Lucas and Isla need your help to raise money for gene therapy. They were both diagnosed with a very rare genetic condition called NKH (Non-ketotic hyperglycinemia). Gene therapy treatments cost 3-5 million dollars. The rarer a condition the less funding is made available. There are approximately 500 children worldwide with this condition.
We are on a mission to raise 3 million dollars to further research for gene therapy options globally for GLDC and AMT gene mutations.
I am raising money for my grandson Lucas. I am asking for your help to raise awareness and the much-needed funds for gene therapy. Our first goal is to raise 3 million dollars to help with this research.
Lucas was born on March 6th, 2018 He arrived after a healthy pregnancy and delivery, but after his first 24 hrs of life, it was apparent something was not right. He was very sleepy and had not cried since his birth. The doctors said everything looked fine with him and they were going to discharge him home, but thankfully we had a very perceptive nurse who felt something was wrong. With our permission, she requested a third pediatrician to do an assessment who saw a tremor he thought could be seizure activity. After two hospital transfers and many tests later, Lucas was admitted to the NICU at Phoenix Children’s Hospital. There he was diagnosed with a very rare genetic disorder called (NKH).
As with many orphaned diseases, the families are left to try and raise money on their own. There is currently no cure for (NKH) but many researchers believe they can cure (NKH, Non-ketotic hyperglycinemia) with gene replacement therapy. The technology of Gene replacement is possible, but as with many orphaned diseases, the lack of funding is making research slow.
NKH is caused by a genetic variant (mutations) in the genes. The odds of contracting NKH is predicted to be approximately 1 in 76,000 babies, and NKH can occur in any child of any ancestry. There are approximately 500 children with NKH worldwide. NKH requires multiple anti-seizure medications to attempt to control seizures. Many of these babies are taking Sodium Benzoate every 4 hours around the clock to keep serum glycine levels lowered. The high glycine levels in the brain cannot be lowered and cause the seizures, some children experience 100+ a day. This is where gene replacement will help cure our babies. Currently, NKH requires approximately 20 syringes of medications given all day around the clock.
Lucas was never supposed to leave the NICU at Phoenix Children’s Hospital, In fact, the geneticist at PCH said she was 100% sure he would not survive. But he proved them all wrong, and with God’s help, he has been doing so ever since.
Universities around the world are researching NKH therapies, medications, gene replacement, and other treatment options.
Nicholas Greene, Ph.D., Professor of Developmental Neurobiology, ICH Developmental Biology & Cancer Programme, UCL GOS Institute of Child Health
The University of Notre Dame, Boler-Parseghian Center for Rare and Neglected Diseases
Dr. Johan Van Hove, MD, Ph.D., Professor of Pediatrics, Clinical Genetics, Biochemical Genetics, Children's Hospital Colorado
Kalipada Pahan, Ph.D., Professor of Neurology Professor, Department of Neurological Sciences, Rush Medical College
I'm raising money to benefit the nonprofit Lucas John Foundation, and any donation will help make an impact. Thanks in advance for your contribution to this cause that means so much to me.
More information about Lucas John Foundation: Our Mission is to acknowledge and provide support for families encountering unimaginable medical issues. Our foundation focuses on raising money for research for gene therapy and supporting families in the NICU.
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