Every year our children are forced to fly to federal centers for examinations. Some do it once a year, some every quarter, because there is little practice in managing rare genetic diseases within the region. Unfortunately, so far only federal centers have gathered doctors and created all the conditions for studying rare diagnoses. It is there that a more accurate selection of timely therapy takes place, planned operations are carried out, missing papers are issued that determine the quality and duration of the child's life.
Today, rare Dasha and Lera are preparing for such examinations; flights to Moscow have become an obligatory part of their lives. Lera lives with tuberous sclerosis, which forms tubercles (benign formations) on the internal organs, and they in turn complicate the body's work and do not allow epilepsy to go into remission.
Dasha lives with an ultra-rare mutation DDX3X, which entails many complications with immunity, development, heart, and physical condition. There are 16 children like her in Russia, and the further they live from the center of the country, the harder it is, because the health care system knows practically nothing about such a disease.
A meeting with federal experts for the wards of the Rare Children Foundation is a chance to get data with which we can improve rare life within the region. The girls should fly to get such data in April.
Friends, we ask you to help pay for air tickets for the rare girls and mothers who will take them to Moscow. Both girls have developmental, behavioral, and immune system peculiarities, with which it is impossible to travel by train. Your help has repeatedly helped us and helped us solve various problems, we believe that now you will be there.
