Lack of psychological support

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Difficulties in making a correct diagnosis. Only sometimes the symptoms of the disease allow you to quickly identify the source of the problem. For example, in the case of reticulocytoma (an intraocular cancer of the eye that occurs in children), a disturbing signal is the so-called “Cat’s eye”.

Professionally called leukocoria, it can be noticed when taking pictures of the face, when instead of a black pupil appears white spot.

What are orphan drugs?

Medicines used to treat rare diseases are known as “orphan medicines”. This unusual name was created in the XIX century. It was first used by pediatrician Harry Shirkey in 1968 to draw attention to the lack of interest of pharmaceutical companies in the manufacture of drugs whose safety and effectiveness would be confirmed in children. In an article published by himself, he referred to the youngest patients – perversely – as “therapeutic and pharmaceutical orphans”.

After this publication, others began to describe diseases or therapies that were characterized by rarity and low economic potential in the same way.

Why” orphan drugs ” are difficult to access?

To date, the lack of cost-effectiveness of the development and production of a drug that could potentially benefit a very small number of people is a fundamental problem. Such drugs, if they already appear, are very expensive. In January, nusinersen, a unique drug that can be used in patients with spinal muscular atrophy, was added to the list of reimbursable medicines. This is one of the most expensive drugs in the world.

Lack of mental support for patients with rare diseases

Lack of mental support for patients with rare diseases

Another difficult aspect of the daily life of patients is the need to mentally cope with the situation in which they find themselves. Patients with rare diseases need not only adequate health care, but also full social support. Empathy should be shown towards people who are faced with an unusual diagnosis, often without offering therapeutic options. Most rare diseases cannot be cured, but symptoms can be controlled, slowed down or prevented.

Life with “judgment” is extremely difficult. Patients struggle with feelings of disappointment, regret, helplessness, anger and great fear. In such situations, the help of a psychologist is invaluable.

In general, the whole family is involved in the survival of the disease-often primarily the parents of the sick child. They often become medical experts in areas related to the disease. They show steadfast perseverance and strength-they set up support groups and maintain active contact with other patients, promote knowledge about the disease, follow scientific reports from around the world, and even look for sources of funding for research on new drugs.

People with rare diseases are among us

Patients have to tell us poignant stories of struggle for health and normal life. Recently, a lot has been said about the model Melanie Gaydos, who, despite the face-distorting rare genetic syndrome (hypohydrotic ectodermal dysplasia), successfully makes a career in front of the lens, breaking all stereotypes associated with beauty.

Another example is the cyclist Tom Staniford, who suffers from MDP (underdevelopment of the mandible, deafness and progeria), one of the rarest diseases in the world, which has so far been diagnosed in only eight people. Patients with this syndrome do not store any fat in the body.

“Progeria” is a reference to another rare disease-progeria. It causes an extraordinary acceleration of the aging process. Patients suffering from this disease in one year “grow old” by about 8 to 10 years, living on average only up to 13. one year old.

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