Ethan was born on September 28, 2016, to Melissa and Holden Duchon, becoming little brother to sister Ella. As a baby, Ethan LOVED to eat, snuggle and smile! At 5 months old, Ethan had his first hospitalization for pneumonia. It was the start of a long journey of testing, imaging, and misdiagnosis to discover the rare illness behind his mysterious symptoms.
Following Ethan’s first birthday, his parents noticed he was missing more and more developmental milestones. They were concerned about his hearing, speech and mobility. The ENT doctor identified that Ethan's ears were clogged and he had 50% hearing loss. He proceeded to be fitted with hearing aids and began speech, occupational and physical therapies at 20 months.
In February 2019, after several surgeries, hospital visits and many months of therapy, Ethan was not showing any significant signs of improvement. At this point, he was referred to a geneticist for further investigation. On June 24th, 2019 Melissa and Holden received the most devastating news of their lives; Ethan was diagnosed with multiple sulfatase deficiency (MSD).
Since his diagnosis, Ethan has shown significant regression as his symptoms continue to worsen and progress. He has lost all mobile & cognitive abilities and recently underwent surgery for a feeding tube. Our family has been through an incredibly difficult time facing this unimaginable reality that this disease could end our son's life. However, through faith, and with the support and generosity of our family and friends, there is hope!
WHAT IS MSD?
It is an inherited genetic disease that inhibits the body's natural ability to dispose of cellular waste.
LESS THAN 100 CASES OF THIS ULTRA RARE DISEASE ARE KNOWN WORLDWIDE.
HOW DOES IT WORK?
The SUM1F gene, also known as the master gene, is responsible for encoding a protein called sulfatase modifying factor 1. MSD patients have NO SUMF1 gene or have problems with it.
THERE IS NO CURE!
17 Sulfatases (enzymes) get to work breaking down the trash that every cell in the body makes daily. Without this process, the body won't survive.
Waste builds up over time, clogging vital systems such as the brain, muscles, eyes and more preventing them from working properly. This leads to developmental delays and loss of motor and communication skills and many other debilitating symptoms.
There is no existing treatment or cure for MSD.
GENE THERAPY could help slow the progression of the disease and possibly deliver a cure for ETHAN and children like him.
STRENGTHAN was founded to bring awareness to this debilitating disease in the hopes of being able to raise funding that will progress research and treatment options for MSD patients like Ethan.
Our goal is to fund research, spread awareness and ultimately, find a cure.
With your generous donation, you can help #cureMSD and #strengthan the quality of life and chance of survival for all children suffering from this disease.