Teos journey with NKH and Gene Therapy

My son Teoman Sayin (Teo) was born on the 27th September 2022. After a very healthy pregnancy Teo was born at 41 weeks. Teo didn’t cry at birth or open his eyes and grew more lethargic as the day went on. He wouldn’t wake to feed and was incredibly sleepy. At first we were told this was normal in the first 24hours so we weren’t too concerned. As day two arrived we noticed no change and by day three I requested further investigation. And this is where our rollercoaster journey began.

Teo was rushed to Neonatal Intensive Care Unit (NICU) and put in an incubator. He was completely unresponsive and hooked up to a respirator and numerous other life-saving devices while investigations began. Our beautiful baby boy was tiny and seemed lifeless. By day 9 - diagnosis day, our world changed forever. Teo was diagnosed with NKH. Non-ketotic hyperglycinemia (NKH) a rare, genetic, metabolic disorder caused by a defect in the enzyme system that breaks down the amino acid glycine, resulting in an accumulation of glycine in the body’s tissues and fluids. NKH causes multiple complications including severe delays in development and mobility function. Epilepsy and seizures are also one of the most common symptoms which causes major damage to the brain and organs throughout the body. It’s a traumatic illness for everyone involved. It’s so heartbreaking and you feel helpless as a parent to watch your child suffer everyday. NKH occurs due to genetic mutation, in our case, a GLDC deletion. Currently there is no cure and medications come with a whole host of side effects. Teo is now on 6 different medications around the clock. While there is no cure for NKH at the moment, there is research being undertaken that is incredibly close to a breakthrough in gene therapy. The development of gene therapy for NKH would save countless lives and improve the quality of life for babies, children and their families across the world. Without gene therapy Teo is unlikely to reach many milestones, such as holding up his head, sitting, rolling over or walking and life expectancy is short. Unfortunately the rarity of the condition means funding is limited. Nearly all funding for gene therapy comes from private sources such as the families.

We are so close to finding a lifesaving cure through gene therapy for NKH. Please donate what you can to help Teo and babies like him across the world to live happier, healthier longer lives. No donation is too small. Please help us share awareness for NKH and raise funds towards research for gene therapy so we can save our babies. My son is my entire world and any parent would tell you the same, I would do anything for him and I dedicate my life to helping him. Our journey is not the journey we expected, I pray for so much more for him. As a family we have so much faith in our strong little boy. But he needs this help. He needs gene therapy to enable him further development and the opportunity to live a longer fuller life. Please join us in this journey to reaching gene therapy.