Maddens Journey with NKH

Meet Madden !

Madden was born full term on November 9th 2016 and weighed 7lbs 3oz at Credit Valley Hospital, Mississauga. He did not show many signs of life including no crying, no eye opening, no reactions and was unable to eat.  After the hospital exhausted all resources, he was sent to Sick Kids Hospital in Toronto at just 6 days old. Madden has received a spinal tap, an MRI, multiple EEGs, Lots of Blood work, Urine workups and more tests and eventually the metabolics team came to agree Madden had a terminal genetic disorder called NKH (Non-ketotic hyperglycinemia)
(read definition below). 

Madden was given two weeks to live. (He is now almost 14 weeks!) 

He was discharged home on December 29th, only to return to a local hospital weeks later for a two week stay for weight loss, NG tube reinsertion and possible increased seizure activity. 

Madden and his mother now reside with his Aunt, Uncle and their family where they have many relatives close by  including grandparents, aunts, uncles and cousins to help with transportation and medical care.

Madden currently suffers from low muscle tone
(Hypotonia) which prevents him from being able to adequetly swollow  oral feeds, affects digestion, motor skills and more as he grows. The low muscle tone also contributes to the risk of aspiration. He endures seizures and intense reflux.  He currently is fed via a Naso Gastric tube and eventually will have  a full Gastric feed tube put in.

Madden is currently on 6 different medications including;

Dextromethorphine - This helps by binding to the receptors in Maddens brain so the glycine attacks it, instead of his neurons .

Omeprezole - This medication helps control the intense reflux Madden experiences.

Domperidone - This medication helps move stomach contents and helps prevent reflux and aspiration.

Keppra - This is an anti convulsant meant to help control his seizure activity. 

Levocarnitine - Meant to help give Madden energy to prevent lethargy. 

Sodium Benzoate - Reduces the glycine levels in his blood.

He receives formula via his NG tube every three hours (all day and night) which takes up to 1 hour to do and medications four times a day which can take around 20 minutes. So as you can say, not much sleep is had!

Every day is a precious gift and Madden sure has proved he is a miracle and fighter!

There are many different professionals helping with Maddens care including Home Nurses, Pediatricians, Occupational Therapists, Dieticians, Metabolic Team at Sick Kids, Neurology at Sick Kids, Genetics Counsellors, Social workers and more. 

We just reecived confirmation from Sick Kids Genetics department with the results of genetic testing at birth confirming the NKH. Madden is missing the GLDC Gene which is the most common and severe form of NKH. 

Non-ketotic hyperglycinemia (NKH) is 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.

Classic NKH is caused be genetic variants (mutations) in the genes that encode the components of the glycine cleavage enzyme system. This enzyme system is responsible for breaking down the amino acid glycine in the body. When it is not working properly, glycine accumulates in the body, resulting in the symptoms associated with NKH.

(Taken from https://rarediseases.org/rare-diseases/nonketotic-hyperglycinemia/ )

Please check out the above website for more information about this condition.


All funds raised via Maddens GOFUNDME campaign will go to his daily care, medical costs, transportation cost and all else associated with helping with his care.  Unfortunately, not all of his medications are covered under the Ontario Drug Card and these are pertinent to his survival. With multiple trips to Toronto and Brampton every week, funds are needed to help with parking fees and fuel.  Doctors have also suggested Maddens mother not return to work as she is needed for his 24 hour medical needs. Madden will eventually (we hope) get his G tube inserted which if not covered by any finance programs will cost upwards of a couple thousand dollars.  In the future, doctors also suggest he may never walk, talk or even grasp things so there will be future costs such as a wheelchair, home accessability improvements, etc. Unfortunately, there is no cure for NKH but we continue to help him thrive with all the love and support we can give. 


We will make sure to post as many photos and updates as we can.