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A disease is termed as a rare disease if it affects a small percentage of a given population. A disease can be rare in part of the world and common in another part. Most rare diseases are genetic, hence chronic; with a large percentage affecting children.
Rare Disease Day is a day held to raise awareness on rare diseases, improve access to treatment as well as create support networks for individuals living with rare diseases and their families. It is marked on the last day of February each year since 2008.
Kenya marked the first rare disease day in 2014. The event was spearheaded by two organizations Muscular Dystrophy Society Kenya (led by Faith Njahira) and Stepping Stones – Kenya (led by Christine Mutena). They have continued to raise awareness each year, to make a difference to Kenyans, to make a better medical future for our children’s children.
This year, Kenya held its first ever physical event in marking rare disease day. We had individuals living with rare conditions, care givers and well wishers grace the event. It was a blessing seeing so many people come together, from all walks of life, to share experiences and encourage each other. To interact with the rare community and hopefully meet someone afflicted with the same condition.
The organizers of rare disease day came together due to the common bond of them having being afflicted directly or indirectly by a rare disease. Faith suffers from Limb Girdle Muscular Dystrophy (LGMD) while Christine’s two children rare conditions; one has Hemihyperplasia, Hydrocephalus and the other Ring 18 Chromosome.
These rare diseases are challenging as they have no cure and each condition manifests differently with each individual. Misdiagnosis of these conditions is very common, with some individuals even spending their whole lives undiagnosed. The health system in Kenya doesn’t cater much for rare diseases as most of the health workers have never heard of these diseases let alone seen another individual with the same. Individuals with rare diseases require management for the rest of their lives which is costly and most times not available in the country.
LGMD is a group of disorders affecting voluntary muscles, mainly those around the hips and shoulders. These are the muscles you use to move the limbs, neck, trunk and other parts of the body that are under voluntary control. Over time, muscle weakness and atrophy can lead to limited mobility and an inability to raise the arms above the shoulders. The term proximal is also used to describe the muscles that are most affected in LGMD.
Hemihyperplasia, formerly called hemihypertrophy, is a rare disorder in which one side of the body grows more than other, causing asymmetry. In a normal cell, there is a mechanism that turns off growth once the cell reaches a certain size. However, in hemihypertrophy, the cells on one side aren’t able to stop growing. This causes the body to continue growing or enlarge abnormally. This disorder is congenital, which means that it is evident at birth. Children with Hemihyperplasia are at an increased risk for tumors, specifically those that occur in the abdomen. Wilms tumors, which occur in the kidneys, are the most common.
The rare diseases represented during our event included: Muscular Dystrophy (Duchene, LGMD), Ring 18 Chromosome, Hemihyperplasia, Multiple Sclerosis, Spinal Muscular Atrophy, Albinism and Hereditary Angioedema.
This is just but a small percentage of the rare diseases that are in Kenya. The above just represent those that have already received their diagnosis and have access to proper healthcare and telecommunication.
During the event, we had a panel discussion where patients and caregivers shared their experiences living with a rare disease. One patient narrated how his wife left him because of his condition after he refused to visit the witchdoctor. Sadly, in Kenya that is a common trait and given that the conditions are unexplainable the more they fuel the witchcraft fantasy.
Another parent shared how hard it has been watching his son suffer and deteriorate as time passes. How he once upon a time used to sit by himself but now has to be supported so as to sit upright. No eye was dry as we shared his pain and the strength he exuded in continuing giving care to his son.
Stories were shared, tears were shed, and hugs were given. No one went home untouched, no one left empty hearted, everyone left knowing they were a part of a community. As rare as their community was, they had left their mark on it.
Stories were shared, tears were shed, and hugs were given
This is just but the beginning of a movement, the rising of a community, the flicker of hope in the burning embers of health. This is to making the voice of rare diseases heard.
https://youtu.be/3NdDkCNttCo (2016 Rare Disease Day event video)
https://www.youtube.com/watch?v=xfdk_cDvMoI (2014 Rare Disease Day television talk show)
Christine Mutena is a mother to two children, both with non-related genetic conditions. She is a special needs advocate as well as a rare disease advocate. She is an organizer in the Rare Disease Day campaign, Kenyan Chapter.
She is the founder and administrator of an online support group for parents of children with special needs (Stepping Stones Kenya – @StepStonesKE) which seeks out to provide a haven for them to share, vent, ask, and most importantly feel like they are not alone. It is not geared to any specific disability, neither is it prohibitive to parents only.