Schwachmann Diamond Syndrome is already an indication for bone marrow transplantation, and MDS means that a transplant is necessary as soon as possible.
We want to contact you for help. We live in Khakassia in the city of Sayanogorsk. Our daughter Angelina is now was born on November 27, 2017. She is a very cheerful and sociable child, despite the fact that she has experienced a lot during her short life, she loves to collect pyramids, leaf through books, and draw.
From birth, Angelina gained weight very poorly, at three months the baby's liver counts increased significantly. Tests also showed anemia and a decrease in platelet count, and atopic dermatitis was diagnosed. We spent most of daughter’s life in hospitals, doctors’ attempts to find out what happened to our child for a long time were unsuccessful. At the end of 2018, when Angelina was a year old, we were sent to Moscow to the National Medical Research Center for Children's Health. There we heard a terrible diagnosis, the baby discovered a rare genetic disease - Schwachmann-Diamond syndrome. In a nutshell, it is expressed in a serious disruption of the pancreas and bone marrow. Gene mutation causes a delay in development, leads to serious hematological changes, and ultimately to the death of the child.
After that, Angelina and I were transferred for additional examination to the Center for Pediatric Hematology, Oncology and Immunology. D. Rogacheva. Here a new blow awaited us: the child was diagnosed with another fatal diagnosis - myelodysplastic syndrome (MDS), a preleukemic state. Schwachmann Diamond Syndrome is already an indication for bone marrow transplantation, and MDS means that a transplant is necessary as soon as possible.
It is ready to hold in St. Petersburg at the Research Institute of Pediatric Oncology, Hematology and Transplantology. R.M. Gorbacheva. Angelina has no siblings, so the only hope of finding a 100% compatible bone marrow donor is donor registers. To our great happiness, a compatible donor for Angelina was found in Russia. But his examination and the collection of stem cells for transplantation cost quite substantial (at least for us) money - 350 thousand rubles. There are no such means in our family, only my husband works as a machinist at a coal enterprise, I look after the child. Therefore, we ask for help from you, we ourselves can not cope. Now Angelina is on maintenance therapy, but it is difficult to say how long the drugs can restrain the development of the disease, she can go on the offensive at any time. We have almost no time.
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