I talked to Dr. Sidransky at the NIH, and she sounds like a very impressive and passionate doctor. She has been studying GD2 and GD3 for many, many years. They really want to see Hannah since she this new mutation is pretty rare and never seen in combination with the 84gg. Because the D409H carries […]
[Continue reading...]So, where do we go from here…
2 Apr by
I have so much going on right now that even slowing down to try and think of it all, my head is going to melt down. So, I’ll just throw them out there. 1. Because Hannah’s mutation combination has never been seen before, there is no way to determine if she is type 2 or […]
[Continue reading...]Niemann Pick Type C Treatment Could Deliver AIDS Breakthrough
2 Apr by
I am so proud of Chris and her girls! Chris, you are still and always will be my supermom mentor! We love you guys! Rare Disease Treatment Could Deliver AIDS Breakthrough Thursday, April 2, 2009 OAKLAND — At Children’s Hospital in Oakland, researchers searching for the cure to a rare disease afflicting a pair of […]
[Continue reading...]Improved Metabolic Correction in Patients with LSD Treated with Hematopoietic Stem Cell Transplant
2 Apr by
Improved Metabolic Correction in Patients with Lysosomal Storage Disease Treated with Hematopoietic Stem Cell Transplant Compared with Enzyme Replacement Therapy Robert F. Wynn, MD, J. Ed Wraith, FRCPCH, Jean Mercer, Anne O’Meara, FRCPI, Karen Tylee, BSc, Margaret Thornley, Heather J. Church, PhD, Brian W. Bigger, PhD Received 22 July 2008; received in revised form 12 September 2008; accepted 3 November 2008. We […]
[Continue reading...]Be careful what you wish for…
1 Apr by
Remember last week I said I wasn’t sure if I wanted to know the results of Hannah’s DNA sequencing? I guess “someone” heard me because, according to Dr. Schiffmann, one of the top GD23 neurologist, there is NOTHING in the literature that matches Hannah’s DNA mutation combination. NOT ONE PATIENT! He is going to ask […]
[Continue reading...]DNA Sequencing Results in but…
1 Apr by
So the DNA sequencing results are in. Hannah’s genetics doctor couldn’t give us a “type”, however. She did give us confirmation of the first DNA mutation and gave us the second mutation as well. I’ve sent those off to Dr. Schiffmann, Hannah’s neurologist, to see if he could give us a “type” and the prognosis […]
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