NICE finalises support for CSL's HAE therapy Andembry CSL Behring's Andembry can be used to prevent recurrent attacks of HAE by the NHS, following finalised guidance from reimbursement authority NICE

#NICE #CSL #HAEtherapy #Andembry #garadacimab #PharmaNews #CSLBehring #hereditaryangioedema #HAE #NHS #NICEguidance #NICETAG #FactorXIIainhibitor #HAEpatients #raregeneticdisorder #MHRA #VANGUARDstudy #HAEattacks #HAEUK #AngelaMetcalfe #HAEprevention #EduardoCabas
pharmaphorum.com/news/nice-fi...

Cystinosis is a #RareGeneticDisorder where cystine builds up in cells, damaging organs like kidneys, eyes, and more. Did you know it’s the top inherited cause of Fanconi syndrome in kids? (Orphanet Journal of Rare Diseases, 🔗 in bio) 

We call this Oilver's "bum kidneys"💡Comment to #ShareYourRare

Potocki-Lupski Syndrome Awareness Day / March 8, 2025 Potocki-Lupski Syndrome Awareness Day is observed annually on March 8 to raise awareness of a rare genetic disorder that causes intellectual disability

These will be some of the #children hurt by the #Trump administrations #callousness. #PTLS #Potocki-LupskiSyndrome #WorldAwarness day #March8,2025 #RareGeneticDisorder
My daughter was born with PTLS, please help to #SpreadtheWord about this condition.
anydayguide.com/calendar/6258

Potocki-Lupski Syndrome Awareness Day / March 8, 2025 Potocki-Lupski Syndrome Awareness Day is observed annually on March 8 to raise awareness of a rare genetic disorder that causes intellectual disability

These will be some of the #children hurt by the #Trump administration. #PTLS #Potocki-LupskiSyndrome #WorldAwarness day #March8,2025 #RareGeneticDisorder
My daughter was born with PTLS, please help to spread the word about this condition.
anydayguide.com/calendar/6258

An Atypical Story Three years ago, we learned that my youngest daughter Isla is autistic.

3 years ago, we learned our child is #autistic. This year, we learned she actually has a #raregeneticdisorder & as a result, is Autistic, has #ADHD, a high chance of #seizures, etc. Here's our story.

theatypicaladvocate.substack.com/p/an-atypica...

#neurodiversity #autism #neurodivergent #atypical