What is GM1 Gangliosidosis?
In English: GM1 is a type of lysosomal storage disease. It's rare, genetic, progressive, fatal, and there is no cure. Here's a little two minute informative cartoon, "Genetics 101- Leslie Lysosome."
In Medical Speak: GM1 is an autosomal-recessive metabolic diseases caused by a deficiency of the protein enzyme bata-galactosidases needed to break down fatty substances called lipids. Excess lipid materials build up to harmful levels in the central and peripheral nervous systems, particularly in nerve cells.
How rare is rare?
It's hard to find existing statistics because it is so scarce and the lifespan of children is so short. According to the CDC, NIH and Orphanet, the prevalence and incidence of GM1 is listed as "unknown." Our geneticist stated that the odds of winning the lottery are significantly better than the chance a couple will both be carriers of the disease. During Cooper's lifetime, we were only able to find and connect with five other families around the world who also had a child living with GM1.
How old was Cooper when he died?
Two years and eleven days.
Do you have other children?
No, not at the moment. Cooper was our first and only child. After learning we are gm1 carriers, family planning has become a little complicated.
What is the best piece of advice anyone has shared with you?
There are no right or wrong choices, only what works for your family.
How did you do it?
I never know how to answer this. I feel like we lived day to day, moment to moment, a constant state of new experiences and perpetual learning. As parents you would do anything for your children and that doesn't change when there are special needs.
