【创作不易，您的关注是我持续的动力】
坚强的小女孩
一个名叫小伊伊的坚强小女孩的母亲讲了这个故事：小伊伊两岁了，5个月大时，她开始出现癫痫发作和呕吐，随后出现无力和肌肉痉挛。这些症状每月发生一次或两次，现在变得更严重了。每次发作持续10多个小时。癫痫专家完成评估后，她的诊断结果出来了。她被诊断为SUOX突变/迟发性孤立性亚硫酸盐氧化酶缺乏。这个病太罕见了，医学文献中仅有50例已知病例。迟发性孤立性亚硫酸盐氧化酶缺乏症的预期寿命未知。
This the mother of a strong little girl named Elizabeth, who is two years old. When she was five months old, she started having episodes of seizures and vomiting followed by weakness and muscle spasms. They occurred once or twice a month and have now gotten more aggressive. The episodes would start lasting 10+ hours. After an epilepsy panel was completed, her diagnosis came to light. She was diagnosed with the SUOX mutation/late onset isolated sulfite oxidase deficiency. It’s so rare that there were only 50 known cases in medical literature. Life expectancy is unknown for late onset isolated sulfite oxidase deficiency.
<生词学习：weakness muscle spasmrare>
这位妈妈鼓励人们时刻保持警觉。任何人都可能得遗传病，有时甚至都不知道已经患病。这位妈妈认为，如果有人要求他们的医生给孩子做个基因测试，这不该被拒绝。当这位妈妈第一次试图带她的孩子去做基因测试时，那位老神经科医生看着她的眼睛说，“不，除非我们在她的脑电图测试中看到癫痫发作”。她的新神经科医生则说，有时脑电图不会捕捉到癫痫发作，除非癫痫正在发作。
The mother encourages people to always be aware. Anyone can have a genetic disease and not even know. She believes that if someone asks their doctor for genetic testing, it should be accepted. When she first tried to get her child genetic testing, the old neurologist looked her in the eye and said “no, until we see a seizure on her EEG test”. But the new neurologist stated some EEGs will not catch a seizure unless it is happening.
<生词学习：aware>
鼓励人们保持警觉
对她和她的家人来说，他们可能正在进行一场你甚至都不知道的战斗。永远善良、关心他人，为希望而共同努力。
They could be fighting a battle you don’t even know. Always be kind and caring and work together for hope.
<生词学习：battle>
永远善良、关心他人，为希望而共同努力