What happens if your gut derails

As I mentioned, this blog will jump around some. Some makes more sense now.

A first line pain medicine that was dirt cheap was used in me.  Indomethacin.  This tore up my stomach, causing acid reflux, more pain, and the Doctor to prescribe Omeprazole.
I was in name brand Omeprazole for years, due to insurance. The pharmacists would go out to the shelf, and grab a couple packages, and put my prescription on it.

I was taken off  Indomethacin, but the damage was done. Never had heartburn, or Acid reflux my whole life until this Indomethacin was introduced.  Now I wonder how this drug effected my gut or small intestines. May never know, but thinking back of why I was out on Omeprazole.

Eight years later, I still use Omeprazole. This may be due to damage, never restored to a normal gut, age, or many of the other meds added over the eight year course that also may cause damage.

All is not MS, so I had to find out stomach issues I was having, that may or may not be MS.

I had a upper and lower colonoscopy/endoscopy two years ago, ranitidine was added. A new one that helped.  However, I was led to believe I also had Ulcerative colitis for the next two years by the Doctor.  I was out completely under for This procedure.


Ulcerative Colitis is one listed with Rare Diseases. A high dose of a probiotic, known as DSL#3ds is supposed to help. The cost was more than I could afford. Nord (National Organizations of Rare Diseases) has a patient assist program, so I applied, and was on Nords list to receive two boxes a month surfing the next few years, taking a massive amount of probiotics.

A Trial of this VSL#3, was also ongoing at UC Davis, San Francisco. So I was following that study, but knowing I received the real VSL#3 probiotic. That study ended, with mixed results, as perhaps not all the right probiotics were in VSL#3, for Multiple Sclerosis.


VSL#3 contains only eight strains, and has to be refrigerated. I have a lot of now empty cooler boxes and Ice packs, if anybody knows what to do with them.

Ubiome.com, a start up company out of San Francisco was contacted, as a Gut study of microbes was going on. I fell into being part of this ongoing study to this date.  Their reports changed over time, but would tell me microbes in Gut. Yes a small sample of feces in cotton swab into a glass vial was sent to them. Many probiotics were missing, or being crowded out by VSL#3.  At one point, I had No microbes of any probiotics in me. Weird, but knew a turn in my health took place at same time.

  Extra Gas from probiotics and pre biotic foods, such as flax meal, prunes, seeds, nuts, and other things were effecting my gut.  But that's for another blog with a new GI Doctor that undiagnosed, along with my GO Dr, ulcerative Colitis. Never had it. GI issues, yes, but not UC. I was relieved, but now what was needed.

Chronic constipation. Trulance was tried. Linzess was next with Miralax, known as polyethylene Glycol. Not on that later.

Guess this is more about the digestive system, being complicated. Finding out what runs in my family tree, and a lot more information learned in eight years looking back at why I am still in omeprazole.

A link.    Listen to your Gut
https://www.purityproducts.com/blog/listen-to-your-gut-is-your-digestive-system-the-gateway-to-better-health
I found interesting.


I found this written by Dr Orrange posted in goodrx.com

"Dr. Orrange is an Associate Professor of Clinical Medicine in the Division of Geriatric, Hospitalist and General Internal Medicine at the Keck School of Medicine of USC.

Posted on March 22, 2019

Omeprazole (Prilosec) is a cheap, generic medication available both over the counter or with a prescription. It belongs to a class of medications known as proton-pump inhibitors (PPIs), and is one of the most popular medications in the U.S. It’s used to treat heartburn, reflux disease (GERD), and ulcers. Many people also use omeprazole to protect the stomach when taking NSAIDS (non-steroidal anti-inflammatory drugs).

Even if you’ve been taking omeprazole for a while, here are five things you may want to be aware of.

1) Disruption of gut bacteria

Studies have shown that people treated with omeprazole have different types of bacteria in their gut compared to untreated patients. Specifically, people taking omeprazole have higher counts of “bad” bacteria like Enterococcus, Streptococcus, Staphylococcus, and some strains of E. coli. Why this matters is not fully known. But, the bacteria in our guts play an important role in our defense against pathogens, so disrupting the gut flora may be a downside of omeprazole. It might be why people taking omeprazole have a higher risk of getting C. diff diarrhea.

2) Omeprazole vs. other GERD drugs

Is omeprazole the best medication for stomach issues? Well, studies show omeprazole works better than rabeprazole (Aciphex) for a variety of stomach issues, but it does not work as well as esomeprazole (Nexium) for GERD.

3) Omeprazole and heart attacks

A study published in August 2016 found that taking PPIs like omeprazole could be a risk factor for heart-related complications. How severely omeprazole impacts heart health has not been fully explored, but in this study, long-term use of PPIs was associated with a 70% increased risk of cardiovascular issues—and risk increased with longer use.

4) Omeprazole vs. acupuncture

In a study from 2016, acupuncture was found to work better than omeprazole for GERD. The researchers compared GERD symptoms in patients taking omeprazole versus those undergoing acupuncture treatments over 8 weeks. After the study, both groups’ symptoms improved, but acupuncture was significantly superior to omeprazole. Worth a try!

5) Omeprazole “as needed”

Unfortunately, omeprazole doesn’t work on an “as needed” basis. PPIs like omeprazole take five days to reach maximal effect. So, taking it on an “as needed” basis will not provide enough acid suppression and symptom relief. However, some histamine-2 antagonists, like cimetidine (Tagamet) and ranitidine (Zantac) are better for that. "Dr

Look at my post Turmeric or Curcumin, as links says it will help


Thank you for reading
JoeY

Sacramento MS walk

This is my first MS Walk for the National MS Society in Sacramento, CA
I am On left, standing with a cane made by Dale, with Diamond Wood, from the interior of Alaska.  I have never met them,  but younger brother has. He made this masterpiece about 5 years ago


National Multiple Sclerosis Society - Official Site www.nationalmssociety.org

I put a team together, called EverchanginMS.
 Wil and I were the walkers, and had two virtual walkers, my mom from Juneau Alaska, and  Matt Allen  from southern CA raised money, being a virtual walker. Have to thank him and family and his friends
http://mattsmultiplesclerosis.com/

My brother, Keith, put a Team called centennial avengers  in New Mexico.  Knows a lot more people
https://secure.nationalmssociety.org/

They should have a fun time, to get to know co workers, and walk. It's in the principal of creating awareness

There was a big turnout for the walk.  I had to email city of Sacramento, as they showed all Parking full. Just a button they needed to press, to make garages available.

Parking was confusing, if you read the instructions, they were different, as the only way into the garage was pushing button for ticket, and arm raised. Two machines, outside, with only one working said to take ticket and prepaid code back to the machine, and you would have 20 minutes to leave.

That was not the case. Readers on machines with arms would not let us out unless we paid again. Attendant was called. Guess she runs between all the garages. But for her to get us a receipt to raise arm, she had to stand in same long line others also were having trouble with.

So  email back to city showing We paid again to get out, even though to reserve a spot, you had to do that online, and pre pay.  Felt sorry that the employee did not have tools to do her job, and had to wait in line. She should of had a bar code reader, showing you did pay, that would raise arm. We flagged people around us, trying to get out.  And seeing how bad it would be for the new arena built downtown, for people paying at one terminal working, to validate ticket, that still would ask for money when exiting. Think wording was wrong at entrance terminal, that said to press button for ticket. Did not see any reader from passenger seat, or instructions that said or enter your bar code.

The Walk was fun. They had a dozen plus booths from the Drug companies, making sure you got a water bottle, a pack, and goodies with information. Even one of the newest MS therapies was there with a single sheet of paper telling people about one of the newest drugs.

plus there was a table full of bagels, cookies, bananas, water, and another table serving coffee, having cups pre-filled, so no lines.

We were glad to of obtained  the material before the walk, as they quickly ran out of their trinkets.

A booth labels UC Davis, also was there. Wil said I see the Dr there, and then she turned around. I was able to meet her team that runs in the background, handling questions, and emails. Was great to see her there, as I had seen her The week before in a office setting, asking questions.

A second loop was a three mile loop to the bridge, A lot of people did with their groups..
But to far for us. The grand final was a cheerful crowd clapping and cheering us on.

A Trip to Costco, for their $1.50 hot dog, and seeing how people buy truckloads of "stuff" was our lunch, after we test drove a Echo sport car for the first time. It was roomier inside than it looks. A all wheel drive with four cylinders, drives different than the three cylinder one.

A real tire mounted to the back would be a must, and all wheel drive, as we live at 3000 ft level.

https://www.ford.com/suvs-crossovers/ecosport/?gnav=header-all-vehicles

A jeep is still being looked at, as it has a real spare tire, and able to lock the 4 wheel drive. A must for snow.

A Subaru was also test driven, as they keep their value, all wheel drive..I
All wishful hopes, for reliable transportation.

Our cars are 25+ years old, and the failure for the mandate of the state of California to provide rides for me is in court, as I have exhausted all means of rides to specialists I need to see that are far away.  The State took three months to find me  a driver, that gives rides, He is in our county, and has been  doing business for years.

State vs JoeY

 Just know State has put A lot of legal people On this, and wasted resources, that could be used in a better manner.  flying people up to Sacramento.  Can see why somebody would give up on transportation, especially when retaliated, after taking a year and half for someone to be  licensed. 

For me, the search for rides goes back to 2013 to find someone, after exhausting all resources in all the counties.  Then three months, after finding the State was Required, but they could not find the licenced guy just down the road.

I am awaiting a judge's decision, as already went to a hearing, given 30 days for judge to make a decision.  state asking for two extensions. The last was to retaliate it would appear.

Enough rambling, but perhaps This case will will help others.

Thanks for reading
JoeY

Bowel constipation and intestines

Bowels, constipation and MS Poop

I have mentioned some of these items of Constipation, Diarrhea, in prior blogs, but figured everyone needs the down and Dirty of living with Multiple Sclerosis and dealing with issues.

First a quick YouTube video, made for kids and adults to watch, as animated of What goes on after you eat.
https://m.youtube.com/watch?feature=youtu.be&v=_2HDeSNQbio



I have dealt with this Since before my official Diagnosis of Multiple Sclerosis.
Many People, even without Multiple Sclerosis deal with Constipation and Diarrhea, so this blog is for them also, and of any age this can occur.

My Mom told me a story of when I was a little baby.  I had not gone poop for quite a few days.  My mom's Mother, Grandma came to watch me for the evening, and said she knew how to make me have a bowel movement.  When my parents came back,  Grandma said I had a bowel movement, and did not explain how. She was a nurse in the military thru the wars. She passed away at last year. President Trump sent my mom a Thank you letter for Her mom's service.

Her two Daughters when growing up, we're made to have bowel movements daily, by her mom, regardless. This would be in the 1940's. I could only imagine what was available to make this happen. Enema s, cod liver oil, suppositories, and more.

A Story goes back to the 1800's, when poo paddles were made out of wood, and in the Midwest, that was common to have poo parties to clean out any blockage.

Nothing much has changed, except for research, and finding knowledge of what works or does not. Perhaps Gene related, or eating habits, or never having the knowledge of how often to poo, or what it should look like.

Poop scale from web MD

With my MS, at the beginning, I made a emergency contact With my Dr, as I had not gone poop in days, and days went by until I could see the Dr. He put me on Generlac, which I still need and use.

With Multiple Sclerosis, the Va gnus nerve can be damaged, which sends the signal of What should be happening thru the entire digestion, and when you should go.

Another issue is so many medicines can make you constipated, or have diarrhea, as a side effect. Many medicines for others without MS, also can cause this.

My mom, the issue of growing up, being made to go, caused he bowels to become lazy. There may be a Gene also passed down, that caused bowel problems.

With Multiple Sclerosis, the disease effects the nerve fibers, which your body is made up, that controls muscles. Think of the video. Swallowing takes certain muscles to move the food to the stomach. Swallowing issues are common with MS. I have this condition, and slow moving food.

Next comes the stomach, to digest the food.
Many people with MS, and without use protein pump inhibitors, like prilosec, antacids, to control gerd,  due to medicines, or foods. I have been on these for almost a decade. Added was ranitidine to my daily medicine regimes to help. This one helped! Still on generic prilosec, as that helps.

Then comes the intestines. Another Muscle affected by Multiple Sclerosis. Many MS patients use metoclopromide. This medicine comes with dangerous side effects though. It causes the muscles to move the processed food along thru the intestines, contracting the muscles. This helps tremendously for me.  Old folks home uses this drug, and a side effect is smacking of lips. More dangerous non reversible side effects can occur. I was taken off, and put back on this medicine, as the benefits outweigh the dangers.


Soft tissue damage can also occur when the poop becomes hard. This can happen anywhere along large or small intestine.

I have done a upper and lower colonoscopy. Where the Dr decides to snip pullups off, to biopsy for cancer, those areas can bleed. The ladies in quilting class today were talking about this subject. Quite interesting of their experiences. I was completely out under for mine, while others were awake during procedure. The gallon of liquid to clean you out is better than the pint of goop. Stay near a bathroom, and Don't fall asleep, or accidents will happen.

The upper, Dr uses a scope to take pictures of stomach, and opening as far down as he can in the large intestine, going thru the mouth and down throat. A problem area, if you already have swallowing issues, or slow movement. And could also create this problem.

The lower is done thru the butt, and up as far as they can go.  This can cause lots of trapped gas, or they can Nick any area in upper or lower, which also causes problems.

Simethicone is used by me for trapped air. This air caused  bloating and distentention, covered in a prior blog. But it breaks up bubbles. Not a complete solution. Now is metabolic syndrome going on.

I was led to believe I had ulcerative colitis going on for two years. I switched to a New GI Dr, at UC Davis. He undiagnosed me, along with my New GP who is a GO Dr. Symptoms did not match what was happening. I was On a mega dose of VSL#3 for those two years, which mimicked a study done for Multiple Sclerosis by UC San Francisco, as the gut plays a huge role.

About this time I had my first major hemorrhoid. A out tie, that I took a picture of, and sent to my Dr., As not sure if a ER visit to hospital was needed. Hemorrhoid cream was used for a month.

Because of chronic constipation,  I was finally ab!e to see a new GI Dr, at UC Davis. This took six months to get in for appointment. In meantime, trying different fibers, and over counter natural remedies. A potty squatter, or chunk of wood to put your feet on to obtain right posture, a massage of small intestine from right side up and across to left side and down.
The new GI tried me On Trulance.
This drug caused many accidents to happen. Was not addressing the distention and bloating, or straining still needed. He had taken me off metoclopromide, but put me back on the medicine, when he found out it was helping. He Added polyethylene Glycol to my daily mix, also known as miralax.
Three months later I was a candidate for linzess. May not be the answer completely, but is helping, keeping consistency of poop as Soft serve ice cream to liquid. Once or twice in the mornings.
I can assume internal hemorrhoids, as bypass of poop. But a lot less straining.

My first GI, said follow up in ten years, but I will not go thru a upper or lower colonoscopy again.
There are other options now. A box, you mail a sample to lab to check for cancer. Won't show pictures though.  There is a Camera Pill you can swallow, and it takes pictures thru whole digestive system.  I may be a candidate for this trial, for any researchers reading, contact me.

One of the ladies, said she read about this. Camera got lost. It was actually stuck in Tumor she had growing, so her story is still going on with unknown outcome, read it online.

I find in my family history, bowel blockages, ruptured bowels, and more in past generations, so only assume thin soft walls, that need care, without major straining to go is needed.  Any  surgery is not permitted, as I would not heal. Especially from inside to outside. This is to gene listed below, type of blood, and any blood needed, my body would attack, and make more iron, causing phlebotomy. So no surgery. Other means need tried.

 Google the term "poop in old days" For many remedies.

For those keeping up on blogs, jumping back and forth,
I stay slightly anemic currently after doing 17 phlebotomy to remove excess Iron from my blood since October 2018.  My bone marrow makes new blood cells. New cells made every three months. Going on month #5 now. But still anemi.

My other siblings with problems of  diverticulitis, after scope.  Dr prescribed Ciprofloxacin (such a lot of side affects for that med) and. Metronidazole to treat infections.
My mom, major internal, and became septic, when bleeding inside, and needed a lot of blood and Hospital care. 
 This is Nothing to let go on.

My Iron in from build up since birth.
This is due to a inherited gene, one from my mom's side, one from my dad's side. Known as the HFE Gene, H63d/H63d that changed  C to a G, causing a protien to never release iron. My Brother has exact copy, with Iron Overload, Thick blood, high hemoglobin, high hematocrit, high ferritin. Known as Hemochromatosis.  This is On top of my Multiple Sclerosis, with overlapping symptom's. Fatigue never went away, so MS symptom.

I now have doctors shaking their heads, as Hemochromatosis , but anemic.u

The opportunity to meet with a old Dr from years ago over coffee was amazing. Keep track of your good Doctors.   I just found out that my GO, is going on to learn more. He will be missed, but have me contact to stay in touch. That means alot, when a Doctor has interest enough in the patient to keep in touch as friends.

 To understand,  Hemochromatosis, as it does manifest with different genes, or may never know, this video is worth the watch to explain.
Watch this video,
https://www.youtube.com/watch?feature=youtu.be&v=_2HDeSNQbio&app=desktop
IRON MEN Living With Hemochromatosis HD

https://www.youtube.com/watch?feature=youtu.be&v=_2HDeSNQbio&app=desktop IRON MEN Living With Hemochromatosis HD

 on how the genes, normal or modified like mine, passed down thru generations, into next generations

Thanks for reading.
Subscribe to my blog for newest updates.
JoeY

Neurodegenerative Diseases

Recently, My Neurologist was doing  injections of Botox into both calves, and the neck muscle for spascity.  the muscles remaining in a Charlie horse state. Botox works for 62 days, but can only be given every 90 days

He has mentioned the large blood cells, or thick blood vessels I had since day one.  I was now able to tell him what genes were involved that created the Iron Overload. A possibility of the pituitary gland storing iron, as Testosterone and vitamin D shot up at the beginning of phlebotomy.

  I have a great Endocrinologist form University of California, Davis that keeps a good track of me. She is the one responsible for getting me to the Cancer Doctor, when my blood was not normal. She had done  a MRI of the pituitary gland, after ruling every endocrine items out.
 At that point I knew she was looking for a tumor. This came back normal. The Endocrine system was having trouble though.


My main neurologist,
He asked about other Genes involved, if I had The A004 gene. This is Alzheimer Gene, which was also passed down. My Moms dad died of this.  He agreed to review my DNA on our next visit. Iron is also involved in studies they have done. So a double whammy, but doesn't mean I will get late stage Alzheimer's.  I will bring him the DNA  that was this gene was passed to each child,  so a interesting reading. More research to keep my mind active.

A few other Genes listed, but 23Andme does not show you all. It's in the raw data, that would need uploaded to another site to tell you what the gene coding means. Blue eyes, or brown hair, or a bunch of diseases you may be susceptible to.  Still looking at sites, still trying to get my mind boggles down with information of this new DNA technology

These gene sites, including 23andme, can also tell you your ancestry. I have a ton of people related to, never knew about. Letting my sister and mom do genealogy of this new found information.

Multiple Sclerosis is a neurodegenerative diseases, along with hematomochrosis or iron overload,
Macular degeneration, celiac disease,  and a whole slew of others.

My Team, is made up of a  GP, DO, (Dr of Oseopathic medicine, who looks at the entire body as a whole) two Neurologist, Endocrinologist, GI Dr,  A heart Dr from Sacramento Heart, a ophthalmologist, a optometrist, hemotologist, Cancer Dr,  gene counselor, and their team of nurses, students, and researchers I utilize.

  they are keeping track of me, and the interactions of new symptoms.  I get my follow up visit in a few weeks, where I bring my notebook with me full of questions, or possible therapies for my main MS Dr.

All The other neurodegenerative diseases just pile On top of my Multiple Sclerosis.

My main Neurologists asked questions, and then  scheduled Me for a Lsep Test This last visit.

This is a test, they put electrodes on many parts of your head and your bottom legs. Many electrode sites hooked to a graph machine,  different electrical currents and pulses are then sent up the leg and back down to measure the nerves, speed and a lot of other technical items, from different parts of the brain.  The Neurologists keeps track of my MS, with these test done every so often.


MS took a turn this last two months. Stabbing knives alternating between the top of the feet down thru. Only happens at nighttime. My GP last month, told me my body was getting used to the drugs, and wearing off.  I went back thru my notebook, and assume I have found the culprit drug not working.  When cymbalta was changed to a generic, it only has to be 70% of original strength.  I used many generics that did not work, including naming generic brand for not working.

This I think happened again. With same drug, a generic of Cymbalta, wearing off in 18-20 hours, instead of being 24 hours. I did my own study, as cymbalta, or generic takes a few weeks to kick in, I had enough of brand x for two weeks,  so I used brand Y, For first two weeks with extreme pain awakening me around 3-4 am. This was followed brand x for two weeks, without problem. I then followed it with brand Y again, being awoken with jabbing pain in foot about the same time. Since mail order pharmacy, they just send what Aetna Coventry has bought the cheapest of, I do not have a say.  But with a half dozen tried, think name brand may need to be medically necessary, if I receive this sub brand again. But Need to let people who make it know,

I feel privileged to have access to two Neurologist. One Neurologist, perhaps in his 70s, his dad was a Neurologist also. He keeps up to date with what has worked, and what has not over the years. A very sharp minded guy, who has me even try concoctions I have made to obtain 27 mg of  quinine that stops the Charlie horses when botox wears off. A tablespoon of Yellow mustard
Also helps. No Dr's can explain this one.

He injects botox into my calves that stay in a continuous Charlie horse, until botox is used. Also this botox is injected into my neck muscles, where knots of muscles form. This is called  Botulism Toxin A, so different than one used for wrinkles.

I bring My notebook into his office three weeks later to go over research I have done, the yey, or no, or that was tried in 1960, or get him more info. His office is always full of paperwork, as he does not use a computer. A staff of three, that writes the schedule in a book, the other, a old computer for billing.

My other Neurologist is a lady from the University of California, Davis. She also keeps up on latest items, and research.  She is in charge of some researches going on,  but I can only see her every six months. Some visits are short of she is running behind, or longer if I am in need of time with her. She examines my reflexes, strength, walking speed, and types lots of notes of last six months. There may be a trial she will be involved in.


My other team consist of

 Ubiome.com, who does a Gut study of microbes in me. I was one of the first on their pilot study. They have came a long ways since then.  I share the results with my go and GI Dr.

 23andme.com who just did my DNA, along with the Cancer Center doing DNA also.

Iconqurems.com let's researchers look at your labs and questions.

Patientslikeme.com keeps a great record of medicines, started, stopped, adjusted, graphs on me and pain levels. Has all my labs in one place with graphs of levels. Has my DNA, and blood samples.

Allofus.com recruited 1 million people for testing with scientist to develop precision medicine. I was one of the first few thousand who joined. They are looking into my DNA, and keep me informed of their scientists and Test going on.  Perhaps future generations will be helped.

Managemypain pro is a great app I've used to see what medicine affected me, or where I was having more pain at.

I ask other well known bloggers also, to get their perspective. I always look forward to their emails.

Thanks for reading
JoeY

Also, if anyone wants to walk or virtual walk around the capital of California for MS, My team name is everchangingMS
Everchangingms Sacramento MS Walk or Virtual Walk

Rare diseases

Multiple sclerosis is listed with Rare Diseases.
Both Wil and I had The opportunity to go to the Rare Diseases Convention held this last Saturday, in Sacramento CA 2019. rearediseases.org

They had it set up for 75-100 people, but I felt more connected to the small group of sixteen that showed.   Wil and I, the only guys.  I could not keep up with the disease names or short names the people had, or a loved one, like their child died from.  names of diseases never heard of and years to get diagnosed properly.   This conference covered rare diseases and the orphan diseases, which is a disease that has less than 200,000 people that have the disease.  So my rare rare H63d gene that I received from each parent, that was mutated, perhaps a hundred years ago,  is quite rare with me, and my older brother, and one other in 10 years I found. Would love to hear from anybody with both H63d genes that caused Iron overload, for paper to submit to researchgate.net, so other researchers can look at.

I have been in iron overload, with phlebotomy every week since October. I became anemic since January, and numbers not coming back quickly, as my bone marrow makes new blood cells.
My brother, did not know he also is in iron overload. It shows up as high ferritin with him, and bronze skin color.   Bout in the big toe is a sign of iron overload often overlooked.   high hemoglobin and iron saturation with me. Two genes, part of HFE, identical H63d DNA which causes the protien that turns on or off the uptake of iron to the body not working properly.


Rare Diseases had a nice breakfast and lunch spread  set up for us.
The presenters knew their materials and answers to questions asked.

There were some sniffles, and the lady who sat next to me, using mega Vicks vapor rub, so I hope the zinc I Take will head off any of the people that have been coughing or have a cough is not contagious. I can not take vitamin C, because it attracts iron. Fortified cereal, and a lot more items contain iron, or extra C, that I can not tske.

I was glad the conference wrapped up by two, as my body was becoming stiff, and MS symptoms not settling down.  We were quite tired by the time we got home to Wil s Mom, who made home made lasagna for dinner, which we enjoyed after she came home from church.

Our dogs got their walk before rain hit, and we're glad we were home. A night in Sacramento was spent before the meeting, sponsored by rare diseases, as the distance was far for Wil to drive.


I forgot to mention their new site https://rareaction.org/resources-for-advocates/

Thanks for reading
Joe

H63D + H63D causing Iron overload

H63D

Gene: HFE

Marker:rs1799945

G

Variant copy from one of your parents



G

Variant copy from your other parent

 Biological explanation

The variant tested is a change from a C to a G in the DNA sequence of the HFE gene. It results in a protein that can't properly control the amount of iron released from cells.

A Iron ferritin test will not show, says normal. It takes the Dr to look at my Hemoglobin and Iron Saturation to obtain results. If iron saturation is greater than 3% and Hemaglobin is greater than 12, a phlebotomy, AR also known as a venIpuncture,, will be done, for those wondering, or researchers interested. 

Phlebotomy is the collection of blood by one of several methods. These methods include: 1) performing a finger puncture with a small lancet to let blood drain from capillaries, which is then collected into a very fine glass tube (capillary tube), a pediatric (microtainer) collection tube, or onto blotter paper; 2) a heel puncture, in lieu of a finger puncture, for neonates and infants; 3) venipuncture; and 4) arteriopuncture or arterial puncture.

Venipuncture, as it relates to phlebotomy, is using a needle to puncture a vein from which to collect blood into a syringe or evacuated tube. (Venipuncture can also be used to introduce into a vein a fluid, such as a medication or a contrast for radiology, but that falls outside the scope of phlebotomy.)

I have only found one other person in ten years, that had done a study of with This rare gene.  Even 23andme DNA, does not say you can be in iron overload.



This is one of the best explanations of how the gene changes a protien, to cause problems.

https://labtestsonline.org/articles/genetic-testing https://labtestsonline.org/articles/genetic-testing

https://labtestsonline.org/genetic-disorders
https://labtestsonline.org/genetic-disorders

https://labtestsonline.org
https://labtestsonline.org

I have been in Anemic Stage since the beginning of January 2019, since doing weekly phlebotomies since October 1, 2018. I have not done any phlebotomy since, as my numbers still are dropping. I emailed my Cancer Center Dr, to make sure I do not get into trouble stage, with such low numbers, along with The phlebotomist center nurses called me, to keep a eye on me.
The only side effect have is I get out of breath, doing simple items. Complete trying to catch my breath, like hiking at 15-20,000 ft elevation. My body not getting enough oxygen, due to new blood my bone marrow is making,  with less oxygen per cell to utilize.

Since this is such a rare blood disease, most doctors do not have a clue, or do not do enough research to find DNA.

 A liver Dr, stood across the room from me, and said there was no possible way I had Hemochromatosis, or iron overload. That I never needed Any phlebotomies. His assistant, who came in before The Dr did, explained some liver test they wanted to do, for uptake of iron from The small intestines to The liver, possibly the cause of The metabolic syndrome going on in my stomach.  The Dr wrote a electronic note to all my other specialists, that said I did not have this


So I spent a day to quote some Items of Yes, I do have Iron Overload. These are the genes involved per my Cancer Center Doctor, and Emailing his quote to all my other Drs.

I was referred to The liver Dr, by my GI Dr, to see iron loading in my system.

Then there was the Gene Dr, for a consultation on the rare gene I have. She quickly dismissed this, and said to send her hemoglobin reports from family members, saying it just ran high with everyone. I did this, and then the format.. My brother supplied 27 pages of hemoglobin reports.


When emailing family,
My siblings stepped in, realizing, this gene was real,  and could be passed down and they did a 23andme test in December, including my mom.  I had The opportunity to see how this gene was being passed down, and think 200 years ago mutated, or unknown. This  just aligned exactly with me and some siblings, others are carriers, who passed The gene to their kids.

I emailed this info to my Gene Dr, as next appointment was a few months away. A email response was thank you. No follow up needed.  The next week was a call of why I cancelled. This brought the Gene Dr to call me personally. I had unanswered questions, and still do, as our three minute talk was not enough about this rare gene, or that I had taken time to find This gene running in my family.

So a full-fledged rollercoaster type of last few months.  The State finally supplied me with a driver and vehicle in January 2019.  I have asked since 2013. Weekly tolls were not nice to our 25 year old cars For the drive, and quite costly, but more On that later.

NORD, National Organization for Rare Diseases,  emailed me about a rare disease and orphan disease convention they are having next weekend in Sacramento. Ensuring a hotel For prior night, as it starts early. So more On this later.

Thanks for reading. If you know of anyone who has thick blood, and these genes line up, would  love to hear.

Thanks for reading
JoeY

Phlebotomy Or Venipuncture number nine

Phlebotomy  venipuncture number nine, with Wil in the background.

For my UK audiences,

Phlebotomy is the collection of blood by one of several methods. These methods include: 1) performing a finger puncture with a small lancet to let blood drain from capillaries, which is then collected into a very fine glass tube (capillary tube), a pediatric (microtainer) collection tube, or onto blotter paper; 2) a heel puncture, in lieu of a finger puncture, for neonates and infants; 3) venipuncture; and 4) arteriopuncture or arterial puncture.

Venipuncture, as it relates to phlebotomy, is using a needle to puncture a vein from which to collect blood into a syringe or evacuated tube. (Venipuncture can also be used to introduce into a vein a fluid, such as a medication or a contrast for radiology, but that falls outside the scope of phlebotomy.)

I've decided to get more technical. Found this video on Facebook, but the actual explanation is done on Brainiac75 YouTube channel

Monster Magnet meets blood
https://m.youtube.com/watch?v=IVsWTkD2M6Qblood

So what can be learned by scientists with this tidbit of information? I'f you are high or low in iron?  Would love comments.


I was interested it HFE is a blood disorder,
 a blood cancer,
or how it is defined, as it will last they test of my life, like Multiple Sclerosis does.

Google answers asking of HFE gene,  provides a spelling
"haemochromatosis an autoimmune disease?
In this severe disorder, iron builds up rapidly in the liver of the developing fetus. It is thought to be an autoimmune disease, in which the body attacks itself. "


A government site shows this
https://ghr.nlm.nih.gov/gene/HFE
The HFE gene provides instructions for producing a protein that is located on the surface of cells, primarily liver and intestinal cells. The HFE protein is also found on some immune system cells.

The HFE protein interacts with other proteins on the cell surface to detect the amount of iron in the body. The HFE protein regulates the production of another protein called hepcidin, which is considered the "master" iron regulatory hormone. Hepcidin is produced by the liver, and it determines how much iron is absorbed from the diet and released from storage sites in the body. When the proteins involved in iron sensing and absorption are functioning properly, iron absorption is tightly regulated. On average, the body absorbs about 10 percent of the iron obtained from the diet.

The HFE protein also interacts with two proteins called transferrin receptors; however, the role of these interactions in iron regulation is unclear.



MEDLINEPLUS SHOWS

Autosomal recessive

Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families.

An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.

Information

Inheriting a specific disease, condition, or trait depends on the type of chromosome that is affected. The two types are autosomal chromosomes and sex chromosomes. It also depends on whether the trait is dominant or recessive.

A mutation in a gene on one of the first 22 nonsex chromosomes can lead to an autosomal disorder.

Genes come in pairs. One gene in each pair comes from the mother, and the other gene comes from the father. Recessive inheritance means both genes in a pair must be abnormal to cause disease. People with only one defective gene in the pair are called carriers. These people are most often not affected with the condition. However, they can pass the abnormal gene to their children.

CHANCES OF INHERITING A TRAIT

If you are born to parents who carry the same autosomal recessive change (mutation), you have a 1 in 4 chance of inheriting the abnormal gene from both parents and developing the disease. You have a 50% (1 in 2) chance of inheriting one abnormal gene. This would make you a carrier.

In other words, for a child born to a couple who both carry the gene (but do not have signs of disease), the expected outcome for each pregnancy is:

A 25% chance that the child is born with two normal genes (normal)A 50% chance that the child is born with one normal and one abnormal gene (carrier, without disease)A 25% chance that the child is born with two abnormal genes (at risk for the disease)

Note: These outcomes do not mean that the children will definitely be carriers or be severely affected.

Yet, another government page shows:

Although a direct association has not been established between HFE mutations and MS susceptibility or clinical outcome 109, a recent retrospective study on patients who were homozygous for HFEC282Y concluded that autoimmune conditions were common among individuals with hemochromatosis

 For technical readers,
Page 18 of https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5569368/  click This link.  This government page
Shows
Autoimmunity

From a different perspective, enhanced immune responses by mutated HFEC282Y may favor the appearance of autoimmunity. Various reports have described autoimmune conditions in association with hemochromatosis. In particular a higher prevalence of the HFEC282Y mutation was observed among cases of multiple sclerosis (MS) and was present among MS patients that had an accelerated onset of the disease and more severe MS symptoms 109, 110, 111. Although a direct association has not been established between HFE mutations and MS susceptibility or clinical outcome 109, a recent retrospective study on patients who were homozygous for HFEC282Y concluded that autoimmune conditions were common among individuals with hemochromatosis 15. Expression of the HFEC282Y mutation could increase the self‐reactivity of CD8+ T cells that cross the blood‐brain barrier, via increased MHC I antigenic presentation. The HFEC282Y mutation may result in an increased presentation of auto‐antigens related to MS beyond a recognition threshold causing the onset and progression of the disease, unlike HFEWT which could inhibit presentation and maintain immunosuppression 109, 111.

The Article goes on to talk about cancers also.

Iron overload is rare in patients homozygous for the H63D mutation
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4071918
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4071918/

Excess Iron and Brain Degeneration: The Little-Known Link
Life extension has interesting info
https://www.lifeextension.com/Magazine/2012/3/Excess-Iron-Brain-Degeneration/Page-01

Suppression of Iron-Regulatory Hepcidin by Vitamin D
Vitamin D and Iron
https://jasn.asnjournals.org/content/25/3/564.full

But mine is just opposite of what article talks about, as I have High Iron. Was on 150,000 iu Vitamin D, to keep my levels up, followed by endocrinologist every three months. I was found initially with vitamin D in Ricketts stage. They phlebotomy has made some drastic changes to my #s increasing, along with my testosterone numbers. Adjustments were made, to my daily regime of meds, and to retest in a month, and again two months later. Such a rare H63d gene, then doctors monitoring, I am keeping notes. Perhaps scientists will look at, as I am quite rare.

Wikipedia defined Hepcidin

Hepcidin synthesis and secretion by the liver is controlled by iron stores within macrophages, inflammation, hypoxia, and erythropoiesis. Macrophages communicate with the hepatocyte to regulate hepcidin release into the circulation via eight different proteins: hemojuvelin, heriditrary hemochromatosis protein, transferrin receptor 2, bone morphogenic protein 6 (BMP6), matriptase-2, neogenin, BMP receptors, and transferrin.^[14]

Erythroferrone, produced in erythroblasts, has been identified as inhibiting hepcidin and so providing more iron for hemoglobin synthesis in situations such as stress erythropoiesis.^[15][16]

Vitamin D has been shown to decrease hepcidin, in cell models looking at transcription and when given in big doses to human volunteers. Optimal function of hepcidin may be predicated upon the adequate presence of vitamin D in the blood.^[17]

I belong to All of Us research program. They sent me a email back questioning the rare H63d Mutation I have

"Indeed, the mutation you have is quite rare so thank you for bringing this to our attention.  I am happy to report that one of the very first actions to be taken by the NIH All of Us Research Program will be to sequence the DNA samples you kindly provided when you allowed us to collect a sample of your blood. This, and any other notable mutations, will be detected by the NIH team and investigators studying this mutation or condition will be notified.

In the meantime, I looked at the list of national clinical trials atClinicalTrials.gov that were studying hemochromatosis. There were about 46 studies listed and a handful currently recruiting in the USA. I am not advocating that you enroll in any, but thought you might like to see what kinds of alternative treatments are being studied for this condition."

 Those interested can contact

Samrrah A. Raouf
Clinical Research Coordinator
All of Us Research Program
UC Davis Health
Office: (916) 734 5772
Mobile (call/text): (916) 502-5605
Allofus@ucdavis.edu
www.joinallofus.org

A update is I have became anemic first of the year 2019, from phlebotomy's. My numbers are still dropping eight weeks later. So no phlebotomy for now, but watching me close, so I do not get to low, as being anemic has its own items, I will talk about in another blog




Thanks for reading
Joey

Ever changing MS

Danger road curves ahead

                                                       Blood phlebotomy from 1800's

A perfect title. Ever Changing Multiple Sclerosis. It is still a very big part of how MS has changed me. I try to be proactive in My approach, learning about the disease, asking universities, and researching a lot of articles, and papers written by the experts.

  My Neurologist told me all the fatigue was MS, has nothing to to do with being in a iron overload state..  Since doing phlebotomy since October 1st of last year, the Cancer Blood Dr. Has had to rely on Hemoglobin numbers, as ferritin numbers showed so different, as if  I was good to go after the second phlebotomy.  The Iron Ratios were still so far off due to the H63d Mutation of the HFE gene. Hemoglobin was the only way to check.  He wanted to get me to a number 10-12,  ferritin >05%. Which would be just Anemic. Being anemic would throw me In a stage of the fatigue caused by being Anemic.  My numbers went down but the MS fatigue never went away.

In the meantime, the Cancer Blood Dr. set me up with a Gene Counsellor.  My GI DR. went and set me up with a liver Dr, due to metabolic syndrome going  on. This was to ensure how much Iron my liver had absorbed by uptake from the small intestines.  I am in between seeing my Neurologist, but keeping them in the loop.  I keep my GO in the loop monthly talking with him.

Not All Doctors are the same. It was a roller coaster day for me and my partner Wil.

The week before I was  undiagnosed with ulcerate colitis. That was good. I was led to believe I had this for two years. VSL#3, prescription strength was used during this time, a mega high dose pro biotic.  I never had The symptoms explained.  My New GI Dr explained this to me.

The Gene Doctor, said I could not have Iron overload, as she scratched some items on paper, showing the feedback loop. I had brought a pamphlet with me, my mom helped put together from Alaska. This was a entire genealogy of relatives, going back generations, and forward to the current generation. Also included was a notebook of any known family diseases, or how a person died, or those living. What was still being worked on was DNA, I let her know.

 Everyone has taken a 23and me a test,but not all results were available, which included mine.  I am sure she had access to doctors notes, that showed he mutations., and lab notes of the H63d gene causing the problem in me, but disregarded them, perhaps undiagnosed me, with her notes, before even seeing me.   She was saying hemoglobin just ran in my family.  This I  checked and emailed to her, after her appointment, showing everyone was normal.  Not sure what she thinks, or I should follow up with her.

 Illustration to show the structure of the DNA double helix.

Image credit: Genome Research Limited.Unravelling-the-double-helix




A interesting article, H63d info, shows the H63d Gene, and since I have two copies mutated, Iron Overload. This gene is also known as

rs1799945

My GI sent me to A liver Dr for metabolic syndrome going on. Perhaps the uptake of iron in the intestines, and stored in organs. His assistant had more yearn for knowledge. He said, perhaps some blood test, so they could check iron uptake into the liver.
It was then, the liver Dr entered the room. Said no way could I have this. I did phlebotomy for nothing, for no reason, undiagnosed me, said he would write notes to all my Dr's, who were wrong. Said I was fine, and left, no follow up needed. I was sitting their with my jaw half open, Wil the unmistakable look of what he just did.

This led me to email my cancer center blood Dr, who ensured me  two mutations of the HFE gene were happening, causing Iron overload, as we discussed.
I spent the rest of the day emailing my cancer center doctors Dr's notes to everyone, and then poof!!!! Liver Dr's notes disappeared, like I never saw him.

Our 25 year old car took a beating, needing many parts, and maintenance for the weekly phlebotomy, and blood test, as Sacramento trips are hard on a old car.  Department of health care service DHCS was supposed to supply transportation during this time, but would not until I sent notes to legal services of northern California,  Lsnc.net and Governor Brown, that they had not since 2013 when asking everyone in the county, and organizations for help.

So not all Drs are created equal, or want to have the knowledge of if they are wrong, or do not know, to come out and say so. A email from either of these two Doctors, would of put some faith back into them.
This led me to a YouTube video I made on the way to a doctor.  caution, Many turns ahead

Danger road curves ahead


Thanks for reading
JoeY

Summer 2018 Train Trip

My Partner, Wil, is great at finding deals. We did not want to be away from our dogs for very long. Alaska trips became out of our budget, with the cost of flying.  Wil found a flight to Chicago where all Amtrak trains leave from. "Mom" watched our dogs for few days.

I packed a unopened bag of psyllium hulls, and a unopened bottle of generlac, a regime I was on for adding fiber for my MS and bowels. TSA however did not like that. I had to open each of the factory sealed containers.  So guess next time, only pack half of each, as that's all I needed for the trip, and was packing as light as possible. .  All other twenty medicines and syringes  were of no concern.

We had a car service drive us to Sacramento, as we live in a remote town, no uber or taxis to airport. This was the beginning of another Amazing Race, my mom kept up on airplane ride, posting where we were.  We made clues of what to do when we checked into our hotel.

The Congress Plaza Hotel is about a hour on the train directly from the airport. The train is elevated, going by old brick buildings, apartments, and many different areas that make up the outskirts of Chicago.  not sure how people adjust to The trains feet from their windows.

The Hotel was built in 1892 for the world's fair, and visited by dignitaries, presidents from around the world. It is known to be haunted. The rooms were all redone. Our view was on eleventh floor with architecture all around us. Willis Tower could be seen a few blocks away. Clean rooms, bathrooms in each room. The interior rooms  do not have a view.  the-most-haunted-hotel-in-chicago
 Dinner was at the Hotel with bed following, as fatigue had overcome both of us from traveling.

My Sister, lives in the suburbs, Took the train inand decided to hang out with us for the day, and help finding clues. Wil and I leaving the next day on the southern route Amtrak
I did not let her know, her son Marc, may join up with us for dinner.  Our first clue was to find her on a incoming train.  We sat in a coffee shop below ground level, and looked at the massive amount of people that kept coming off the train.  We did not know they could be in a cattle call  and forced to go two separate ways. Only half the people we were seeing.  A cell phone call located her just up the escalator above us.  It was her first train ride into the city.

Our next place, was a breakfast place. But once found, it has been closed for a year, even though their website was still current.  The guard for the building sent us down the street for a few to try. All were void of customers. It's breakfast time, so not a good sign.  We walked another block, and found a old fashioned restaurant, from the gangsters era. The food was overflowing the plates. So much we were not hungry for lunch. And so many old photos, the wallpaper, booths, freshly upholstered,  the old red felt wall paper and reminisce of the turn of the century.

Diann, Wil and I walked around looking at different buildings, and architecture. Went up to the top of a Tower for beverages, as one of our clues to go.  the cost of anything else on the menu was out of range.  Great view.

Time seemed to pass by quickly. Not hungry for lunch, we stopped back by the Congress Plaza to rest. Telling stories, as Wil and I lay ed down, practically sleeping. Dinner was approaching, and we had bought a all day bus pass. That helped from doing to much walking, by hopping on and off buses. But first we had to find the famous Gold Room

Up and down elevators, down hallways that led to locked doors. Finally on a second floor, poorly lit, we got off the Grand Elevator. But which way? Not locked doors, we were going g in circles, until I pulled in one, and it opened to a magnificent gold room.

There was a grand piano outside my sister found and played with ease. But then another circle to find the elevator, as hallways were dimly lit.

Lots of tourist and masses amount of people made for MS overload

The Dinner place was listed on skaggets by the Grand park, which we rested at.  Confusion was with the names, plaza at the park, plaza in the park. One was inside, with no people, not a good sign.  Outside was bustling, with lots of people, umbrellas and the smell of fresh food. Wrong restaurant I had emailed my nephew, Marc, but he found us. His mom had not seen him in five years, so was glad he came. Ice cream was after wards.

We took my sister to the train station, to find she had a hour till next train. As it was getting late, we sat with her for hour. This is when the night creatures come out. Panhandlers even asking you to go to ATM to get them some money. Same spiel to other people awaiting train.
The night creatures, instead of all the tourist made Chicago change. Not a place for a lady to be.

We took the train back to our hotel, fell right to sleep. The walking had made my calves hard as rock, but knew we could rest on train for next four days. portillos  Sandwich shop was found Friday morning. Best beef sandwich I've tasted anywhere.

Amtrak Train Ride through the southern states,. You need red carpet service if handicapped.   Stairs leading from the lower deck to the view car and dining car are not made for handicapped. But I was able to transverse  up and down the stairs with cane.

Poverty is extreme in southern states, as seen thru Windows of our train.

The Fire going on near mount Shasta  stopped the train in Sacramento. Most everyone bailed in Los Angeles, where the connection train was at.

Breakfast with a old timer, dressed in a suit, "Merv" who was traveling on same train was nice. He was getting frustrated with Amtrak, as they were not fulfilling their contact to get him to where he was going, or offering any solutions.  Many people were upset, as the station agent had no answers, and Amtrak was not providing any options for for this connector route closed, they knew of it A few days before. And to make matters more interesting, is red carpet lounge, led you to a elevator, to a locked room with no ventalation.  The lounge did not open on train schedules. Real maddening, as was getting overheated, with no chairs.  There was no phone, as station agent had no idea, that she was the one who was supposed to have answers on the train delay.
  Hope Merv got the next train.

There was the crew, us, and a group of few people left on the train.  Forgot about us, so we almost missed Sacramento.  The other four people decided to stay on the train, as they announced that the tracks were opened, after everyone has bailed.

 A sleeper car is the way to go, as all meals included.
 The four day Train ride made the whole adventure come together.

Thanks for reading
JoeY

Rare H63d Gene Phlebotomy and links

Rare H63d Gene with phlebotomy

I am on Phlebotomy number 13, done weekly.  The computer age allows me to see the doctors labs, which are done before each phlebotomy a few days later. Some numbers have dropped, while others increased.  Hematocrit levels watched closely, as ferritin is not a good indicator.


I was interested it HFE is a blood disorder, a blood cancer, or how it is defined, as it will last the rest of my life, like Multiple Sclerosis does. I have not read a clear answer. My Neurologist told me to ask my blood Dr at Cancer center.

Google answers asking of HFE gene,  provides a UK spelling.
"haemochromatosis an autoimmune disease?
In this severe disorder, iron builds up rapidly in the liver of the developing fetus. It is thought to be an autoimmune disease, in which the body attacks itself.

HFE link to protein government site
The HFE gene provides instructions for producing a protein that is located on the surface of cells, primarily liver and intestinal cells. The HFE protein is also found on some immune system cells.

The HFE protein interacts with other proteins on the cell surface to detect the amount of iron in the body. The HFE protein regulates the production of another protein called hepcidin, which is considered the "master" iron regulatory hormone. Hepcidin is produced by the liver, and it determines how much iron is absorbed from the diet and released from storage sites in the body. When the proteins involved in iron sensing and absorption are functioning properly, iron absorption is tightly regulated. On average, the body absorbs about 10 percent of the iron obtained from the diet.

The HFE protein also interacts with two proteins called transferrin receptors; however, the role of these interactions in iron regulation is unclear.

I found a interesting video on Facebook, or youtube. This guy uses strong magnets to show a unexplainable answer, as Iron should be pulled towards the magnet, but not in HFE.   Facebook site to iron and magnets
 His full video with explaining is On YouTube
YouTube site to full explanation

MEDLINEPLUS SHOWS HFE is
Autosomal recessive

Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families.

An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.

Information

I found a layman's term of this gene Hereditary hechromatosis

Inheriting a specific disease, condition, or trait depends on the type of chromosome that is affected. The two types are autosomal chromosomes and sex chromosomes. It also depends on whether the trait is dominant or recessive.

A mutation in a gene on one of the first 22 nonsex chromosomes can lead to an autosomal disorder.

Genes come in pairs. One gene in each pair comes from the mother, and the other gene comes from the father. Recessive inheritance means both genes in a pair must be abnormal to cause disease. People with only one defective gene in the pair are called carriers. These people are most often not affected with the condition. However, they can pass the abnormal gene to their children.

CHANCES OF INHERITING A TRAIT

If you are born to parents who carry the same autosomal recessive change (mutation), you have a 1 in 4 chance of inheriting the abnormal gene from both parents and developing the disease. You have a 50% (1 in 2) chance of inheriting one abnormal gene. This would make you a carrier.

In other words, for a child born to a couple who both carry the gene (but do not have signs of disease), the expected outcome for each pregnancy is:

A 25% chance that the child is born with two normal genes (normal)A 50% chance that the child is born with one normal and one abnormal gene (carrier, without disease)A 25% chance that the child is born with two abnormal genes (at risk for the disease)

Note: These outcomes do not mean that the children will definitely be carriers or be severely affected.

And another government page shows:

Although a direct association has not been established between HFE mutations and MS susceptibility or clinical outcome 109, a recent retrospective study on patients who were homozygous for HFEC282Y concluded that autoimmune conditions were common among individuals with hemochromatosis

 For technical readers,
Autoimmunity with Multiple sclerosis see page 18
Shows
Autoimmunity with Multiple Sclerosis:

From a different perspective, enhanced immune responses by mutated HFEC282Y may favor the appearance of autoimmunity. Various reports have described autoimmune conditions in association with hemochromatosis. In particular a higher prevalence of the HFEC282Y mutation was observed among cases of multiple sclerosis (MS) and was present among MS patients that had an accelerated onset of the disease and more severe MS symptoms 109, 110, 111. Although a direct association has not been established between HFE mutations and MS susceptibility or clinical outcome 109, a recent retrospective study on patients who were homozygous for HFEC282Y concluded that autoimmune conditions were common among individuals with hemochromatosis 15. Expression of the HFEC282Y mutation could increase the self‐reactivity of CD8+ T cells that cross the blood‐brain barrier, via increased MHC I antigenic presentation. The HFEC282Y mutation may result in an increased presentation of auto‐antigens related to MS beyond a recognition threshold causing the onset and progression of the disease, unlike HFEWT which could inhibit presentation and maintain immunosuppression 109, 111.

The Article goes on to talk about cancers also.

Iron overload is rare in patients homozygous for the H63D mutation
iron overload is Rare with H63d Gene

Excess Iron and Brain Degeneration: The Little-Known Link
Iron in the brain

 Further restart led me to Suppression of Iron-Regulatory Hepcidin by Vitamin D. Hepcidin is a hormone, so I sent the article to my Endocrinologist, and my blood doctor.







From the blood journal, Hepcidin and vitamin D

http://www.bloodjournal.org

Blood journalI. 

Treating iron overload with hepcidin. 

Liver not making hepcidin? Hemochromatosis 

the blood journal

Suppression of Iron-Regulatory Hepcidin by Vitamin D
https://jasn.asnjournals.org/content/25/3/564.full




But mine is just opposite of what article talks about, as I have High Iron. Was on 150,000 iu Vitamin D, to keep my levels up, followed by endocrinologist.  I was found initially with vitamin D in Ricketts stage. They phlebotomy has made some drastic changes to my #s increasing, along with Testosterone. Adjustments were made, to my daily regime of meds, and to retest in a month, and again two months later. Such a rare H63d gene, then doctors monitoring, I am keeping notes. Perhaps a movie or book in their making? I lowered vitamin D to 70,000 iu/week, after being off it for a month, due to overly high levels.


I belong to All of Us research program. They sent me a email back when asking about the rare H63d Mutation I have

"Indeed, the mutation you have is quite rare so thank you for bringing this to our attention.  I am happy to report that one of the very first actions to be taken by the NIH All of Us Research Program will be to sequence the DNA samples you kindly provided when you allowed us to collect a sample of your blood. This, and any other notable mutations, will be detected by the NIH team and investigators studying this mutation or condition will be notified."

 Those interested can contact

Samrrah A. Raouf
Clinical Research Coordinator
All of Us Research Program
UC Davis Health
Office: (916) 734 5772
Mobile (call/text): (916) 502-5605
Allofus@ucdavis.edu
www.joinallofus.org
www.joinallofus.org

The next question is the HFE is classified as a blood cancer?

A video from YouTube
https://m.facebook.com/story.php?story_fbid=2224175634267849&id=479163965435700&anchor_composer=false
Facebook

 YouTube iron
Shows iron in the blood does opposite.
A complete explanation is On his YouTube channel. Something scientist should look into.
YouTube explanation of iron and magnets with bloo d

Also
/UK hematochromotis
 Is another link to check out.  Haemochromatosis

Any comments or articles of research?
Thank you for reading
JoeY

Hormone hepcidin