Rare Disease Day 2021. #Rare Disease Day

 #Rare Disease Day

https://rarediseases.org/shareyourstory/

• Rare Disease Day

• How has your life been impacted by rare disease? Please share if you are a patient or a caregiver and which rare disease has affected your life.

For all my blog followers, Facebook, Instagram,  and other sites,  Rare Disease has become part of my life. My partner and I were invited to Rare a disease Day a few years back, in Sacramento, California.   I blogged about the event back then. The Zebra, one has  made it to Alaska for my mom.  The Event opened my eyes on how rare of a disease I have.

I am a patient with primary progressive multiple Sclerosis, researching all aspects.

 In 2018, I was sent to the Cancer unit for Thick Blood.  UC Davis found two copies of the H63D gene, causing Iron overload. Less than 3% are diagnosed with hereditary Hemochromatosis. I went thru 17 phlebotomy, to bring down iron.however, since I was the first person they have seen with the rare H63D gene, my iron never returned two years later. This has recently caused complications, so writing this beforehand to be published.

2021 the world is in a pandemic of the Covid that has killed more than wars have.Special masks are required to go out. Only specific Grocery Stores and Needed necessary stores open. Many businesses did not make it thru 2020, when the virus hit us hard from China.

A Vaccine is sitting, awaiting in California for months now. One of the same researchers of the covid vaccination may of stumbled on one for MS.

https://www.dailymail.co.uk/sciencetech/article-9138167/BioNTech-creates-multiple-sclerosis-vaccine.html

Why is Rare Disease Day important to you?

There are so many rare diseases that are not counted.

https://rarediseases.org/rare-diseases/classic-hereditary-hemochromatosis/

 This day helps me reflect on how far I have come in researching the H63D Gene, genetics of Hemochromatosis, iron or anemia.

The Rarity of my Gene. 

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• What is one thing you'd like the public to know about rare disease and the challenges patients and caregivers face?

A Rare set of two copies of the mutated H63D Gene can cause iron overloading in less than 3%. I happen to fall into that category.

rs1799945(GG)5H63D Two copies of H63D, 5.4% chance of iron overload. This I got.

HFErs1049296(CT)3Pro570Ser - risk allele: T (Pro589Ser) This is called TF C2. It creates an increased likelihood of iron loading when combined with any c282y and h63d because it forces a reduced TIBC resulting in higher levels of free iron and free radicals. This also Increases susceptibility to Alzheimer's disease but only when combined with c282y.

I had 17 phlebotomy or vein puncture in last quarter of 2018.  My Iron has not returned two years later. My gut derailed after phlebotomy. My EGFR dropped to 45 during the 17 phlebotomy.  This causes concern for CKD, to be talked about in another blog. Hematocrit and blood thicker than pancake batter.

Mutations in HFE Causing Hemochromatosis Are Associated with Primary Hypertriglyceridemia

https://academic.oup.com/jcem/article/94/11/4391/2596710https://academic.oup.com/jcem/article/94/11/4391/2596710

https://www.rethinkanemiaofckd.com/insufficient-hif-activation.html

https://www.medscape.com/answers/126568-15805/what-are-the-genetic-causes-of-hypertriglyceridemia-high-triglyceride-levels

• The 2021 global theme for Rare Disease Day is "Health Equity." What does equity in health mean to you?

That my rare gene will be looked at by science.

• How will you be showing your stripes for Rare Disease Day?

By posting this blog

https://rarediseases.org/rare-disease-day/

• Your photo(s), video(s) or audio recording(s)
  Videos should be under 2mins and in .mov or .mp4 

Everchangingms.blogspot.com

H63D Genes, Hemochromarosis, Multiple Sclerosis, iron

 Wild. --- unmutated h63D gene (gray) and mutated H63D gene (red)

Back to this pesky H63D gene needing to write again on. 

This does concern the Primary Progressive Multiple Sclerosis disease I was given in 2012, and the multitude of diagnosis that came afterwards, all inter related.  I hope some scientist can figure this out.

Pro570Ser - risk allele: T (Pro589Ser) This is called TF C2. It creates an increased likelihood of iron loading when combined with any c282y and h63d because it forces a reduced TIBC resulting in higher levels of free iron and free radicals. This also Increases susceptibility to Alzheimer's disease but only when combined with c282y.

But I have two copies of H63D, that one less than 3% get iron overloaded.

This gene has been With me my entire life. It is hereditary.

My Iron Results DNA

Hemochromatosis is one of the diagnosis in 2018. Thick blood, that the endocrinologist sent me to the Cancer Center. It took them a few DNA searches to find, but two pair. Less than 3% have Hemochromatosis caused by this gene.  My Iron, Hemoglobin, Hematocrit, Transferrin were high, along with Hypertrycglimeria stage I was in.

17 phlebotomy or vein punctures for my Europe readers were done last quarter of 2018.

Two years later, no iron has returned (or a little, since they allowed me to use cast iron skillet again, and spinach) but iron still low, barely on the chart.

My blood was thicker than pancake batter.

Does this still make me anemic two years later? Depends on which Doctor you talk with

Is this being anemic for two years? I kept doing my blood labs every two months. with iron not moving. The hemoglobin is on high side now.  So does this make me iron deficient?

Lots of questions, so asked my medical team.

Ferritin 13, iron 49, Transferrin 305H, Total iron binding 424H, Iron sat11.6% low. This is two years after phlebotomy Erythropietin was 25H. Creatine still high, along with Tryglicerdimia

As anemic, has its own set of problems, and other diagnostic items of what it can damage, and so does low iron, and MS.

I belong to a Hemochromatosis group. had family checked, as hereditary.   Found two others given diagnostic from this pesky gene. I asked to become a member of anemia group, and iron group to find out more of what came first?

What if I had anemia my whole life, but it was drowned out by Hemochromatosis, and MS? I found a site,  https://www.anemiaid.com/

This will check your DNA for free.  I sent request to my cancer Dr.

I also found interesting info from these sites I emailed my Dr team.

https://www.rethinkanemiaofckd.com/insufficient-hif-activation.html

https://www.niddk.nih.gov/health-information/blood-diseases/anemia-inflammation-chronic-disease#chronic

My GI symptoms went south when I had my last phlebotomy. He did not see coordination of iron playing a role. He is a great GI Dr.  Linzess along with laculose was given. He informed me from my last upper and lower GI, that I did not have ulcerative colitis, but  IBS-C. He did more test to verify this. A breathing test to check for hydrogen. Used  l lactulose, so had to be off this for a week. Constipation.  A emptying test.

I have also had a swallowing test, that showed problems. Eating radioactive food, never sound appealing.

I am also on metoclopramide, as my MS is not giving my bowel muscles the proper signal to muscles to move food along. This was also tested, by going off this medicine for months, and being put back on. I call this a Black Box medicine, as may interfere with my other meds. My drug company always has to check with GP, Neurologist, and GI Dr to get ok.

But GI problems go with MS, hand in hand. However, if you do not have iron, another story.

Iron is a absorbed in the lower intestine.

I have problems absorbing items there, as a test with vitamin D was done, with the assistance of my endocrinologist.  I was able to take 50,000 iu/day less tablets, by just changing time of day taken. A oil pill, like Vascepa, but interference with some genes and possibility meds.  

Not that Iron is the solution, but why am I not absorbing from foods, cast iron skillets? 

If regular Hemochromatosis, I would be making new red blood cells every four months. The bone marrow, would tell this. Also I would need to give blood every three months for Hemochromatosis levels.

So not to go into any new diagnosis given, I asked my team at UC Davis to check on more items. This may add a new team member, but that's for another blog.

Would love feedback from anyone.

Stay health and safe.  Be sure to like my blog and YouTube channel.

JoeY