Rare diseases are those suffered by few people, that is, a very limited number of the population. In fact, a specific disease is considered rare when its prevalence is less than five people per 10,000 inhabitants. There are approximately seven thousand rare diseases listed as such.
In Spain, an estimated three million people suffer from any of these diseases, and two out of three manifest before reaching the age of two. Of every 100 children who die in Spain in their first year of life, it is estimated that 35 do so because of a rare disease.
More than half are diagnosed in children
Unfortunately, the little ones also suffer from this type of disease, causing confusion and anguish in parents. Being many of them unknown, the diagnosis is very complex and can be delayed for years, and for some there is no treatment.
In Babies and more, Emilio Aragón's precious short film about rare diseasesIn 50 percent of cases, rare diseases appear in pediatric age, given the high frequency of diseases of genetic origin and of congenital anomalies that fall within the denomination 'rare disease'.
The 80 percent of rare diseases are genetic, while the remaining 20 percent owes its origin to environmental factors, infectious agents or to unknown causes.
However, the prevalence is higher in adults than in children, due to the excessive mortality of some serious childhood diseases. Rare diseases are responsible for 35% of deaths before the year of life, 10% between 1 and 5 years and 12% between 5 and 15 years.
"In many cases they do not have a specific and / or effective treatment, and they are usually diseases that generate serious and disabling consequences for patients, with high morbidity and mortality figures. They also tend to have a genetic origin and the most frequent are those that affect the nervous system ”, explains Dr. Jorge Matias-Guiu Guía, Coordinator of the Study Group of Neurogenetics and Rare Diseases of the Spanish Society of Neurology (SEN).
13 rare diseases that affect children
We list some of the most common rare diseases that children can present and have a genetic component:
1. Cystic fibrosis
Cystic Fibrosis is the most common genetic disorder among caucasian children. It is a disease characterized by sweat production with a high salt content and mucous secretions with an abnormal viscosity. It usually appears during early childhood or, more rarely, at birth.
Any internal organ can be affected, although the main manifestations affect the respiratory system (chronic bronchitis), the pancreas (pancreatic insufficiency, adolescent diabetes and occasionally pancreatitis) and, more rarely, the intestine (stercorcitis obstruction) or the liver (cirrhosis) , impaired by the accumulation of mucus viscosity, which tends to stick in these areas.
2. Rett syndrome
Rett syndrome is the consequence of mutations on the X chromosome and therefore usually manifests itself in girls, although in atypical cases it can occur in men. It is not so evident at birth, but tends to manifest itself during its second year of life.
It is characterized by a significant overall developmental delay that affects the nervous system whose symptoms are a delay in motor coordination and language. Apraxia (inability to perform motor functions) interferes with all movements of the body, including fixing the gaze and speech.
As the syndrome progresses, involuntary hand movements, characteristic of people with this syndrome, are observed.
3. Moebius syndrome
This disease also known as Moebius Sequence occurs when two cranial nerves do not fully develop. These nerves are responsible for the blinking, lateral movement of the eyes and facial expressions, which causes paralysis of the face. This causes drooling, speech difficulties and pronunciation problems.
People with Moebius syndrome can't smile or frown, and you can't often move your eyes from side to side. Some children are not detected for months and sometimes even years after birth.
In Babies and more, let's talk about them: eleven questions about rare diseases4. Prader Willi syndrome
Prader Willi syndrome is a genetic disease characterized by obesity with hypotonia (decreased muscle tone) and hypogenitalism (insufficient development of sexual characteristics), (acromicria atrophy or excessive smallness of the extremities) and mental retardation.
Hypotonia is severe in the neonatal era, entails respiratory infections and feeding problems, while obesity begins between 6 months and 6 years.
5. Aase syndrome
Aase syndrome or Aase-Smith syndrome is a rare disease, sometimes inherited, caused by insufficient bone marrow development.
It is characterized by pronounced anemia, congenital craniofacial malformations and limb deformities.
Babies with this disease have problems with breastfeeding, speech delay, motor delay, scoliosis, hydrocephalus, cleft palate, strabismus and cardiac malformations.
6. Hutchinson-Gilford Progeria syndrome
It is a genetic disease that causes a premature aging In the kids. The little ones who suffer from it are usually born totally healthy and the disease manifests itself within a few months.
It is also known as "Benjamin Button's disease", for the movie 'The Curious Case of Benjamin Button', starring Brad Pitt and Cate Blanchet in which the protagonist is born in the body of an old man and is rejuvenating over the years until he becomes a baby.
7. Gilles de la Tourette syndrome
It is traditionally known as "Tics disorder" and affects one in every hundred people. Almost 90 percent of people with tics have other associated disorders, such as: Attention Deficit Disorder, Obsessive Compulsive Disorder, Phobias, social hypersensitivity, depression or Anxiety.
Generally, the first symptoms usually consist of tics on the face (usually flickering) over time, other motor tics (such as head, neck, kicks, etc.) appear, and at least some phonic tick (clearing) , strange sounds, words, etc.)
The variety of tics or tics-like symptoms is huge. The complexity of some symptoms often confuses family members, friends, teachers, and employers, who may find it hard to believe that the actions or words emitted are involuntary.
In Babies and more Rare is the disease, not the child: World Rare Disease Day 20188. Butterfly skin
It is also known as Hereditary Epidermolysis Bullous (EA), Bullous Epidermolysis (EB) and are a group of genetic diseases that have in common the existence of a extreme fragility of the skin and mucous membranes, causing blisters in the vast majority.
In Spain almost 500 people live with this rare genetic disease that is detected as soon as they are born. Its diagnosis is often devastating not only for those affected, but also for families, since it is a degenerative disease that has no cure today, and people who suffer from it should always be bandaged.
Fortunately, its prevalence is low, being included in the group of "rare diseases" (those with a frequency less than 1 case per 2,000 people). According to the latest DEBRA International data, it is estimated that the incidence of the disease in all its types is 15-19 born
9. Hemophilia
Hemophilia, a rare disease that affects children characterized by a blood clotting disorder caused by a genetic defect, which causes absence or decrease of some of the clotting factors. Depending on its grade, it has more or less serious consequences.
There are three types of Hemophilia: A and B (characterized by spontaneous or prolonged hemorrhages) and C (with moderate hemorrhagic symptoms). All are inherited disorders and, in general, affect more men than women. Also, their diagnosis occurs many times when affected children learn to walk, as explained by the Spanish Federation of Rare Diseases, although if one of the parents already has it, tests can be done before even the baby is born.
10. Duchenne's disease
Duchenne muscular dystrophy (DMD) mainly affects men. It is a rare and deadly genetic disorder that produces progressive muscle weakness from early childhood and leads to premature death around 20 years of age due to heart and respiratory failure.
It is a progressive muscular disorder caused by the lack of functional dystrophin protein. Dystrophin is essential for the structural stability of all muscles, including skeletal muscles, the diaphragm and the heart. It affects 1 in 3,500 children in the world (around 20,000 new cases each year)
A preschooler with DMD may seem awkward and may fall frequently. Soon, he has trouble climbing stairs, getting up from the ground or running. Upon reaching school age, the child may walk on the toes or toe, presenting a somewhat rolling march. Its march is insecure and wiggles and can fall easily. To try to keep his balance, he pulls out his belly and pushes his shoulders back.
He also has difficulty raising his arms. Almost all children with DMD stop walking between 7 and 12 years of age. In the teenage years, activities involving the arms, legs or trunk require help or mechanical support.
In Babies and more "We are all rare, we are all unique", World Day of rare diseases 11. Sanfilippo syndrome
It is a rare and devastating disease, known as childhood Alzéhimer, which affects one in 50,000 births. The disease is usually diagnosed between two and six years old.
It is a hereditary disease whose cause is the absence or malfunction of one of the enzymes of the cells necessary to break down and recycle complex materials that the body does not need.
Due to this genetic failure, the material that should decompose (heparan sulfate) accumulates in the cells with devastating consequences for the organism, causing mental deterioration, hyperactivity and self-destructive tendencies, leading to premature death during adolescence.
The disconcerting thing about Sanfilippo Syndrome is that its symptoms are not easily identifiable, therefore they can be confused with other disorders such as attention deficit disorder (ADD), since there is hyperactivity, and learning difficulties.
Usually, in the first years the child's growth is normal. There may be some signs such as a slight hepatomegaly (pathological increase in liver size), caries, chronic rhinitis, repeated upper airway infections and chronic diarrhea, but nothing too noticeable.
12. Juvenile dermatomyositis
We talked about this disease when we echoed the emotional letter from the father of a newly diagnosed three-year-old boy. It is a rare, serious and chronic disease, autoimmune nature and start before age 16. Its cause is unknown, although there is a tendency to think that the trigger could be a viral infection.
It is known as "the invisible disease" and is characterized by inflammation of the muscles (myositis), skin, blood vessels and sometimes some other organ of the body. It is a very rare disease that affects four children per million.
Symptoms can range from mild muscle weakness, such as difficulty getting up from chairs or turning in bed, to severe symptoms such as severe weakness or difficulty swallowing. Injuries, rashes or changes in the skin may also occur, from mild redness to severe ulcer formation, mainly on the face and hands.
13. Leigh syndrome
Leigh syndrome or subacute necrotizing encephalomyelopathy is a progressive neurological disease defined by the specific neuropathological characteristics associated with lesions of the brain stem and basal ganglia.
Its prevalence at birth is estimated at one in 36,000 babies. The onset of symptoms typically occurs before 12 months of age but, in rare cases, it can occur during adolescence, or even the onset of adulthood.
The usual initial symptoms are the lack of acquisition of the stages of motor development, hypotonia with loss of head control, recurrent vomiting and movement disorders.
