Incoming, I’m doing the London Landmarks Half Marathon to raise money for The Mikaere Foundation.

I just want a cure for my son and all kids with NKH. If you don’t already know, hi, I’m Emma, and my son Mason has a rare genetic condition, NKH (non-ketotic hyperglycinemia). We are sooo close to a cure, but the only thing standing in the way is money. A LOT of money. I want Mason to stay alive long enough to receive gene therapy and live a long, fulfilling life.

NKH usually affects infants and children, appearing shortly after birth. It is a genetic disorder and is inherited from both parents which prevents their bodies from processing glycine.

Glycine (amongst other things) is a neurotransmitter – sending signals in the brain and around the central nervous system (especially in the brainstem and spine). It has several functions involved in the processing of motor and sensory information (such as movement and vision).

Mason never went past the newborn stage of development. He has daily seizures ranging from 5 to 15 times a day, scoliosis, dislocated hips, unable to sit up or grab items. He is fully peg-fed nil by mouth, he has recurrent chest infections, He retains urine and struggles with bowel movements. He has a sats machine, a suction machine, a nebuliser, a feeding pump and is a full-time wheelchair user. He can also mainly only see lights and is registered blind, and has what feels like endless medications.

With all that going on, he still finds so much joy in life. He enjoys sensory lights, stories, being by the water, and loves hearing his brother. His favourite places are his hospice and going to school when well. Sometimes I feel like an imposter explaining to people that he wasn’t supposed to live, that his life is still very unknown, and he is just about to turn 6. But I would rather feel like an imposter than not have Mason in our lives. I want a cure, I want my son to live the best life he possibly can, and I want his brother not to have to go through the trauma of losing his sibling.

Now I hate walking, but here I go again. I am doing another half-marathon; my hips will hate me, but I will do anything to raise money to fund a cure for NKH. I’m not doing it alone; I have family and friends also doing it. I’m grateful for the support we have around us. Please, please, please donate if you can, no matter how small and share this page.

If you want to know more about mason here is the link to his journey

https://www.facebook.com/share/1JpawvwhUH/

For more in-depth information about Nonketotic Hyperglycinemia (NKH), please visit foundationnkh.org or download our information booklet: