Family on a mission: Child’s rare neuro-genetic disorder inspires a cause

Lillie plays with her mom Felicia Larimore in their living room. Delaware State News/Marc Clery

DOVER — Like most children her age, Lillie Rose Larimore loves “Ring Around the Rosie.” When she falls down at the end of the song, her belly laugh is infectious.

She goes through the motions of the popular “Wheels on the Bus” preschool song with ease, rubbing her eyes with her chubby little fists to mimic the babies crying on the bus.

At the end, she gives high fives to her mom Felicia Larimore and grandmother Debera Smith. And as most toddlers will do, she cuts her eyes at the adults present, another spurt of belly laughter erupting at the attention.

“She knows she’s cute,” Ms. Smith said.

While Lillie does many activities like her peers, she struggles with common milestones. She doesn’t sing the words to any of her preschool songs. Given the rare disease that she has, she may never communicate verbally.

Lillie high fives with her grandmother Debera Smith. Delaware State News/Marc Clery

Last year, she was diagnosed with Angelman Syndrome, a rare neuro-genetic disorder that occurs in one of 15,000 live births and causes developmental delays, lack of speech, seizures and walking and balance disorders.

As first-time parents, Colin and Felicia Larimore of Hartly were concerned when their baby girl didn’t walk and talk on a typical schedule. But even before she started missing those developmental marks, there were other issues. In her first few months, Lillie didn’t gain weight, struggled with digestive issues and would randomly scream. She trembled frequently, which they eventually learned was seizures, a typical symptom of Angelman.

Doctors suggested the causes were low muscle tone and not being around other children. Angelman syndrome is often misdiagnosed as cerebral palsy or autism due to lack of awareness.

But the family persisted, taking videos of Lillie to doctor’s visits to show what was happening at home and the skills she was capable of, which were inconsistent with a slow-development theory.

Then an area neurologist realized that the shaking was actually a form of seizures and referred the Larimores to Childrens Hospital of Philadelphia (CHOP) a few months before Lillie turned 2 for further tests, including sleep studies, a spinal tap and more. There, the family encountered a doctor who had focused on Angelman Syndrome during her schooling and recognized Lillie’s disorder.

“We were constantly looking for that answer, but it seemed like every doctor that we talked to, there was just still so many questions,” said Colin Larimore, Lillie’s father. “It was a long journey until we finally found out what it was. To just be able to put a name to it, to how we were going to be able to treat it, it was a huge relief. With a diagnosis, at least we could put a plan together.”

Lillie plays with her mom Felicia Larimore in their living room. Delaware State News/Marc Clery

While her daughter is not quite 3 years old — her birthday is in June — Ms. Larimore said the time to get a diagnosis took “what seemed like years.”

“I definitely like the fact that we have a written diagnosis,” Felicia said. “Now that we know that it is Angelman’s, we can definitely pinpoint what to expect and how to work with her with therapy.”

For instance, until they had a diagnosis, speech therapy focused on teaching Lillie certain mouth movements so she would learn to talk. Because a symptom of the syndrome is being nonverbal, therapy now can focus on other forms of communication.

“Now we know,” she said, the causes of Lillie’s seizures, why they get worse when she is sick, why she has persistent constipation and inconsistent sleep patterns and doesn’t handle heat well.

“It pretty much answers every question we’ve ever had, even when she was a baby and we had no idea,” Ms. Larimore said.

Some nights Lillie may sleep eight hours straight and other times it’s two-hour stretches. There is no state of drowsiness in Lillie’s world.

“She’s always wide awake,” Ms. Larimore said, even when she wakes in the morning and gets up from a nap. “She’ll sit up and just start laughing like she never even slept.”

That’s a common trait of the syndrome.

Ms. Smith said, “CHOP was wonderful at really pushing for a diagnosis on this.”

At one point the family was visiting the emergency room at the Philadelphia hospital every two months as Lillie’s seizures worsened.

With two medications, the brief seconds-long trembling sessions have diminished from over 50 some days to about five.

Lillie her mom Felicia Larimore and grandmother Debera Smith. Delaware State News/Marc Clery

“It was hard and I know it was hard on them,” Ms. Smith said, as friends and relatives inquired about Lillie’s progress and compared notes on how their own children were growing. “To have this actual diagnosis was really kind of comforting for that fact.”

“Lillie is perfect. She was created this way for a reason.”

Mr. Larimore said, “It really feels helpless and, even now that we’ve got her on the right medication, you want her to be able to talk and hit these milestones that 2-, almost-3-year-olds hit. You just got to take a different route to get there. It’s really painful to watch, but we’re also super proud when she does make progress.”

While the family had been pursuing sign language as a means to promote communication, they’ve refocused efforts since getting Lillie’s diagnosis.

Mr. Larimore, who works at Tidewater Utilities, said they’re still doing sign language, which Lillie has adapted with some of her own hand motions that her family understands, but they’re also using a communication board recommended by therapists.

“It’s like she has her own little language,” he said. “We’re trying to make her familiar with the communication board right now and later on down the road that will be an easier way for her to communicate.”

Lillie loves to play with water in the bathroom sink with her mom Felicia Larimore. Delaware State News/Marc Clery

She has therapy three times a week; one visit each for physical, occupational and speech help, plus an early childhood educator who visits weekly.

Lillie looks forward to the 90-minutes sessions, Ms. Smith said. “She thinks, ‘These are my friends. It’s play time.’ She just thinks this is the life.”

Lillie works on gross motor skills, like walking across stacks of foam squares of varying heights to improve her balance.

Ms. Smith had cared for her granddaughter while Ms. Larimore worked full time, but after the diagnosis and intense amount of information that followed, Lillie’s mother gave up her job so she could get information from therapists firsthand.

In addition to Ms. Smith, the couple has Mr. Larimore’s parents nearby and close friends.

Because Lillie will age out of the early childhood intervention program when she turns 3, the Larimores have started researching options for educational programs through the Capital and Caesar Rodney school districts. Having a diagnosis of Angelman Syndrome makes that transition easier to figure out what programs would best serve her needs.

“She loves being around kids. She loves the interaction and I personally think she does a lot better focus-wise. She’ll sit down and eat if other kids are sitting down and eating,” Ms. Larimore said.

A common trait among kids with Angelman is an infatuation with water.

In close proximity to her daughter, Ms. Larimore spells the word baths, then explains that her daughter loves that time. “We can’t even say it or she goes crazy.”

Mr. Larimore agreed. “She would light right up as soon as you say it and take off.”

“It’s gotten to the point now that she runs from one side of the house to the other, from the kitchen to the bathroom sink. She could play in water all day long,” he said.

Lillie also loves music.

Ms. Sharp’s boyfriend is a musician and they noticed that when he played the guitar, Lillie would respond.

“It’s like therapy. She settles right down,” she said.

On a mission

With a diagnosis at hand, and because of the frustrating experience it took to get it, the family was inspired to bring awareness to others.

Given the demands of work and parenthood for the young couple, Ms. Sharp has taken on the role of cheerleader for that cause. She was excited to learn about the nationwide Angelman Syndrome Foundation, but disappointed that Delaware didn’t have an annual awareness walk or support group available.

IF YOU GO
Angelman Syndrome Walk Dover
May 19; registration starts at 9 a.m., walk begins at 10 a.m.
Delaware Technical Community College Terry Campus
For information and to register, visit www.angelman.org/walk. For sponsorships or donations, contact Debera Smith at (302) 632-4126 or email djsmith3160@gmail.com.

With a background in marketing and sales, she contacted foundation leaders and got approval to host Delaware’s first walk on Saturday, May 19, in Dover to raise funds to help find a cure, “but to also hopefully save another family from the experiences that my children and grandbaby have been through.”

Quickly, Ms. Smith started hearing from people with similar stories. “It seems like we all have this same horror story.”

Her advice to parents: “Trust your instinct. Be persistent. I’m very proud of my kids for not giving up and putting their foot down.”

“We went through such a horrific journey leading up to her diagnosis. There are just some things that parents may not know about the warning signs that may help them a little bit,” she said.

Ms. Larimore said, “I think it’s important for people to really know what

Angelman Syndrome is. I didn’t even know it was as big as it is. I didn’t know what it was.

Her husband added, “You never know if they might find a cure for it someday. Raising money and raising awareness could help get to that point.”

With about nine weeks to go until the Dover walk, Ms. Smith is pleased with the beginning efforts, but wants to spread the word so people register to walk, become sponsors and support the event.

Raffles for the day so far include tickets to the minor league basebball Blue Rocks in Wilmington, NASCAR and gift cards for area businesses. Riedel K9 and Marlin Business Service are two sponsors to date.

She is encouraged by the response. At her request, on Feb. 15, Woodburn, the Governor’s Mansion in downtown Dover, was illuminated in blue light in recognition of national Angelman Syndrome Awareness Day. It was a first step in raising greater awareness for the disorder.

“Lillie inspired me to do this. That little girl is my everything,” Ms. Smith said.

Ashley Dawson is managing editor of the Delaware State News. Email adawson@newszap.com.

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