Ruby’s Journey with Weaver Syndrome
Donation protected
We have created a new account focused on Ruby for anyone who would like to donate to her ongoing therapies, medical research, travel, and special adaptive equipment she will need along the way.
Ruby was diagnosed with an extremely rare genetic mutation to the EZH2 gene; known as Weaver Syndrome. There is limited research and resources available on this condition as it has under 100 confirmed cases diagnosed worldwide. Everything that Ruby has experienced can be related back to symptoms/characteristics of Weaver Syndrome.
This condition does not have a cure. Care will mainly consist of managing Ruby’s symptoms. We are so fortunate to have had such an outpouring of support. Ruby has been receiving excellent care in therapies and we have been able to travel for additional consultations with specialists. In the upcoming months Ruby will be having a repeat MRI of her brain and will be traveling to Pittsburgh to meet with a vision specialist.
We are so thankful to everyone who has offered support throughout this past year. Ruby is thriving. She smiles all the time and her infectious laughter fills our home.
These funds will be designated directly to Ruby and her ongoing medical care.
If you would like additional information on resources for helping other kids just like Ruby please visit and consider donating to the following groups:
NORD (National Organization for Rare Disorders)
https://rarediseases.org/donate-nord/
Child Growth Foundation
https://childgrowthfoundation.org/donate/
Oishei Children’s Hospital of Buffalo Foundation
https://www.ochbuffalo.org/foundation/donate
Golisano Children’s Hospital
Ruby was diagnosed with an extremely rare genetic mutation to the EZH2 gene; known as Weaver Syndrome. There is limited research and resources available on this condition as it has under 100 confirmed cases diagnosed worldwide. Everything that Ruby has experienced can be related back to symptoms/characteristics of Weaver Syndrome.
This condition does not have a cure. Care will mainly consist of managing Ruby’s symptoms. We are so fortunate to have had such an outpouring of support. Ruby has been receiving excellent care in therapies and we have been able to travel for additional consultations with specialists. In the upcoming months Ruby will be having a repeat MRI of her brain and will be traveling to Pittsburgh to meet with a vision specialist.
We are so thankful to everyone who has offered support throughout this past year. Ruby is thriving. She smiles all the time and her infectious laughter fills our home.
These funds will be designated directly to Ruby and her ongoing medical care.
If you would like additional information on resources for helping other kids just like Ruby please visit and consider donating to the following groups:
NORD (National Organization for Rare Disorders)
https://rarediseases.org/donate-nord/
Child Growth Foundation
https://childgrowthfoundation.org/donate/
Oishei Children’s Hospital of Buffalo Foundation
https://www.ochbuffalo.org/foundation/donate
Golisano Children’s Hospital
Organizer
Tracy Goliszek
Organizer
Grand Island, NY