Recognize the diagnosis

Recognizing the diagnosis is the path to this is long and difficult if we are talking about orphan (a rare) disease. Without a diagnosis, it is impossible to prescribe a treatment that will deal not only with the symptoms but with the cause of the disease. For 7 years, doctors have not been able to determine what is the root of the ills of 7-year-old Andrii: developmental delays, problems with blood vessels, joints, and heart. To confirm the diagnosis, you need an expensive laboratory test in Germany. 

For 5 years, the charity foundation Pomogaem has been supporting the family of Andriiko Mayorov from Kamianske. Andrii was a long-awaited and very welcome child, but, unfortunately, like Vika’s eldest daughter, he was seriously ill. He was born on the 34th week of pregnancy. The first days of his life began with a brain hemorrhage; month baby stayed in the pathology of newborns. Finally, he was discharged with diagnoses: necrotizing enterocolitis, a cyst in the brain. At that time no one suspected that new and new names of diseases would be added regularly to the baby’s card.

Autism was established when a serious developmental delay became apparent. The teachers with Andryusha had a hard time: the boy had bouts of aggression in the garden, and his mother had to work: besides her, there was no one to provide for the children. Other symptoms were also found: excessive mobility of the joints, vascular fragility, frequent bleeding. All together gave a picture characteristic of some genetic disease. Unfortunately, genetics is not the strongest side of our medicine. Still, the orphan diseases center in OKHMATDYT, on the basis of analyzes, diagnosed Ellers-Danlos syndrome, the type requires clarification.

The Andrii's illness is progressing: his heart is aching, his legs hurt, his joints swell. Sometimes he pulls the leg: the muscles weaken and do not allow to walk normally. The boy barely speaks, intellectual development remains at the level of 3-4 years. In order to treat Andrii and see the result "on all fronts" (with physical condition and intellectual development), we need to contact foreign clinics. And this requires an accurate genetic diagnosis, which can be established only in the laboratory of Dr. Rydger. The procedure itself will be carried out in the Dr. Rydger laboratory in Kiev, and the material for further analysis sent to Germany. The cost of this study is 49 920 UAH. Let's do everything to finally diagnose Andrii, and the boy received adequate treatment!

Name: Mayorov Andrii, 09.09.2011

City: Kamianske, Dnipropetrovsk region

Diagnosis: atypical autism, vascular malformation, connective tissue dysplasia, Ellers-Danlos syndrome, which requires clarification