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Showing posts with label DNA testing. Show all posts
Showing posts with label DNA testing. Show all posts

Sunday, September 6, 2020

H63D/H63D genes and MS

 

https://youtu.be/rnKbImRPhTE?list=RDrnKbImRPhTE
For those who want the background music.


Multiple Sclerosis and having  H63D H63D  genes

Yes, A autoimmune story that requires a lot of research.


I find that I fall into the less than 5% that have the two copies of the H63D genes that cause Iron overload.  It began a few years back, when my endocrinologist was not obtaining lab results that she wanted.   I have been on Testosterone Therapy since the beginning of my multiple sclerosis

Most people with MS  have a deficiency of vitamin D, and also, Testosterone, and yet another one I found... Low Bile  Acids, which I will have to talk about later.

My Vitamin D was in ricketts stage when it was checked. I now stay in the #80's range, to be high for neurologist, but low enough not to get calcium in blood.

My pituitary Gland had a  MRI done. This meant I had to get off the real Biotin trial I was on for eight months, and give up Testosterone for six months. The Testosterone is hard to quit cold turkey.

But this still showed abnormal blood results, thus I was referred to the Cancer Clinic. The first Was, its caused by testosterone. I told him no, and he agreed for more testing. The first DNA, came back normal. 

 A Good GO, was my primary, and he mentioned the H633D Dna test. Right track, as that is what my cancer Dr ordered. The test came back with two mutated copies of the H63D gene, causing me have Haemochromatosis


17 phlebotomies, or for my UK readers, veins punctures to drain blood from me

It came out as thick as pancake batter.



Nord was joined. 


https://rarediseases.org/


I joined Rare Patients Voice

https://rarepatientvoice.com/



 in USA,  I had only found eight others with who had iron overload caused by the gene Mutation. They provide paid surveys for researchers, and anybody to join


I went back on my mothers side to a fourth grandparent and down that line, when a fith cousin responded. He was 74 years old, but Dr had him on blood thinners. His 23andme data showed the H63D gene. His Dr confirmed Haemochromatosis, and with the  double H63D gene. 

Now I know the one side of family link being passed on by generations. Do not know the other side, though. A Multiple Sclerosis Mystery also. Sanyogenetics.com Sanogenetics.com has my DNA, which has many MS genes it points to in a earlier blog.




H63D & S65C ~ The Forgotten HFE (Haemochromatosis) Mutations

Private group on Facebook was found earlier this year. 

https://m.facebook.com/groups/2309415149302702/



This led to a lot more research.

Checkiron.com



Youtube up to date info on CHECK IRON

Using this research tool, it allowed me to find another gene, The pro589Ser.


"Risk Score for HH Type 1 is 7.9

Coverage 42.46% for 23andMe


You are homozygous H63D which causes iron overload in 5.4% of cases but this is strongly increased by the Pro570Ser mutation.


H63D Two copies of H63D, 5.4% chance of iron overloadHFErs1049296(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."


My info, so I do not loose

http://checkiron.com/ci/resultsMV2.jsp?id=aeb2f92e034f413fa35f9e60d19ab533#home

http://checkiron.com/ci/resultsMV2.jsp?id=aeb2f92e034f413fa35f9e60d19ab533#home

Made for interesting research, as other genes were looked at. Wonder if they could add auto immune diseases, like find...  but Sanogenetics is covering this.


A find that my Endocrinologist thanked me for.


I Still have MS, with its daily tolls, and unknowns.  Botox was increased from 300 units to 500 units, trying to keep my spastic muscles that are overly stimulated by my MS. Many muscles In the calf and into the neck region. All guided by computer rhythm, but more by the professor neurologist that knows the name of each muscle, and what they control. I can feel when he hits the deep muscle that is hard as a rock.  This keeps me mobile with a cane.

https://rarepatientvoice.com/EverchangingMS/

Than you for reading. Hope some of these links will be helpful

JoeY