Pathways for Rare and Orphan Solutions (PROS) Foundation is a 501(c)(3) nonprofit organisation committed to improving access to life-changing treatments for patients living with rare diseases worldwide. Initially, our mission focused on readying rare disease organisations for clinical trials. However, our partnership with the ‘Rare Disease Ghana Initiative’ revealed the significant barriers to diagnosis and access to rare disease treatments in Sub-Saharan Africa and other low- and middle-income countries (LMICs). Inspired by this urgent need, we have expanded our mission to secure treatment donations and raise funds to support children with rare diseases in LMICs

A family’s unbearable burden: three children battling MPS IVA

In a small home in Ghana, three siblings—Jonathan, Desmond and Charity—live under the shadow of MPS IVA (Mucopolysaccharidosis type IVA, or Morquio syndrome type A), a cruel and rare disorder that is slowly robbing them of their childhoods, their independence and their futures. This inherited disease, caused by a missing enzyme, attacks their bodies relentlessly. Though they were born seemingly healthy, the symptoms have crept in over the years—scoliosis, knock-knees, chest deformities, hearing loss and more—leaving them with severe disabilities and little hope for relief.

For these three children, every day is a struggle. Jonathan, at 19, is a bright and intelligent young man whose dreams have been crushed by his condition. Bullied and ridiculed for his physical limitations, he has decided to stop attending school, retreating from the world around him. Sixteen-year-old Desmond, who can no longer walk, depends on his friends to push his wheelchair to school. Charity, just 8 years old, is carried on her mother Grace’s back, her small frame too frail to keep up with other children her age.

Grace, their single mother, shoulders this heartbreaking reality alone. Despite her endless love and devotion, the burden is overwhelming. MPS IVA is a progressive disease, and without treatment, it will continue to steal her children’s health and mobility, likely cutting their lives tragically short. There is a treatment that could slow disease progression—but it is heartbreakingly out of reach. In developed countries, this treatment is available giving children with MPS IVA a chance at a longer, more comfortable life. But for families like Grace’s in Sub-Saharan Africa, the cost is insurmountable.

Recently, PROS provided power wheelchairs for Desmond and Charity, giving them a small measure of independence. But these are only temporary solutions; the disease will continue to progress, and their needs will only grow. Jonathan, Desmond and Charity are running out of time. Their story is a cry for help—a reminder of the devastating impact of untreated rare diseases on children and families. No child should have to endure this kind of pain.

A mother’s hope for Twakulilwa: a life worth fighting for

When Twakulilwa was born in Windhoek, Namibia, her first cries filled her family with joy and hope for a bright future. She appeared healthy and strong, her tiny arms and legs kicking fiercely in the air. But by the time she was nine months old, something had changed. She could no longer sit up. Her legs, once so full of life, barely moved. Her small hands could no longer hold onto her favorite toys.

After months of tests and searches for answers, Twakulilwa’s family received heartbreaking news: she had spinal muscular atrophy (SMA) type 1. SMA is a genetic disorder that destroys motor neurons in the spinal cord, leading to progressive muscle weakness and loss of essential functions like sitting, eating and even breathing. Without treatment, children with SMA type 1 often don’t survive beyond two years.

New therapies exist that could give Twakulilwa a chance at life—a chance to sit up, to laugh, to breathe on her own. A chance for a future. These therapies are transforming the lives of children with SMA around the world. Yet, for families like Twakulilwa’s living in a low-income region, these life-saving treatments are distressingly out of reach.

Her mother struggles with the heavy burden of watching her daughter’s condition worsen, knowing there is help available but no way to access it. She shares her pain:

“Seeing her lay in her walking chair with her head leaning backward and her failed attempts to reposition herself makes me want to cry—for me, for her and for all the children with this condition. Tell me how one is supposed to walk and carry their head, knowing their child, without help, will need so much aid to be well. I have stopped knowing how. My hope is that she will have the freedom to sit, walk, talk, run and play. To laugh, to hug, to eat—even breathe. To have a future. I believe she is worth it; all children are. If only hope were enough.”

No parent should have to wonder if their child’s life could have been saved if only they’d been born somewhere else. Together, we can change this story for Twakulilwa and others like her.

Diagnosis

Obtaining a diagnosis in Africa is challenging, and a high proportion of patients with rare diseases in Africa remain undiagnosed. Many families will never know the cause of their child’s illness. Next-generation sequencing (NGS)-based diagnostics tests are not offered routinely to patients in Africa at this time. The main barriers include limited existing infrastructure and processes, insufficient funding, lack of political support and poorly structured health systems. However, some patients in Africa can receive NGS tests through research projects, international research collaborations and philanthropic initiatives such as the Centers for Mendelian Genomics (CMG) and the iHope programme. Grace’s children were diagnosed through the iHope programme, which was provided free of charge by Illumina.

Reimbursement

While there are no treatments for most rare diseases, life-changing treatments do exist. In the United States and other developed countries, children like Jonathan, Desmond, Charity and Twakulilwa can usually access these medications, significantly enhancing their health, quality of life and life expectancy. However, accessing these treatments in low- and middle-income countries is a far greater challenge.

The cost of these treatments is prohibitively high, and health insurance coverage in regions like Sub-Saharan Africa remains dismally low—only 7.9% of people, on average, have any form of coverage. Even when insurance is available, it rarely reimburses expensive treatments for rare diseases. For most families in LMICs, paying out of pocket is simply impossible. Globally, nearly 2 billion people lack access to essential medicines, including life-saving treatments for rare diseases.

While promoting universal health coverage (UHC) has become a global priority and is a target of the United Nations’ Sustainable Development Goals (SDGs) in LMICs, progress is slow and uncertain. In the meantime, countless children will not survive due to a lack of access to treatment.

It is heartbreaking to witness the progression of these diseases in children when effective treatments exist but remain out of reach and which is why Pathways for Rare and Orphan Solutions is committed to raising awareness of this critical issue and mobilising resources to help families secure the care their children desperately need.

To find out more about the work of Pathways for Rare and Orphan Solutions and how it is helping to bring treatments to patients living with rare diseases worldwide, please visit: prosfoundation.org

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