Fisher-Price Rollin’ Around Jungle Playground I’m in a down mood right now. We know that Hannah has “abnormal eye movements” with her supranuclear gaze palsy and lack of saccadic eye movements (ability to follow rapid eye movements). But today, I really got to experience how the “lack of ability” (I’m not comfortable with “disability” yet) […]
[Continue reading...]Spread the Word to End the Word
31 Mar by
A personal message from John C. McGinley, actor and father of Max, who lives with Down Syndrome. Hi, I’m John C. McGinley. I’m an ambassador for the National Down Syndrome Society, and today I’m teaming up with Special Olympics to bring you a message that’s important to me. So many times in life you are […]
[Continue reading...]Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease
31 Mar by
Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease Goker-Alpan O, Wiggs EA, Eblan MJ, Benko W, Ziegler SG, Sidransky E, Schiffmann R. Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA. OBJECTIVE: To investigate the spectrum and prevalence of cognitive deficits among children with type 3 (chronic […]
[Continue reading...]Gaucher’s disease type 3 C: Unusual cause of intracardiac calcification
31 Mar by
Gaucher’s disease type III C: Unusual cause of intracardiac calcification Sejal Shah, Amit Misri, Meenakshi Bhat, Sunita Maheshwari Departments of Pediatric Cardiology and Genetics, Narayana Hrudayalaya Institute of Medical Sciences, Bangalore, India ABSTRACT: We report a case of intracardiac calcification associated with oculomotor apraxia and corneal deposits in a 12-year-old girl, who presented with dyspnea […]
[Continue reading...]Come together…right now…over me…
31 Mar by
Yep, I have that song in my head. And if you don’t know what that song is, then you aren’t as old as I am! 🙂 For the past three days, I have been working to find information on various GD23-related items from researchers, doctors, and other interested parties from multiple countries. Even though I […]
[Continue reading...]No results today, I guess.
30 Mar by
Just got this email from Hannah’s genetics doctor’s research coordinator: The general line at (the lab) just told me that the results are not available yet, so I contacted the Genetic Counselor on call and left a message. I’ll let you know as soon as I hear from them. I take it that means no results today… […]
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