Gangliosidosis is a lipid storage disorder caused by the accumulation of lipids known as gangliosides. There are two distinct genetic causes of the disease. Both are autosomal recessive and affect males and females equally.
After learning our two boys had gangliosidosis we quickly learned the lack of information and support available regarding these disorders. Read about ours and others experiences.
Due to the rare nature of these disorders funding is desperately needed in order to advance the research and find more treatment options.
Day 21- March 20th, 2015Learn more and help Iris athttp://www.sweetiris.org GM1- Gangliosidosis - a rare degenerative and neurological disease affecting children30+ miles, Fredericksburg-Unionville, VA area for sweet Iris and the Dooley family from California- "Iris is a strong and sweet girl. She wrangles with her little brother Carter on a regular basis, as any big sister should. She has a beautiful smile and a contagious giggle. She loves orcas, dolphins and a good laugh.In August 2013, our family experienced every parent’s worst nightmare. Iris was diagnosed with a terminal degenerative neurological condition called Juvenile GM1 Gangliosidosis. We were completely blindsided. We had been told that Iris’ development was normal, despite troubles with speech and her motor skills. This school year, there is now evidence that the disease impacts her learning.The only suggested medicine that exists may possibly slow the disease, if that. It is not even FDA-approved for this specific disease. Many people have tried the medication with limited success or they experienced no benefit at all. There are no treatments for this condition other than comfort measures and symptom management.GM1 is progressive. The disease worsens with time. We do not know what the future holds. We hope Iris will live many more years, perhaps into her teens or even her twenties. But we do not know how her quality of life will be maintained. If there were a choice between quantity or quality, what would one choose? We know the inevitable course this disease takes. There are no guarantees. We cherish every moment and we take nothing for granted.Each day is a new beginning. We are hopeful that somehow we can contribute to a cure. However, we are fighting in a race against time.This disease is not specific to any race, ethnicity or individual group. We are a typical family with a very grave concern. We have an enormous amount of love for our sweet girl. " - The Dooley Family from CaliforniaPosted by Noah Coughlan on Friday, March 20, 2015
I came back inside and started to clean my house. Shortly after, Dr. Aleck (a biochemical Geneticist we had seen in Phoenix, Arizona) called me. He said "I have a diagnosis for your two boys, but it isn't too good." I felt excited that we would have a diagnosis and then, "but wait, not Evan too?" He told me they both had Gm1 Gangliosidosis late-infantile type, based on the age of onset, probably not the juvenile type. He had to spell the word for me as I wrote it down. He told me that Eli is unable to process a certain Enzyme, so his body stores that enzyme in the spinal chord and brain. Over time it builds up and causes nerve damage.
I asked him what it all meant. He said, "In terms of prognosis, it is unlikely that he will make it to adulthood." I paused and my heart sank...