Quade needs our help
“We cannot control the winds, but we can adjust our sails. We will reset and refocus every day if that means we will fight another day, as we will continue in this fight for our boy.”
Quade Smith’s story touched the hearts of many.
This seven-year-old boy has been diagnosed with Duchene Muscular Dystrophy (DMD).
Boys are born with DMD but they only start showing symptoms from the age of two.
Quade’s creatine kinase levels were 16 800 of which normally are 90 to 100 and that was a sure indication that there was an injury or a disease of the muscles.
His father, Gerrit Smith explained that a gene is made up of coding regions called exons and when the genetic testing came back, it showed Quade has exon 45 deletion out of frame.
This means the protein gene only reads up to 44 and then stops.
DMD comes from a gene in the body, the dystrophin gene which is responsible for protein production in the muscles.
When breaking down the gene membrane, the dystrophin gene consists of 79 exons that resemble a puzzle.
In DMD one or more of their exons are either duplicated or deleted.
“When this happens, as the boys walk or climb and the muscles are worked, they tear. Normally the muscles will repair themselves, but in DMD because there is no protein production, the muscles stay torn open, which leads to fat and extra calcium entering the muscle,” Quade’s stepmom Jade explained.
“The extra calcium thus attacks not only the dead protein cells but also the new protein cells, stopping the production of protein leading to muscles not being repaired. With no muscle protecting the bones, it becomes brittle putting DMD boys at high fracture risks. To keep the bones healthy for as long as possible, extra calcium supplements are introduced, but there is a catch because it breaks down the muscles faster.”
For the rest of his life, Quade will have to take steroids to keep his muscles strong, heart medication, calcium supplements, Vitamin D, laxatives, and iron supplements.
“We still have a long journey with our boy Quade; today he is ambulatory which means he could still walk. He is already in a manual and electric wheelchair. From here our boy will continue to deteriorate soon becoming non-ambulatory and permanently wheelchair-bound, medical beds and BiPap machines for breathing, and having a permanent caregiver is going to be our future and the future for so many other boys diagnosed with DMD.”
Gerrit and Jade started a non-profitable organization to raise awareness and funds for all Duchene boys.
“Our mission within our organization is to create awareness and equality for Duchenne boys to assist newly diagnosed parents and boys by giving them real-life reference material as we embark on our journey with DMD. We were determined to find answers across the globe, to educate everyone in our path, be activists for DMD.”
“We know our community is one of the strongest communities, and we are stronger together. We need you today more than ever,” Jade and Gerrit said.
Contact them at jade@qjdmd.co.za or gerrit@qjdmd.co.za for more information.
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