There was a Q&A with Dr. S and Dr. H after their talks. These are my notes from that Q&A session.
I have written down “del 7q is serous” here was mention of del 20q and how it is not as serious as the other clonal abnormalities.
A question came up of using dedicated donors when our SDS kids need transfusions of red cells and platelets. Here is what I wrote down from their answers:
Dedicated donors: DO NOT USE FAMILY DONORS! Relatives as donors increase the risk of graft rejection post transplant.
Donor drive donors have been shown to have a higher risk of infection—volunteer donors are best. When people are *forced* to donate blood products, say because of a co-worker doing a drive, they feel as if they have to give –and will go with infections, etc…..
Random pooled platelets? Or Pherised (sp) platelets to minimize donor exposure? This is becoming less of an issue with newer techniques. Data doesn’t necessarily support this.
Female bone marrow donors—pregnancy (number of) makes a difference—more antigens— if all things are the same in two donors except one is male and one is female w/ pregnancies, they would choose the male.
HLA Loci are located on Chromosome 6. Parents are unlikely to be a match (less than 1-2% chance that parents would be an HLA match for their children)
Growth hormone studies. There are no studies showing increased risk. Talked about the possibility that high doses might have increased risk, but that there really are no studies. There is no data on GH in SDS. Dr. Durie weighed in and said that SDS is a chondrodysplasia meaning that growth plates do not behave themselves & may result in premature fusion of the growth plates (if GH used) no real data, of course & he said that he was very conservative…if the SDS patient was TRULY GH deficient, then he may try it.
For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America