Lionel's Journey: From "Dancing Eyes" to Seeking Answers
Lionel的旅程：从“跳舞的眼睛”到寻找答案
In the heart of Chengdu, China, Lionel entered the world on an eventful day - Tomb Sweeping Day, a time when Chinese traditions honor ancestors with visits to their graves and offerings of paper money. Like any other baby, Lionel brought joy with his cuteness, laughter, and, of course, the typical baby messiness. Yet, something seemed different - when he reached six months old, his little eyes began to exhibit an unusual shaking motion. Puzzled and concerned, we turned to the vast realm of the internet for possible answers.
答案从中国的心脏地带——成都开始，Lionel在一个特殊的日子里降生了 —— 清明节，中国用来纪念先祖的传统节日。和其他婴儿一样，Lionel的可爱、笑声以及新生儿时期的混乱给我们带来了欢乐。然而，有些事情似乎有些不同 ——当他满六个月时，他的小眼睛开始表现出异常的颤动。困惑和担忧下，我们转向了互联网寻找可能的答案。
The internet informed us that the proper medical term for Lionel’s “dancing eyes” was called “nystagmus”. Though rare, we discovered that nystagmus is not a standalone eye disease; rather, it presents itself as a symptom of various underlying eye conditions. The severity of visual impairments can vary greatly among individuals with nystagmus, which left my wife and me anxious until we could consult a retinal specialist in the United States for a clearer understanding of Lionel's condition.
互联网告诉我们，Lionel的“跳舞的眼睛”合适的医学术语叫做“眼球震颤”。虽然罕见，但我们发现眼球震颤并不是独立的眼部疾病；相反，它表现为各种潜在的眼部疾病的症状。视力障碍的严重程度在患有眼球震颤的个体中可能有很大的变化，这让我和妻子感到不安，直到我们能够咨询美国的眼科专家，以更清楚地了解Lionel的情况。
When the Chinese New Year break finally came, our family took a trip across the "great blue wet thing" to experience a frigid Minnesota February. The visit to the inherited retinal specialist left us even colder with uncertainty. The doctor couldn't give us a definite answer on Lionel's vision; he just informed us that it was very low and that he might even be blind. My mind went blank, and panic seized me. With a shaky voice, I managed to ask what we could do, and his answer was disheartening - not much for now, except to make sure Lionel wore prescription glasses every waking moment to maximize what little vision he had during this important developmental period when brain and vision pathways were being established.
当中国农历新年假期终于到来时，我们一家人跨越大洋，在一个寒冷的明尼苏达的二月，咨询完遗传性视网膜专家后让我们感到如坠冰窖。医生无法就Lionel的视力给出明确答案：他只是告诉我们视力会非常低，甚至可能失明。我的当时一片空白，惊慌失措。我勉强用颤抖的声音问我们能做什么，他的回答令人沮丧 ——目前除了确保Lionel在醒着的每时每刻都戴上眼镜，以最大限度地发挥他在大脑和视觉路径建立的重要发育时期的微弱视力，其余的别无他法。
In the months that followed, we clung to hope, placing toys within reach of Lionel to reassure ourselves that he could see. Although the news about his eyes seemed bleak, we found solace in the doctor's vague diagnosis, hoping that sheer optimism could somehow fix his eyesight alone.
在随后的几个月里，我们紧紧抓住希望，把玩具放在Lionel够得着的地方，以安慰自己他能看到。尽管关于他的眼睛的消息看似黯淡，但我们在医生模糊的诊断中找到了安慰，希望单纯的乐观主义能以某种方式修复他的视力。
Six months later, with scratched lenses, we returned to the doctor seeking answers, but our questions went largely unanswered. We asked about a genetic test, but the doctor suggested it was unnecessary unless we wanted to know which parent Lionel inherited his retinal blindness from - a question we preferred not to delve into. The 10-minute visit left us frustrated and melancholic, uncertain about what we could/should do next.
六个月后，镜片有了磨损，我们回到原来的医生那里寻找答案，但我们的问题大多无法得到回答。我们询问了基因测试，但医生建议除非我们想知道Lionel从哪一方继承了视网膜问题，否则没有必要进行测试 ， 这是我们不愿深入探讨的问题。10分钟的拜访让我们感到沮丧和忧郁，对接下来必须或者应该做什么感到不确定。
Then, the world was swept by the COVID pandemic, preventing us from revisiting the U.S. for over three years. But Lionel did see an eye specialist in China, Dr. Yu Gan, who offered more clarity about his condition. Dr. Yu recommended a genetic test to precisely identify what was causing Lionel's low-eye vision and explore available treatments. Although I am grateful for knowing more about what gene impacts Lionel’s vision, the test results were devastating when we first received them. Lionel was born with Leber's Congenital Amaurosis-type 8, a rare and severe degenerative eye disease that leads to permanent blindness. It felt like a crushing blow, but knowing his specific gene mutation gave us a glimmer of hope – recent advancements in genetic therapies for retinal diseases offered a ray of light.
然后，全世界被新冠疫情席卷，我们在三年多的时间里无法去到美国。期间Lionel在北京看了一位眼科专家 ——余刚教授，他为我们提供了更清晰的解释。余医生建议进行基因测试，以精准确定导致Lionel低视力的原因，并探索可用的治疗方法。我们非常感激了解到更多关于Lionel视力基因的信息，但在我们第一次收到测试结果时，这是崩溃的。Lionel患有Leber的先天性黑曚8型，这是一种罕见且严重的进行性眼部疾病，会随着时间进行视力继续下降直至失明。这感觉像是一击致命，但了解到他的具体基因突变给了我们一线希望 —— 最新的基因治疗技术在治疗视网膜疾病方面提供了一线曙光。
Lionel climbs the Great Wall in Beijing with his Popo (grandmother.)
Lionel与婆婆一起攀登北京长城
Through the CRB1.org website, we found a remarkable community of families rallying together, raising funds, and advocating for treatments to cure retinal blindness. Within the next few years, clinical trials with human participants targeting CRB1 mutations might become a reality. The stories of these families and individuals affected by this rare disease brought me to a place of acceptance for Lionel's condition. For as rare as the disease was, my family was not the only one.
通过CRB1.org网站，我们找到了一个杰出的家庭社区，他们齐心协力，筹集资金，并倡导治疗视网膜病变的方法。在接下来的几年里，针对CRB1突变的人体临床试验可能会成为现实。这些家庭和受到这种罕见疾病影响的个体的故事让我接受了Lionel的情况。尽管这种疾病很少见，但我的家庭并不是唯一的一个。
The following year after receiving the results of the test was a rollercoaster of emotions. Lionel's good humor, positive nature, and infectious smile brought joy to our hearts, but my wife and I frequently broke down in tears in our bedroom. Acceptance wasn't a linear journey, but with the help of a low-eye vision expert, the CRB1 community, and unwavering love for our son, we made it through. This path toward acceptance is difficult for any parent, but especially those who live in China, a country that places strong values on uniformity and where the social stigma surrounding blindness persists. Some older generations even believe blindness is a consequence of misbehavior or lack of parental oversight. For example, they will often attribute a child’s blindness to watching TV too closely or that the mother did not take care to properly nourish her baby. Families of blind children often carry a sense of shame. Additionally, the lack of resources for blind people makes it difficult to overcome the obstacles people with low-eye vision encounter in life. The typical and only job available to most blind people is to be a masseuse. Due to the shame and limited opportunities, many Chinese families prefer to continue living in denial, than accept the reality.
在接到测试结果后的第二年是一段充满情感过山车的时期。Lionel的幽默感、积极的天性和具有感染力的微笑给我们带来了喜悦，但我和妻子经常在卧室里哭泣。接受并接纳这一事实的旅程充满了挑战，但在低视力联盟、CRB1社区的帮助下以及对儿子的坚定不移的爱，我们度过了难关。对于任何父母来说，这条通往接受的道路都很艰难，尤其是生活在中国这个强调统一性的国家，围绕失明的社会耻辱感仍然存在。一些老一辈甚至认为失明是行为不当或缺乏父母监督的后果。例如，他们经常会将孩子的失明归因于看电视太近，或者母亲没有注意合适的哺育她的婴儿。盲童的家庭经常带着一种羞耻感。此外，对于视力不佳的人来说，缺乏资源使他们难以克服生活中遇到的障碍。大多数视障人士唯一的工作是按摩师。由于羞耻感和有限的机会，许多中国家庭更愿意继续否认现实，而不是接受现实。
Fast forward a few years and Lionel is now five years old. Although his visual limitations are becoming more apparent, his confidence hasn’t wavered. He remains exceptionally gifted with the ability to make instant friends with just about anybody and his smile is always infectious. I just hope he is able to keep his wonderful grin as his journey becomes more difficult.
快进几年，Lionel现在五岁了。尽管他的视觉局限性变得更加明显，但他的自信心并没有动摇。他有与几乎任何人都能迅速交上朋友的天赋，他的微笑总是令人感到愉快的。我们只希望在他的旅程变得更加困难时，他能够保持他美好的微笑。
As part of our "Hope in Motion" run, we want to teach Lionel that together as a team, we can conquer the obstacles life throws our way. Our journey is fueled by hope, love, and determination to make a positive impact, supporting research and raising awareness for retinal blindness. We invite you to join us on this compelling adventure by reading and sharing our weekly stories, advocating for the blind community, and donating to the Curing Retinal Blindness Foundation at https://www.crb1.org/get-involved/donate/. Thank you!
作为“触摸未来”的一员，我们希望教会Lionel，作为一个团队，我们可以一起征服生活中的障碍。我们的旅程是由希望、爱和决心推动的，并能转化成积极的影响——支持研究并提高对视网膜病变的认识。我们邀请您加入这个引人入胜的冒险，通过阅读和分享我们的每周故事，倡导无障碍社区，并捐款给视网膜研究基金会。谢谢！ https://www.crb1.org/get-involved/donate/
Lionel with his friend, Noah. Noah also has LCA and was born with limited eye vision.
Lionel和他的朋友Noah。Noah也是一名的先天性黑朦患者。
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