托马斯的礼物
How one young man with a genetic disorder is a teaching tool and an inspiration to a group of 十大网投平台信誉排行榜阿尔图纳分校 生物学 students
In 2010, Scott and Shelley Lill were preparing for the birth of their son. They were also preparing for his death.
Doctors had informed them that something was genetically wrong with their baby, 他也没指望能活下来.
When he arrived, Scott and Shelley named him Thomas.
托马斯过了他的第一个生日. 然后是他的第二个. 然后是第五次和第十次.
托马斯现在十三岁了, and he and his family are providing a human angle to one 十大网投平台信誉排行榜阿尔图纳分校 生物学 course.
The Lill family celebrates Christmas. From left to right: Clare, Shelley, Thomas, Scott, and Anna.
来源:利尔家族
Biology 460 is an upper-level course in human genetics taught by Dr. Laura Palmer, associate professor of 生物学. This past fall was her third time teaching the course, but her first bringing the Lill family into it.
“在这样的课堂上, it’s very easy to get lost in the molecular details at the DNA level and forget the big picture. I wanted to remind students that as we talk through conditions caused by different defects in DNA, individuals with these defects are people first, not just a list of symptoms or diagnoses.”
Best friends: Thomas and Laura Palmer, associate professor of 生物学 at 十大网投平台信誉排行榜阿尔图纳分校
来源:劳拉·帕尔默
Palmer’s friendship with the Lills brought not only some unique insight into the course but also an actual connection to a family dealing with the ramifications of a severe genetic disorder.
在这学期的课程中, there wasn’t a class in which students weren’t able to take textbook concepts and relate them back to Thomas’s case. 不足为奇的是, they became more and more curious about and invested in him—just what Palmer hoped for.
So, who exactly is this special young man?
托马斯·里尔上八年级. He loves McDonalds and McNuggets, swimming, climbing, and dancing. He also loves pizza and candy, specifically tootsie rolls, Hershey bars, and Twizzlers.
托马斯喜欢他的鸡块!
来源:利尔家族
托马斯有两个姐姐, 安娜和克莱尔, 还有一个哥哥, 丹尼尔, 谁在出生一小时后就去世了.
直到他八岁的时候, after genetic testing at the Children's Hospital in Seattle, doctors discovered that Thomas has a mutation in his KIF4A gene, which is important for proper fetal development. They were able to confirm that 丹尼尔 had the same mutation. 就目前所知, Thomas is the only person with this particular mutation who is alive, 让他成为千万分之一.
Some of his symptoms include deaf-blindness, 小头盖骨, brain malformation and intellectual disabilities, 癫痫, 多囊肾. He is also nonverbal, so his main method of communicating is through touch and smell. He often puts his hands around a person’s throat to feel the vibrations as they speak. He loves to rock with others in the recliner in his bedroom: the physical motion is soothing to him and is also another way to interact with the world.
As she built the course, Palmer ideally wanted to bring students and the Lills together in person. But being protective of Thomas and his family, she needed to be certain that they wouldn’t feel on display.
“There needed to be a connection and something more than just plain curiosity. I wanted it to be a meaningful and positive experience for everyone.” After a few months of teaching and getting to know students in the course, Palmer felt certain that it would be. “They are smart, and they're curious. They're great students, but more importantly, they are really good humans.”
Four of the six students were able to spend a Saturday evening in November at the Lill home. 这是轻松和非正式的, just some food and a few hours of chatting with Scott and Shelley, 会见安娜和克莱尔, 当然, 托马斯自己.
Four 十大网投平台信誉排行榜阿尔图纳分校 生物学 students were able to hang out with Thomas and his family one evening in November.
Left to Right: Back row—Kyle Rennell, Nicole Flanders, Laura Palmer, Thomas, Shelley. Front row—Rachel Sleeth, Hannah Roesch. Students there in spirit—Joyce Zheng, Dylan Hartmann.
来源:劳拉·帕尔默
“他们是最善良的, 最了不起的人,凯尔·伦内尔说, who is studying to become a physician assistant. “Scott and Shelley were so welcoming. I’m grateful that they opened their home to us and trusted us with their son.”
Palmer says Thomas immediately took to each student as he was introduced to them, giving big hugs and taking them to his bedroom to rock with him.
Unsure of what to expect, Nicole Flanders had been a bit nervous but was quickly put at ease. “I just put my hands out to him, and it was so natural and comfortable. I rocked with him for about ten minutes, and it was just really heartwarming.”
对帕尔默, watching some of her best students interact so genuinely with some of her favorite people was just what she’d hoped for. “It was exactly what I had envisioned, that there would be a real connection. That’s what happened, and it was beautiful.”
Scott and Shelly answered questions and spoke candidly about their day-to-day life and the challenges they face. They shared their experiences and frustrations with the healthcare system, 包容性, 和教育. They also talked about trying to be good parents to two other children and good partners to each other.
“We were able to see into the most vulnerable parts of a family with a medically complex member,伦内尔说。. “This was a learning experience we could never get in a classroom.”
Many of the students in this course, past and future, are headed for careers in health care. They will be interacting with adults and children who have rare diseases and genetic anomalies and their families: this was a big factor in the Lills allowing Palmer to use them as the basis for the class and for opening their home.
“我们的家庭是真实存在的. It may be complicated, but we are all doing our best to make a go of it,” says Shelley. “I hope getting a personal look into our lives instills in these students a sense of compassion for others in similar situations. I hope they take away from the experience that there are real people tied to diagnoses, 遗传疾病, and syndromes and that they are so much more than what is on paper.”
Flanders is thinking about a career in evolutionary 生物学. She says it boggles her mind to contemplate how the 单 nucleotide change that caused Thomas’s disorder has affected his entire system at such a magnitude. “It’s easy to get caught up in the fascination of a disease or disorder and not see the broader picture. Allowing the whole family or support system to have a voice is something I’ve come to understand more because of the Lills.”
在接下来的几周里, students were excited to talk with each other and Palmer about their time with Thomas and his family. They asked more questions and discussed topics like genetic testing and ethics. They brought ideas on how to adapt activities so Thomas can participate, ways to streamline his medical appointments and care, and even how the family could manage a vacation despite Thomas’s extreme rigidity to a schedule.
“It’s been interesting to watch the wheels turn for these students in and out of class,” says Palmer. “To me, that means I was able to plant seeds in their minds. I can't cure Thomas, but I can advocate for him, and this is one way I’ve been able to do that.”
There is much to learn from Thomas’s family, 他的情况, 还有托马斯自己的教训, 礼物真的, that students have already taken to their minds and hearts.
“托马斯只是活在当下, and to see him do things he shouldn’t be able to do is just incredible and really inspiring,伦内尔说。.
Scott and Shelley have invited the students to return in the summer to go swimming. 佛兰德斯对此非常期待. “At the end of our night with Thomas, I felt like I was just hanging out with old friends. I left there wanting to keep that friendship going. I didn’t expect that, and it’s become really important to me.”
For all that has gone wrong with Thomas because of his genetic disorder, Palmer prefers to focus on what went right. What worked correctly so that he survived, and 丹尼尔 didn’t when they share the same mutation? What has gone right so that Thomas can walk and run and swim, that he can laugh and learn and love?
“我称托马斯为我的祝福. He grounds me in a way that nobody else does,” Palmer says. She points out that he doesn’t care about how much money someone makes, he doesn't care what clothes people wear, how many papers they’ve published or their level of success. “All Thomas cares about is that you spend time with him. 他帮助我记住要在场. He reminds me that human experience is about connecting, and it’s about emotion. 这对我来说很特别. No other person fills that role for me.”
这些是托马斯的礼物.
