As you may remember, we have been trying to find the source of Cecilia (age 8) and Lilly's (age 6) vision loss through genetic testing. We got the results back on January 3rd. Cecilia has tested positive for a mutation on her 16th chromosome on the gene known as CLN3. Lilly also has the same symptoms of vision decline, but has not officially had the genetic testing. Lilly, Nora, Ruthie, and Zelie will all be tested within the next month or so.
A mutation on CLN3 is a diagnoses of Batten Disease. Batten disease is a neurodegenerative disorder. There is no treatment, there is no cure, it is fatal. It is usually first diagnosed with vision loss. Eventually, they will develop seizures around age 9. Dementia symptoms including mood and behavior changes will present. Their muscles will weaken to the point where they will no longer be able to walk or talk and will be bedridden. Eventually, they will need a feeding tube as they will no longer be able to feed themselves. And then, eventually, they will die. The lifespan for this horrible disease is late teens to early twenties.
Needless to say, we have been in a state of grief, shock, anger, and sadness. This news is life changing in so many ways. We have not told the girls the full extent of their disease, but enough to prepare them for the next phase of total blindness and seizures. Despite this tragic news, we still hope to make this year amazing for us and them. It may be our last year to travel and make memories as a family before we are tied to hospitals and traveling becomes too cumbersome.
We do not know what we need right now. But we do know that the future will be very different than what we ever could have imagined. Right now, prayers are always helpful and welcomed. Prayers that we can fully enjoy our time with them, and strength to face each day with whatever it brings.
Here are a few sites to help you learn more and understand what lies ahead for our family.