February 28th is celebrated World Rare Disease Day. A disease is considered rare when its prevalence is less than five people per 10,000 inhabitants. At first glance it might seem like a small number, however, there are currently approximately 7.000 cataloged rare diseases and according to data from EURORDIS (European Organization for Rare Diseases) and Orphanet Ireland in coordination with the French National Institute of Health and Medical Research (Irserm) it is estimated that around 300 million people worldwide suffer from a rare disease (three of them in Spain).
Children, unfortunately, are not oblivious to this reality. The aforementioned institutions stress that the 72% of rare diseases have a genetic origin and 80% of them debut in the pediatric age. The terrible reality is that rare diseases are responsible for 35% of deaths before one year of life, 10% between 1 and 5 years and 12% between 5 and 15 years. For all these reasons, making society aware of these pathologies and improving access to research and treatment has become a priority not only today, but every day of the year.
These are some of the rare diseases that manifest in the first years of life:
Rett syndrome
This syndrome is not evident at birth but tends to show up in the second year of life. It originates as a result of mutations in the X chromosome, which is why it manifests mainly in girls, although in atypical cases it can also occur in boys. It is characterized by a significant global delay in development that affects the nervous system and its symptoms are delayed motor coordination and language. As the syndrome progresses, involuntary movements of the hands appear.
Hemophilia
It is a hereditary disease that in Spain affects 1 person in 15,000. In almost all cases this disease is recessive for women but they can carry the gene and pass it on to their children. It is characterized by an alteration in blood coagulation caused by a genetic alteration, which causes the absence or decrease of some of the coagulation factors. It should be clarified that this disease does not cause abundant bleeding but bleeding that lasts longer than usual. There are three types: A and B (with spontaneous or prolonged bleeding) and C (with moderate bleeding symptoms).
Cystic fibrosis
Cystic fibrosis is a genetic disease that mainly affects the lungs, and to a lesser extent the pancreas, liver and intestine, causing the accumulation of thick and sticky mucus in these areas. It is one of the most common types of chronic lung disease in children and young adults, and it is a life-threatening disorder. The main manifestations affect the respiratory system (chronic bronchitis), the pancreas (pancreatic insufficiency) and, more rarely, the intestine (stercoraceous obstruction) or the liver (cirrhosis), affected by the accumulation of mucus viscosity, which tends to stick together. in these areas.
Tourette syndrome
It is estimated that between 0.4 and 3.8 of children between the ages of 5 and 18 may have this disease, also known as ‘tic syndrome’. The prevalence of transient and chronic tics in school-age children is high, with the most common tics being eye blinking, coughing, throat clearing, sniffing, and facial movements. Severe Tourette’s in adulthood is usually a rarity (most often moderate cases) and the syndrome does not adversely affect intelligence or life expectancy. Generally, the first symptoms usually consist of tics in the face (usually blinking). Over time, other motor tics appear (such as movements of the head, neck, kicking…) and to this is added at least some phonic tics (clearing the throat, strange sounds, words…). Men present it about three times more than women.
Aase syndrome
It is a genetic disease of the group of hereditary marrow failure syndromes that manifests itself by insufficient development of the bone marrow. Among its most frequent symptoms is congenital anemia and the appearance of skeletal and joint malformations. Babies with this disease have problems with breastfeeding, speech delay, motor delay, scoliosis, hydrocephalus, cleft palate, strabismus, and heart malformations.
Mobius syndrome
An extremely rare congenital neurological disease. It occurs because two very important cranial nerves, the sixth and seventh, do not fully develop, causing facial paralysis and lack of eye movement. These are the nerves that control blinking, lateral eye movement, and multiple facial expressions. The symptoms in the child are multiple, among others, initial difficulties in swallowing that can lead to developmental deficits and the problems that lead to lack of a smile, drooling, and faulty speech and pronunciation. The alterations observed in the eyes consist mainly of strabismus and limitation of movement.
butterfly skin
It is estimated that the incidence of this syndrome is very low (15-19 born), however, it is an extremely delicate disease. Also known as hereditary Epidermolysis Bullosa (EA) or Bullous Epidermolysis (EB), it is characterized by excessive fragility of the skin and mucous membranes, which causes blisters on the vast majority of the child’s body, which must always be bandaged. In Spain almost 500 people live with this genetic disease that is detected at birth.
Duchenne’s disease
Known as Duchenne muscular dystrophy (DMD), this rare disease occurs primarily in males. It is a rare genetic disorder (1 in 3,500 children worldwide) but fatal, since it causes progressive muscle weakness from early childhood and can lead to premature death around 20 years of age due to heart and respiratory failure. Currently, with proper care and new treatments, there are patients who are over 30 and 40 years old. Almost all children with DMD stop walking between the ages of 7 and 12. In the teen years, activities involving the arms, legs, or trunk require assistance or mechanical support.