Denim Blue Jeans Ribbon To Symbolize Rare Disease Awareness; New Campaign of Jeans and Genes A Perfect Fit!
The Rare Disease community now has a powerful and universal new symbol to rally around — a blue jeans denim ribbon created by the Global Genes Project and the Children’s Rare Disease Network. The worldwide initiative lauched today and is focused on raising awareness for millions of children living with rare and debilitating diseases like Addi and [...]
Mom Finds Experimental Drug for Twins’ Fatal Cholesterol Condition; FDA Approves Treatment Under Compassionate Use Program
Good Morning America reports on the Food and Drug Administration’s approval of Addi and Cassi’s compassionate use Investigational New Drug Application to give them intravenous infusions of cyclodextrin, a non toxic sugar compound found in everyday food products. Cyclodextrin may have the ability to remove trapped cellular cholesterol from Addi and Cassi’s brain, liver and [...]
We have recently learned from the Mayo Clinic that our twins Addi and Cassi have one Niemann Pick Type C gene mutation that has been identified in their bodies — it’s called Exon 12 DNA Change 1920delG. This DNA sequence change (or deletion) is a “known pathogenic mutation in the sterol-sensing domain.” The 1920delG mutation [...]
I am posting this message to the entire world to let everyone know that Hugh and I will not sue any doctor, scientist, researcher, hospital or non-profit if anything happens to Addi and Cassi as we embark on trying experimental treatments to save them from Niemann Pick Type C disease. No matter what happens during [...]