Imagine having a child diagnosed with a disease so rare that it doesn’t even have a name—let alone any known cases. In the world of rare diseases, even conditions that affect one in every 2,000 people are considered rare, with many of these conditions being genetic and manifesting from birth. However, some genetic diseases might not appear until later in life. Together, these rare diseases place a heavy burden on both individuals and communities. That is why rare diseases are a public health concern.
There is a designated Rare Disease Day, which serves as an opportunity to raise awareness about the 60 million people worldwide affected by 6,000 rare diseases. "nadormagazine and Your Child" highlights some of the rarest diseases around the world, with children living with these untreatable conditions. The problem with such rare diseases is that their low prevalence can hinder the development of treatments, and often, there is no choice but to provide palliative care. When there are only 50 people suffering from a particular condition, research becomes much harder due to the small number of individuals to work with. In some cases, a diagnosis may take up to 20 years. Below are some of the rarest pediatric diseases as compiled by "nadormagazine and Your Child."
1. Fifteen Chromosome Mutation
This condition affects only 19 people worldwide, and it is so rare that it does not even have a proper name. The diagnosis is simply a direct description of what occurs to the chromosomes of the affected individual. Every person has 23 pairs of chromosomes. By the 15th day of life, one of the chromosome pairs becomes elongated, and this area triples in size, causing numerous issues. Children with this condition are unable to speak, experience severe seizures, and often rely on a wheelchair. Despite normal pregnancies, the child may not breastfeed and may appear weak and disinterested. Genetic testing can confirm the condition during adolescence. There is no known treatment currently, but there is hope that a solution might eventually be found.
2. Friedreich's Ataxia
This condition may start with a viral infection and symptoms similar to dehydration, but within 10 days, the child may end up in a wheelchair, unable to even hold a pen. Friedreich's Ataxia leads to progressive damage to the nervous system and heart, causing loss of mobility, sight, and hearing. Children with this disease may also develop diabetes and Asperger syndrome. Over time, they lose the ability to use their limbs, become blind and deaf, and lose the ability to eat, swallow, or speak. In the end, these children often die in their teenage years.
3. Argininosuccinic Aciduria
This condition might not appear until a child reaches the age of one. Argininosuccinic aciduria causes ammonia to build up in the bloodstream, which can become toxic if too many proteins are broken down. Symptoms develop gradually and include vomiting, prolonged comas, and brain swelling. Once the child wakes from the coma, brain damage can occur, leading to vision and hearing loss. Most children with this condition experience permanent brain damage, seizures, and developmental delays. However, with treatment, the child may survive longer and receive possible therapies.
4. Rett Syndrome
Rett syndrome is a rare genetic neurological and developmental disorder that affects how the brain develops. It causes a gradual loss of motor skills and speech. The most obvious changes typically appear between 12 and 18 months, lasting weeks or months. Symptoms can vary significantly from child to child, but females are more commonly affected. Initially, most children with Rett syndrome develop normally during the first six months. Then, they begin to lose previously acquired skills, such as crawling, walking, speaking, or using their hands. Over time, they experience increasing problems with muscle control, coordination, and communication. Rett syndrome can also lead to seizures and intellectual disabilities. Children may exhibit abnormal hand movements, like wringing, clapping, or tapping, instead of using their hands for normal activities. There is no cure, but treatments to improve movement and communication, and manage seizures, are under investigation.
5. Bile Acid Synthesis Disorder (Byler Disease)
This genetic condition results in an inability of liver cells to secrete bile, the fluid that aids digestion. As a result, bile accumulates in the liver, causing jaundice, itching, stunted growth, and delayed puberty. Byler disease is part of a group of disorders known as progressive familial intrahepatic cholestasis (PFIC). This condition leads to blood congestion in the liver and can lead to complications such as cirrhosis, varices, and ascites. A liver transplant may be necessary in some cases.
6. CANDLE Syndrome
CANDLE Syndrome is a rare autoinflammatory condition that results in chronic, non-specific skin inflammation, fat wasting, and fever in infants. It typically begins within the first year of life and is characterized by symptoms like enlarged liver, elevated liver enzyme levels, chronic anemia, and stunted growth. It is caused by mutations in the PSMB8 gene, which leads to protein waste accumulation and cell dysfunction. The condition is very difficult to diagnose without genetic testing. As it is an autoimmune disease, diagnosis may not always be conclusive. Early diagnosis and treatment can significantly improve the child's quality of life and potentially increase their life expectancy, as inflammation of organs is a major risk factor.
7. Propionic Acidemia (PA)
Propionic Acidemia is a genetic metabolic disorder where children are unable to break down certain fats and amino acids. As a result, organic acids build up in the blood and urine, leading to symptoms like lethargy, muscle weakness, poor appetite, and vomiting. These symptoms can appear shortly after birth and include failure to thrive, low muscle tone, and severe metabolic acidosis. Without treatment, this can lead to brain damage, intellectual disabilities, vision problems, pancreatitis, kidney failure, and even cardiac arrest. Some infants may not show symptoms until later in childhood, which is called late-onset propionic acidemia.
Raising Awareness for Rare Diseases
These are just a few examples of the rarest diseases that impact children around the world. Although some of these diseases are extremely rare and lack treatments, raising awareness and continuing research can help improve the lives of those affected. Even with rare diseases, early diagnosis and intervention can make a significant difference in the child’s quality of life. It’s crucial to continue supporting medical research and ensuring that rare disease awareness reaches as many people as possible.
Note from "nadormagazine": Before applying any treatment or advice, always consult with a medical specialist.
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