EGL Genetics Blog

My Beautiful CHILD Spotlight on Gaucher Disease

Posted by Eleina Cox on Nov 10, 2016 11:11:00 AM

This month's guest blogger, Shea, shares a personal story about her youngest son, Lathan, whose health suddenly declined due to unknown circumstances. By sharing her story, Shea hopes to enlighten parents and others to always pay close attention and listen to health complaints made by children.  

My son Lathan has always been a special child. He is highly intelligent for a seven year-old, loves to play soccer and basketball, and is always full of energy. Over the years, he has always had what many doctors refer to as ‘toddler belly.’ As such, my husband and I never really thought it was cause for concern. One evening, Lathan refused to eat. He insisted that he was full after having only had a few bites. Stepping into the mean mommy role, I told him to eat or we would pay his pediatrician a visit. Normally this threat would serve to achieve the desired result, but not this time. He looked me straight in the eyes and said, “Mommy, I can’t eat.” In true, mean mommy fashion, I sent him to bed and took him immediately to the pediatrician the next day.

What we found was horrifying and began a lengthy search for the cause…his spleen was enlarged.

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Topics: Gaucher disease

October is Gaucher Disease Awareness Month!

Posted by Derek Stevens on Oct 13, 2016 11:00:00 AM

October is designated as Gaucher Disease Awareness Month and to increase awareness, we invited guest blogger, Dawn Laney, the founder and CEO of and a certified clinical genetic counselor, to share important information about this metabolic disorder. As you read her contribution, we hope you learn helpful information about Gaucher disease and where to find invaluable resources.

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Topics: awareness, Gaucher disease, rare disease



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