Imagine a world where every breath is a struggle, every movement a hurdle, and the simplest tasks require unwavering determination. This is the daily reality for countless children facing Mucopolysaccharidosis (MPS), a rare genetic disorder that throws a wrench into the body’s ability to break down complex sugars.
But amidst the challenges, their spirit shines brighter than ever. Today, we meet a remarkable young boy, Kuzivakwashe (not real name). A warrior whose determination to live life to the fullest transcends his physical limitations. His story is not one of despair, but a testament to the extraordinary strength that lies in people with rare diseases.
What is Mucopolysaccharidosis?
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. Individuals with mucopolysaccharidosis either do not produce enough of one of the eleven enzymes required to break down these sugar chains into simpler molecules, or they produce enzymes that do not work properly. Over time, these GAGs collect in the cells, blood, and connective tissues. The result is permanent, progressive cellular damage which affects appearance, physical abilities, organ, and system functioning.
Symptoms of Mucopolysaccharidosis
Physical symptoms include:
- Coarse facial features (including a flat nasal bridge, thick lips, and enlarged mouth and tongue)
- Short stature with disproportionately short trunk/torso
- Abnormal bone size and/or shape (dysplasia) and other skeletal irregularities
- Thickened skin
- Enlarged organs such as the liver or spleen.
- Hernias
- Carpal tunnel syndrome restricting hand mobility and function.
- Recurring respiratory infections are common, as are obstructive airway disease and obstructive sleep apnea
- Heart disease, often involving enlarged or diseased heart valves.
Diagnosis
A diagnosis of a mucopolysaccharidosis disorder is made based upon a thorough clinical evaluation, identification of characteristic findings (for instance coarse facial features, skeletal malformations, hepatosplenomegaly), and a variety of specialized tests including urine analysis to detect excessive levels of mucopolysaccharides. Tests known as enzyme assays may be performed to detect deficient levels of lysosomal enzymes in cells of the body.
Whole Genome sequencing test can also be used to diagnose this condition.
Treatment
There is currently no cure for MPS, but treatment options focus on managing symptoms and slowing disease progression. These include enzyme replacement therapy (ERT), stem cell transplantation, surgery, pain management, respiratory support, and physical therapy.
Conclusion
While there is no cure yet, ongoing research, innovative treatments, and therapies are underway. The strength and resilience of patients, like Kuzivakwashe and their families inspire scientists to come up with therapy options. Through increased awareness, dedicated research, and unwavering support, there can be a brighter future for those living with MPS.