Culture

Rare Disease Day 2018: #ShowYourRare to Show You Care

Rare Disease Day 2018. Image via Facebook.

Today is Rare Disease Day, which, fortunately, most of you only have to observe one day a year. For an estimated 30 million Americans (350 million people worldwide), however, Rare Disease Day is every day.

Forty percent of patients with rare diseases are misdiagnosed more than once, or their diagnoses are delayed for various reasons. There are more than 7,000 known rare diseases but, sadly, only five percent of them have a treatment. Research, therefore, is key to unlocking the cures for these often fatal diseases.

My youngest son was diagnosed at age eight with GM1 Gangliosidosis, a progressive and ultimately fatal condition. This dreadful disease slowly attacks nerve cells in the brain and spinal cord, destroying nearly every basic bodily function.

Chris was misdiagnosed at age four with developmental autism. It wasn’t until he started exhibiting physical symptoms at around age seven that we began a process that led to his correct diagnosis.  There is not yet a cure for GM1, but there are many promising research projects going on. Chris is currently participating in a clinical study for Miglustat, a medication that hopes to halt or at least slow the progress of the disease. He also recently started taking Tanganil-pro, an anti-vertigo drug manufactured in France. But neither treatment is a cure, and a cure is what is desperately needed because with progressive diseases like GM1, the clock is ticking and it’s a race against time.

Marilee Kay is a musician who has two sons diagnosed with GM1 Gangliosidosis. She expressed her anguish and heartbreak through song.

Christine Waggoner is a heroine in the rare disease world. Since her daughter was diagnosed in 2013, she and her husband have founded Cure GM1, a nonprofit entirely dedicated to funding GM1 medical research, raised $2.27 million, and initiated 4 research programs. “We raised the funds through large-scale grassroots fundraising and social media with a video appeal,” Waggoner said. “Still, money is standing in the way of a cure.” You can donate to this worthy cause here.

Every year RareDiseaseDay.org releases a video to draw attention to the plight of people who live with rare diseases.

This year’s video features patients and family members, researchers and doctors who show their rare. The video shows the wide range of people involved in the rare disease cause and together, with your support they can be a strong voice for greater progress in research of rare diseases.

Read stories of the stars of the video – 5-year-old Enzo, who is living with congenital myasthenic syndrome, Yara, a rare disease researcher, Annie, who is living with leber hereditary optic neuropathy, Alexandre, who is living with Fibrodysplasia ossificans progressiva, and his father Antoine. Thank you also to Zoé, who lives with Congenital myasthenic syndrome, Sylvain a doctor who has experience with diagnosis of rare diseases and Mirina who is living with Ehler-Danlos…

For those suffering from all types of rare diseases, research funding cannot come soon enough. On Rare Disease Day 2018, #ShowYourRare to show you care!