Felix Townsin, left, shown here with his sister, Lexi, who died on Oct. 19, 2019. Felix is a big part of a family initiative aimed at finding a cure for Blau Syndrome, which claimed Lexi. (Photo contributed by the Townsin family)

Felix Townsin, left, shown here with his sister, Lexi, who died on Oct. 19, 2019. Felix is a big part of a family initiative aimed at finding a cure for Blau Syndrome, which claimed Lexi. (Photo contributed by the Townsin family)

Quest to cure Blau syndrome a family affair

John Stubbs student produces film for late little sister Lexi

A brother’s quest to make his sister’s birthday wish come true knows no bounds.

Felix Townsin produced “Me, my sister and Blau,” one of 10 films selected for screening as part of Disorder, an annual Rare Disease Film Festival in New York. After the festival was postponed due to the COVID-19 pandemic, “Me my sister and Blau” was presented at the annual Global Genes Society convention.

The documentary chronicles his sister, Lexi and her struggle with Blau syndrome as well as the family’s efforts to raise awareness about and find a cure for the disease. Blau syndrome is an extremely rare progressive inflammatory disorder that affects the skin, joints, and eyes. Some of the typical symptoms include small, hard lumps that form on the skin, joints and organs.

Lexi was first diagnosed with Blau syndrome around the time she turned three. She played an active role in raising awareness about her condition, through a series of video she made with her father, Troy, that illustrated her strength and fun-loving nature. Lexi made finding a cure her birthday wish, but lost her courageous battle with Blau syndrome a couple of months before her seventh birthday in October of 2019.

Cheryl-Lynn Townsin, shown here with her husband, Troy, son, Felix and daughter, Lexi, who died on Oct. 19, 2019. The family is devoted to organizing efforts to find a cure for Blau Syndrome. (Photo contributed by the Townsin family)

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“How many six-year-olds wish for something like that,” asked Cheryl-Lynn Townsin, their mom. “It’s a great honour to carry on her wish. We all learned from her how much can be accomplished in such a short time. The impact we make is part of her legacy.”

Felix’s dedication to making Lexi’s wish a reality shines through in a variety of efforts aimed at increasing awareness and research to find a cure.

“Me my sister and Blau,” which he created with his mother, was released on Lexi’s birthday, Dec. 16, 2019.

“We put the movie together because we wanted to do something special for her birthday,” said Felix, a 10-year-old Grade 5 student at Ecole John Stubbs.

“We were hoping for a good response,” Felix said. “It got a lot of shares. More than 50,000 people have watched it.”

Those numbers were impacted by the reaction the film drew after its inclusion at the Global Genes convention, which was held virtually this year because of the pandemic. The annual convention – one of the world’s largest gatherings on rare diseases – brought together more than 900 patients, caregivers, advocates, health care professionals, researchers, partners and allies. Felix introduced “Me my sister and Blau” before it aired on Sept. 17, and then answered questions after it was shown.

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“It was the first time I made a presentation like that,” he said. “I was a little nervous before, but more relaxed once I started. Finding a cure is what’s most important to me. Finding another 1,000 Blau patients for research would be a good place to start.”

Having so many people involved in health care take part in the presentation was key because research has been limited by the fact that not many people, including doctors, have heard about Blau, Cheryl-Lynn noted. As recently as the summer of 2019, only about 200 cases have been identified worldwide.

The presentation caught the attention of Dr. Ruth Napier, the principal investigator at a translational immunology laboratory at Oregon Health & Science University.

“Blau syndrome has been a passion of hers,” Cheryl-Lynn said. Before she connected with the Townsins, Napier had been limited to working with only two patient samples. “She now has access to over 100 patients,” Cheryl-Ann noted. “Dr. Napier said a colleague nearly fell out of his chair after the presentation. It’s really exciting.”

Those are the kind of results Cheryl-Lynn and her husband, Troy, were looking for when they launched the Cure Blau Syndrome Foundation in 2018. “Lexi’s the real founder,” Troy added.

Lexi and Felix have been nominated by the Global Genes Society for a RARE Champions of Hope Award. The annual awards are presented to individuals and organizations that inspire collaborative efforts and ground-breaking change in rare disease research through the significant impact they make in advocacy, industry, medical care, treatment, science and technology.

The family of Lexi Townsin is devoted to organizing efforts to finding a cure for Blau Syndrome, which claimed Lexi’s life on Oct. 19, 2019. (Photo contributed by the Townsin family)

The Townsins are organizing Rare Auction for a Rare Disease, an online auction planned for November, to help with the fundraising component of the equation.

“We need to connect funding with the researchers and patients,” Cheryl-Lynn said. “That’s the road map to a cure.”

Felix has his own fundraising initiative on the go. “Don’t Floss Between Your Toes,” a book he wrote with a little help from his father, the author of several children’s books, is an insightful and often hilarious look at life through the eyes of a five-year-old. The book concludes with “My sister Lexi has Blau syndrome. She is the strongest baby. She acts like she doesn’t have it and she doesn’t cry, even though it hurts so much. She has to get thousands of needles. She likes it when I go with her to the hospital. I hope one of you will help my sister get what she needs and find a cure for Blau syndrome.”

Proceeds from the book have raised $5,000 so far.

Although his determination to find a cure has helped him stay positive through the first year without his little sister, Felix admits it has been challenging.

“The support from family, friends and school has been great,” he noted. “But you always feel like something’s missing.”

Visit curebs.com for more information on Blau syndrome, the Rare Auction for a Rare Disease, and how to help find a cure or make a donation.

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Rare Disease Facts

Blau syndrome is named after Dr. Edward Blau, a pediatrician in Marshfield, Wisconsin. In 1985, Blau reported a family that had granulomatous inflammation of the skin, eyes and joints. It is believed to be caused by a gene mutation, with symptoms usually beginning at four years of age.

According to the Global Genes Society, there are 7,000 distinct types of rare and genetic diseases. About 400 million people suffer from a rare disease globally, a total that easily surpasses the population of the United States. One of every two patients diagnosed with a rare disease is a child. Three out of every 10 children with rare diseases won’t live to see their fifth birthday. For more information, visit globalgenes.org.

A Mother’s Thanksgiving memories

By Cheryl-Lynn Townsin,Oct. 16, 2020

This is a hard weekend for us. Thanksgiving was one of Lexi’s favourite holidays. For a few reasons. She loved a good feast, she loved being with her family and friends, and she was full of gratitude – for everyone and everything. I think that was one of the reasons she was such a joyful kid – she was bursting with gratitude. Last Thanksgiving was our very last weekend with Lexi.

She spent the weekend doing what she loved most – cooking and baking with her Grandma Bear and devouring an amazing feast with her family. She did leave a piece of pie … it is still in Grandma’s freezer and I think it will stay there forever. It is impossible to comprehend that this would be her last celebration with us. I can say that Lexi’s loss has not gotten any easier, in fact it may be getting harder. These days remind us of her life and how much we miss her beautiful, joyful presence. The nostalgia is breathtaking.

I think the one thing that gets us through the pain is our gratitude. We will always be thankful for all of you who support us and keep Lexi’s legacy alive. Every morning we wake up wondering how we will make it through another day. And then we remember our purpose and all the people around us who are determined to help us carry it out. We will get through this weekend as we do every day, turning our pain into purpose to make this world the place Lexi would want it to be.

One with a lot less suffering and a lot more love, compassion and gratitude.

rick.stiebel@goldstreamgazette.com

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