Rare disease Day
Rare disease Day. Never knew that such a day existed, or that I would even be classified into a quite rare disease. As most people know reading this blog, I have primary progressive multiple sclerosis. Going on over eight years now. My main treatment, or DMT, is Copaxone every day along with 24 other medicines.
My partner and I attended Rare Disease Day in Sacramento last year. A wealth of information. The Rare Patients Voice, still need to make a video for.
But a Rare Disease was hiding in the comorbid of what MS brings along to some people. I have had optic neuritis, the MS hug, spasticity and more. Last year, trying to get some blood figures up, without having a stroke, the endocrinologist sent me to the cancer Doctor. He ruled out poly vercea genes, the main one of iron overload. and dug further . Two genes, one from both parents, on the HFE gene, that's the one which controls Iron. Anyways the H63d genes both had mutated, causing Iron overload.
Rare Disease Day again. This Gene, contacting Rare Diseases Link is so rare, H63d is only slightly been researched. I have found 7 people with the H63d Gene causing Iron overload, but not of two people having both genes causing Iron overload. Rare Diseases has been a wealth of information, or lack of, because of the rarity of this. National organization of rare diseases was contacted "nord" was asked to make a registry for this from a organization called Gard Link. This is the toolkit to start making a registry, so I hope you email me, drop me a note below so I can start this registry for science.
Still a project for me.
The H63d Gene causing Iron overload is passed down Thur generations I have found from 23andme.com heredity hemochromatosis another name to look for. You may pass it down to your kids, and then never having a problem, but their kids getting the rare H63d iron overload. Virtually in men, it means you store iron, and are never able to get rid of iron from a kid. This builds up, and is seen from 40 years old and older.
This shows up as high ferritin, Dr's dismiss. High iron, well probably a bad test, or you something. Hematocrit and hemoglobin then play a role of being high. Thick blood also known as.
Since I am on Testosterone therapy, I could not go higher on injections needed, as my blood was high on hemoglobin, and hematocrit. Iron just above line, nothing to worry about. The endocrinologist sent me to the cancer center, where they found the elusive H63d Gene.
Phlebotomy is the only way to rid the body of iron, as it will get into organs and cause even more havoc. Believed to be part of Alzheimer disease also.
I did a round of 17 phlebotomy, and testing every week for six months. At that point, I was still anemic, with no Iron. A year later, no Iron, but have taken some occasional iron supplements, after failing using cast iron skillets, raw spinach, and natural ways to absorb.
I retest in a few weeks, and see the the Cancer staff in a few weeks. But part of a problem noted, is when my Iron disappeared, my GI issues bloomed at a incredible full speed of problems.
There may be a direct link of no Iron to GI issues, or GI issues is also a known factor with Multiple Sclerosis. I will have to go into more detail in another blog.
The H63d rare blood disorder, caused iron to build up in me since a child. Being caught quickly give the best chance. I did find a distant cousin on my mother's side, from a fifth great grandparent, so way down the line. He has Iron overload, and is 72, and has the H63d gene.
Explaining this to him, his heart Dr., Thought his blood was thick, giving him a blood thinner, mis- diagnostic. He brought this new found info to his Dr's attention, did a single phlebotomy, that brought his Iron down. Complications can happen, especially when older, with a pacemaker. He agreed that the Quality of life was the most important. "The Golden Years may not be all what it's up to be. ". We stay in touch, kinda cool finding other relatives.
A direct cousin on my mother's sisters side has heredity hemochromatosis, mis-diagnosed, and now with no thyroid gland. She thought the H63d Gene was good, nothing to worry about. . Again so rare, Doctors did not know enough about.
So thank you for reading once again,
And if you have thick blood, or iron overload I would love to hear about this, to add to my registry, so some scientist can look into this.
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JoeY
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