Todayismyfirstdaytoseept.Iwasverybusyandproductive.Isawtwolittlepatients.Thefirstpatientwasonly3weeksold.Hehadsomemalformationsincludinghypospadia,clubfeet.Hisgreattoesweresignificantlylongerthanthatofnormalinfants.Histhumbsweremalpositioned.Hiskaryotypeshowedthathehad3-waybalancedtranslocation.Wethinkitwasdenovo.Sothenextstepsare1)testingwhetherthereisgeneticmaterialmissingorextra;whethertherea...[
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SummerreadingsummaryDuringthesummervacation,I’vereadseveralpersonalaccountsincluding“Thecure”aboutafather’sfightforPompedisease;“Countusin”abouttwoteenagers’triumphantlifewithDownsyndrome;“Worththeride”aboutaproductivelifeofaDMDpatientand“Theyearofmagicalthinking”abouthandlinggriefcausedbytheauthor’shusband’ssuddendeath;“Sarah’ssong”aboutfightingandsurvivingwithHIV.Everystoryishear...[
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儿子在他的新学校已经上了一个星期了,总的说来,真是不错。尽管每天好事有些许的SEPARATIONANXIETY,但毕竟和同学已经开始打成一片,用不了多久,儿子又会是个SUPERSTAR了。上学没两天,儿子放学严肃的告诉我:“妈妈,我今天教到了第一个好朋友。”“好啊,叫什么名字,男孩还是女孩?”“我也不知道叫什么名字,反正坐我旁边,是女孩。”看着儿子一本正经的样[
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Lorenzo’sOilWewatchedthemovie“Lorenzo’sOil”intoday’scounselingclass.ThemoviedepictedthelifeofOdone’sfamilywiththeirsicksonwhosufferedadrenoleukodystrophy(ALD),afatalgeneticdisorder.It’sahorribledisease.I’vereadbooksaboutPompedisease,DMD,Downsyndrome.However,whenIwatchedthismovieandsawhowmuchtheboyandhisparentssuffered,Ifeelsosorryforthem.Ametabolicdisordercouldtortureapatientandmadehi...[
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WemetAllysonandhersonPeterinourcounselingclass.Peterhasspinalmuscularatrophy(SMA)sincehewasborn.TheaimofmeetingthemistoexposeusGCstudentsinrealworld,learnthewaypeoplewithdisabilitydealingwiththeirlifeonadailybasis,thehardshipspatients’familygetthroughwhichwehealthypeoplebarelythinkabout.Thestoryistouchingandinspiring,likemanyotherpersonalaccountsI’veread.ItallstartedwhenPeterwasabout6months...[
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Todayismyfirstdaybacktoschool.Ihavenotbeenastudentforalongwhile.Definitelyneedsometimetoadjustmyself.Meanwhile,Iamestablishinganewbranchinmyblognamed“GeneticCounseling”,whichismycurrentmajorforthenext2years.Iwanttojournalwhathappensintheensuingtwoyears,especiallycasesIwillstudyandskillsIwilldevelop.Inaddition,Ihopemorepeoplewilllearnandunderstandgeneticcounselingasagrowingprofessionthroughm...[
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