Lexi’s legacy: Why a Greater Victoria family hasn’t given up hope to cure a rare disease

At nine months old, Lexi Townsin wasn’t trying to crawl; in fact, she seemed afraid to put any weight on her wrists. It was the first clue for her mom, Cheryl-Lynn, that something was wrong.

The memories of Lexi’s first birthday weren’t of balloons and cake for Cheryl-Lynn and her husband, Troy. It was the day the family found out Lexi was suffering from juvenile arthritis.  Although doctors explained that there wasn’t a specific cause for the disease, Cheryl-Lynn was still unsatisfied. She began researching diseases of all kinds.

The following years up until the age of three would see a flurry of unexplainable symptoms plague Lexi, including scaly rashes, enlarged glands under her chin, daily fevers, and severe bloating and stomach pain.

“There was a moment when she pointed back and forth at different parts of her body and mine and asked me, ‘Does this owie?’” Cheryl-Lynn recalls.

“It’s a feeling of despair, knowing there’s nothing you can do to take that pain away from your own kid. That’s when you come into that feeling that you need to find someone who can take that pain away.”

Just before her third birthday, Lexi was diagnosed with Blau syndrome.

According to a 2019 study, there have only been 200 known patients with Blau worldwide.

A rare kid

From first glance, you wouldn’t have known that Lexi wasn’t healthy. But once you got to know her, you’d find out that the Colwood girl was living with Blau, an autoimmune disease which affects the joints, eyes, and skin. In most cases, it will cause arthritis, potential blindness, and a distinct skin rash that usually manifests around a year old. From limited case studies, there aren’t any optimal treatments for the disease — only ways to manage the symptoms.

For Lexi, that meant she was fully reliant on prednisone, a strong steroid she took to function in everyday life.

The drug would help reduce the inflammation in her fingers, toes, and knees. Without it, Lexi would suffer excruciating pain and find it hard to move. But the steroids would severely lower her immune system to the point that even an average cold or flu would keep her stuck in bed for days on end. After countless visits to the hospital, blood tests, and introductions to specialized doctors, the first day of kindergarten at Ecole John Stubbs in Colwood was a daunting day. Not only was the five-year-old meeting a host of new faces, she’d have to face it alone with an immuno-compromised body.

“She clung to my arm like a little koala,” said Cheryl-Lynn, recalling the first-day drop off. “My friends used to say that we were attached at the hip so much that Lexi was my barnacle. She wouldn’t let me go.”

In the end, Cheryl-Lynn was unable to pry her daughter off of her arm. She ended up spending the entire first day with the five-year-old to meet her teachers at Ecole John Stubbs Memorial School in Colwood.

Not only was it a big milestone for Lexi, but it also was one for her too—Cheryl-Lynn was just about to start a Masters program at Royal Roads University in the coming weeks.

The months that followed Lexi’s first day went off without a hitch. She would come home with a grin on her face and tell the entire family about the new friends she had made all on her own. With each story shared, Cheryl-Lynn noticed one similar thread: a scary world, but a brave girl.

Cheryl-Lynn, Felix, Lexi, and Troy Townsin photographed in March 2019, seven months before Lexi suddenly passed away. Photo: Cheryl-Lynn Townsin / Submitted

Looking for a cure

The Townsins launched the Cure Blau Syndrome Foundation in 2018 with Troy as the executive director. The foundation’s goal is to bring together leading health professionals to form an advisory board, raise funds for research, and build a global database of Blau patients.

Since its launch, Cheryl-Lynn has been connected with families around the world, including a family with a young boy living with Blau in Denver, Colorado and another young girl in California. The family began posting regular updates on a new Facebook page, Me, My Dad, and Blau, which was used to share their journey with Blau syndrome.

In August 2019, the entire family took a drive to the National Institutes of Health in Washington, DC to speak with leading doctors about autoimmune diseases and connect with PhD students, physicians, and scientists to fund research and help form an advisory board for their foundation. Cheryl-Lynn recalls everything feeling optimistic at the time.

Two months later, Lexi took a turn for the worse.

It was just like any regular doctor’s appointment for Lexi as she was tucked into bed extra early on October 16, 2019. She was nervous because the next day she would have to go under anesthesia to get steroid injections in her knees to help keep her arthritis manageable.

The Townsins shared a video that night on Me, My Dad, and Blau, with Lexi explaining how she was going to fast for the next day and had to wake up at 3 am to eat breakfast. Cheryl-Lynn was going to make pancakes as a treat for Lexi to look forward to the appointment.

The following morning, Lexi woke up around 2 am, vomiting. This wasn’t the first time she had woken up feeling unwell, but Cheryl-Lynn ended up cancelling the procedure. With Lexi’s suppressed immune system, even a simple cold was normally expected to keep her in bed for days on end. But the six-year-old’s symptoms got progressively worse, to the point that they brought her into the emergency room later that day.

Lexi and the family were airlifted to Vancouver, and her symptoms seemed to be improving, slowly. But just as they were set to undergo a CAT scan before her steroid treatment, there was a war going on inside her body.

Cheryl-Lynn says the drugs that could’ve saved Lexi’s life were available, but they weren’t administered by doctors because she had been diagnosed with sepsis at the time.

Lexi was actually experiencing a cytokine storm, in which the body starts to attack its own cells and tissues instead of fighting off the virus.

The six-year-old passed away on October 19, 2019.

Life after Lexi

“It was a very difficult time to figure out any meaning in life,” says Cheryl-Lynn.

“You’re in survival mode. I think I still am in survival mode. There’s moments in each day that I don’t know how we’re going to survive it. But one of the big pieces that keep us [as a family] going is purpose. It’s looking for ways to continue your relationship with your child in a way that lets her legacy live on.”

Cheryl-Lynn says the only thing that got her out of bed in the morning was her work on Rare Humans, an hour-long documentary she produced as a final project in her graduate program. It tells the stories of eight families raising kids with rare diseases across North America and features Lexi.

In mid-June, Cheryl-Lynn completed her masters of arts in global leadership and gave the graduate address for the class of 2021 at Royal Roads.

“It is easy for our pain to make us angry, bitter, and resentful,” Cheryl-Lynn told her colleagues in a video. “It is important to acknowledge these feelings, but not to let them control us. Every day, I wake up reliving my worst nightmare, but everyday I choose to turn my pain into purpose.”

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Cheryl-Lynn says the support she received from family, friends, and the school community has kept Lexi’s legacy alive in the Westshore.

Two months after she died, on what would have been her seventh birthday, staff at Ecole John Stubbs Memorial held a bake sale in her honour. They ended up raising $1100 to donate towards the Cure Blau Syndrome Foundation. The following year, another $750 was raised from selling hats and scarves that a staff member made themselves.

“Lexi was always eager to join in on crafts, baking, learning—you name it,” says Charlotte Friend, an inclusion support teacher at John Stubbs. “Lexi had a tiny body, but a huge personality. She also had quite the laugh. We were devastated as a school when we found out she died. She made ripples. You could feel her presence long after she’s gone.”

Friend is planning to uphold the tradition as long as she’s working at the school. She has another bake sale and clothing sale in the works for this December.

Colwood's Ecole John Stubbs school staff Charlotte Friend (right) and Corrina Burns raised $1100 from their bake sale in honour of Lexi. They donated all the funds towards the Cure Blau Syndrome Foundation. Photo: Charlotte Friend / Submitted

A unified force

Last August, the foundation held its first-ever Blau syndrome research symposium, bringing together health care professionals from around the world to share the most recent information about the disease.

In attendance was Ruth Napier, a professor in molecular microbiology and immunology from the Oregon Health & Science University, who is currently conducting critical research on Blau syndrome’s specific gene sequencing. She pointed out that her work can help find a proper treatment for Blau, as well as for a host of other autoimmune diseases, including Crohn’s disease.

In a video posted to Me, My Dad, and Blau, Napier says that NOD2, the gene which has a single-point mutation that causes Blau, is a critical regulator of our immune systems.

“What happened to Lexi can happen to any of our kids,” says Erica Howell, a board member at the foundation who is raising a 12-year-old girl living with Blau in California.

“I think it would be very helpful for physicians to understand her [Lexi’s] case so they know the risk factors for other kids just like her. Cheryl-Lynn and Troy were willing to share their lives and that’s not an easy thing. I understand why people wouldn’t want to go through that, but this work is necessary.”

Erica’s daughter, Keira, was misdiagnosed at 20 months old, then properly diagnosed at four years old. Currently, the Howell family and the Townsins are working to fill an international registry of people with Blau syndrome.

They’ve partnered with Coriell Institute for Medical Research, a world renowned biobank that collects and stores cells from patients. From there, samples will be available to researchers around the world to conduct necessary research to either find a drug that can specifically deal with Blau or use gene therapy, an experimental technique that could allow doctors to treat a disease by inserting a gene into a patient’s cells instead of drugs or surgery. The therapy is used to fix defective genes to help your body fight the disease better or cure it altogether. There are potential risks involved, including a bad immune system reaction, damaging healthy cells, and possibly causing a tumour. Clinical trials have had some success in treating leukemia.

Looking ahead, Cheryl-Lynn believes that nothing will get accomplished to solve Blau if the community of rare diseases doesn’t band together and advocate for increased research, funding, and awareness together. She points to cancer research, which has continued to excel because, even though there are more than 100 types of cancer, most people experiencing it have a unified voice under one movement.

“Lexi was the spark that started this entire thing,” says Cheryl-Lynn. “She’s changing the world without even physically being here. She’s truly the leader that I dreamed I would be in my lifetime. I know she’s proud of me.”