Rare but Deadly

Rare but Deadly

 

By Susan Brink¹ /©2005,

U.S. News & World Report.

All rights reserved with permission.

Distributed by Tribune Media Services International.

 

 

Simple, cheap blood tests could save thousands of kids’ lives every year

 

1

Two cousins, two babies, two outcomes. The six years between the births of Toni Cline’s daughter and her cousin Sharon Allen’s son made all the difference between tragedy and joy. Kasie Cline died in 1991 of a rare disorder² known as MCAD. “She was very sweet, very easygoing,” says Toni. Perhaps too easygoing. She slept through the night almost immediately. Her parents had to wake her to feed her in the morning. “How many people wake up their infants?” she says. Now she knows that Kasie’s glucose³ level dropped abnormally during the night, making her lethargic⁴. It would rise with her morning feeding, setting her right for the day. One morning, when Kasie was 9 months old, her parents tried to wake her and found her limp, her breathing shallow. The Clines called 911, but Kasie died of cardiac arrest in the hospital. Doctors later discovered Kasie had had MCAD.

 

Joshua Allen, born in 1997 with the same disorder, is today a healthy, energetic 7-yearold. What happened after Kasie’s death and before Joshua’s birth was the development of technology called tandem⁵ mass spectrometry, capable of screening newborn infants for MCAD as well as a variety of other rare disorders⁶. With screening, physicians and metabolic⁷ nutritionists can develop treatment plans to save lives.

 

Too late

 

Without screening, the disorders are discovered only when the infant becomes deathly ill. Consequences of delayed treatment of these hidden disorders can include seizures⁹, retardation¹⁰ and death.

 

The American College of Medical Genetics’ newborn screening panel recommends that screening for 29 rare disorders become routine in the examination of newborns. All are treatable if discovered early, and none is obvious to pediatricians in the hospital nursery.

Vocabulary Focus

easygoing (adj) [5i:zi^EuiN] relaxed and not easily upset or worried

lethargic (adj) [le5WB:dVik] lacking energy; feeling unwilling¹¹ and

unable to do anything

screen (v) [skri:n] to test or examine people or things to discover

if there is anything wrong with them

 

Specialized¹² Terms

glucose (n) 葡萄糖 the main sugar that circulates in the blood and the primary supply of energy for the body; a type of sugar found in plants, especially fruit

cardiac arrest (n) 心脏衰竭；心跳停止 a condition in which the heart suddenly stops beating; a heart attack

tandem mass spectrometry (n) 串联质谱技术 a process used in medical laboratories to sort and weigh samples that are then broken down into smaller pieces, sorted and weighed again; the procedure is used in newborn screening to detect molecules¹³ such as the building blocks of proteins and fatty acids

metabolic nutritionist (n) 新陈代谢营养师 a registered dietician specializing in nutritional¹⁴ assessment¹⁵ and treatment of the chemical processes in the body that cause food to be used for energy and growth

seizure⁸ (n) （病的）发作；痉挛 a very sudden attack of a condition involving violent movement, unconsciousness or both

retardation (n) 智能障碍 the condition of having a limited ability to learn or understand; slow development

pediatrician (n) 儿科医师 a doctor with special training in medical care for children

罕见却致命的疾病

张梵 译

 

简单、价格低廉的验血，每年可拯救数以千计的儿童生命

 

1

一对表姐妹，两个婴儿，两种结果。托妮·克莱的女儿与托妮表妹莎朗•艾伦的儿子出生相隔6年，这6年的差距带来悲剧与喜悦的天壤之别。凯丝•克莱于1 9 9 1年因患有罕见的中链脂肪酸脱氢酶缺乏症（MCAD）死亡。托妮说：“凯丝很贴心，脾气非常温和。”但或许是过于温和了。凯丝夜晚几乎可以立即入睡直到天明，而父母早上则必须唤醒她才能喂奶。托妮说：“有多少父母需要叫醒新生儿？”如今托妮知道凯丝的血糖值于夜晚异常下降，令她昏昏欲睡，白天喂奶后则上升，让她恢复体力。凯丝9个月大时的某一天早上，父母设法叫醒她时发现她软弱无力，呼吸微弱。克莱夫妇赶紧拨打911求救，但凯丝仍在医院死于心力衰竭。医师们随后发现凯丝患有MCAD。

乔舒亚·艾伦于1997年出生，也患有同样疾病，但今天却是一个健康、精力充沛的7岁男孩。在凯丝死亡后至乔舒亚出生这段时间，串联质谱技术问世，可为新生儿筛检出MCAD及其它各种罕见疾病。医师及新陈代谢营养师利用筛检，可拟定拯救幼小生命的计划。

 

为时已晚

若无筛检，这些疾病只有当婴儿病危时才会被发现。这些隐性疾病因延误就医而导致的后果包含痉挛、智能障碍及死亡。

美国医学遗传学院新生儿筛检委员会建议，新生儿身体检查时应例行筛检29种罕见疾病。虽然所有罕见疾病若及早发现都可治疗，但其症状对医院育儿室的儿科医师而言，并不明显。

1 brink   

n.(悬崖、河流等的)边缘，边沿

参考例句：

• The tree grew on the brink of the cliff.那棵树生长在峭壁的边缘。
• The two countries were poised on the brink of war.这两个国家处于交战的边缘。

2 disorder   

n.紊乱，混乱；骚动，骚乱；疾病，失调

参考例句：

• When returning back,he discovered the room to be in disorder.回家后，他发现屋子里乱七八糟。
• It contained a vast number of letters in great disorder.里面七零八落地装着许多信件。

3 glucose   

n.葡萄糖

参考例句：

• I gave him an extra dose of glucose to pep him up.我给他多注射了一剂葡萄糖以增强他的活力。
• The doctor injected glucose into his patient's veins.医生将葡萄糖注入病人的静脉。

4 lethargic   

adj.昏睡的，懒洋洋的

参考例句：

• He felt too miserable and lethargic to get dressed.他心情低落无精打采，完全没有心思穿衣整装。
• The hot weather made me feel lethargic.炎热的天气使我昏昏欲睡。

5 tandem   

n.同时发生；配合；adv.一个跟着一个地；纵排地；adj.（两匹马）前后纵列的

参考例句：

• Malcolm's contract will run in tandem with his existing one.马尔科姆的合同将与他手头的合同同时生效。
• He is working in tandem with officials of the Serious Fraud Office.他正配合欺诈重案办公室的官员工作。

6 disorders   

n.混乱( disorder的名词复数 )；凌乱；骚乱；（身心、机能）失调

参考例句：

• Reports of anorexia and other eating disorders are on the increase. 据报告，厌食症和其他饮食方面的功能紊乱发生率正在不断增长。 来自《简明英汉词典》
• The announcement led to violent civil disorders. 这项宣布引起剧烈的骚乱。 来自《简明英汉词典》

7 metabolic   

adj.新陈代谢的

参考例句：

• Impressive metabolic alternations have been undergone during embryogenesis.在胚胎发生期间经历了深刻的代谢变化。
• A number of intoxicants are associated with metabolic acidosis.许多毒性物质可引起代谢性酸中毒。

8 seizure   

n.没收；占有；抵押

参考例句：

• The seizure of contraband is made by customs.那些走私品是被海关没收的。
• The courts ordered the seizure of all her property.法院下令查封她所有的财产。

9 seizures   

n.起获( seizure的名词复数 )；没收；充公；起获的赃物

参考例句：

• Seizures of illicit drugs have increased by 30% this year. 今年违禁药品的扣押增长了30%。 来自《简明英汉词典》
• Other causes of unconsciousness predisposing to aspiration lung abscess are convulsive seizures. 造成吸入性肺脓肿昏迷的其他原因，有惊厥发作。 来自辞典例句

10 retardation   

n.智力迟钝，精神发育迟缓

参考例句：

• Asbestos reinforcement confers excellent flame retardation properties on a composite. 石棉增强材料使复合材料具有优异的防火性能。
• The theory confirms the increase in the retardation effect with decrease in particle size. 理论证实，随着颗粒尺寸的减小，这一减速效应将增大。

11 unwilling   

adj.不情愿的

参考例句：

• The natives were unwilling to be bent by colonial power.土著居民不愿受殖民势力的摆布。
• His tightfisted employer was unwilling to give him a raise.他那吝啬的雇主不肯给他加薪。

12 specialized   

adj.专门的，专业化的

参考例句：

• There are many specialized agencies in the United Nations.联合国有许多专门机构。
• These tools are very specialized.这些是专用工具。

13 molecules   

分子( molecule的名词复数 )

参考例句：

• The structure of molecules can be seen under an electron microscope. 分子的结构可在电子显微镜下观察到。
• Inside the reactor the large molecules are cracked into smaller molecules. 在反应堆里，大分子裂变为小分子。

14 nutritional   

adj.营养的，滋养的

参考例句：

• A diet lacking in nutritional value will not keep a person healthy.缺乏营养价值的饮食不能维持人的健康。
• The labels on food products give a lot of information about their nutritional content.食品上的标签提供很多关于营养成分的信息。

15 assessment   

n.评价；评估；对财产的估价，被估定的金额

参考例句：

• This is a very perceptive assessment of the situation.这是一个对该情况的极富洞察力的评价。
• What is your assessment of the situation?你对时局的看法如何？