Congenital amegakaryocytic thrombocytopenia is a rare disorder characterized by a low number of platelets in the blood.
We have a son who turned 5 years old in January. At the age of 9 months he presented with abnormally low platelets on routine lab work. We saw hematology for 3.5 years and no treatment was done. His platelets never dropped quite low enough for transfusion and he never had symptoms. In December of 2014, Whole Exome Sequencing found that he had CAMT. He received his stem cell transplant on 8/20/15 so we are about 6 months post transplant. His counts look great and we are hoping that he will be able to resume normal activities and be around more people soon. His immune system is still pretty weak. He had the less severe type of CAMT.
My wife and I had a daughter in March 2015. She was admitted to the hospital for jaundice. When they did the CBC on her, she came back with low platelets and was in the hospital for a few days and finally received a platelet transfusion. We did followed with a hematologist for a couple months before she was finally diagnosed. She's now 6mo and is receiving platelet transfusions every 2 weeks while she waits for a bone marrow transplant in March/April.
Our daughter was born prematurely at 24 weeks due to placental abruption. After about 4 weeks in the NICU, she began to present with extremely low platelet counts (17) but because always transfused, we never knew her true platelet levels. A bone marrow sampling revealed she had no megakaryocytes. She passed away after her PDA ligation, but the genetic testing revealed she did carry only one mutation for CAMT. They believe the other mutation may have been located on an intron or deleted genetic material. We have found that I carry the mutation she had. We are now in the process of IVF with PGD to have a healthy child. Would love to share stories with others who have experienced this condition.
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
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After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
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