently does not have a cure.

At age 20 Sarah started to notice the early signs of what would become some significant physical limitations. She noticed a decreased muscle mass and an increase in anxiety and stress. This would lead first to an abnormal gait and a reduced ability to function normally in everyday physical activity that the rest of us take for granted such as running, walking up or down stairs, getting up from a sitting position, squatting or kneeling. She soon found that she was prone to sudden falls, leading to scrapes, bruised knees, ripped jeans, and shattered confidence.

Following some very invasive medical testing that included muscle biopsies and a spinal tap, Sarah was formally diagnosed with Late-Onset Tay-Sachs Disease just before her 28th birthday. Since then, her symptoms have continued to progress making everyday life increasingly difficult -- especially for a passionate horse trainer.

Tay-Sachs Disease is defined by a mutation in the hexosaminidase subunit alpha (HEXA) gene. The HEXA gene is responsible for the production and regulation of the HEXA enzyme, which, in turn, breaks down the GM2-ganglioside lipid within the body's cells. With a reduction in the enzyme, this lipid accumulates in the brain and nerve cells leading to the death of these cells and an irreversible deterioration of the central nervous system. Six weeks ahead of Sarah's 30th birthday, her HEXA enzyme is functioning at 9% according to recent genetic testing.

There is no treatment or cure for Late-Onset Tay-Sachs Disease, but there have recently been encouraging advances in research and investigational therapies. Gene therapy has shown the most promising results. Theoretically, gene therapy allows for a defective gene to be replaced by a normal gene, enabling the proper production of the HEXA enzyme. The NTSAD, with its Scientific Advisory Committee, directs, funds, and promotes research to develop treatments and cures. Through its Research Initiative grant program, it identifies promising new therapeutic approaches to fund.

On October 26th, we will be celebrating Sarah's 30th birthday with the hope that progress in research efforts may be able to prevent further progression of the disease. As of today, Sarah keeps the reality of this disease private, instead opting to hope people at work, friends and family will continue view her as "typical" and able-bodied. She hopes to be able to live a long life that allows her to continue to walk, drive and do the work she loves.

To honor Sarah and the #2017DayofHope, Denizen Apparel is proud to be supporting Sarah's research fund in its first ever giving campaign with a custom-designed #rareGENEius tee. For each tee sold, $10 will be donated to Sarah's fund. If you'd like to show your support for the #2017DayofHope and raise awareness for Late-Onset Tay-Sachs Disease, you can purchase a #rareGENEius t-shirt here. And to donate directly to Sarah's fund, you can do so through her NTSAD page.