Monday, August 13, 2018

SI Joint Pain and Bursitis in both Hips

It looks like 23andme does not test for enough markers relating to psoriatic arthritis and ankylosing spondylitis.  I recently developed what definitely appears to be SI joint pain on the right side of the my lower back.  I had hip bursitis on my right side since 2013 and now I have it on my left side.  I am going to see a doctor on the 27th.  I'll let her know about my suspicions.  Perhaps I need to take a genetic test given that my mother developed arthritis relatively early in her life.  We'll see.

Thursday, July 12, 2018

Chromosome 9: Rare and Uncommon Variants

I found a few rare and uncommon variants tested for by 23andme on Chromosome 9.

ABCA1 rs9282541 with an MAF of 0.006 is a missense, nc transcript variant but deemed benign according to dbSNP.

GLIS3 rs10974342 MAF = 0.0134 is an intron variant, and not deemed deleterious so far.

Monday, May 7, 2018

Joint Pain Update: Gout or ... ?

Beginning about two months ago I noticed that my joint pain suddenly started to go away.  I suspected that the warmer weather may have something to do with it.  The stiffness in my fingers went away and my right thumb soreness disappeared.  My lower back pain is almost nonexistent.  Since I don't think my family reads this blog, I'll state what I think the real reason is for my joint pain going away.  I'm glad I can now stand for more than two hours without aggravating the bursitis (which is almost gone too).

Last week I started to suspect that something else was going on, so I took the test, and found out that I'm pregnant!  I barely had any symptoms.  My belly was just getting "bloated" and was like that for several weeks before testing.  I may be as much as 11 weeks along!  I'm now wondering if I really do have some kind of autoimmune disease, but not showing up in the blood work yet.  Such diseases can go into remission during pregnancy, because the immune system is suppressed.  I forgot what it felt like to not have bursitis and stiff fingers, it's nice to be able to feel more normal again, except for the bit of nausea and pregnancy brain!  It will be interesting to see if the arthritis and bursitis return after the pregnancy hormones wear off after the birth.  I'll definitely let the doctor know about the loss of symptoms during pregnancy.  I'm not sure that gout would just go away like that during pregnancy.  What I'm experiencing could be more consistent with having some kind of autoimmune disease.

If that is the case I need to figure out what I need to do in case it is an autoimmune condition.  Some major life changes may need to be made.  Maybe I need to eventually go back to work as an engineer to pay for proper medical care, save money up so I can get help from a nanny here and there, later on pay for someone to help me with my aging parents and mother-in-law, get more help with household chores.  These kinds of illnesses can get really expensive really quickly.

My husband told me that he's hoping that the arthritis would go away and never come back.  But that's wishful thinking.  There are days now, that I hope that my genetics would catch up with me, I'll keel over from a brain aneurysm when I'm fairly young and he's gets a big fat life insurance check, starts a new life with the farming wife he did not know he wanted before he married me.  He also tells me never to hope for the aneurysm, because he wants to live life with me.  So sweet, but I'm beginning to think I'm not a great match for him in so many ways.  Sure, I'm sweet and really do want the best for him, but there's a lot he'd like to have that I'm not cut out for providing for him.  He wants the wife that bakes bread, makes jam and preserves, loves tending to the garden, adores the backyard chickens, does not mind having a dog to care for, does not shy away from hard work outside, and loves to cook really tasty meals, gets up early to make him a hearty breakfast every morning, homeschools her kids real well, etc.  But he married someone who is more of a "career woman" who would not mind sending her kids to private school, who pays for vacations with the kids and hubby, hires a babysitter frequently so I can go out to eat with my husband at a nice restaurant and watch a movie afterward, hires a lawn crew to mow our lawn so my husband does not have to, goes on fun outings with the kids on the weekends, buys food to take to church instead of cooking it myself, able to buy nice gifts for friends and family, etc.

I did not choose to have this pathogenic allele, rs1799895 in the SOD3 gene with a frequency of 2.4% in the general population.  I think there is something to it, because my grandmother died of a brain aneurysm at the ripe age of 43.  My father almost died from a brain aneurysm as well.  I have a mutation on the ROS1 gene that also makes more susceptible rs619203.  Sometimes life gets hard and it seems like an easy way to go.  My dad says that he just remembers blacking out and then waking up in the hospital.  So there's the good news, my daughter is getting a sibling if all goes well.  The bad news, the symptoms going away could mean I actually have an undetected autoimmune condition.  My life may end up being really miserable for various reasons, being chronically sick, not being cut out for the lifestyle my husband wanted (subsidence farming anyone?), not being able to afford good medical care if I cannot work for a while, feeling bad for increasing the cost of living because of my illness and all the help that comes with it, etc.  It's looking more like I do not want to stick around that long.  I know it is selfish to want to want to go, but I know my husband and kids will be ok.  My daughter is truly the sweetest of the sweet and cutest of the cute.  She sleeps well and has from an early age, she is the most adorable baby/toddler I have ever seen, she has a great sense of humor, always laughing and giggling.  My husband is a sweet hardworking man and I'm sure he'd make a better decision about the next person he'd be with.  We'll see what comes of the genetic component.  I'm not sure there really is anything I can do to prevent an aneurysm, but all I know is that it could potentially put me out of my misery if things go south from here.

Wednesday, March 28, 2018

Dr. Google: Possible reasons for low white blood cell count and and bruising easily?

While shopping for a dress yesterday I noticed a large bruise on my leg.  I do not even remember how I got it.  Then that made me ask "Doctor Google" what could make me bruise so easily and potentially be a cause for a low white blood cell count at the same time.  The potential reasons were many:
  • Chediak-Higashi syndrome
  • Hairy cell leukemia
  • Hypersplenism
  • Lupus
The first is a rare inherited immune condition so unlikely.  Hairy cell leukemia also comes with other symptoms like fever, weight loss, weakness, abdominal discomfort, so probably not the case.  Hypersplenism?  Well that could be due to beta thalassemia (inherited blood condition), chronic lymphocytic leukemia, malaria, TB, renal dialysis ... probably not... and also possibly due to rheumatoid disease (another name for rheumatoid arthritis?), connective tissue diseases, and inflammatory disease.  Lupus is probably not the case since the ANA test was negative.  Perhaps chronic gout could be the culprit, but the uric acid was normal.  For gout to be uncontrolled, the uric acid needs to be elevated enough to trigger the immune inflammatory response.  Gout is an inflammatory disease but so is rheumatoid arthritis.  There apparently is also a type of RA that would yield a negative result on the rheumatoid factor test and possibly the ANA test.  Most have positive RF so RA is possible but not likely at this point.  Psoriatic arthritis and ankylosing spondylitis could yield negative results on both the ANA and RF tests. 

Time will tell what the issue is, but it looks like some sort of inflammatory rheumatic condition that is slowly progressing.  And my spleen may not be so happy. Right now, I feel the best I have in weeks.  This week, my joints are not as sore and my fingers and thumbs not as stiff in the morning.  I still have the bursitis but went shopping for more than 2 hours yesterday and forgot I had it.  I wonder if this is what people call "remission".    

Monday, March 26, 2018

Chromosome 8: Rare and Uncommon Variants

A few uncommon variants were tested for by 23andme on Chromosome 8 that I found:

rs4994: ADRB1, MAF, G = 0.115, missense, susceptibility to having obesity, heart trouble, gout, and possibly other conditions according to SNPedia.

rs17368310: : PKHD1L1, MAF, C = 0.0545, splice donor variant.  The gene is associated with polycystic kidney and hepatic disease 1 (autosomal recessive).  Not sure if this variant would contribute to the condition.

rs10088218: LINC00824, MAF, A = 0.0867, intron variant.  Half the risk for ovarian cancer if AA according to SNPedia.

rs2705293: LOC401478, MAF, C = 0.1274, intron variant.  May contribute to neuroticism.

Friday, March 23, 2018

Psoriatic Arthritis and Gout?

Someone recently suggested that I look into the possibility of having psoriatic arthritis.  My first thought was that I do not have psoriasis, but I looked into it anyway.

I've had an ugly toe since high school, but thought it was a lifted nail bed from running cross country.  There's also a spot on my scalp that feels more flakey to the touch and has not gone away.  Never thought much about it.  Only one toe is "ugly" but those others so far are unaffected.  There is some genetic susceptibility to developing psoriasis.

rs1265181: CG, MAF = 0.101. Increased risk for developing psoriasis
rs1265159: POU5F1, AG, MAF, A = 0.1569. 5x risk for developing psoriasis

There also seems to be an association with psoriasis and psoriatic arthritis with the development of gout (read here).  I currently do not have high uric acid but had what appeared to be a gout attack in 2014.  I also have a lot of genetic susceptibility for developing gout due to the ABCG2 gene.  One interesting statement is, "For men and women with both psoriasis and psoriatic arthritis, the risk of developing gout was nearly five times greater compared to participants with no psoriasis or psoriatic arthritis."  I suppose having both psoriatic arthritis, an autoimmune disease, and gout, a crystal induced arthritis, is not so far-fetched after all.  Since my rheumatoid factor was negative, psoriatic arthritis is a possible cause for the polyarticular joint pain despite keeping my uric acid within the normal range.  PsA may fit the bill because:
  • Lifted toenail, dry patch in scalp
  • Bursitis in the right hip preceded the gout attack
  • Low white blood cell count, which could be due to an inflammatory or autoimmune condition
  • Rheumatoid factor was negative
  • Genetic susceptibility for gout and psoriasis
  • Was 31 when I develop polyarthritis
  • Had gastrointestinal issues at one point
  • Had a gout attack
  • I still have more joints getting affected even after controlling my uric acid level
  • Started having persistent lower back pain
  • Could cause symmetrical or asymmetrical joint pain

Hip Bursitis Probably From Inflammatory Arthritis

After doing a little bit of online research, it looks like I have had hip bursitis since the fall of 2013.  Then the gout attack during February of 2014.  The only thing showing up in my blood work as of March 2018 is the low white blood cell count.  My uric acid level was well within the normal range.  Bursitis at my age could be due to an underlying inflammatory arthritic condition.  People normally do not get bursitis so young.  Could gout be causing this?  Or is this an early sign of a milder form of rheumatoid arthritis?  There is a such thing as seronegative rheumatoid arthritis, where the blood work is negative.  Polyarticular gout or rheumatoid arthritis brewing under the radar would be my guess as to what's going on with me since the hip bursitis never went away.  

SI Joint Pain and Bursitis in both Hips

It looks like 23andme does not test for enough markers relating to psoriatic arthritis and ankylosing spondylitis.  I recently developed wha...