No-Cost Genetic Testing

Probably Genetic is a group of geneticists, engineers, and patients seeking to help people with rare diseases access genetic testing. The company has recently launched a no-cost genetic testing program for people with seizures, movement disorders and/or developmental delay. Eligible individuals can receive whole exome sequencing at no cost. This testing analyzes all of the protein-coding regions of your DNA for disease- causing mutations.

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A Rare Soirée

Looking for a new fundraiser idea? Effie Parks, CTNNB1 Connect & Cure board member and mom to CTNNB1 son Ford, had a great – and successful – idea for this year's Rare Disease Day. She joined forces with her good friend and fellow Rare mom, Jill Hawkins, to host a “Rare Soiree,” an auction and cocktail…

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Meet Isaac

Isaac is 7 years old and currently in year 3 at school in the UK. Isaac is the most determined child I have ever met, always pushing himself to do more and try again. He has the most infectious laugh and personality and is so cheeky! He currently walks inside short distances unaided but struggles with…

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Meet Mae

Hi, I’m Mae and I am 2 years old. I am the big sister to Louise who just turned 1. My mommy and daddy’s names are Emily and Joe, we all live in Minnesota. I’ve made huge strides this past year that include: crawling, pulling to stand, playing with kids despite my sensory sensitivities and I’ve…

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Meet Guillaume

Guillaume is almost 3 and a half, and is a very happy and friendly little boy. He started to walk independently and to talk about 6 months ago, but still struggles with climbing, running, and manual dexterity. He loves to sing and play with bubbles, mud, and water. He's started to show an incredible memory and…

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Meet Glen

Glen is a 17 year old young man and a 10th grader in high school in Wyoming (USA). He LOVES Scooby-Doo, Frozen. Encanto, Power Rangers, Loud House (watching shows/movies or playing/wearing the characters). He is VERY social and loves seeing people he knows. He also loves swimming and riding horses. Hippotherapy is what finally got him…

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Geisinger study supports genetic testing for individuals with cerebral palsy

Meta-analysis shows similar genetic diagnostic yield for cerebral palsy and other neurodevelopmental disorders. Thirteen studies published between 2013 and 2022, comprising 2,612 people, all related to CP and genetic testing, were evaluated by the Geisinger research team. Read more at https://www.eurekalert.org/news-releases/981810?fbclid=IwAR3DQVYNnL03XsTjFVPCfgnH-UtaT93oLIo_UE2YO1ck70IJRj3nZIts3tw.

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Meet Vinaya
Vinaya from Louisiana, USA

Meet Vinaya

Vinaya is 6 years old and is currently in 1st grade. She LOVES to dance and play with her finger puppets. Vinaya also really loves to give hugs and affection which we absolutely adore! She watches many videos in different languages (so cool!) and her tablet is her go to for “down time”. Vinaya has mono-alleic…

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Meet Preston

Preston is 12 years old and is in 6th grade, his first year of middle school! He attends a local public school in the special ed/life skills program, and is a part of his school’s band- playing percussion. He also participates in a weekly bowling league and plays Challenger League baseball in the spring and summer.…

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