In all honesty, I never planned on doing any prenatal testing. At 30, I was not of "advanced maternal age," had no pre-existing conditions, and I’d already done the blood work that ruled out being…a Tay-Sachs carrier. Still, my husband and I listened as my OB explained what was out there at our first prenatal appointment and stuffed the pamphlets in my purse, thinking this was something “other” people do. After we talked, he went about the exam and then at the end came the part I’d been waiting… >> Read More
This post is sponsored by the National Gaucher Foundation and originally appeared on the National Gaucher Foundation Community Blog.
The Garay family has three children: Diego, 9, Sienna,…5, and Annika, 3. Annika was diagnosed with Gaucher disease six months ago, and Diego was diagnosed shortly after that. Their mother, Ana, shares the impact this diagnosis has had on their family. What were the events leading up to your children’s diagnosis? In January of 2015, Annika (1 year old at the time) was at a doctor… >> Read More
Growing up in Atlanta, I had the privilege to live down the street from a couple named Randy and Caroline Gold. I was only a small child, but remember when they moved into their white picket fenced…house, gave birth to their son, Natanel, and a few years later, had their daughter, Eden. Whether I was walking by their house on Shabbat, being a summer camp counselor to Natanel, or bringing them mishloach manot on Purim, needless to say, I saw them a lot. As the years passed and I grew older,… >> Read More
This morning I watched proudly as my 19-year-old daughter signed the credit card receipt for her haircut. It might sound strange to hear that paying for her own beauty regimen is noteworthy, but you…see, she wasn’t even supposed to live this long. My husband and I were your typical, idealistic, young modern Orthodox couple and couldn’t wait to start a family. On a Friday night in March, our dreams to start a family came true. Our beautiful daughter Simi was born at 11:30 p.m., and we were in… >> Read More
My second child is 17 and has a Jewish genetic disease called Familial Dysautonomia. He is a sweet, happy young man who is typical in many ways yet with physical and cognitive limitations. When he…turned 16, my father reminded me to say a prayer, expressing gratitude for having raised him to that point in time. I was thankful that he was happy, loved, and that he walks and talks. It was, however, bittersweet. Oddly enough, I was most sad that he was not on his way to driving a car—the highlight of turning 16 for most teenagers… >> Read More