This is a guest post from Nicole, Greyson’s mom. Greyson lost his battle with Krabbes disease a few months ago at 11 months old. His life could have been saved if the state of Texas screened Greyson at birth for Krabbes. He could have been treated, and he would still be here today if he […]
[Continue reading...]Happy Mom’s Day
10 May by
This Mother’s Day is bittersweet for me. I’m so glad that I will be able to spend it with my hubby and my three children. Hannah is still stable, thank goodness. We will be adding more therapies into her routine due to developmental delays, but she is still a very happy and smiling baby! But […]
[Continue reading...]Ethan M, 23 months old with Gaucher’s type 2
10 May by
This is a guest post from Tina M. from Kansas City, Missouri. She is the mom of Ethan, 23 months old, recently diagnosed with Gaucher’s Type 2. When we found out that we were having a little boy, we were ecstatic. The pregnancy was going great. We had no complications until we hit the seven […]
[Continue reading...]GBA gene (glucosidase, beta; acid)
8 May by
http://ghr.nlm.nih.gov/gene=gba What is the official name of the GBA gene? The official name of this gene is “glucosidase, beta; acid (includes glucosylceramidase).” GBA is the gene’s official symbol. The GBA gene is also known by other names, listed below. What is the normal function of the GBA gene? The GBA gene provides instructions for making […]
[Continue reading...]Another type 2 little girl…
7 May by
I met this mom online just a few weeks ago. Her 7-month-old daughter was just diagnosed with neuronopathic Gaucher’s disease. They weren’t sure of which type, type 2 or type 3. They got the results today — type 2. I haven’t been able to stop thinking about her, her mom, and her two older siblings […]
[Continue reading...]Calcium signaling in neurodegeneration
7 May by
http://www.molecularneurodegeneration.com/content/4/1/20 Calcium is a key signaling ion involved in many different intracellular and extracellular processes ranging from synaptic activity to cell-cell communication and adhesion. The exact definition at the molecular level of the versatility of this ion has made overwhelming progress in the past several years and has been extensively reviewed. In the brain, calcium […]
[Continue reading...]
Latest Comments