RayAh

Our journey and how it began. May 11, 2018, at 5:00 am started as the most exciting day of my family's life. This was the day we were eager to meet the newest addition to our family, RayAh Young. After 9 months of healthy prenatal care, and great sonograms, we knew that our bundle of joy was going to be breathtaking. It wasn't easy being 40 and pregnant but after 12 hours of labor and learning that I would have to have an emergency c-section, our precious baby girl soon arrived. Looking at the excitement in my husband and children's eyes and the joy in my mother and god father's face was amazing. RayAh Young was finally here.

However, day 2 of RayAh's arrival sparked concerned for my husband and myself. RayAh stopped breathing in my husband's arms. The nurse was in the room and she rushed her to the NICU. Nervous and not being able to see what was going on was overwhelming, but they brought RayAh back and she was okay. Nevertheless, as a mother, you have thoughts and feelings no one else has when it comes to your children. Deep inside, I knew something was wrong.

My motherly intuition was not wrong. After many days, weeks, and even months in and out of the hospital with my precious baby girl, we learned, she has a rare genetic disorder GRIN2B. GRIN2B is not the name of the disease or disorder, but is the name of the gene located on the 12th chromosome. Its function is to encode a protein that forms a receptor responsible for sending chemical messages to the brain. A variation on the GRIN2B gene means that some portion of this specific genetic code either got deleted, duplicated, or rearranged. As of 2018, changes to the Grin2B gene are now being referred to as a GRIN2B- related Neurodevelopmental Disorder. GRIN2B variation occurs randomly and spontaneously at or shortly after conception.

The reason for these genetic changes is unknown. Some of the characteristics of a child with GRIN2B or other GRIN variants are DD/ID (developmental delaysand intellectual disability), Feeding issues (G-tube feed), Epilepsy, and cortical blindness. My family has traveled to other states in search of answers and information that would help us better understand RayAh’s condition so that we can make sure she receives the best care for a more productive life. What can you do to help? Join forces with my family and other families across this nation to bring awareness to our local, state, and government officials. We have hope and we are grateful for your support in our journey to a cure  for GRIN Disorders.