With giant leaps in research and generous donations to BC Children’s Hospital Foundation, children and families facing rare disease are receiving long sought-after answers
Words Lisa Manfield, Photography Lia Crowe + Sheila Say,
Styling Sarah d’Arcey, Makeup Heather Nightingale
For families of children with rare illnesses, the most invaluable moment in their journey often comes when they receive a diagnosis after months, if not years, of medical investigation. And yet, for many of these young patients at BC Children’s Hospital, that moment of clarity remains elusive. With more than 7,000 rare diseases in existence, and new ones being discovered each year, it can be challenging for medical research to keep up.
But according to Dr. Stuart Turvey, a pediatric immunologist at BC Children’s Hospital and the Canada Research Chair in Pediatric Precision Health, the odds of getting a diagnosis are improving thanks to mighty technological advances and research efforts paired with clinical treatment.
“Estimates say that one in 25 kids in British Columbia are affected by a rare disease,” he says. “And, in fact, one in every three children admitted to BC Children’s Hospital has one of these inherited genetic diseases. We call them ‘rare’ but they’re actually very common.”
Children’s hospitals around the world face challenges in caring for kids with undiagnosed rare diseases, Dr. Turvey says. But despite the challenges, there’s a lot of hope.
“In pediatrics, we focus on hope and optimism. Our teams have the expertise to truly change the lives of families.”
That’s why Dr. Turvey’s research focuses on discovering and leveraging new, innovative techniques to get answers for kids across BC and the Yukon. Every development could make a crucial difference in a patient’s medical journey.
“In our research, the big focus is on children who aren’t getting an answer through what’s available clinically,” he says. “BC Children’s Hospital offers the best technology in the world, but sometimes we still can’t get the answers we need. What we’re doing in research is pushing beyond those boundaries.”
Getting to that diagnosis is critical, Dr. Turvey says, because it’s the centre point for understanding, treatment and prevention in pediatric medicine.
“Medicine is formulated on having a diagnosis. When we can get information about potential treatments and understand what problems these patients will face in the future, we can do things to avoid them. We are known for our ability to make life-changing diagnoses.”
Leveraging the power of precision health
A typical diagnostic process for a child with a “rare” disease often includes dozens of painful and invasive tests, and endless specialist appointments, which often result in treatments for the disease’s symptoms—like a rash or an infection—but not its root cause. And too often, families are left frustrated without answers or an understanding of why their child remains sick. This often-lengthy journey is what Dr. Turvey and his team refer to as the “diagnostic odyssey”—a quest to find vital answers for kids and their families.
With precision medicine, researchers are better able to pinpoint the genetic issues behind many of these diseases. And these great findings start small, at the cellular level.
“We can start to understand the molecules and the cellular changes that cause a child’s disease,” Dr. Turvey says. “We can look into their DNA and proteins. It used to be that we had to go gene by gene. And because there are so many genes, much of the time we didn’t find the answer. But now we can quickly sequence the whole genome, sift through it to find answers, and then we can move them into clinical programs. It’s rare that a children’s hospital can combine a research institute with world-class clinical care, but we are able to do that every day at BC Children’s.”
By collaborating with researchers and clinicians at children’s hospitals around the world, Dr. Turvey and his team are also able to extend their knowledge and discoveries, and ultimately help more patients.
“This is a huge team effort, and there are global reverberations thanks to our findings,” he says. “For example, a few weeks ago we published our research about a child who had come to BC Children’s Hospital with terrible allergies. Their skin was itchy, and they had food allergies that prevented them from eating much. They grew very poorly and had struggled for a long time with tube feeding. We were able to find the genetic cause, and then, by reaching out to our global networks, we quickly found 16 other patients around the world who all had the same thing. Working together with our global network, we found a treatment that could control this so that the patient could eat and grow. It’s a great example of how excellent clinical care combined with world-class research changes the course of treatment for children here and globally.”
Making dreams come true at home
Thanks to support of BC Children’s Hospital Foundation through this year’s Dream Lottery, participants can support ground-breaking research initiatives for kids at BC Children’s and beyond.
While making a mighty impact on the future of pediatric health care, those entering this year’s Dream Lottery also have the opportunity to win some breathtaking prizes. This includes the chance at a luxurious 2,946-square-foot, three-bedroom, three-bathroom home located in Crown Isle Resort and Golf Community’s Greystone Estates in Courtenay, BC.
“This large home is pure elegance, and backs right onto the eighth tee box of the Crown Isle golf course,” says Jason Andrew, director of real estate at Crown Isle. “It’s truly the stuff of dreams.”
Designed for comfort and understated luxury, this home is also an entertainer’s paradise—including the kitchen’s oversized island, quartz countertops, 36-inch stainless steel gas range with custom-crafted hood fan, and hidden walk-in butler’s pantry complete with sink, a second dishwasher and beverage fridge, and the dining room’s oversized candle pendant light.
Out back, a covered patio with a 10-foot ceiling features a big gas barbeque and fireplace, making outdoor entertaining possible all year long. And inside, the family room doubles as another entertainment area with vaulted ceilings, a bar area, a large, covered patio and impressive views of the golf course.
“In my 16 years with the BC Children’s Hospital Foundation Lottery, we have never offered this many incredible prizes,” says spokesperson Erin Cebula. “We have 10 packages to choose from, and they’re all pretty dreamy. This hasn’t been the easiest year for many British Columbians, but being able to dream about a new home, travel or oodles of cash while supporting a worthwhile cause really lifts the spirits. I’m particularly excited about this island lifestyle offering—there’s just something magical about Vancouver Island.”
Get your Dream Lottery tickets at bcchildren.com.
然而，對於卑詩兒童醫院内許多病童們而言，這一刻似乎仍然遙不可及。世界上已知的罕見疾病超過 7000 種，新的罕見疾病又陸續被發現，醫學的發展難以趕得上飛速的脚步。
卑詩兒童醫院兒科免疫學家、加拿大兒科精準健康研究主席 Stuart Turvey 博士認爲，由於科技的進步，加上研究與臨床治療的相結合，確診的曙光已經顯現。
“卑詩省大約每 25 個孩子中就有一個患有罕見疾病，”他說。“目前我們醫院收治的每 3 名兒童中就有 1 名患有遺傳性疾病。雖然稱之為’罕見疾病’，但其實已相當普遍。”
正因如此，Turvey 博士專注於研發創新技術，為卑詩省和育空地區的孩子們尋找答案。 每一點進步都可能爲病人的求醫之路帶來突破。他說：“我們著眼於目前無法確診的患兒，儘管我們醫院擁有頂尖的設備，但有時仍難窺端倪。我們要做的正是要走出這一藩籬。”
對於罕見疾病的患兒來說，往往經過無數痛苦的介入性檢查和無休止的求醫，結果往往是治標不治本。很多時候，家人都因爲得不到答案而感到沮喪和困惑。Turvey博士和他的團隊將這段漫長的旅程稱為 “diagnostic odyssey”，一段為孩子和家人尋找重要答案的旅程。
“我們可以開始瞭解導致兒童疾病的分子和細胞變化，”Turvey 博士說。“我們可以研究他們的 DNA 和蛋白質。過去，我們必須對基因逐個地進行測試。由於基因太多，答案難尋。但現在，我們可以快速測試整個基因組，找到問題所在，然後應用到臨床。我們將研究與世界一流的臨床緊密結合，這在兒科醫院實屬難得，但我們每天都能做到。”
他說：“這是一個全球團隊的工作，造福全世界的孩子。” 他舉例說。例如，幾週前，一名嚴重過敏的兒童來到兒童醫院。他皮膚瘙癢，對食物過敏，無法進食，生長發育很差，長期靠管式喂養。我們找到了遺傳原因，然後通過全球網絡，很快在世界各地找到了其他 16 名類似病例。通過與全球網絡合作，我們找到了治療方法，患者可以進食和生長。這是一個很好的例子，說明“優秀的臨床護理與世界一流的研究相結合，改變了全球兒童的治療進程。”
其中最受矚目的大獎是位於溫哥華島 Courtenay 市 Crown Isle 高爾夫和度假社區 Greystone Estates 的豪華住宅，面積為 2946 平方英呎，擁有三間臥室和三間浴室。
Crown Isle 房地產總監 Jason Andrew 說：“這棟大宅子非常優雅，可以俯瞰高爾夫球場的壯觀美景，是夢寐以求的地方。”
住宅内部設計舒適奢華，更是娛樂天堂。擁有超大的厨房中央島，配備石英檯面和定製抽油煙機、36 英吋不銹鋼燃氣灶、水槽、洗碗機、雪櫃以及隱藏式步入式管家間。餐廳更擁有 10 英呎天花板和超大水晶吊燈，盡顯豪華。
後院有一個帶頂棚的露台，天花板高 10 英呎，設有一個大型燃氣燒烤架和壁爐，一年四季都可進行戶外娛樂活動。在室內，家庭活動室是另一個娛樂區，設有拱形天花板和吧檯區，一個帶頂棚的大露台可以欣賞高爾夫球場景觀。
夢想彩票代言人 Erin Cebula 說：“在我為卑詩省兒童醫院基金會彩票工作的 16 年裡，從未提供過這麼多令人驚喜的獎品。今年有 10 個套餐可供選擇，令人難以置信。今年對許多省民來說，日子並不輕鬆。支持公益的同時，還有機會贏得一個新家、一次旅行或大筆現金，太令人興奮了。我很期待這次提供的海島生活方式大獎——溫哥華島就是擁有一種神奇的魅力。”
誠邀您登錄 bcchildren.com 購買夢想彩票，支持善舉之餘，也圓夢於此。