Diana Tuezova

7 years old, Krasnodar
Diagnosis: Combined primary immunodeficiency: Comel-Netherton syndrome.
8 vials of Omalizumab 150 mg (a 2-month supply) was purchased for an amount of 180,000 rubles.

Story

Diana Tuezova was born on June 12, 2005. At birth, she was diagnosed with ichthyosiform erythroderma of Brocq (a congenital skin defect, resulting in serious impairments of its basic functions). This disease makes skin red, edematous, dry, and peeling off, as in severe burns. Since the first day of her life, Diana was being treated with hormonal agents, but they didn't help at all and only worsened her condition.

At 3 years, Diana was still running about on the playground in her hometown of Krasnodar. But at 6, she was already unable to walk. Adrenal glands were failing, bones were getting broken, skin was peeling off, not able to protect against infections. The girl was frequently falling ill with acute respiratory viral infections, in addition, problems with the gastrointestinal tract were found. The list of her diagnoses did not fit into one page, but the only correct one wasn’t on it. Various doctors in Russia were consulted within several years, but all of them blamed the girl’s disease diagnosed at birth. As a result, loss of movement and speech was finally observed.

By August 2011, with the help of volunteers and philanthropists, Diana’s family raised funds for a treatment in Germany. An appeal from Diana’s parents appeared in the media, on forums and on the websites of various charities. People from all over the world responded, and Diana Tuezova left to the Munich clinic, where she was diagnosed with Comel-Netherton syndrome on the very first days of a survey. A combined immunodeficiency was found: the syndrome mentioned above, persistent foramen ovale, developmental disorder, and also intermittent hypertension, adrenal cortex insufficiency, exogenous Cushing's syndrome, osteoporosis, cataract, and salt-losing tubulopathy, caused by the use of hormonal agents. Diagnosis, given in the University of Munich Hospital, was confirmed by genetic studies and differs from the diagnosis she lived with in Krasnodar for 6 years. Diana was provided with a specialist who had an extensive experience in the treatment of ailments such as hers. A comprehensive treatment was immediately applied, and the results didn't take long to show up: the skin has improved significantly, and Diana has been able again not only to walk, but also to run.

Smiles of the doctors, efficiency, cleanliness, special bed clothes for Diana not to wake up at night in pain, ointments preventing infections from penetrating through the skin - this is not yet a complete list of wonders the girl and her mother enjoyed after going through all the circles of hell which domestic medicine really was. Going home, the girl’s mother took a suitcase full of medications not available in Russia. But most importantly, Diana was leaving the clinic walking by herself!

The girl is in Russia now and is under medical supervision at the Department of Clinical Immunology of the FRCC-PHOI. After numerous torments Diana is prescribed with an adequate drug therapy, but the government will supply her with immunoglobulin only. The girl’s family is experiencing great difficulties with acquiring the medications, necessary for the administered therapy and daily care for the child. The reality is that the supply of these drugs depends on responsive people like you.