The CdLS Blog
Lawmakers Look To Jump-Start Employment For Transition-Age Youth
by Shaun Heasley | June 12, 2019 With a bipartisan proposal, members of Congress are pushing a new plan to increase competitive, integrated employment for young people with developmental disabilities. A bill introduced in the U.S. House of Representatives this month...
read moreSmall, but mighty: Child handles rare syndrome head-on
LEWISTOWN — Marckis Mountz is a sweet and bubbly 4, soon to be 5-year-old little boy whose smile lights up the room. He lives in Lewistown with his parents, Jana and Ken Mountz. He is the youngest of seven children; two remain at home with him and four are adults. He...
read moreHow on-campus retail jobs help students with disabilities
Deep within a labyrinth of offices at Wright Junior High School, eighth-grader Mikayla Needlman gently knocks on Lincolnshire-Prairie View School District 103 Superintendent Scott Warren's door. Warren quickly opens up and smiles at his young visitor. Mikayla is one...
read moreCaring for Luke: Portsmouth family raises CdLS awareness
By Karen Dandurant news@seacoastonline.com PORTSMOUTH -- May 11 is awareness day for Cornelia de Lange syndrome, a rare genetic disorder. The Lyons family of Portsmouth knows all about it. Their son Luke, now 11, was born with CdLS, which has variations from mild to...
read moreNew Blood Test May Help Diagnose Prader-Willi Syndrome, Other Complex Disorders
A new blood test called EpiSign may help identify complex and hard-to-diagnose genomic imprinting disorders such as Prader-Willi syndrome (PWS). EpiSign, available in two versions, can diagnose 19 complex disorders. This newly available diagnostic tool, which...
read more‘I heard 3 things when he was finally out: ‘He’s here, he’s breathing, and he has a TON of hair!’ What a joyful moment. I say moment – because the joy only lasted that long.’
“We had waited 10 weeks to see our beautiful baby on the ultrasound screen again. Do to an insurance issue preventing us from getting any scans between 20 and 30 weeks, naturally my anxiety was overwhelmingly high that morning of our 30-week scan, the morning our...
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A message on Rare Disease Day
Dear CdLS Community, On this day - February 28th - the rarest day of the year, we take a moment from our daily lives to bring awareness about our community and what it means to live with a rare syndrome or disease. I had the opportunity yesterday to listen to a panel...
read more2019 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...
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