Mom of girl with genetic disorder starts group to aid families affected by rare diseases

CLINTON — Some people live long lives, but don't leave much behind to remember them.

With 2-year-old Mabel Larson, it stands to be the other way around.

The youngest child of Ramee and Daniel Larson of Clinton, Mabel has a heart-grabbing smile and a heart-breaking genetic disorder.

The Larsons have been on a quest to find answers for the medical issues plaguing Mabel since her birth, and they recently got a diagnosis two days after Mabel's second birthday, Ramee Larson says.

A doctor told them their daughter has a rare, fatal genetic disorder of the nervous system called Batten disease that ends kids' lives early.

On a late July morning at their family home, Larson holds Mabel close and talks about what a precious gift her little daughter is, and the certainty she and her husband share that Mabel's life has a purpose.

"We both really trust that God has perfect timing and a perfect plan," she says.

Ramee and Daniel Larson grew up in Clinton and were high school sweethearts who married at 19, Ramee Larson says.

After Daniel's years in the Marines, they made their home in Clinton to raise their children near their families.

The couple's first two children, 6-year-old Nora and 4-year-old Braden, hit their developmental milestones early, but it was clear soon after Mabel's birth that something was wrong, Larson says.

She didn't pass infant hearing screenings. She wasn't making eye contact with her parents, and she continued to want to be swaddled tightly like an infant as she grew older, Larson says.

Other developmental delays Larson describes: Mabel wasn't gaining weight on pace with infants her age and she was unable to sit up on her own. She began having seizures and, her parents also suspected, she was having vision problems.

Doctors diagnosed Mabel with epilepsy and a retinal disease before all her symptoms were pieced together and a lab confirmed the genetic disorder she has, Larson says.

Mabel now functions at the level of about 3 months old, Larson says.

Her little daughter weighs 17 pounds, and is nourished through a feeding tube. She forms sounds and giggles at things, like her dad playing the guitar, but doesn't speak any words.

Rolling on a living room rug near her mom, she smiles and makes happy sounds, but some days, Larson says, Mabel cries hour after hour.

The long name for Mabel's condition is neuronal ceroid-lipofuscinoses or NCL.

There are four major types of NCL, with Batten disease once referring to just one form. But doctors increasingly use Batten disease to describe all NCL forms, according to the National Institute of Neurological Disorders and Stroke at the National Institutes of Health.

NCL affects two to four out of every 100,000 births in the U.S., and a child only has a chance of inheriting it by getting two copies of the defective gene, one from each parent, according to the NIH.

Dr. Michael Schneider, a genetics specialist at Carle, says Mabel has an infant onset form that is severe.

Schneider says Mabel's sister and brother have a two-in-three chance of being carriers, and he'll recommend genetic testing when they're older. But he also says there is a very low carrier rate of the defective gene in the general population, so the chances of either of them winding up having a child one day with someone else who might be a carrier would be small.

"You're talking about a fairly low risk," he says.

Since there's no cure for the disease, he says, he can't make a difference in Mabel's long-term survival, but there are things he and her parents can do to offer her comfort as her symptoms progress.

In the midst of their search for answers about Mabel's medical condition, Larson launched an organization called Mabel's Able, intended to raise awareness and help other parents with children who have rare and undiagnosed diseases.

Through the organization and its website at http://www.rameelinlarson.com, Larson has chronicled her family's life with Mabel and has a fundraising event coming up Aug. 25 in Clinton.

Larson advises parents struggling with undiagnosed conditions for their children to be persistent and trust that they know their children best.

"A mother knows her child. If you haven't gotten the answer you need, keep asking and do all you can," she advises.

Larson says Mabel has already taught her so much about being a mom.

With Mabel, she's learned to accept help and carry long hard days, she says.

She's had to grieve this child she thought would be normal, but still, she says, she finds so much joy in Mabel's pure, innocent smile and the warmth of her daughter on her lap.

"I've learned to really find joy in the midst of true heartache," Larson says.

Mabel's Able fundraiser

What: 5K race/walk with silent auction to benefit research, testing and help for families affected by rare and undiagnosed diseases.

When: 9:30 a.m. Aug. 25, with registration starting at 8 a.m.

Race fee: $10.

Where: Clinton YMCA, 417 S. Alexander St., Clinton.

For information, send an email to founder Ramee Larson: mablesablerare@live.com.

More about this organization and Mabel's story on the Web: http://www.rameelinlarson.com.

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areader wrote on August 19, 2012 at 12:08 pm

Ramee, Daniel, Mabel, Braden and Nora - My family and I are praying for all of you.  God bless.