Hacettepe University Head of Department of Pediatric Nephrology Prof. Dr. Rezan Topaloğlu and President of the Cystinosis Patients Association Gülnur Gökmen made important warnings for cystinosis patients and their relatives.

Stating that cystinosis is a hereditary disease, Prof. Dr. Rezan Topaloğlu said, “Children with cystinosis usually do not present any symptoms at birth. A finding may not be noticed for up to six months. The most important symptoms noticed by families after six months are; loss of appetite, stagnation of growth, inability to gain weight, weakness, frequent urination and drinking a lot of water.” said.

Cystinosis causes big problems if diagnosed late

Stating that cystinosis is a genetic disease and it is more common in children of consanguineous couples, Prof. Dr. Rezan Topaloğlu said, “If the parents are carriers, the child has a ¼ rate of being sick. This possibility can occur in any pregnancy.” made a statement. Stating that children with cystinosis take too many drugs from infancy, Prof. Dr. Rezan Topaloğlu said, “The obligation of individuals with cystinosis to take too much medication at regular intervals brings a great responsibility to both children and families from an early age. Children with cystinosis need to take lots of medications throughout the day. Cystinosis patients, who are partially cured, are luckier than people with many genetic diseases. Because although the treatments do not completely cure the cystinosis disease, they have a very beneficial effect and this situation has not been achieved in many genetic diseases.

Stating that the early diagnosis of cystinosis disease is difficult because it gives similar findings to many diseases, Prof. Dr. Rezan Topaloğlu said, “If cystinosis is diagnosed late, it causes big problems. Because the protein we call cystine, which we do not want in the body, accumulates in all cells. Cystine accumulates in the kidney, eye, other internal organs, liver, and bone marrow and can cause severe symptoms. At the beginning of the first findings; Individuals with cystinosis have delayed growth, weight gain, and height gain or lag far behind their peers. Despite treatment, this problem of not gaining weight and height is always seen in individuals with cystinosis, but this problem becomes much more evident in people who cannot or do not receive treatment. made a statement.

Renal involvement is inevitable in cystinosis patients if the correct treatment is not received.

Emphasizing that kidney involvement is inevitable in cystinosis patients, even if it is diagnosed early, if proper treatment is not taken, Prof. Dr. Rezan Topaloğlu said, “There are many different ailments in patients who are not treated or who do not receive proper treatment. Kidney failure is seen up to the age of ten in children with cystinosis who cannot be diagnosed and treated correctly. When kidney failure is seen, children with cystinosis need dialysis or a kidney transplant. Since the disease causes the accumulation of crystals in the eyes, major problems can be experienced in the eyes. Redness, burning, and then visual disturbances occur. “Due to the accumulation of cystine in the thyroid gland, the thyroid glands cannot function. This condition must be treated. Because if it is not treated, this time, the intelligence development of children can be impaired, since thyroid hormone is deficient this time. If cystine accumulates in the bone marrow, the bone marrow cannot produce enough cells because the normal function of the bone marrow is impaired. The liver may be involved. Muscles may be involved. There may be a seizure in the brain. That’s why we call it a disease with multi-organ involvement. Renal involvement is prominent in the early years. We need to keep in mind that all other organs are involved, including the eye, at later ages.” saying

Emphasizing that cystinosis is a disease that requires lifelong treatment, Prof. Dr. Rezan Topaloğlu continued: “Cystinosis is a genetic disease. In other words, it does not go away after a certain period of time with medication, such as pneumonia. Genetic disease is a lifelong disease. Fighting cystinosis for him
While doing this, you should not fight with cystinosis. Cystinosis also has a specific treatment of its own. This cystine binds to the accumulated cystine crystal, which we do not want, and allows it to break down and be thrown into the cell from where it accumulated (lysosome). Since this is a genetic disease, it cannot provide 100%. However, to a large extent
it succeeds. We know that patients who apply the treatment properly do not go into kidney failure until their 20s or even later. We have patients who are 25-30 years old and still have not gone to kidney failure. In this process, drugs should be used without getting bored. In addition, many studies on cystinosis in the world
is being done. There are treatments that will give hope for the future.”

Stating that cystinosis patients and their relatives, who are in the risk group during the coronavirus process, should definitely avoid crowds, Prof. Dr. Rezan Topaloğlu said, “Cystinosis patients and their relatives should try to spend time at home during this period and should not go out unless it is urgent. Make sure to wear a mask when going out.
They should be worn, wash their hands frequently and pay attention to social distance.” he said.

We will draw attention to peer bullying with the Nadir-X comics project

Gülnur Gökmen, Chairman of the Cystinosis Patients Association, made important statements for cystinosis patients and their relatives. Stating that children with rare diseases can be bullied by peers in society, Gülnur Gökmen drew attention to the importance of this issue. With the unconditional support of GEN, together with the Cystinosis Patients Association, he announced that they aim to prevent peer bullying with the Nadir-X comic book project, which will be implemented this year to raise awareness about rare diseases.

Emphasizing that when children bring the facts into their imaginations through comics, they accept what is happening more easily and behave more sensitively than adults, Gökmen said, “With this project, he will uncritically admit why a friend of his who takes drugs with the children is doing this.
He will support his friends when needed. We live the biggest example of this in my son Arda. His friends remind him at medication time, as he knows and accepts my son’s cystinosis disease. This is a very positive turn. In fact, with the Nadir-X project, it is aimed to tell these differences to children together with stories and to help such rare children.
We aim to teach them that they can always be in their lives.” he said. Stating that children grow up with stories and they need to use stories in order to enter their imagination, Gökmen said, “We know that learning that life has different colors is more appropriate and more beautiful at this age. We are also aware that we can raise more positive and more positive people in a society where people who notice and learn about differences can accept all kinds of differences throughout their lives. The Nadir-X project is a very accurate way of accepting differences not only as patients but also for healthy people.
I think it’s a project.” said.

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