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. The progression of the disease is now clear. We fear the impact of the condition ranging from seizures, blindness, deafness, and the inability to eat, speak and move.
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.
Our goal is to raise awareness and funds to support scientific and medical research for GM1 Gangliosidosis. We want to to help all those who suffer from this disease.
We believe a cure is within reach given adequate resources.
Research and Possible Cures
Research is advancing on multiple fronts globally. These efforts require financial support.
In an incredible burst of fundraising at the beginning on 2015, we were able to fund cutting edge gene therapy research at UMass Medical School and at Auburn University in Alabama. Auburn and UMass are collaborating to bring this research forward. The therapy being developed could cure children in a single treatment.
Learn more about the GM1 research at Auburn University. Learn more about research at UMass Medical School. Both schools have wonderful research programs and further research funding may be beneficial.
We are also in direct contact with several teams of researchers who are developing compounds known as pharmacological chaperones. These are compounds that may repair the misfolded proteins that are normally responsible for proper metabolism of ganglioside in the central nervous system. One of the primary researchers recently tested the compounds in development on a sample of Iris’ very own cells. The improvement in the cells was dramatic, but human clinical trials have not been initiated.
There is also an American team developing what is known as enzyme replacement therapy. All the research teams have some funding, but the primary issue is taking the research beyond academia and to clinical trials. Manufacturing is costly as are the preparations to apply to be approved for a clinical trial in humans.
We must contribute in any way possible to bring these treatments forward.
Help Sweet Iris and Donate
We as parents are advocates for our children. We strive to protect our children. We make every possible effort to shield them from pain and suffering.
We do not want to question “What if we had asked our friends, families and the world for help? Could we have done more?”
Every moment that passes is one step closer to further degeneration. This disease is relentless and cruel. Rare diseases and this category of conditions afflict far too many people.
Every second that goes by, we could be closer to an end to GM1! All donations, small or large count towards raising funds. All kind thoughts and prayers are appreciated.
THANK YOU from the bottom of our hearts for reading and to anyone who is willing to help us in this enormous fight for life!