When it comes to genetics, some children struggle with physical and mental health issues that threaten their lifestyles. Sometimes, their genes turn against them, and rare genetic diseases threaten their lives.
Though many of these diseases are unpreventable and incurable, it’s possible to make these children more comfortable and increase their lifespan by simply being aware. It’s a small comfort in the trying time of losing a child to illness, but it’s a comfort, nevertheless.
Being aware of the following rare diseases could help affected children live more comfortably.
- Fragile X Syndrome
This is a rare genetic condition that can cause intellectual disabilities, behavior problems, and physical abnormalities in children. They may have attention deficit disorder (ADD) and score on the autism spectrum. Males are more likely to have the disorder than females, and they tend to have more severe symptoms. This is a lifelong condition, but some can experience independence in adulthood, though their lifespan is shorter than average. Researchers are continually working towards raising funds and finding a cure for this debilitating genetic disorder.
- Batten Disease
Both boys and girls can develop Batten disease. The symptoms typically show up between 5 and 10 years of age, and include loss of vision and seizures. After some time with the disease, children lose muscle control and experience atrophying brain tissue, putting them in a state of total paralysis. Children also experience sight loss and dementia early on. This disease is fatal, and most pass away in their late teens or early 20s.
- CANDLE Syndrome
CANDLE stands for chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome. It’s very rare and is classified as an auto inflammatory disease. It’s typically inherited by a dormant gene from the parent. Symptoms occur as early as infancy and include recurring fevers, delayed development, skin rashes, clubbed fingers and toes, enlargement of the liver, and distorted facial features, like swollen eyelids. Life expectancy isn’t very long, and quality of life is severely affected with little help from therapeutic treatments.
- Ellis Van Creveld Syndrome
This is an inherited disorder that happens because of an error on Chromosome 4. It’s clear from infancy, since the baby will have features similar to dwarfism, including short stature, forearms, legs, and perhaps extra toes and malformations in the chest and pelvis area. Additionally, more than 50 percent have a heart defect that causes them to die in early infancy.
- Neuroblastoma
Neuroblastoma is a cancer that only affects children. The cause is unknown, and it’s most common in children under five years of age. It can even occur before a child is born, causing the infant to be stillborn or die shortly after birth. Children diagnosed with this cancer have a low survival rate, and the treatment is so severe, that those who live past childhood have long-term negative health effects as a result.
- Ehlers-Danlos Syndromes
This is a series of genetic disorders with common features that include easy bruising, weak tissues, joint hyper mobility, and skin that stretches easily. It can also affect the autonomic nervous system, which is necessary for breathing and urination. The symptoms vary in severity, and quality of life can be seriously affected.
- Krabbe Disease
There are four subtypes of this disease, depending on the age of the child. Type one begins at three to six months, and it’s the most common. The disorder affects the nervous system and can damage nerve tissue. Eventually, this can lead to muscle atrophy, loss of muscle control, arching back, and damage to vision and hearing. There is no cure for the disease, and those with Type 1 Krabbe disease typically don’t live past one year.