A little information on Diamond Blackfan Amiema & Jakey

Diamond Blackfan Anemia, affects between 600-700 people in the whole world and is named after the Dr Diamond and Dr. Blackfan in 1935. The condition is a congential disease or can be caused by mutation in the gene encoding ribosomal protien S19 on chromosome 19 or chromosome 8. Most cases of DBA occur randomly. 10% are autosomal dominant or (less frequently) autosomal recessive.
Patients with DBA are at a higher risk rate of Leukemia and hemolytic malignanicies than that of the general population.
Most patients with DBA are diagnoised by their fisrt birthday. A nd in rare cases this can go undiagnoised untill it manifestes itself in early childhood.
DBA is where no or little red blood cells are produced by the bone marrow. The symptoms are hard to diagnosis due to the rare illness, Children will appear pale, fatigue, irritability, and even fainting. All common signs of everyday Anemia.

What have written is in no way to be used for medical reference.

Jake still has a irregular heartbeat due to the heart trying to keep thr oxygen moving throughout his body, but this is not as bad or as life threatening as it was when first admitted, And he has great doctors and nurses who are always checking him every week we are there.

Jake has been started on his first course of treatment, Which is predisolone at 20mg per day they started jake on this when his levels reached 8, as they suggested this would be the best time to try him, as he his Hb drops so quickly, and they didnt think he would reach 10. He has now been on the course for 5 weeks and as of yet it hasnt made any sign of working, and he has still had to have a transfusion, to push his levels up. But to say at his last appointment it had gone up by 0.2, which his specialist said wasnt enough to say it was working, to me Im holding onto hope that it is. But this wednesday coming the 17th we will know 1 way ot the other, if its working then we have a long wait to see if he can substain on it, and then battle all the side effects. Jake is having to have weekly gulcose tests to check for diabetes as this is a side effect to the drug. His levels go and down, but so far so good. And he is also piling the weight on, he is getting what you would say a moon face. x

Jake has to weighed and measured frequently as another side effect is weight gain and can stunt maturity growth. Another side effect jake has but I would'nt say serious is hungar, he is hungry all the time, we are lucky that jake likes healthier food he isnt as interested in sweet things, except skittles but only the purple ones. x

So I hope this helps a little to understand a little more about Diamond Blackfan Aniema and alittle more about Jake. I will add updates and more information as we get it. I also think this is helping me understand more too. So thank you for letting me share.

In the words of jake Bee Happy
Jakes biggest strength is his happiness, he can always smile no matter what.