Jaeden's Journey of Diagnosis

Jaeden was born in March 2009. He was a healthy baby boy with no initial issues, even scored an APGAR score of 7 when he was born.  At three months of age, Jaeden started to present with irritability, lack of eating and lack of weight gain,  inability to hold his head up (his head would always lean to one side-what I thought was torticollis) and poor central tone-hypotonia. As the months progressed, Jaeden’s developmental delays were becoming apparent, and we knew something wasn’t right.

The Cost-Effectiveness of Genetic Testing for Neonatal Diabetes

Neonatal diabetes mellitus is a rare form of diabetes, occurring in about 1 out of every 100,000 live births. It can be transient, eventually disappearing on its own, or permanent, potentially causing health complications throughout a child’s life. Until recently, most babies with permanent neonatal diabetes mellitus were misdiagnosed with type 1 diabetes – the form of diabetes that usually appears in childhood.

Kabuki Hour at ACMG Conference

Friday, March 18, 2011  11am-noon

Vancouver Convention Center Exhibit Hall Booth #315

Meet with Kabuki syndrome experts and learn about our experience with MLL2 sequencing.

Featuring

Helga Toriello, Ph.D., FACMG Medical Geneticist, Spectrum Health, Grand Rapids, MI

Louanne Hudgins, M.D., FAAP, FACMG Chief, Division of Genetics, Stanford University, Stanford, CA

Members of the University of Chicago Genetic Services laboratory

FOXG1 Syndrome: More than a congenital variant of Rett Syndrome?

Rachelle Lorenz¹, Amy Goldstein², Sulagna Saitta³, Laurence E. Walsh4, Soma Das¹, William B Dobyns5. ¹Department of Human Genetics, University of Chicago, Chicago, IL, USA.  2Division of Child Neurology, Children’s Hospital of Pittsburgh, Pittsburgh, PA, USA.  3Children’s Hospital of Philadelphia, Philadelphia, PA, USA.  4Department of Medical Genetics, Indiana University, Indianapolis, IN, USA. 5Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA.