Get Isaac moving again

Hi I’m Colleen Isaac’s mum, Isaac is now 13! He’s a glass half full kinda kid! Unfortunately as some of you know he was born with a rare genetic disease called Osteogenesis imperfecta Or OI for short.

Osteogenesis imperfecta (OI) is a rare disease affecting the connective tissue and is characterized by extremely fragile bones that break or fracture easily (brittle bones). The abnormal growth of bones is often referred to as a bone dysplasia. The specific symptoms and physical findings associated with OI vary greatly from person to person. The severity of OI also varies greatly, even among individuals in the same family. OI may be a mild disorder or result in severe complications.

Four main types of OI (the collagen types) have been identified based on clinical features and severity. These types account for 85-90 percent of OI cases and are caused by mutations (changes) in the COL1A1 or COL1A2 genes. These genes code for type 1 collagen, the most abundant collagen in the human body. It is found in bones, tendons and ligaments. OI type I is the most common and the mildest form of the disorder. OI type II is the most severe of the collagen types. OI types V through XXI (the non-collagen types), as well as unclassified types, make up the remaining 10-15 percent of OI cases. These types are caused by changes in genes that code for proteins that interact with collagen.

for Isaac it’s affected more than just bones, it’s eyesight, kidneys joints and more.

hes recently broken BOTH tibias leaving him wheelchair bound for the foreseeable future. Getting the right equipment isn’t cheap and I’m struggling to make his life easier, so he can be independent. And get back to school.

we need some help to get him moving again. We need ramps and a self propelled wheelchair so he can get around with us having to pick him up.

getting help from the nhs is long and unlikely. As we have to jump through hoops to prove he needs it.

even if it’s a £1, that’s still £1 closer to give Isaac his independence back.

if we raise more than what we need we will donate the rest to GOSH where he receives his treatments.

thank you

Colleen