Re: Digest Number 3028

[Guest guest]

Suzette,My names is Anne J. I don't post very often anymore. However, I saw your post and wanted to respond. I assume when you are giving those numbers you mean to have a decimal point in there so that her hgb was 4.5 and 4 respectively. This also happened to my now 7 year old when he was 2. For his first 2 years he was never even anemic and then over the course of a weekend his hgb dropped from 11 to 5 2 days later without any bleeding. he was admitted like your daughter and before they did the transfusions they did a bone marrow biopsy. Did they do one on your child? The results showed vacuoloizations of the marrow which in essence means empty spots where all the new red cells should be. he was not making any new red cells anymore and that was why his hgb dropped so fast they tell me. He also had ringed sideroblasts which means he was not iron deficient but in fact had rings of iron around his red cells. This is classic for Pearson Syndrome - a type of mitochondrial disease that causes bone marrow failure. The odd thing is that when he had the blood work done for Pearson Syndrome it was negative. However, since he already had a diagnosis of complex 1 and 4 defect in OxPhos they still refer to him as having "phenotypic Pearson Syndrome" which means that he has all the signs and symptoms but not the gene alteration that supposedly causes it. if I can remember now the initial tests were the biopsy and a reticulocyte count. if the retic count is low when the hgb is low this also indicates that the body is not making red cells. They did the typical DIC screen to see and looked for hemolysis (was he making the cells but breaking them down). he did not have that at the time. They also looked to see if his kidneys were the problem because the kidneys make something called aryhtropoiten. This is released by the kidneys and prompts the bone marrow to make new red cells. if the kidneys are not making it (a simple blood test will answer the question) then a synthetic form of Eryhtropoiten can be given as an injection multiple times/week called Epogen. In Sam's case his kidneys were making the eryhtropoiten in very high amounts but his bone marrow was/is just unresponsive to it Treatment for Sam has been blood transfusions whenever his hgb drops. Initially he was able to get away with needing a unit only once a month. He is 7 now and needs them more often but that is because he has bleeding and hemolysis issues that have developed. later his platelets and white cells became a problem too. They were not a problem initially. He gets platelet infusions now too. My older son has the same -he is 12 and it started when he was a preschooler but he did not become red cell dependent until he was 7. For him it has not been as severe so if your daughter does have the bone marrow failure of mito - please know that sometimes it is a milder issue. My older son only needed blood every 2-3 months for years and even now it is still at only once a month. His platelets are still being made on his own and though his white cells are lower they are adequate. All of this certainly points to the great gift of donating blood doesn't it? My children would not be here were it not for the tremendous gift they get from blood, plasma and platelet donors. If I can answer any more questions let me know but please put Anne J in the heading since I don't get to the digest every day anymore. Anne J----- Original Message ----- -------Original Message------- Good evening all! Hope all is well on your end. We just met with a new doctor last Thursday who requested a slew of bloodwork, however, when we got home the doctor's office called and said they forgot to request a CBC so we went to the lab the next day to give one more vial of blood. AT approximately 9:00 pm on Friday, the children's hospital calls to tell us to bring Kayla into hospital as her hemoglobin dropped to 45 and by 12:00 that nite, she dropped to 40. We ended up spending the weekend watching her go through two blood transfusions and still no answer as to why this was happening. It brought her hemoglobin up to approx 60-70 but they still could not answer what or why. This leads to a couple questions for anybody that can answer them or have any thoughts:1) Do any of your children face the problem with chronic anemia?2) Is this chronic anemia a Mito problem or is it something totally different?We are just beside ourselves; I just resigned from my job so Kay is not left at home alone anymore and to relieve my 11 year old from the responsibility that we put on her little shoulders.You know, when I read some of your stories I feel that Kay is not that bad at all and that is why I do not come on line much as I feel I am just whining and wasting peoples time. So on that note, thank you for your time and listening to a worried mom and dad.Suzette