Rare Disease Day is February 28th. One mom’s quest for a cure
We were told nothing was wrong with our Iris before the age of 5 1/2.
As with many parents, in early childhood, we worried. Iris is our firstborn. When she seemed to hit minor developmental issues, her pediatrician — who didn’t seem that concerned — recommended occupational therapy. The occupational therapist referred a speech therapist. The speech therapist referred us to a neurologist. The neurologist said nothing was wrong. The pediatrician then referred us to a developmental pediatrician. The developmental pediatrician referred us to a second neurologist. The second neurologist referred us to a geneticist.
For two years, no one found anything wrong with our sweet Iris. But at her preschool graduation, there was a sign language performance and our daughter could not form the signs with her fingers. Finally, after DNA analysis, the geneticist confirmed that Iris was slowly dying. It was was August 23rd, 2013; she was just 5 ½.
The diagnosis was for an inherited disease called GM1 Gangliosidosis, a progressive and fatal condition, sometimes thought of as pediatric Alzheimer’s or pediatric Parkinson’s. GM1 slowly attacks the brain and spinal cord, destroying nearly every basic bodily function.
Fast-forward 4.5 years: Iris just turned 10 this month, Rare Disease Day is today and we’re still racing against the clock to save our daughter’s life. Thankfully, she has the juvenile form of the disease and the reduced severity of the juvenile onset bought us some extra years. But the truth is, we’re running out of both time and money. While we’re fortunate to have good health insurance, we pay out of pocket for all the various co-pays, therapies and specialists. But we had insurance twice deny an off-label prescription that Iris needed that cost upwards of $300,000 per year; it took us sending hundreds of pages of documentation for them to finally approve it. Because of the time it takes to help Iris, my husband had to quit full-time work, doing consulting at night to help us earn extra money. My income — I work in computer graphics and animation as a simulation supervisor — mostly supports our family.
My husband and I founded the first and only nonprofit entirely dedicated to funding GM1 medical research called Cure GM1. By establishing our foundation, Cure GM1 has 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. Still, money is standing in the way of a cure.
We live in a time where great advances in understanding genomics are taking place. The first gene therapy for an inherited disease was FDA-approved recently. Yet, these breakthroughs still feel nascent. Simultaneously, a breakthrough for GM1 feels within reach– it has a long history and promising research behind it — but also completely out of reach due to the high cost of gene therapy research.
Someone once asked me: “Why does any of this matter?” I’ve also been told, “so few people are impacted.” And yet statistically, thousands are dying from GM1. It kills everyone affected by it, with nearly all those impacted being children.
The truth we have uncovered in our fight for our daughter’s life is that rare disease is not rare at all. There are more than 7,000 known rare diseases, 95% of which have no treatment or cure. One in 10 people suffer from rare disease and the unmet need for treatments is staggering. The costs and strain on the government and healthcare system due to these needs represents a health crisis for millions.
Today on Rare Disease Day, pause for a moment and think of the people you know. While they may not discuss their condition with you, chances are you know someone impacted by rare disease. The potential for breakthroughs is still hopeful. The impact of discoveries in rare disease research could even apply more broadly to common conditions. But only awareness of this issue will bring adequate funding.
For now, we continue to fight for every hard-earned penny towards a cure for GM1 while also hoping an angel donor will arrive soon. The clock is ticking and our sweet Iris’ life depends on it. Click here to learn more about GM1 Gangliosidosis.
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