09 Apr The Windisch Family’s Experience with SLC13A5 Deficiency
by Nicole Windisch
Our daughter Meredith Grace was born on January 10, 2018. Within 12 hours, while Meredith was in the nursery, a nurse noticed she was losing oxygen. She was immediately taken to the NICU and the doctors determined she was having multiple electrical seizures. For the next several hours, the seizures continued and progressively got worse (turning into tonic clonic seizures). The doctors could not determine what was causing them. Meredith was born at an excellent hospital; however, it was only a level 3 NICU and Meredith needed more testing and care than they could provide.
At 1-day old Meredith was transferred to a level 4 NICU. While there, she had good days and bad. Some days she would seize uncontrollably, causing her oxygen to drop. Other days the medicine would help, and she would be ok. While in the NICU, Meredith endured countless tests and procedures always with negative results. After two weeks, Meredith was stable enough to finally come home. The doctors prescribed a mixture of different medications that were controlling her seizures, but they still did not know why she was suffering through this.
The doctors recommended genetic testing. We began the process before leaving the NICU. After two months, we finally received an answer. Meredith has a rare genetic condition (SLC13A5). As it turns out, my husband and I are both carriers. We tried to research this condition; however, we were unable to find much information due to its rarity. The answer we received only created more questions. There is no definitive treatment path and no definitive understanding of the complications associated with this condition.
Luckily, we found The Tess Foundation, Kim Nye and her family, and other families with children that have this same condition. They have been so helpful in providing us support, information, and answers to our many questions. Without Kim’s efforts, we would not know what is causing Meredith’s seizures or any means of treating them. Thank you for all your hard work! I know one day a cure will be found to help our children!
Meredith is now 15 months old. Her seizures are more controlled, but continue to occur weekly, sometimes more often. She has already been hospitalized four times for up to a week at a time. Unfortunately, Meredith is developmentally delayed, but she works hard through PT and OT and is making progress daily. She is a very happy little girl, full of personality, always smiling, and she lights up every room she enters. She loves to play with her two older brothers, James and Matthew (who don’t have the condition), and our dog Daisy. We want to thank everyone for their support and we know one day there will be a cure to help all the kids defeat this condition.