We need to jump ahead into the present day, being October 2018.
I am treading on new ground, that my Endocrinologist, Neurologist GP, and Cancer Dr have not seen
the ancient art of blood letting, or now called a Phlebotomy is used in only one disease.
I have primary progressive multiple sclerosis. This is not what they are using phlebotomy for. I was not expecting another diagnosis, or was I looking for one.
I have been on testosterone therapy for years now. A Endocrinologist was watching over me for also needing 150,000 iu a week of vitamin D to keep my numbers up. She had taken me off testosterone, to do a MRI of the pituitary gland, to ensure no tumor. Nothing was found. It was difficult on the mind to cold stop testosterone, for anybody thinking of stopping.
My blood, I've always been told it's thick, or large cells. I could not get my testosterone level up. My hematocrit and hemoglobin has always ran high for years. My heart Dr said, while sitting, it's like MS always has me running a marathon.
Many EKG done by other doctors, because of excessive pulse and numbers. but what I was not expecting was for the endocrinologist to send me to the cancer unit.
My Newest Dr was one at ease, saying it was the testosterone therapy causing thick blood. I told him endocrinologist said it was not. He agreed to run some tests. A DNA of the Jak2 gene, and others,
The JAK2 gene mutation test identifies whether there is a mutation on the JAK2 gene that could cause a myeloproliferative disorder. Polycythemia vera is one of the diseases with a high correlation with a JAK2 mutation.
Mine was negative, but my Iron was off the chart.
He then ran the HFE gene. I have a great GP that also mentioned This gene. This consist of the C282Y and h63d gene. I was given one gene from each parent, along with brothers and sisters, and going backwards thru family tree on both sides, to aunts, uncles, cousins, ect.
Hereditary hemochromatosis is present at birth. But, most people don't experience signs and symptoms until later in life — usually between the ages of 40 and 60 in men and after age 60 in women. Women are more likely to develop symptoms after menopause, when they no longer lose iron. My Neurologist niece was diagnosed at the age of 17.
But I have a Quite Rare type.
HEMOCHROMATOSIS DNA, RESULT Homozygous Mutant Negative A
Homozygous for the H63D mutation and negative for the C282Y mutation in the HFE gene. Five percent of C282Y
homozygotes and rare H63D homozygotes develop clinical symptoms. Genetic counseling is recommended.
So more research, and I find only one other person in ten years
So with Multiple Sclerosis, I now am dealing with weekly phlebotomy, to try to rid myself of iron overload symptoms. the Gene center told All blood relatives needed contacted, as hereditary.
My blood comes out as thick or thicker than pancake batter.
I think more studies need done, as I can not be the only one with MS, and Iron overload. Iron also effects the pituitary gland, so that tells me it crosses the brain barrier.
Would love to know if anybody else has this rare H63d Gene, doing phlebotomy, and has MS. How it effects MS, or any articles found.
Thanks for reading