Fighting genetic diseases with transfusion, bone marrow transplant
four weeks for life; the procedures cost about $50,000 a year and pose their own risks, especially a dangerous buildup of iron.
A bone-marrow transplant after birth can cure the disease, but only if a matching donor is found. The transplant also has dangers, and costs about $150,000.
Many obstetricians do not even tell patients about transfusions, Mackenzie said.
“Everyone now is told to abort,” said Dr Elliott Vichinsky, one of her research partners and the founder of the Northern California Comprehensive Thalassemia Center at the UCSF Benioff Children’s Hospital Oakland. “We understand families should make that decision if that’s right for them. We’re just saying they should be given the information that there are other options.”
Some doctors are wary of transfusions because they think that even if the child survives, there is still too high a risk of significant brain damage. A report last year on an international registry of survivors found that 20 per cent (11 of 55) had serious delays in their neurological development. Another article found delays in 29 per cent (4 of 14).
Mackenzie and Vichinsky said they did not try to discourage parents who preferred abortion. But some parents would rather avoid it.
“These are not unwanted pregnancies,” Mackenzie said. “We’re as pro-choice as you get. These are wanted pregnancies for whom therapy could be offered. And you can have a choice to terminate or you can have a choice to have therapy, but the bottom line is you have to be given those choices. And we recognise that’s a very personal choice, but we as doctors need to be providing you with those choices.”
Obar’s genetic counsellor mentioned termination — but also transfusions. She and her husband chose transfusions.
The counsellor also described Mackenzie’s study. The chance that the transplant might help their daughter appealed to them, though they understood that it was an experiment and that there were no guarantees. At this early stage in the research, the primary aim of the study was to find out whether the treatment
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