'Rare Sisters' Both Inherited Fatal Disease: 'Worst Day Of Our Lives'
ARVADA, Colo. (CBS4) - A mother and father in Arvada are asking the community to come together to fight a horrible disease. Two of their five little girls are dying of a rare genetic disorder, a form of Batten disease.
There is no treatment, there is no cure. The clock is ticking for the sisters as their symptoms get progressively worse.
"Diagnosis day was the worst day of our lives," an emotional Jon Fries told CBS4 Health Specialist Kathy Walsh.
On Jan. 3, 2018, Jon and his wife, Beth, learned that the two oldest of their five young daughters had CLN3 Batten disease. The disease is caused when both copies (one from each parent) of the CLN3 gene are defective.
Nine-year-old Cecilia and 7-year-old Lily had been losing their sight. Their parents learned that going blind was just the beginning.
"Typed in CLN3 on my phone and collapsed to the floor because it said neurodegenerative, fatal late teens early 20s, no treatment, no cure," Beth Fries explained.
Cecilia and Lilly are rare sisters. The incidence of their inherited disorder is about one in 100,000.
The girls have seizures, learning difficulties, and behavioral issues. The sisters are stuck at age 5.
Today, they appear as spirited as their three little sisters, Nora (5), Ruthie (4) and Zelie (18 months), but over the next decade or so, they will no longer be able to walk or talk. They will need a feeding tube and eventually die.
"They don't know the future of their disease. Just this morning Celia said to me, 'Mom, when am I going to be a woman?' and in my brain I'm going ... never," said Beth.
Beth and Jon are now advocates for Batten disease awareness and fundraisers for research.
Their Catholic faith fuels them.
"For coping, for dealing, for grieving," said Beth.
They've organized a 5k run they call "Expect Miracles Rare Sisters 5k."
"We want ideally a cure, but a treatment to begin with would be nice," said Jon.
The Fries family lives in the present, knowing the horrible disease will very likely steal Cecilia and Lilly's future.
"It's not a path we would have ever chosen, but we don't get to make that decision and so we find the joy, we find the beauty in the thorns," said Beth.
The "Expect Miracles Rare Sisters 5k" is Sunday, April 28 at Lake Arbor in Arvada. You are encouraged to sign up by April 15.
