Expanded #newbornscreening with tandem mass spectrometry for amino acidopathies, organic acidemias and fatty acid oxidation disorders became a reality in Missouri on July 1, 2005! #nbs2022
Today we had the pleasure of meeting our newest member of our #PKU family. Because of newborn screening, this infant was identified to due to a high phe level, diagnosed with PKU and was started on treatment within the first week of life. 🏆#2022NBS thx @npkua for the onesie! ❤️
In Missouri, #newbornscreening for #PKU started in 1967, #galactosemia was added in 1985, hemoglobinopathies in 1989, CAH & newborn hearing screening in 2002, expanded NBS in 2005, cystic fibrosis in 2007, and biotinidase in 2008! #2022NBS@HealthyLivingMo
#NewbornScreening Awareness Month is dedicated to raising awareness for the tests that every baby gets - no matter what. Join our Twitter chat on Mon, 9/19 at 2pm ET to discuss the role public health labs play in newborn screening. #ThanksPHLabs#2022NBS
September is #Newbornscreening awareness month. NBS started with the develpment in 1960 of a blood test for #PKU by Dr. Robert Guthrie that could detect the condition shortly after birth and before a child began showing symptoms.
@EmilyFassi @mahicks_ms_cgc This is a common problem for IEM management— clinicians have to ‘fly blind’ until labs are resulted. We have on site lab (#spoiled) but have had great TAT with Mayo, Labcorp and ARUP. You can often call GCs there and get verbal prelims which saves time too!
@DJSchwartzLab @WUSTLmed @WUSTLPeds @WUPedsID @WUSM_MolMicro @WashU_OBGYN Congratulations Drew! Can’t wait to see what you discover before you become an expert in inborn errors! 😉
.@SenatorBurr@CathyMcMorris@PoliticoPro Since specialty formulas now in shortage are life-saving, why do insurance companies deny their coverage for metabolic and GI disorders? It’s time for Congress to ensure access & pass the #MedicalNutritionEquityAct https://t.co/oUtBRKj4ju
.@FrankPallone@PattyMurray@PoliticoPro Since specialty formulas now in shortage are life-saving, why do insurance companies deny their coverage for metabolic and GI disorders? It’s time for Congress to ensure access & pass the #MedicalNutritionEquityAct https://t.co/oUtBRKj4ju
@MedgenW For some patients metabolic formula provides 90% of their daily nutrition And there are no alternatives available from foods. The scarcity of formula is panic inducing to say the least!
@MedgenW This is the reality of rare disease treatment- a single factory closure debilitates the entire supply of life saving formula nationwide for our patients.