Rare Diseases South Africa has issued a heartfelt plea for South Africans to help a Californian family find a young boy in South Africa who happens to be the only person in the world to share an identical gene mutation with their 7-year-old daughter.
Both children have GM1 Gangliosidosis. In a message on their Facebook page, the NPO for rare diseases says “he is in South Africa and he is 6. The only other patient in the world is a little girl who wants to have a friend. Please share it!!! We need to find him! #HelpUniteGM.”
The little girl is Iris. Less than two years ago, in August 2013, her family was plunged into every parent’s nightmare when she was diagnosed with a terminal disease – a degenerative neurological condition called Juvenile GM1 Gangliosidosis.
According to the website that has been set up for Iris – SweetIris.org – GM1 is progressive. It’s inherited although Iris’ younger brother was fortunately born without it. This category of diseases includes more than 50 conditions. It’s estimated to occur in 1 in 360,000 newborns (with many children tragically passing away before it’s diagnosed).
One of those born with the disease is the little boy in South Africa. And not only does he have the same disease as Iris…but, according to her parents, he is the only documented case in the world of a child with the exact same genetic mutation as their little girl.
Earlier this month, Iris’ parents posted the below image with a request to “please help share this post to see if it can make it to South Africa. We would love to know more about this boy who has the same genetic mutation causing GM1.”
As the disease worsens, children with this condition suffer terrible seizures which consume their mind and body…and sadly, many of these kids finally succumb to pneumonia because their immune systems are so weakened.
Iris is not aware of the gravity of her situation, and her parents would dearly love to find a cure in time. (Potential gene therapies are being developed.)
“Iris is a strong and sweet girl,” says her mother Christine Waggoner. “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 to draw.”
The family, from Berkeley in the USA, would desperately like to be put in touch with the little boy and his family in South Africa.
Since posting their message, it has been shared by Rare Diseases SA a few days ago, and by a genetic scientist in South Africa who shared it amongst her genetics colleagues across the country, and others.
Tonight Rare Diseases SA posted a new message: “We still haven’t found him… Please let’s keep trying!”
If you are able to assist at all – please contact firstname.lastname@example.org or write directly to email@example.com.
Watch Video: Sweet Iris