by Francesca Scognamiglio | Apr 29, 2019 | In Memoriam
Meredith had a variant on the SMC1A gene which brought us into the CdLS family. The light she was in our lives is indescribable and we are so amazingly lucky to be her parents and to have had her with us for the time that we did. She taught us a lot and gave everyone...
by Gabbie Nadeau | Apr 25, 2019 | Uncategorized
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...
by Francesca Scognamiglio | Apr 22, 2019 | In Memoriam
Dustin Jay blessed our lives for 24 beautiful years. The name Dustin means “Valiant Fighter”, and he was definitely that. He was a fighter for the day he came into this world. He was born on December 2, 1993 weighing in at 3 lbs. 9 oz., and we had him home...
by Gabbie Nadeau | Apr 16, 2019 | Research News
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...
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