He’s such a happy little guy!
Our son Nathan Harney is 4 years old. He is a wonderful, happy baby who has beautiful blue eyes, a huge personality, and is the light of our lives. He is a gentle soul that we have been blessed with. He was initially diagnosed with a developmental delay somewhere around 10 months old. He does not walk, he no longer stands or rolls over, and can no longer sit unassisted. He does, however, yell “up” when he wants to be picked up, wiggles like crazy when his daddy sings to him, yells “whoa” every morning in his crib when he wakes up, and still says “oh ma ma” when he cries. He has a huge heart for such a little guy, and his smile can light up a room.
We began to notice at an early age that he was losing skills. We went to specialist after specialist seeking an answer and help. A neurologist we found for a second opinion referred us to an ophthalmologist and ordered genetic testing. After seeing ophthalmology, our neurologist told us that because Nathan had something called cherry red spots on the macula in his eyes, he had a degenerative disease, and most likely had a very short life span. Needless to say, my husband and I didn’t know what to do with ourselves- we were beyond distraught.
Nathan’s EEG showed that he had been having consistent seizures, though we were not aware. He’s had 2 seizures that were visible so far- one in January of this year, and one over memorial day weekend that required a 5 day stay at children’s hospital. Nathan had developed aspiration pneumonia, and required breathing assistance when he first arrived at the hospital because he was not breathing on his own. It was one of the worst days of our lives.
After Nathan’s genetic testing came back, we finally got a diagnosis - Nathan had Tay-Sachs Disease. Tay-Sachs is a genetic condition that has no cure as of yet. Children with Tay-Sachs lose skills and motor function and ultimately die by the age of 3-5. While Tay-Sachs was once thought to be a disease linked to Ashkenazi Jews, new research shows that this disease knows no ethnicity and in fact, 1 in 50 Irish Americans are carriers of Tay-Sachs, with further links to Creole and French Canadian populations. Who knew that only 3 words could knock the breath out of you, make you question God and everything you had ever believed, and leave you feeling more helpless than you knew it was possible to feel. But we have hope.
There is a very promising line of research currently being conducted by the Tay-Sachs Gene Therapy Consortium, a group of scientists, doctors, professors, and geneticists. They have currently cured a mouse and a cat, with excellent signs in sheep as well. The concept revolves around using virus vectors, or “trucks”, to get past the blood brain barrier, delivering Hex-A, the enzyme lacking in Tay-Sachs patients. The lack of the enzyme causes fatty tissue to build up around your brain’s “wiring” in the cells, which in turn, causes the inevitable breakdown of your systems.
This disease will not break our family. We are tough, and Nathan is tougher. We have a plan that begins with keeping our son as healthy as possible, and raising enough money to push Tay-Sachs gene therapy research from animal to human trials. We would move heaven and earth to save our son, and we plan to do just that.
Nathan is an amazing little boy, and we love him so much. We can FIX this- we are so close to a cure- please help us save our son and all those other brave children and families who are living with this diagnosis. Please help us to honor all those families whose own little angels have already been given their wings.
We are in a race against time...