Help Fund Life-Changing Research for Iris

Iris was diagnosed with Juvenile GM1 when she was 5 and a half years old. Her diagnostic odyssey lasted 2 years and she was misdiagnosed twice. Around age 3, Iris first displayed some very subtle symptoms such as lack of coordination and minor issues with speech. At the time, doctors said her development was normal regardless.

The first time she saw a neurologist, the doctor said nothing was wrong. This neurologist told her parents to simply continue speech and occupational therapy. Worse, this particular neurologist also told her parents that further testing would be inconclusive and likely useless.

Iris was misdiagnosed again by a developmental pediatrician who said she had athetoid cerebral palsy, but only a very mild case. 

Iris parents were not worried at the time because cerebral palsy is not progressive and because the doctor said it was so mild. However, Iris’ condition continued to deteriorate.  Her pediatrician was extremely alarmed by changes in her walking at age 5.

Iris was then properly diagnosed by another neurologist with a very small office off the beaten path. The diagnosis was made using a simple blood test which was a panel for lysosomal storage diseases. This blood test detected an enzyme deficiency of beta-galactosidase. Her diagnosis with GM1 Gangliosidosis was then confirmed by a geneticist through DNA analysis of the GLB1 gene.

Iris’ parents co-founded the Cure GM1 Foundation in April 2015 in honor of all those who suffer from GM1 Gangliosidosis. Iris and her family fight everyday against this devastating disease.  Iris’ story is an example of deep love and an ongoing battle to advance medical research from bench to bedside. This battle is a race against time for all those who suffer from this awful condition.

Iris is known for her sweet smile and vivacious personality.he gives the best hugs and still manages to find joy despite GM1’s continuous assault on her central nervous system.

What is GM1 gangliosidosis? 

GM1 Gangliosidosis (GM1) is a rare inherited genetic disorder that primarily affects children. It has many debilitating ramifications, some of which are developmental regression, mobility deterioration, seizures, visual impairment, and neurodegeneration. This is a fatal disease that currently has no cure or effective treatment. The thousands of diagnosed children and adults who suffer from GM1 face the progressive loss of skills and abilities until death.

Learn more about Iris' experience with GM1 in the video below

Why are we fundraising? 

Funding research for ultra rare diseases is incredibly difficult. Because there are so few children suffering from GM1 gangliosidosis, the job of raising money and advocating for research for GM1 falls on our ultra rare disease community. Currently, we are raising money for a potential treatment called Enzyme Replacement Therapy that could exponentially improve outcomes for Iris and hundreds of other children living with GM1 gangliosidosis. 

Please donate to the Cure GM1 Foundation to fund the development of potentially life-altering treatments for Iris and other children suffering from GM1 gangliosidosis.