3 ms·
I wish it was this easy. I am on permanent disability. I have PNP Deficiency which I discovered on my own through two genetic tests. https://rarediseases.info.
by FollowingTheDao 4y ago
I wish it was this easy. I am on permanent disability. I have PNP Deficiency which I discovered on my own through two genetic tests.
https://rarediseases.info.nih.gov/diseases/4606/purine-nucleoside-phosphorylase-deficiency https://rarediseases.info.nih.gov/diseases/4606/purine-nucle...
https://mayoclinic.pure.elsevier.com/en/publications/lupus-associated-functional-polymorphism-in-pnp-causes-cell-cycle https://mayoclinic.pure.elsevier.com/en/publications/lupus-a...
https://www.researchgate.net/figure/Purine-nucleoside-phosphorylase-PNP-rs1049564-variant-enzyme-activity-and-mRNA_fig2_319408659 https://www.researchgate.net/figure/Purine-nucleoside-phosph...
I suffered for years with a mood disorder which made them think every thingw as all in my head. I have consistently low WBC counts and not one doctor care sto look into it. I have an immune deficiency but all they see is the mood disorder brought on my the same gene polymorphism.
https://link.springer.com/article/10.1007/s40263-022-00934-0 https://link.springer.com/article/10.1007/s40263-022-00934-0
https://link.springer.com/article/10.1007/s10875-011-9593-8 https://link.springer.com/article/10.1007/s10875-011-9593-8
Thanks for that link to Dante, I might do it since it has PNP on their list.
But I have found that very high dose zinc increases my WBC and I think it is because it helps stimulate PNP
https://pubmed.ncbi.nlm.nih.gov/1906845/ https://pubmed.ncbi.nlm.nih.gov/1906845/
https://academic.oup.com/nutritionreviews/article-abstract/42/8/279/1892606?redirectedFrom=fulltext https://academic.oup.com/nutritionreviews/article-abstract/4...
But no one gives a sht about freaks like us. If they invested $100k when I was first sick they would have saved the 20 years of money they gave me for diability. It is so idiotic I hate it.
- janeway 4y agoWell I spend my life dedicated to “freaks like us”. For every one person who takes years to diagnose, there will be 100 in future that we can instantly treat. (1) it helps people who need it, and (2) it can unlock new mysteries of biology that we may never discover using traditional incremental biology. Best wishes.
- FollowingTheDao 4y agoWhy don’t you study me?
- chromatin 4y agoHello fellow genomic medicine specialist =)
- chromatin 4y agoHi: > But no one gives a sht about freaks like us. we do, but the system makes it hard for us. Did you have pan leukopenia, or were specific cells (e.g. Neutrophils) decreased? I am thinking of a young lady I saw recently with bipolar disorder and unexplained neutropenia as a consult.
- FollowingTheDao 4y agoOh, my, yes, constant neutropenia neutropenia as well. Even with good copper levels. No one understands, probably except for you, that bipolar disorder is an immune dysfunction and not fundamentally a neurological problem for most of us. And as I do, I looked up neutropenia and bipolar disorder and saw that most of the cause of neutropenia in bipolar patients is caused by medication. Fock the system. I am proud of you that you’re seeing through it. You gave me hope.