A Tiny Warrior: Winnie Stanley’s Story

This guest post is written by April Leiffer Henry

If you ask 4-year-old Winnie Stanley what she wants to be when she grows up, she’ll say a superhero. But to many people in West Virginia, this sweet, adorable little fighter already is a superhero. Winnie is a preschooler whose favorites are Play-Doh, the color pink, and pancakes. But her favorite thing about herself? That she can go fast in her wheelchair.

Winnie has spinal muscular atrophy (SMA), a genetic disease affecting the part of the nervous system that controls muscle movement. Occurring in about one in 11,000 births, SMA is the number one genetic cause of death for infants. Just a few years ago, an SMA diagnosis left many families feeling hopeless because there were no treatments available. Now, with two FDA-approved treatments that stop the progression of the disease, people with SMA have hope.

Winnie and her family are no exception.

But they’re not stopping at Winnie’s future. The Stanley family is fighting for other children in their state, recently advocating for SMA to be added to the newborn screening panel.

Beginning this fall, every baby born in West Virginia will be tested for SMA — a critical first step in helping children get the early intervention needed to halt the disease’s progression. While Winnie’s family sees a bright future for their tiny warrior, they weren’t always so hopeful.

Noticing something was ‘off’

Winnie was born April 2015 — the second child of Logan and Ann Stanley of Morgantown, West Virginia. Their first child, a son named Charlie, is just 18 months older than Winnie. As far as Logan and Ann knew, their baby girl was perfectly healthy. The hospital birth and stay were uneventful, and the newborn screening came back with no findings.

But when Winnie was 4 months old, Ann noticed a tremor in Winnie’s hand. “It came and went,” Ann remembered. “It wasn’t constant.”

Through her own reading and research, she learned that a hand tremor could be nothing, which is what Logan thought. The pediatrician confirmed that such a tremor can be typical and would most likely disappear by 16 months old.

At 9 months old, Winnie could roll and sit perfectly, but she was not crawling or standing. “She was not even interested,” Ann recalled. “She and Charlie are so close in age, so I knew the milestones.”

Worried that Winnie had physical delays, Ann brought up her concerns at Winnie’s 9-month well visit. “The pediatrician did not seem concerned,” Ann shared. “But, as a mom, you know when something’s not right.”

That’s when Ann contacted West Virginia Birth to Three, a statewide system of services for children under age 3 who have, or are at risk for, a delay in their development.

“From there, things happened quickly,” Ann said. “We met with practitioners, and Winnie began physical therapy. The physical therapist noticed a disconnect after seeing Winnie just three times, and we got a neurology referral. Winnie was not even 12 months old. This was way more intense than what I was thinking. It was the first time I ever considered that anything serious was going on.”

Receiving a life-changing diagnosis

In July 2016, Ann took Winnie to see a neurologist in Pittsburgh, which is about a 90-minute drive from Morgantown. “I was in denial that anything was wrong,” Logan admitted. “I didn’t even take off of work to take Ann and Winnie to Pittsburgh. My father drove her.”

The neurology appointment was quick. After just 15 minutes with Winnie, the doctor had a probable diagnosis, which would need to be confirmed with bloodwork. “The doctor didn’t want to tell me what she thought it was, but I insisted,” Ann said. “She made me promise not to Google it. I agreed, but as soon as the doctor left the room, I Googled it on my phone.” The neurologist discouraged Googling because there are different types of SMA, and every patient is different.

When Ann called Logan and shared the doctor’s probable diagnosis, he Googled it, too. That’s when reality finally set in for him. “At that time, there were no treatments, and we didn’t know what type of SMA Winnie had,” he explained. “I thought our daughter was going to die a child.”

Ann said concerns quickly escalated from “Is Winnie ever going to walk?” to “Is she going to live?”

“After worrying and grieving over the worst-case scenario, we decided to focus on what we could control and to direct our attention to helping Winnie get the best treatment we could,” Logan noted.

Winnie’s official diagnosis came on November 30, 2016. She was 19 months old.

“I was devastated,” Ann recalled. “It was even more heartbreaking than I thought it would be. At that exact moment, there was nothing to do. No treatment, nothing approved by the FDA, and she was unable to participate in clinical trials.

For Logan, the formal diagnosis was not just a confirmation. It also revealed that Winnie has SMA type 2 and showed the number of survival motor neuron 2 (SMN2) copies she had. “It confirmed what we knew, that Winnie was strong and has a positive future in front of her, despite SMA,” Logan shared.

Starting treatment and finding hope

Upon learning Winnie’s diagnosis, the Stanleys began reading about Spinraza, which would become the first FDA-approved treatment for SMA .“It was helpful to see something that would stop the progression of SMA,” Ann said. “The physical therapist was actually glad SMA was the diagnosis. We knew the drug was really close to being approved. With so many other diagnoses, families have no hope.”

Winnie’s family had hope.

When the FDA approved Spinraza in December 2016, there were no restrictions on age or type. “It was for everyone,” Ann commented. “We were over-the-moon excited.” Winnie began receiving care in Columbus, Ohio, at Nationwide Children’s SMA clinic. She got her first dose of Spinraza in March 2017, just shy of 2 years old.

Spinraza, marketed by Biogen, was the first FDA-approved therapy to treat SMA. Spinraza is sometimes called nusinersen.

According to the Cure SMA website: Spinraza is an SMN-enhancing therapy that works by targeting the SMN2 gene, causing it to make more complete protein. Spinraza is an antisense oligonucleotide. Antisense drugs are small snippets of synthetic genetic material that bind to ribonucleic acid (RNA), so they can be used to fix splicing errors in genes such as SMN2.

Ann said she saw improvements in Winnie right away. “Before the medication, her head would flop over, and she couldn’t bring it back it up. She would get so fatigued by the evening. She had the hand tremor and lost the ability to roll,” Ann remembered. “The medicine gives her more energy. She’s getting stronger, the tremor stopped, and she’s rolling again.”

In addition to the medication, Winnie works hard. She does physical and occupational therapy, and she loves riding horses.“It’s good for her core, and I’m not sure she realizes it’s therapy,” Ann said about the horseback riding. “We work with her all the time at home. She has a stander and does stretching. Charlie was young when she was diagnosed, so this is just life as they know it — a lot of doctor’s appointments and therapy.”

Fighting for a cure and helping others with SMA

In addition to their determination to get the best treatment possible for Winnie, the Stanley family is committed to helping other children with SMA, starting right in their home state of West Virginia.

“We help plan and fundraise for the annual West Virginia Cure SMA Walk-n-Roll,” Ann said. “We have raised over $30,000 since Winnie was diagnosed.”Family members and friends wanted to help, too, giving way for the tagline, “Winnie’s Warriors.” Ann said it seemed like a fitting name for Winnie’s supporters, given that she is such a little warrior herself.

A natural optimist, Ann is looking forward to seeing how Winnie will impact people. “She knows she’s different, and she owns it,” Ann gushed. “She’s brilliant and loving. I can’t help but be happy for her.”

Logan agrees that Winnie has a lot of fight in her tiny body. “It has been surprisingly easy to keep Winnie — and her parents — motivated because she continues to progress and make strides each day,” he reflected. “I am so proud of her hard work and thankful for an effective treatment. I am constantly reminded of how lucky we are.”

About the Author: April Leiffer Henry is a friend of the Stanley family. She met Ann at the gym and learned about SMA because of Winnie. April enjoys seeing Winnie work hard and thrive.

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