For the past few years, the Fries’ have been trying to find the source of Cecilia (age 8) and Lilly's (age 6) vision loss. On January 3rd, they received results of Cecilia’s genetic testing. 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, and it is fatal. It is usually first diagnosed with vision loss. Shortly after, 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, they have been in a state of grief, shock, anger, and sadness. This news is life changing in so many ways. They 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 the Fries family. It may be their last year to travel and make memories as a family before they are tied to hospitals and traveling becomes too cumbersome.
With this diagnosis being so new to them, they are not certain what they will need, but they do know that their future will be very different than they could have ever imagined and that many things in their day-to-day life will need adjusting. In the near future, they hope to find a new home that can be modified to be wheelchair accessible.
Currently, there is very little research being conducted, but we have hope and we pray that there will be a trial that the girls could participate in, and ultimately, we pray for a cure.
Prayers are always helpful and welcomed. Prayers that they can fully enjoy time with each other, and strength to face each day with whatever it brings.
Your support, in whatever form, is deeply appreciated.
Here are a few sites to help you learn more and understand what lies ahead for the Fries family.
- Bernadette Magsino
- Sherry Howell
Organizer and beneficiary
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