Help Nolin with his Rare Condition
Donation protected
Nolin has just been diagnosed with a rare disorder that has not been discovered in any other human so far. It is described as NANS deficiency, but does not yet have a name.
This is a metabolic disorder that falls under the "Congenital Disorders of Glycosylation". He is missing a crucial enzyme/protein that affects his tissues, cells, brain, muscles, vision, kidneys, heart, intestines, bowel, larynx, trachea, lungs and his blood.
We have been in and out of Children’s Hospital in the last 3 years for all of his medical needs including 2 operations and his seizure disorder with constant follow ups. Last summer he was having 100 seizures a day and stopped breathing on the way to the hospital. We have had to do CPR on him a few times now. This is very scary.
Nolin cannot hold up his head, sit, stand, eat orally, talk or see very well. He needs 24hrs of care and is completely dependant on others.
He is getting a wheelchair soon and we are now needing funding for his wheelchair van, house adaptations(ramps, lifts, wheelchair accessible bathroom), and home renovation(we need to build two bedrooms on the main floor so our bedroom can be close by, and we can reposition him at night when necessary, to deal with his breathing issues and seizures). We also need help with his medicine(he is needing many, many different supplements, as his body works differently and is deficient in many vitamins, enzymes, minerals etc., plus his epilepsy drugs are causing him life threatening side effects that we are needing to use alternative treatment for), research(he needs many different tests to measure his defciencies and these are not covered by the medical system), and his ongoing care (depending if we get enough nursing help) with possibly more to come.
Right now we have set the goal to get a wheelchair van and the house adaptations including the home renovation, since it is all so much and overwelming. We want to focus on Nolin's quality of life as best as we can. Bringing him into this world is a huge responsiblity and we want to give him as much comfort, safety, freedom and quality of life as any loving parent would.
It is a quest into the unknown. No one knows what to expect as Nolin is the first one with this disorder and there is very little to navigate with. Hopefully we will be able to help other's that may encounter the same genetic mutation in the future.
Thank you!
I welcome you to follow Nolin's journey on Facebook:
https://www.facebook.com/pages/Nolins-Odyssey-A-quest-into-the-unknown/419810034853584?ref=hl
Please see our featured story in The Province newspaper, we made the front page:
http://www.theprovince.com/health/mission+family+tackle+nolin+rare+disease+together/11421447/story.html
This is a metabolic disorder that falls under the "Congenital Disorders of Glycosylation". He is missing a crucial enzyme/protein that affects his tissues, cells, brain, muscles, vision, kidneys, heart, intestines, bowel, larynx, trachea, lungs and his blood.
We have been in and out of Children’s Hospital in the last 3 years for all of his medical needs including 2 operations and his seizure disorder with constant follow ups. Last summer he was having 100 seizures a day and stopped breathing on the way to the hospital. We have had to do CPR on him a few times now. This is very scary.
Nolin cannot hold up his head, sit, stand, eat orally, talk or see very well. He needs 24hrs of care and is completely dependant on others.
He is getting a wheelchair soon and we are now needing funding for his wheelchair van, house adaptations(ramps, lifts, wheelchair accessible bathroom), and home renovation(we need to build two bedrooms on the main floor so our bedroom can be close by, and we can reposition him at night when necessary, to deal with his breathing issues and seizures). We also need help with his medicine(he is needing many, many different supplements, as his body works differently and is deficient in many vitamins, enzymes, minerals etc., plus his epilepsy drugs are causing him life threatening side effects that we are needing to use alternative treatment for), research(he needs many different tests to measure his defciencies and these are not covered by the medical system), and his ongoing care (depending if we get enough nursing help) with possibly more to come.
Right now we have set the goal to get a wheelchair van and the house adaptations including the home renovation, since it is all so much and overwelming. We want to focus on Nolin's quality of life as best as we can. Bringing him into this world is a huge responsiblity and we want to give him as much comfort, safety, freedom and quality of life as any loving parent would.
It is a quest into the unknown. No one knows what to expect as Nolin is the first one with this disorder and there is very little to navigate with. Hopefully we will be able to help other's that may encounter the same genetic mutation in the future.
Thank you!
I welcome you to follow Nolin's journey on Facebook:
https://www.facebook.com/pages/Nolins-Odyssey-A-quest-into-the-unknown/419810034853584?ref=hl
Please see our featured story in The Province newspaper, we made the front page:
http://www.theprovince.com/health/mission+family+tackle+nolin+rare+disease+together/11421447/story.html
Organizer
Darlene Schopman
Organizer
Mission, BC
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