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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兒子在他的新學校已經上了一個星期了,總的說來,真是不錯。盡管每天好事有些許的SEPARATIONANXIETY,但畢竟和同學已經開始打成一片,用不了多久,兒子又會是個SUPERSTAR了。上學沒兩天,兒子放學嚴肅的告訴我:“媽媽,我今天教到了第一個好朋友。”“好啊,叫什麽名字,男孩還是女孩?”“我也不知道叫什麽名字,反正坐我旁邊,是女孩。”看著兒子一本正經的樣[
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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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