Thomas’s Gifts
How one young man with a genetic disorder is a teaching tool and an inspiration to a group of Penn State Altoona biology students
2010年，斯科特和雪莱·里尔正准备迎接他们儿子的出生. 他们也在为他的死亡做准备.
医生告诉他们，他们的孩子在基因上有问题, and he was not expected to live.
当他到达时，斯科特和雪莱给他起名叫托马斯.
Thomas reached his first birthday. Then his second. Then his fifth and tenth.
Thomas is thirteen now, and he and his family are providing a human angle to one Penn State Altoona biology course.
The Lill family celebrates Christmas. 从左至右:克莱尔、雪莱、托马斯、斯科特和安娜.
Credit: The Lill Family
生物学460是人类遗传学的一门高级课程. 劳拉·帕尔默，生物学副教授. 去年秋天是她第三次教这门课, 但她首先要把莉尔一家带进来.
“In a class like this, 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, 有这些缺陷的人首先是人, 不仅仅是症状或诊断的列表.”
Best friends: Thomas and 劳拉·帕尔默，生物学副教授 at Penn State Altoona
Credit: Laura Palmer
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.
Over the course of the semester, there wasn’t a class in which students weren’t able to take textbook concepts and relate them back to Thomas’s case. Not surprisingly, they became more and more curious about and invested in him—just what Palmer hoped for.
那么，这个特别的年轻人到底是谁?
Thomas Lill is in the eighth grade. 他喜欢麦当劳和麦乐鸡，喜欢游泳、攀岩和跳舞. He also loves pizza and candy, specifically tootsie rolls, Hershey bars, and Twizzlers.
Thomas loves his chicken nuggies!
Credit: The Lill Family
Thomas has two older sisters, Anna and Clare, and an older brother, Daniel, who passed away an hour after birth.
It wasn’t until he was eight that, 在西雅图儿童医院进行基因检测后, 医生发现托马斯的KIF4A基因发生了突变, 哪个对胎儿的正常发育很重要. 他们确认丹尼尔也有同样的突变. As far as is known, 托马斯是唯一拥有这种特殊突变的人, making him one in tens of millions.
他的一些症状包括聋盲, a small cranium, 大脑畸形和智力残疾, epilepsy, and polycystic kidneys. 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. 但为了保护托马斯和他的家人, 她需要确定它们不会有被展示的感觉.
“需要有一种联系，而不仅仅是单纯的好奇心. 我希望这对每个人来说都是一次有意义和积极的经历.“经过几个月的教学和对学生的了解, Palmer felt certain that it would be. “They are smart, and they're curious. 他们是优秀的学生，但更重要的是，他们是真正的好人.”
Four of the six students were able to spend a Saturday evening in November at the Lill home. It was light and informal, 吃点东西，和斯科特和谢莉聊几个小时, meeting Anna and Clare, and of course, Thomas himself.
Four Penn State Altoona biology 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. 前排:蕾切尔·斯利斯，汉娜·罗什. 精神上的学生——乔伊斯·郑，迪伦·哈特曼.
Credit: Laura Palmer
“They're just the kindest, most fantastic people,” says Kyle Rennell, 谁正在学习成为一名医师助理. “Scott and Shelley were so welcoming. 我很感激他们向我们敞开家门，把他们的儿子托付给我们.”
帕尔默说，当托马斯被介绍给每个学生时，他立刻就喜欢上了他们, 给他一个大大的拥抱，带他们去他的卧室和他一起摇滚.
Unsure of what to expect, Nicole Flanders had been a bit nervous but was quickly put at ease. “我只是把手伸给他，感觉很自然、很舒服. 我和他一起摇了大约十分钟，真的很暖心.”
For Palmer, watching some of her best students interact so genuinely with some of her favorite people was just what she’d hoped for. “这正是我所设想的，我们之间会有真正的联系. 事情就是这样发生的，而且很美好.”
Scott and Shelly answered questions and spoke candidly about their day-to-day life and the challenges they face. 他们分享了自己在医疗体系中的经历和挫折, inclusivity, and schooling. 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,” says Rennell. “这是我们在课堂上永远无法获得的学习体验.”
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.
“Our family is real. 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, genetic disorders, 还有综合症，它们比纸上写的要多得多.”
弗兰德斯正在考虑从事进化生物学方面的职业. 她说，这让她难以想象如何 single 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.”
In the following weeks, students were excited to talk with each other and Palmer about their time with Thomas and his family. 他们问了更多的问题，并讨论了基因检测和伦理等话题. 他们提出了如何调整活动以便托马斯能够参与的想法, 简化他的医疗预约和护理的方法, 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. “对我来说，这意味着我能够在他们的思想中播下种子. I can't cure Thomas, but I can advocate for him, and this is one way I’ve been able to do that.”
我们可以从托马斯的家庭中学到很多东西, his condition, and from Thomas himself—lessons, gifts really, 学生们已经记在心里了.
“Thomas just lives in the moment, and to see him do things he shouldn’t be able to do is just incredible and really inspiring,” says Rennell.
Scott and Shelley have invited the students to return in the summer to go swimming. Flanders is looking forward to it. “At the end of our night with Thomas, I felt like I was just hanging out with old friends. 我离开那里是想让我们的友谊继续下去. 我没想到这一点，这对我来说真的很重要.”
托马斯因为遗传疾病而出了那么多问题, 帕默更喜欢关注正确的事情. What worked correctly so that he survived, and Daniel 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?
“I call Thomas my blessing. 他以一种别人做不到的方式让我扎根，”帕尔默说. 她指出，他不在乎别人挣多少钱, 他不在乎人们穿什么衣服, 他们发表了多少篇论文或者他们的成功程度. “托马斯只在乎你和他在一起. He helps me remember to be present. 他提醒我，人类的经历是关于联系，是关于情感的. That’s very special to me. 没有人能代替我担当这个角色.”
These are Thomas’s gifts.
