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. His platelets were abnormally low. We were terrified. After numerous blood panels and negative lab results for a myriad of cancers and diseases, we were referred to the cancer and blood disorder center in Atlanta. Dr. Maryanne Yee ordered a bone marrow biopsy to see if his platelets were behaving the same way in his marrow as they were in his spleen. Before we made the two hour trek home from the procedure, Dr. Yee called and felt confident she knew what Lathan had…Gaucher Disease. We were overjoyed after months of testing and bloodwork, we had a name for it!

Shortly thereafter, I received a call from the Emory Genetics Laboratory in Atlanta. We scheduled an appointment and met with a lovely woman, Val Long, who explained very clearly what Gaucher Disease was, what the treatment looked like, and what we could hope to expect in the future. This was the first time in months that I was not afraid that I was going to lose my precious child. Dr. William Wilcox explained that after several treatments, the disease would stop progressing.

Because Gaucher Disease is so rare, it is often overlooked and in our case was mistaken for a myriad of cancers, blood disorders, and other frightening diseases that no parent wants to speak of. With the love and support we have received from Emory Genetics, our family able to embrace this disease without fear. Pay attention to the signs parents…swollen belly, nosebleeds, low platelet count, fatigue, and bone pain, just to name a few. More information can be found at Our family has very quickly realized the importance of genetic testing and not only for ourselves, but for countless others who have gone undiagnosed. God bless you all, and thank you for providing the opportunity to share our journey.


Lathan is pictured here with his mother, Shea, his father, Greg, and older brother Graeson (in the glasses)



Topics: Gaucher disease



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