The CdLS Blog
2019 Awareness Day T-shirt Contest
Each year on the second Saturday of May, CdLS Awareness Day is celebrated nationwide. The goal of Awareness Day is to raise awareness of CdLS through passionate volunteers and inspire people to learn about the Foundation. This year the CdLS Foundation will be holding...
read moreCornelia de Lange syndrome: What every otolaryngologist should know
LCDR Michael J. Eliason, MD, USN; LCDR Jonathan M. Melzer, MD, USN; CDR Thomas Q. Gallagher, DO, USN Abstract Cornelia de Lange Syndrome (CdLS) can be expressed in multiple organ systems requiring a variety of specialists, including pediatric otolaryngology. We...
read more‘Expect problems,’ she told us. I had heard those words before, yet my brain couldn’t make sense of them. ‘What kind of problems?,’ I asked, my voice trembling.’
“Tension filled the silent labor and delivery room. Much like the oppressive humidity of a hot summer day, the air was thick with fear. I sat up in bed, my back supported by pillows. I was surrounded by five doctors, a nurse, Steve, and my twin sister, all of whom...
read moreAI face-scanning app spots signs of rare genetic disorders Deep-learning algorithm helps to diagnose conditions that aren’t readily apparent to doctors or researchers.
A deep-learning algorithm is helping doctors and researchers to pinpoint a range of rare genetic disorders by analysing pictures of people’s faces. In a paper1 published on 7 January in Nature Medicine, researchers describe the technology behind the diagnostic aid, a...
read moreCornelia de Lange syndrome in diverse populations
Leah Dowsett Antonio R. Porras Paul Kruszka Brandon Davis Tommy Hu Engela Honey Eben Badoe Meow‐Keong Thong Eyby Leon Katta M. Girisha Anju Shukla Shalini S. Nayak Vorasuk Shotelersuk Andre Megarbane Shubha Phadke Nirmala D. Sirisena Vajira H. W. Dissanayake Carlos R....
read moreMinute Man Arc client graduates from self-advocacy program
The following is from a submission by Stephanie Parish, Minute Man Arc. Valerie Lessa, of Concord, graduated from an eight-week Self-Advocacy Leadership Series at Bridgewater State University on Sept. 5. [Courtesy Photo] On Sept. 5, Valerie Lessa, a Minute Man Arc...
read moreHow to Plan Finances to Raise a Special-Needs Child
By Paul SullivanThe New York Times (https://nyti.ms/2RanViN) Carole and Michael Maguire were careful to plan early for the financial needs of their daughter Ally, who is now 19 and attends the Riverview School on Cape Cod, Mass.Credit Credit Kieran Kesner for The New...
read moreMothers of Children with Rare Genetic Syndromes Experience Stress Similar to Moms of Autistic Kids, Study Finds
https://angelmansyndromenews.com/2018/12/14/mother-of-children-with-angelman-syndrome-experience-high-levels-of-stress-similar-to-mothers-of-children-with-autism/
read moreMy Experience Attending the 2018 ASHA Convention
Michele Champion, M.Ed., Special Education, CdLS Foundation Professional Development Committee I recently had the opportunity to attend an ASHA (American Speech-Language-Hearing Association) Convention in Boston. ASHA is the national association for members and...
read moreFDA Safety and Innovation Act: A Step Forward for Patients With Rare Diseases – NORD
Here is an interesting article on rare disease patients and families, written by By Peter L. Saltonstall, President and CEO of National Organization for Rare Disorders (NORD) about developments around the FDA Safety and Innovation Act. Here is a short excerpt for a...
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