By Janco’s Mom
Imagine starting the day as usual with a healthy, happy child in the home. You are going for a visit to the paediatrician because you noted that your 3 year old son bruises easily and Doctors want to confirm that he is not a bleeder. Nothing out of the ordinary, I mean a young boy is normally very active and would at most times have some bumps and bruises. An hour after being at the Dr, they phone back saying that your son needs to be admitted to the hospital in the next hour because his platelet count is 10 (where it should be 137-373) and he is in danger of
spontaneous and uncontrollable bleeding.
From the parent’s perspective, this is the start of a week in hell. It is a mad rush to get to the hospital, little sleep and an overwhelming amount of hard to understand information that is shared. It means numerous tests and X-rays done and blood samples taken. To top it off it means a platelet transfusion and bone marrow biopsy is done. Then being told the unthinkable news about a rare disease you have never heard about. All of this is handled pretty well by a child that has never really been sick and now is isolated in a strange room (with his mom) connected to a drip and with nurses with needles and heart rate monitors appearing almost every hour. Janco was diagnosed with severe aplastic anaemia in July 2017–he had about 5% bone marrow function and his platelet level has varied from 9 to 20 since then.
His white cell count is also very low meaning he has very poor immune system. He was taken out of school due to his high risk of infection and Bonita had to stop working to take care of him. All of this is handled pretty well by a child that has never really been sick and now is isolated in a strange room (with his mom) connected to a drip and with nurses with needles and heart rate monitors appearing almost every hour. Janco was diagnosed with severe aplastic anaemia in July 2017–he had about 5% bone marrow function and his platelet level has varied from 9 to 20 since then. His white cell count is also very low meaning he has very poor immune system.
He was taken out of school due to his high risk of infection and Bonita had to stop working to take care of him. He was later diagnosed with Fanconi anaemia in September 2017. #FanconiAnaemia is a rare inherited disease that is characterized by bone marrow failure and incomplete or missing proteins responsible for repair of mistakes in DNA during cell division. Because of this lack of DNA repair, damage to DNA progresses leading to a high risk of cancer. We went to see #Haematology and transplant specialists and signed up to start the search for a compatible bone marrow/stem cell match. If he could get a perfect match stem cell transplant, he could have a relatively normal life, however the high cancer risk would remain. Unfortunately as at 29January 2018, we have not been successful in finding a matching stem cell donor.We are taking it day by day and can only hope and pray that a perfect match can be found.