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Old 06-24-2018, 08:23 PM
  #9  
Excargodog
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Originally Posted by Pilot Muscle View Post
I don't think that would apply to me in this situation because PNH is acquired, not hereditary.

Possible but unlikely:

Paroxysmal nocturnal hemoglobinuria (PNH) was previously classified as purely an acquired hemolytic anemia due to a hematopoietic stem cell mutation defect. This classification was abandoned because of the observation that surface proteins were missing not only in the RBC membrane but also in all blood cells, including the platelet and white cells.

The common denominator in the disease, a biochemical defect, appears to be a genetic mutation leading to the inability to synthesize the glycosyl-phosphatidylinositol (GPI) anchor that binds these proteins to cell membranes.[4, 5, 6] The corresponding gene PIGA (phosphatidylinositol glycan class A) in the X chromosome can have several mutations, from deletions to point mutations.[7]

Due to its location on the X chromosome, and X inactivation in female somatic cells, only one mutation is required in either males or females to abolish the expression of GPI-linked proteins. Most type II PNH cells (total lack of GPI-linked protein) are due to a frame shift mutation occurring in the early hematopoietic progenitor cells, resulting in the same mutation in all blood cell lines.

......

That isn't my opinion, it was shamelessly plagiarized from medscape.

The point is, this isn't something your local internist or even hematologist handles enough to really be up on. You need to go to someplace like Hopkins to get state of the art treatment. Assuming the diagnosis is correct, they are most likely going to recommend the eculizumab. Some people tolerate that well. Some people don't. For most people that arrests progression of the disease. For some it does not.

You aren't going to know until you are appropriately treated and the FAA isn't going to waiver you until you are appropriately treated AND get a good result. Right now you and the FAA both want the same thing. Go to Hopkins.
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