Stephanie Telesca
@sn_telesca
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she/her | mama to a rare warrior 💪🏼🦄 MSH prenatal genetic counsellor #curekcnc1 @KCNC1foundation views are my own
Toronto, Ontario
Joined October 2013
My daughter is suffering. Lets find her a cure: Click to Donate: https://t.co/eYS3RHlAk0
#GoFundMe
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Praise the Lord! A little less, "let's wait and see," "all kids are different," "they'll grow out of it." Exome or genome testing is recommended as first tier tests for global development delay or intellectual disability when no specific dx is suspected. Genetic testing is
publications.aap.org
Establishing a genetic diagnosis provides multiple benefits for the patient and family, including improvements in patient care and determination of recurrence risk.
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Maternity leave.
Can you think of a Canadian product that’s better than an American one? Honestly curious.
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A fear most parents of children with disabilities have - adulthood. This isn’t a surprise and im glad mainstream media is picking up on what our families have known all along
Turning 18 should be a celebration, but for youth with disabilities, it signals “aging out” of the paediatric health care system. Learn why the transition to adult health care is #NoPieceOfCake in Holland Bloorview’s new report.
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Ah thank you @eperlste for acknowledging the strength parents have navigating rare disease and supporting us through our #cureodyssey
The arc of a rare disease parent is like a Marvel superhero who was just living a normie anonymous life and then one day genetic lightning struck, revealing a superpower they never knew was inside them the whole time.
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Join us on September 8 for a fun filled Sunday at Field Notes flower farm in Sunderland, ON. Proceeds support research for KCNC1 treatments. Get your tickets today! https://t.co/cbMr2D7SJQ
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What is the Impact of having a Child with a developmental epileptic encephalopathy in a family?🔍 In this new paper of our group in collaboration with @urjc we try to address this topic in: ➡️#Dravet ➡️#CDKL5 ➡️#PCDH19 ➡️#KCNQ2 ➡️#GNAO1
link.springer.com
European Journal of Pediatrics - Developmental and epileptic encephalopathies (DEEs) cause disability and dependence affecting both children and the family. The aim of the study was to describe the...
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Another nomination for @queensureview in Best Feature Article: Professional! "Twist of Fate" by @carlyweeks is the remarkable story of genetic counsellor @sn_telesca. Great work on this story! #NMAB2B24
https://t.co/4QtX5kAQVJ
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Thankful @carlyweeks for sharing our story - we are only one of many.
Families step up to find gene therapies for diseases too rare for research firms
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🎉 Fantastic news for Phelan-McDermid: Jaguar Gene Therapy announces the first clinical trial with a gene therapy for this syndrome, starting later this year in adult patients. Great news for the neurodevelopmental field and for the #SHANK3 families 🙌 https://t.co/5cAAHQlOik
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Two inspiring days at the #NorEpiNet2024 course (from genes to treatment) in Stockholm 🇸🇪 Genetic variant interpretation is not trivial❗ Multidisciplinary discussions between clinicians & geneticists are therefore crucial as we enter the era of #PrecisionMedicine❗ #Epilepsy
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Dr Emil Kakkis (@ultragenyx) is calling for an Ultra-Orphan Act for the 1% of rare genetic diseases that affect fewer than 2,000 patients in the US. That tiny 1% actually covers over half of the 10,000+ known rare diseases. I stand with Emil 100%. The crux of the legislation
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It’s so cool to hit the same drugs again and again for diseases in the same pathway. It’s almost as if biology is real and conserved.
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Why bother with finding genetic causes of cerebral palsy? In 1,841 individuals in published CP cohorts, 8% had a genetic diagnosis classified as actionable --> as prompting a change in clinical management based on knowledge related to the genetic etiology https://t.co/c4UYVpZcD3
medrxiv.org
Background and objectives Single gene mutations are increasingly recognized as causes of cerebral palsy (CP) phenotypes, yet there is currently no standardized framework for measuring their clinical...
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Stoke presents data from ongoing clinical studies of STK-001 for the treatment of Dravet syndrome at the 35th International Epilepsy Congress. Learn more here: https://t.co/N9h6FyMJ5d
@IlaeWeb #IEC2023 #ILAE
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A simple and easy way to make a huge impact for those with a #RareDisease in Canada. Families are fighting hard enough day to day; help them get ahead by signing this important petition to see more support from government!
Canadian #RareDisease community! Please sign if you have not done so already. This petition will help push forward legislation for the #NationalStrategyForDrugsForRareDiseases. This is incredibly important to secure funding for drug affordability and research. #RareDiseaseTruth
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September 9 - Join us for our second annual Field Notes Flower fundraiser, A Family Field Day. We have some exciting vendors and food trucks joining us and several exciting door prizes to give away! #cureKCNC1 #torontoevents @CP24Breakfast @RegionofDurham @blogTO @nowtoronto
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Good news for #Dravet! 👏 👏 Making progress for true disease-modifying therapy… -substantial #seizure reduction, particularly among the highest dose (70mg) group -non-seizure improvements in speech, behavior, cognition not seen with other therapies -well tolerated I’ll be
Stoke announces positive new data from patients treated with STK-001 in ongoing Phase 1/2a MONARCH and ADMIRAL studies and the SWALLOWTAIL open-label extension study in children and adolescents with Dravet syndrome. Learn more here: https://t.co/mQWpbFG5oS
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For some children with unexplained epilepsy, exome sequencing can help with precise diagnoses with direct clinical implications.
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