Site of parents of children with tyrosinemia
Answers on questions

What are the symptoms of tyrosinemia?

Answer: At birth, symptoms usually do not, but they appear quite quickly in the first few months of life, symptoms of tyrosinemia very diverse. Often, the child ceases to gain weight and become irritable. Other early symptoms include fever, diarrhea, nausea, liver enlargement, bruising, jaundice, nasal hemorrhages, rickets. Without treatment may develop life-threatening liver failure.

Is it possible to cure tyrosinemia forever?

Answer: No, but it is possible to control the level of tyrosine in body. To do this, you need to stick to for life low-protein diet and taking medication "Orfadin" blocking tyrosine decay before the start to stand out harmful substances that destroy the internal organs. And also need to take specialized medical mixture "Tirozidon" so that the child could receive the necessary amino acids for growth and development.

How much is the cure tyrosinemia and where to buy it?

Answer: Orfadin included in the list of vital and essential medicines, so its price In 2015, the marginal price of the drug reached about 923 thousand. Rubles per pack 10 mg (60 pieces per pack). For example, a child weighing 10 kg receives daily 10 mg capsule. Thus, one package at a dosage of 10 mg is enough for two months. The drug can not just buy at the pharmacy due to the rarity of the disease and the high cost of the drug.

A sick child in the country of treatment should ensure that state. Also this medication the child should be taken to the patient Tyrosinemia specialized treatment mixture "Tirozidon" worth about 20-25 thousand. Rubles for the bank. One bank contains 400 grams of Clinical Nutrition. One bank is enough for about 40 days for a child weighing 10 kg.

Why the drug so expensive?

Answer: tyrosinemia is a very rare disease. In Russia - about 20 patients around the world - no more than 200 patients. Efforts to clinical trials and production of drugs on such a small number of patients compels manufacturers to install such a big price for the drug.

If you do a liver transplant, then will it be possible to get rid of the need to take medicine?

Answer: After a liver transplant a patient's quality of life is much worse and the risk of complications increases. Yes, the new liver can break down tyrosine, but the kidneys and the nervous system of the patient stradat.Poetomu continue even after the transplant patient will need to take "orfadin." But following transplantation the patient can eat protein products.

Who should provide the patient Tyrosinemia medicine?

Answer: According to the federal law "On the basis of the health of Russian citizens' responsibility for the treatment of patients with rare diseases (otherwise even nazyvaayut -orfannymi diseases) falls to the regional authorities, namely the regional executive authorities (Ministry of Health or the regional committees or departments for the protection of health).

Can a patient Tyrosinemia lead a normal life?

Answer: Yes, the patient Tyrosinemia looks no different from a healthy person. The only difference - you need to take the medication and diet. The disease is not limited to physical or social activity. A child may attend regular kindergartens or schools. As an adult, the patient can start a family and give birth to healthy children.

Our child has recently been diagnosed. What should we do?

Answer: You have put the correct diagnosis - is already a success. Now that you know how to treat the child and relieve his condition. After all, not all the children, the sick Tyrosinemia, put the correct diagnosis. To make a correct diagnosis almost all the registered today 20 Russian children had come to Moscow. In the regions, their doctors misdiagnosed. Once you are diagnosed, you will need to mentally prepare for dialogue with the regional Ministry of Health. First, you need to contact the Regional Health Ministry and asked to provide your child's medicine.

Handle should be writing a formal letter, register it in the office and on the copy of the letter to take a number of the incoming mail. So you can later prove that really turned with the problem in the local minzdrav.V within 30 days after receiving the letter, the agency shall give an official response to your appeal.

Why has my child got sick Tyrosinemia?

Answer: Tyrosinemia develops when a child inherits a defective gene from both parents. A child who inherits napravilno working gene from only one parent becomes a carrier of the disease. These children do not have symptoms of tyrosinemia.