Rare disease day: when suffering is not heard

The fact of coming to the world with a rare disease is compounded, in many cases, by social, medical and institutional abandonment. To be born with butterfly skin, Morquio or Moebius Syndrome, implies first of all the need for health and pharmacological care that does not always cover all the needs of the child or adult.

Another factor to take into account is the emotional impact it has on parents, such as having to face the reality of a child, who must fight for life in a more intense, more painful way, where each effort must be multiple and where the family, overnight, must be a specialist in a disease that unfortunately, despite knowing what its evolution may be, there is no cure. In Mothers Today we want to invite you to reflect with us on this problem: the need to give more voice to people, to children with rare diseases.

Rare diseases: being a thorn in an ocean of water

We consider a rare disease when a child comes into the world with a disease, disorder or disease, which only 1 in 2.000 people suffer. They are, so to speak, little thorns in calm oceans of water. They become very particular realities that oblige parents and their doctors to have to look for references, information and support to be able to provide the best care to that child who, above all, deserves to have a good quality of life.

To become a little more aware of rare diseases, it is necessary to take this information into account.

• Although at first glance it seems very unique to hear about diseases such as Ondine Syndrome, we must bear in mind that In Europe alone, more than 30 million people suffer from some type of rare disease.
• According to the World Health Organization (WHO), about 500 million people in the world suffer from some type of rare disease and many others could be suffering it without knowing it.
• The illness, the pain, the isolation, the fear and the uncertainty do not seem only the child. Families are also an extension of these patients, with which, the impact is much greater.
• Rare diseases do not usually present a single type of symptomatology, the most common is that it encompasses multiple ailments, alterations and problems, so that multidisciplinary care is neededr: doctors, physiotherapists, educators, psychologists, speech therapists, cardiologists ...

Rare diseases in children

If from our space we want to influence the problems of rare diseases in children, it is because of their greater vulnerability, and because In many cases, if they do not receive adequate care, medication and social support from the institutions, a part of these children do not reach adulthood.

• Most of the rare diseases are disease and degenerative. The lives of children are getting worse, with pain, isolation and high emotional suffering for families as they see how their children cannot have the quality of life that other children their age.
• In many cases, these children suffering from rare diseases end up suffering serious disabilities where they completely lose their autonomy.
• There are no effective treatments for these diseases. Most of the time, existing medications only slow down the process but never cure it.
• There are between 6000 and 8000 rare diseases.
• There are cases of children who cannot even receive a diagnosis because the causes of their problem are completely unknown.
• 75% of rare diseases affect children.
• 30% of children with rare diseases die before the age of 5 years.
• 80% of rare diseases have a genetic origin
• The rest of rare diseases are the result of infections and allergies that occur in most cases, during the first 5 years of life.

Most common rare diseases in children

• Fanconi anemia: It is usually diagnosed between 3 and 7 years and is characterized by a very serious anemia that causes the child to have serious maturational problems: short stature, low birth weight, malformations, small head and eyes, hearing loss ...
• Amyotrophic Lateral Sclerosis: it is a degenerative neuromuscular disease that entails great suffering and, unfortunately, a progressive decline with an almost inevitable death. There is paralysis, and the motor neurons lose function and become necrotic.
• Huntington disease: another disease with a clear genetic component for which there is no cure despite the years it has been appearing. It generates mobility problems, cognitive and psychiatric limitations and motor problems.
• Ulcerative Colitis and Crohn's Disease: They may not seem "serious" at first glance, however it is one of the most serious, painful and common autoimmune conditions among children diagnosed with rare diseases.
• Ataxia Telangiectasia: It is a very striking disease because children end up looking just over 8 or 9 years old, real old people. It is a genetic neurocutaneous disease where problems appear on the skin and in the central nervous system.
• Niemann-Pick: another disease as sad as it is painful. It causes an accumulation of fatty deposits in the brain, liver or spleen. The child does not develop as it should, has seizures, and cannot speak.
• Bullous epidermolysis: we commonly know it as «butterfly skin». It is a hereditary disease where the slightest friction with the skin generates wounds and blisters. The skin is lacerated, scars appear and even simple feeding generates great pain.

Rare diseases: the big ones forgotten by the pharmaceutical industries

As the "Spanish Federation of Rare Diseases" explains to us to the specific symptoms of each child, parents must face an environment that is unaware of this disease, where specialists do not have all the information and wheree they are forced to have to live an endless journey of hospitals, doctors and tests that is not always as satisfactory as one expects.

Now ... what is all this due to? Why are there no effective drugs available to at least "slow the progress" as has been achieved, for example, with the AIDS virus?

• There is no funding. Rare diseases are not always profitable for Big Pharma. 
• There is no legal cover to encourage genetic research.
• Research for rare diseases is not generally invested

What can I do if I have a child or family member with a rare disease?

The most important thing when we receive the news that our child suffers from a rare disease, is to mentalize ourselves with a purpose: offer him a good quality of life, fight for him, make its reality visible to generate that sooner or later, a drug is developed that can help our son or other creatures tomorrow.

Try to "live in the present" with your child by making him happy, integrating him in the world, in society, with other children, and making him participate in life as much as possible. A smile today is a positive emotion earned, and this is something that we must cultivate every day.

Something essential is have the support of institutions and organizations with which you will find information and advice. Therefore, do not hesitate to take into account these addresses of organisms in the matter of rare diseases.

• Orphanet is a multilingual reference portal on rare diseases and medicines on 6.000 diseases. It offers a wide variety of services: orpha.net
• PubMed gives access to biological science journals, and links to many sites with free articles: ncbi.nlm.nih.gov
• NORD, Rare disease non-profit organization dedicated to helping people affected by rare diseases: rarediseases.org
• Disease InfoSearch is an online search tool and database of genetic diseases resources: geneticalliance.org
• Genetics Home Reference provides information on more than 650 genetic diseases: ghr.nlm.nih.gov