The organisation for Rare Diseases South Africa together with the US family issued a heartfelt plea for the parents of a little boy to come forward as he is suffering from the same disease as their daughter.
According to reports, the little boy is one very few people in the world to have been diagnosed with the disease Juvenile GM1 gangliosidosis. He also has the exact genetic mutation as little Iris, the US family’s seven-year-old daughter, Iris.
Juvenile GM1 gangliosidosis
Iris was diagnosed with Juvenile GM1 gangliosidosis in August 2013, and since then her parents, Christine Waggoner and Douglas Dooley have dedicated their time and energy into raising awareness, and funds to research the disease.
Just two weeks ago, they found out that a six-year-old South African boy had also been diagnosed with the disease, and has the exact same genetic mutation as Iris.
Juvenile GM1 gangliosidosis “robs children of nearly every skill and bodily function required to live,” explain Iris’s parents on her website, www.sweetiris.org.
“An insufficient amount of the enzyme beta-galactosidase is produced by the body. This dysfunction results in cell death, particularly in extremely fragile neurons and spinal cells.
“Many of the children lose the ability to speak, to swallow, and to move their limbs. Some become blind and deaf. The list of possible complications is truly scary.”
Iris needs a friend
They want to find the South African boy so that scientists working on a treatment are able to use information from more than one patient. “A second subject is needed to confirm certain avenues of research, so the South African boy could hold the key to a breakthrough,” said Waggoner. They would also like Iris to have a friend that she can relate to.
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