• Follow Us
  • +256 394 807078
  • Kampala Uganda

DMD and Disability

DMD and Disability

DMD and Disability

The story of our Duchenne Muscular Dystrophy Program began with a deeply moving encounter. We were introduced to Duchenne Muscular Dystrophy (DMD) through Tim Gillen, a cherished friend and one of our most generous donors. Tim tragically lost his two sons, Everett and Austin, to DMD. Rather than letting grief consume him, Tim channeled his pain into a powerful mission to support other children battling this debilitating disease across the globe.

In 2018, Paul Collins met Tim Gillen, who shared his heart-wrenching yet inspiring journey. This meeting was the catalyst for the creation of the Duchenne Muscular Dystrophy Program under the Sapphire Africa Foundation. Although we had been helping many disabled individuals, it was through Tim’s story that we became aware of Muscular Dystrophy, and specifically Duchenne Muscular Dystrophy, and its impact on families in Uganda.

Since then, we have discovered that numerous families in Uganda are affected by Muscular Dystrophy, and our program is dedicated to supporting them in their time of need.

But what is Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy is a rare, genetic condition that is characterized by
progressive muscle damage and weakness.

Sometimes shortened to DMD or Duchenne, this rare disease is caused by a genetic
mutation that prevents the body from producing a protein called dystrophin. Dystrophin
acts like a shock absorber when muscles contract. Without dystrophin, muscles become
more and more damaged and weakened. They may also lose the ability to repair
themselves after an injury. Over time, children with Duchenne will develop problems
walking and breathing, and eventually, the heart and the muscles that help them
breathe will stop working. Duchenne is an irreversible, progressive disease. While there
have been many advancements in the management of Duchenne, there is no cure at
present.

Duchenne primarily affects males, with 1 in 3500 to 5000 boys born worldwide having Duchenne. In rare cases, it can also affect females. Although the first signs of Duchenne may appear as early as 4 months of age, more noticeable signs such as problems walking or standing usually emerge around the age of 2 or 3.

Donate now
Contact us

Children with Duchenne Muscular Dystrophy often face challenges early in life, such as delayed milestones like sitting, standing, or walking. Most are unable to run and jump properly due to muscle weakness. At the Sapphire Africa Foundation, our mission is to enhance the health-related quality of life for children with Duchenne Muscular Dystrophy and other disabilities, while also increasing opportunities for affected individuals and their families in developing countries.

Our approach is multifaceted. We provide nutritional support to ensure that children receive the vital nutrients they need for their overall health. We offer mobility tools to help children move more freely, and we conduct training for parents and caregivers to equip them with the skills necessary to manage this challenging condition. In addition, we raise awareness about Duchenne Muscular Dystrophy and advocate for inclusivity, working to break down the stigma that often surrounds disability.

In many developing countries, children with disabilities are underserved, neglected, and sometimes even abandoned by their families. Many of these families live in remote areas with little to no access to medical and healthcare resources, making it incredibly difficult for them to meet their basic needs. This is where the Sapphire Africa Foundation steps in, providing much-needed support to help families overcome the grief and stigma associated with Duchenne Muscular Dystrophy.

Currently, we are supporting 23 families affected by Duchenne Muscular Dystrophy across six districts in Uganda, as well as 14 patients in Kenya, 4 in Cameroon, and 8 in Nigeria. Our work is a lifeline for these families, offering hope and a brighter future for their children. With the continued support of our donors, we can expand our reach and help even more families overcome the challenges posed by this devastating condition