Dave has just been diagnosed with a newly discovered disease caused by a recently discovered gene mutation. NIH had suspected this as Dave’s history was exactly like the others in the research study, and they confirmed it Wednesday. There is no treatment for this except high dose steroids, which have had significant negative impact in on the the 25 people in the cohort. A paper on this will be published soon in The New England Journal of Medicine. So the disease has a name, we just can’t tell you yet. Dave will lobby after his successful recovery , to rename it “Gould Syndrome”.
This explains all of Dave’s symptoms: Swelling, rash, fevers and bone marrow failure. (MDS symptoms )
We learned just in time that the planned chemo would not have worked, and may have caused a serious negative reaction.
We just got off off a WebEx with different specialists at at NIH and Dave’s transplant doctor at Emory for them to discuss Dave’s treatment plan. All agree that he needs a bone marrow transplant and that it would be best to do it as soon as possible. Dave is ready to get the healing started and is super positive going into the treatment.
We feel so grateful that he got connected to the right people at NIH, that he skipped unnecessary Chemo, (saving four months off of the healing process) and that all the doctors are working together and in agreement.
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