Top Tweets for #adh1
For Arielle (and later, her son Sebastian), years of seizures, specialists, and uncertainty would finally lead to genetic testing providing an answer: a diagnosis of autosomal dominant hypocalcemia type 1 (#ADH1). Arielle's strong advocacy for her son in the face of many challenges is all-too-common when navigating rare disease. Thank you to @CNBC Cures for featuring Arielle's #ADH1 story in the latest installment of its ongoing #raredisease coverage. Read more here: https://t.co/qFSznx9pY7
"I'm really healthy all the time except for when I'm not. Then I'm living in the emergency room for several hours to days." Arielle lives with #ADH1. This is what that looks like.
🎧 Full episode of #OnRarePodcast here: https://t.co/IO2NnXts9f
On #WorldHypoparaDay, we stand with families managing life with #ADH1, a common genetic form of #hypoparathyroidism. Emma has lived with ADH1 since infancy. Twelve doses of medication a day through the night, at school, every day. How does she manage? "You do what you got to do." Her resilience deserves better. Earlier diagnosis. Real answers. Today, we raise awareness and stand with the community.
Some people with abnormal calcium levels may not realize their symptoms, like tingling, fatigue, or brain fog, are linked to a genetic hypoparathyroidism condition called #ADH1. A cheek swab for genetic testing takes seconds and can help families better understand their health and the health of future generations. Hear from families who came together with the @HypoPARAassoc to learn more with a simple cheek swab test: https://t.co/SiZJP19NgA
Highlighting the potential of PTH1R receptor agonist therapy in autosomal dominant hypocalcemia type 1
https://t.co/Nq1pIWB7Cg
In this Research Letter, Rajesh V. Thakker & team @UniofOxford report on the use of Eneboparatide in mice with #ADH1, which increased serum #calcium levels without increasing urine calcium.
@OCDEM
“My calcium levels were so low my body was in shock.” — Jessica, diagnosed at birth with #ADH1 Her story is a powerful reminder of how urgent and serious calcium regulation can be.
🎥 Full video: https://t.co/UBpIsrzDDw
Meet Julien. His newborn symptoms were dismissed as “just newborn things,” but his parents kept pushing. A seizure-like episode at 6 weeks and 16 clinical evaluations later, genetic testing identified a CASR variant, confirming #ADH1. Today he’s five, curious and full of life. Awareness leads to understanding and appropriate care. 💙
Mary, her son, and her granddaughter – that’s three generations diagnosed with #ADH1.
Genetic testing may help families get answers and reduce the uncertainty that can come with a long diagnostic journey.
💙Follow along for the next chapter of Mary’s story or learn more about ADH1 at https://t.co/qdphik9ngd #LifeWithADH1
“Late diagnosis is harder because a lot of the damage is already done.”
Early recognition of #ADH1 matters.
Follow along to hear more of Mary’s story or learn more: https://t.co/xyQVdESwNd #LifeWithADH1
Genetic testing for #ADH1 can help validate lived experiences, clarify family risk, & reduce the risk of misdiagnoses.
Learn more about ADH1 at https://t.co/xyQVdET4CL
.@BridgeBioPharma wows again, this time in genetic #hypoparathyroidism (free w/one-time registration)
https://t.co/Bs2YITtZDm #biopharma #ADH1
We’re thrilled to share our positive topline Phase 3 data from CALIBRATE, our study of an oral therapy, encaleret, in development for individuals living with #ADH1. Read more: https://t.co/Iqeb47iPPZ $BBIO
Sydney is a high school student, loves playing tennis and was diagnosed with #ADH1, or autosomal dominant hypocalcemia type 1, at 3 months of age.
She’s faced multiple symptoms because of ADH1 from muscle spasms, brain fog, fatigue, tetany, anxiety, and even a seizure at 8. Managing it all has meant 500+ blood draws and many specialist visits. What keeps her going: family, friends, and therapy cats Dash & Milo.
Sydney dreams of studying speech pathology and a virtual support group for teens with ADH1 – because no one should feel alone.
Help us share Sydney’s story. 💙 #LifeWithADH1
#ADH1 is a common genetic form of #hypoparathyroidism caused by changes in the CASR gene, with signs and symptoms that may include muscle cramps, seizures, fatigue, and kidney issues. Learn more: https://t.co/zmJVWuYlUr
🦋 On #WorldHypoparaDay, we’re advocating for better diagnosis & treatment for #hypoparathyroidism, especially for those with #ADH1.
We stand with this resilient community & encourage connection, support, and awareness.
No-cost genetic testing👉https://t.co/05pAAsTXQN
Accurate diagnosis of genetic hypopara can help inform patient monitoring needs & may improve prognosis. We’ve partnered w/ @BridgeBioPharma to offer sponsored genetic testing & counseling for eligible patients: https://t.co/iLRamKH6nv
#hypoparathyroidism #hypopara #adh1 #endo
🧬 By activating a specific gene, adh-1, the researchers induced the production of an enzyme that mitigates the toxicity caused by glycerol and glyceraldehyde.
Consequently, the worms exhibited longer, healthier lives, signifying the potential of this approach. (6/10)
#adh1 #AntiAging #Lifespan
Ayy Birmingham are you ready?! 9th February with @jazzyb #adh1 @deejay_aza @djharpz #LFG @Officialdjnish #signaturedrummers
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