Rare disease day

https://m.youtube.com/watch?v=7QKum6ihGyERare disease Day

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.
Join my mailing list, follow my blog!
JoeY

Changes

This last year went by quickly. Way to quickly.
Changed happening, seems like daily since  mid 2019. Guess that's why I named this blog everchangingms.blogspot.com

A quick change of Doctors was needed. My Neurologist that injects me with botox went on medical leave in November, having me scramble to obtain meds prescribed, and a new person to administer Botox. This won't happen until February 2020, as how busy  Specialized Neurologist are. So dealing with Charlie horses, cramps, stiffness and neck spasms.  The quinine works wonders, but limit its use. I think the neck spasms are upsetting the degenerative did disease.

Then came my GP. Highly recommended by the main Dr at the clinic, who was watching over me until he had a new Dr hired. I had entered with extremely high hopes.

Some Drs are not made for patients, or some patients not made for Drs.  I let him give his talk, with my blood pressure  rising even higher, as what he was saying, never touched or examined me.

The most frustrated I have ever been. He should of had my heart rechecked, as knew extremely high entering. He left in huffiness.  I then left, almost in tears, not making another monthly visit.

But then good news, was I was able to get a  new GP who actually took the time to read all my specialist reports.  He is doing his internship at UC Davis  He Looked at blood levels, and re ordered some that were in concern. Spent a lot of time with me, and concerns.

Then came the insurance change. CVS bought Aetna, who had purchased my drug plans over the last eight years. The USA government said CVS was to big, and made them sell off their drug plan.

Their new company was doubling my rates, with less coverage, and deleting other drugs.   I emailed  Debbie from Area 12,  who helps elderly people find plans. She had helped me eight years ago.  She did find me a drug plan, that covered most of my meds, requesting Prior Authorization for a few. That brings us almost current to 2020, but not quite.

A MRI was scheduled after seeing my neurologist, of my neck and brain in December. However  New symptoms started about a week later. Tingling electrical zaps going down into my fingers on my right arm hand.   Another appointment was made to go over the MRI. But looking at this, I do not think they compared it to original, so left my team a message to do that. The main two lesions in my brain looked unchanged, but my degenerative disc disease in my neck progressing.

Two years ago, the pain jab in my right shoulder was so extreme, I switched GPs, as one said I tore the rotator cuff from across the room, doing nothing. A new Dr scheduled a MRI, showing two discs bulging into nerves. I failed at prednisone injected. A surgery was scheduled, but cancelled, when they could not tell me what was causing the pain.  MS or the discs.  Best decision not to have surgery. There xray machine was more powerful than the MRI machine at our local hospital. There was nothing to attach a metal plate to, as osteopenia. 

Then both the H63D gene (  Link https://rarediseases.org/rare-diseases/classic-hereditary-hemochromatosis/#general-discussion ) were found mutated, when certain  blood levels were off, causing Iron overload. hereditary Hemochromatosis WebMD

if they needed to give me blood, for every quart out in, two quarts would need taken out, as it would attack my body, creating me to make more iron. This goes for raw shellfish, or their shells  also.  So no surgeries was added to my DNR.
17 phlebotomy, left my body with no iron, slightly anemic, which comes with its own problems.

on a good note, my Cardiologists said my heart is the best thing going for me.
Hypertriglyceridemia (Medscape) going on though. A Drug Fenofibrate  see this link,  was used, but I've ended up as less than 1% of the population of a side effect that raised my creatine to alarming rates for five of my doctors. This was stopped, replaced with Vascepa. https://vascepa.com/

Our Westie and Poodle, Dixie and Armani

December also brought a huge skin rash from A Copaxone injection. I had UC Davis look at it, and the Copaxone Nurse. I am now limited to injection areas, as have no fat to inject into. So my Neurologist had me look at  ocrevus.com And mayzent.com to look at.

And yes 2020 now. Need to go on more short Amazing Races.
Enjoy the Quality of life,  All my Drs know is goal to maintain.

2020 brought that into full perspective, when a neighbor passed away, and days later their son, who went to school with my partner.   I've known for 20 years .
his mom has Alzheimer, which complicates this all. His partner has taken it quite hard.  She will end up in nursing home for a short time.

I will leave in a good note.  My partner and I did a DNA and Gut sample kit that may give more inside info on health and Gut issues..  Looking for Genes that may be related,  medication on how it's used, or not being used,  and conditions I may have control over.

Another MRI is scheduled,   a interview with Families USA for my next blog. A federal to many more specialist.

Thanks for reading.
Join my blog email. Give me feedback if you have tried any of meds.

JoeY