Undiagnosed, Over Diagnosed, Misdiagnosed

imag1149This has been quite a journey and I am only 2 1/2 years in.  After 40 years of being relatively healthy, I woke up sick one day and have never turned back.  I have been to 16 doctors in all types of fields.  I actually feel like I am just being ping ponged between specialists because no one wants to be the one to take on my problems.  Maybe I just haven’t gotten the right referral yet.  My first official diagnosis was Allergies.  Hayfever, dogs and mold.  With the mold tests I had a delayed reaction that turned into blisters.  The doctor was surprised, he had never seen anything like that.  Yet, he did not feel he needed to investigate further.  He could find no food allergies which is why I ended up there in the first place since my stomach always looked and felt like it was going to explode.

So, as all chronically ill people do, I turned to Google.  Constantly plugging in my symptoms, reading and researching.  After several months of suffering, I came across Endometriosis.  It took some convincing and several visits to the Gynocologist to get her to look for it.  I demanded a tubal ligation.  I was done having children anyway.  She went in and sure enough, it was Endometriosis.  I now have my tubes tied AND take hormones for birth control. She wasn’t a “skilled enough surgeon” to remove it.  Her words, not mine.

20150823_060632I began the allergy pills.  I began the hormone shots, but there were some things still happening to me that could not be explained.  With each hormonal cycle (you still have them even when on Depo Provera), I walked with a limp.  I kept asking, what does my vagina have to do with my ankle??  As a friend said, the vagina bone is connected to the ankle bone…yeah, I don’t think it quite works like that!  Then one day after going to the fair, the veins in my ankle exploded.  I thought it was a rash.  Maybe I had gotten into something.  I went to the doctor.  Mine was out that day.  The replacement sent me for an ultrasound because he was thinking blood clot.  No, all good.  My right leg measured an inch and a quarter bigger than the left.  A month later I brought this up to my regular doctor at my physical.  I showed her the picture.  She decided to do an ANA test.  Pain, stomach problems, peeing blood, now this.  She was sure it was Lupus.  It came back low positive 1:80, but I had several different patterns which concerned her.  She did an ENA – negative.  She sent me to the Rheumatologist anyway.  He ran a ton of blood tests and did xrays on my low back and ankle – pain areas.  It came back that I have Arthritis in both places.  I added daily Meloxicam to my pills.  Upon my next few visits, because I continued to complain of my problems, he threw in the diagnosis of Fibromyalgia and IBS and referred me to a Gastroenterologist to confirm.

A year and a half after having a sleep study done, someone decided to go over my results.  Insomnia and Severe Periodic Limb Movement Disorder.  Add Gabapentin to the growing list of meds.  After many expensive tests, including a lovely colonoscopy, the Gastro found I have gallstones.  It took 2 years, 2 ultrasounds, 2 different Gastroenterologists, a HIDA scan and colonoscopy to find something as simple and common as gallstones.  Surgery was recommended.  At this point I passed on that.  I am stubborn.  If they won’t remove the Endo, then leave the Gallbladder too!

In the meantime, I turned to a chiropractor for help with the migraines.  He found on xray that I have “military neck,” as he called it.  I have lost the curve in my neck completely.  At least his treatments do not involve pills!  And he has all but cured my migraines!  If I go too long between visits, they start creeping up again, but in the meantime, he is able to keep them at bay.

The Rheumatologist did another round of blood tests.  Add Vitamin D deficiency.  More pills.  While we are at it, let’s double the Gabapentin since I am still not sleeping.  Finally, some relief!!  Four months flare free!!  I was finally able to exercise!  Finally getting back out there and socializing again, though I had cut many people off of my “friends” list when they abandoned me during my time of need.

Out of curiosity, I had my DNA done.  I still felt like something just wasn’t right.  I do not like being completely dependent on all this medication.  These pills are only masking the real problem, not fixing it – whatever it is.  My DNA came back that I have 112/129 genes for MS.  Well that was something we hadn’t considered.  So my doctor decided to order a brain scan.  No MS, but they did “incidentally” find that I have something called Empty Sella Syndrome.  My pituitary gland is flattened to the point that it cannot be seen on MRI.  The pituitary is involved in almost every hormonal process in the body.  Interesting that my flares coincide with hormonal fluctuations.  She decided since I had already had my TSH and T4 tested, that we should check my Prolactin.  Upon further investigation, I read that the Pituitary is connected to insulin production and asked that she check my A1C as well.  In fact, last time I was at the eye doctor he saw cholesterol deposits and suggested I have my cholesterol checked as well.

As usual, after a week of waiting, I contacted the office.  At the end of the day the nurse called back and said my results were all within normal range except for my “Good Cholesterol” and I should exercise more.  Ah, yes, the proverbial – your obesity is causing all your problems.  Not to mention the 25 pound weight gain thanks to all of these medications.  I emailed my Gyno (she prescribes hormones) and told her of the Empty Sella and TSH, T4 and Prolactin tests asking if she thought there were any other hormones that should be checked.  Of course it has been a month and a half with no response.  I guess I will ask in person in November when I have my exam.  Perhaps I just need someone to refer me to an Endocrinologist.  Maybe I just need a doctor who cares and is willing to try to put this whole puzzle together.  Finally, a month after my testing, my actual blood test results showed up on my online chart.  Every one of them were flagged.  LDL too high. HDL too low, A1C 5.9 – pre-diabetes.  Yet the nurse said everything was within normal range!!

After my initial anger, I realized that none of the numbers by themselves is anything to worry about.  In combination with everything else, I wonder.  I still feel like there is something they are missing.  Something that ties it all together.  Autoimmunity?  It all seems to be connected.  Endometriosis causes inflammation.  Rampant inflammation causes arthritic damage.  A lack of vitamin d causes pain.  High cholesterol – deposits in the eyes and gallstones.  But how, why did it all begin??  And how to fix it??  And WHO CARES???  Where is Dr. House?  Where is the doctor that is supposed to want to get to the bottom of it?  Hasn’t anyone asked, why does it take up to 7 years for a definitive diagnosis of an autoimmune disorder??  Interesting that that is also the number of years women with Endometriosis often go undiagnosed for.  Is there an autoimmune connection to Endo?  Many suspect there is.  In the meantime, I will keep popping my pills, taking my shots and complaining when I need to.  There is an entire community of people out there that are among the undiagnosed, over diagnosed and misdiagnosed.  Those are my people!  Together we suffer.

Me and My Empty Sella

COFFEEThe week of my MRI, my daughter moved in with her boyfriend.  It is closer to school and work for her, but it made me so depressed.  I was a single mom for the majority of her life and every decision and choice I made was for her.  All of a sudden, I am alone.  Empty nest.  I know she had been preparing me for this.  As high school went on she was home less and less.  Work, school, activities.  Then after graduation she spent the summer coming home just 2 days a week.  And now she is gone.

The day of my MRI, I go in and of course the machine is down.  They rebooted 2 times and finally had to unplug it and plug it back in.  That gives you real confidence…  The workers (I assume they were technicians?) were very nice, but they took my glasses when I got there and put them in a locker with my purse so I really couldn’t see anything but the color of their clothes.  They asked if I was claustrophobic, I said I didn’t know because I never really tested it before.  I had just had that conversation with my husband that morning.  They had me lay down with my head in this cradling pillow.  Then they stuffed something down beside both of my ears.  First they take my sight, then they take my hearing!  Then they put on the face mask I had seen in pictures and videos of head scans.  I wondered if I looked like Hannibal Lecter.  I was in my regular clothes and had warned them that I had metal on in my bra.  She said that was fine.  For some reason I was under the impression I would break the machine with it.

The scan was completely painless.  It wasn’t loud at all because of the ear muffs or whatever they had given me.  I warned them that I was a gusher when they were getting ready to give me the dye.  She said that was good to know.  I explained when I had the HIDA scan I forgot to warn her and made a real mess.  The whole thing was over in about a half hour.  They said the radiologist would look at them in the afternoon and I should have my results by the end of day and if not, call my doctor in the morning so I wouldn’t have to worry all weekend about it.  I laughed.  I said you don’t know my doctor.  She is probably on vacation and I will hear back in 3 weeks!  She said she hoped not!

Friday I couldn’t take the waiting anymore so I called the office.  Surprise, surprise.  No she won’t be in all day.  Great.  Monday Jason called me (he was wearing black that day) and asked if I had gotten my results and asked how I was feeling.  I told him feel fine, my normal anyway.  I said no, my doctor had been out of the office Friday.  He apologized and said he wished I could talk to the radiologist directly, but that isn’t allowed.  That scared me!  WHY? What’s wrong??

Monday afternoon I called my doctor’s office again.  I told them I had an MRI Thursday and was still waiting for the results.  They explained that Jyl had been on vacation the entire week, not just Friday and her schedule was full on Monday besides having a lot of calls to return.  Oh, well excuse me for wanting to know!  They asked if I had left a message and I said no.  They said they would give her the message that I called.  Why is getting test results like pulling teeth!?  I thought this was the doctor I liked.  Now I am wondering.

Tuesday morning I took my phone to the bathroom with me.  I had been carrying it religiously since the scan.  She called.  She went over the results.  Everything was fine, brain, veins, etc etc.  Then she said, “There is a side note here.  He said you have empty sella syndrome.  Apparently your cerebral fluid has pushed into a space where it doesn’t belong and has flattened your pituitary gland to where it can’t be seen on the scan.  I am sure it is there or you wouldn’t be alive.  I will be honest with you, I have never heard of this before.  I had to look it up.  You may want to google it.”  She went on to say, “This could be the cause of your headaches and visual disturbances.  Have we ever checked your prolactin levels?”  I said no, I have never heard of that so I’m sure we haven’t.  She said, “There is one symptom listed that I don’t remember you ever mentioning, do your breasts leak?”  NO!  But that happened to my sister once when she was in exercise class!  I mentioned that at my last eye appointment the doctor mentioned that I had cholesterol deposits in my eye and next time I had blood work I should have my cholesterol checked.  She said ok, but you have to fast for that.  OH, GOD!!  I told her she is killing me!  At least I have insomnia.  I will get up at 2, drink my coffee and then fast the rest of the day.  She laughed.  When I can’t have my coffee I get headaches so bad I want to throw up.  Yes, it is an addiction…

I get back to my desk in a daze.  I have to look this up.  I put the word out to my support team and they hadn’t heard of it either.  So I started reading about this empty sella syndrome. Everything contradicts itself – imagine that! Another disease of theories. Some say it is as rare as 1% up to as common as 25% of the people have it.  Theories of causes are traumatic brain injury – haven’t had that. Child birth (pushing so hard it causes intracranial pressure enough to break through the membrane). Idiopathic Intracranial hypertension could be a cause – that is checked by a spinal tap. Inflammatory autoimmune disease (like Lupus) could be a cause. So they say most people that have it don’t experience any symptoms (or are the doctors just not listening??) But some have headaches and pituitary dysfunction. Turns out the pituitary is involved in EVERY hormonal process. I suppose you would need an endocrinologist to figure out if it is effecting any of your systems and we don’t have one closer than an hour away.  One of the possible symptoms is that you can leak brain fluid out your nose!!  How would you know??  Every time I get a cold or my allergies are acting up I am going to worry that I am literally blowing my brains out!!!

The tests for many of the hormones are long and drawn out. But my doctor said since my flares go with my hormones, it is very possible something is effected by this.  I called her back after my research and asked her to check my A1C since it can effect insulin and diabetes runs in my family. I have already had my thyroid checked and that was fine (even though it was on the lowest “normal” level. Then there is a long list of other hormones that are nearly impossible to test. Cortisol, FSH, ATCH, etc, etc. I just felt so down (the fasting for bloodwork probably didn’t help). It just seems like it is never ending. Why can’t it just be like – it is this and here is the cure?!?! When I read that it is usually “incidentally” found on brain scan, I was like, if someone wasn’t experiencing any problems, why would they be having a brain scan?!? They say it isn’t hereditary, but oddly enough, when my niece was like 8, my sister signed up for an exercise class. During the class, her nipples did start leaking. She was like what the hell??? She hadn’t had a baby in 8 years, she shouldn’t have had any milk. Can’t help but wonder if she didn’t have it too! She was cremated with no autopsy so it isn’t like I will ever know. I read one page on Chronic Fatigue Syndrome where they were proposing a study. Apparently it occurs higher than average in people with chronic fatigue (that was the theory), but I don’t think they did the study. Like endo, doctors don’t seem to care. I’m so depressed.

More tests.  More waiting.  I feel like my life has been put on hold for the last 2 1/2 years.  After a week of not hearing anything, I called.  The nurse finally called me back at the end of the day.  Everything was great.  All of my tests came back perfectly normal.  Of course they did!  I am the healthiest sick person you would ever meet.  At that point I had had a headache for 3 weeks solid.  Every waking moment.  I just want to yell and scream!!!!  Those tests were good enough for her and we are done investigating.

I put out the question in a support group.  Anyone else have this?  Is there a connection between this and endo?  I got a response.  Then the group admin said there had been no studies on this and closed my thread.  I messaged the woman who said she too had it.  I had a lot of questions.  She has Idiopathic Intracranial Hypertension.  She has to get periodic spinal taps to relieve the pressure of too much fluid, but she said it makes her head feel so much better.  Well, that’s depressing.  My doctor doesn’t seem concerned so I guess we will never know what caused mine.

I tried another group I am in for chronic migraines.  Anyone else have this?  Another response. She has Idiopathic Intracranial Hypertension as well as Chiari syndrome, but never heard of Empty Sella.  Sympathy, but not much help.  I put it out on my Facebook page.  Anyone else??  I got a response from another Endo Sister. She has it and the prolactinemia.  She takes a dopamine agonist.  That was one of the choices my doctor offered me for the insomnia and leg movement disorder.  I chose not to take it because side effects were hypersexuality, addiction and gambling problems.  That was the LAST thing I needed!!  She said it made her lose a lot of weight – I could use that!  And her addiction isn’t bad – chocolate milk shakes, which she doesn’t like but her brain tells her she needs.  I could go for a chocolate milk shake addiction that still allows me to lose weight!!  Unfortunately, knowing me, it would be the hypersexuality.  My husband couldn’t take it!  She leaks brain fluid from her nose and told me it is watery and pink.  Good to know!  I will keep my eye out!  I don’t think I have ever had that.

I debated.  Should I push the issue?  Should I keep looking or just give up?? My intuition (or maybe it was the depression) said just give up.  But part of me, the one that drives me to constantly read medical articles, said send a note to your Gyno.  She is the one who gives you the hormone shots.  Maybe she knows something. So I did.  Last Friday.  Today is only Wed. and I haven’t heard back.  I explained that the MRI showed Empty Sella Syndrome and my pituitary is smashed.  My TSH, T4 and Prolactin levels are all within range.  Should I have more tests?  I don’t know why I asked her.  She is the one who thinks endo is no big deal.  I get to see her again in November.  Lucky me.

I keep praying for an answer, but I guess I need to be more specific in my prayers.  Who knew God played with semantics?  I don’t want an answer like, your tests came back fine.  I want an answer to explain what happened to me that 2 1/2 years ago made me just wake up sick one day never to get better.  Sure, Endometriosis, Arthritis, IBS, Fibromyalgia, Vitamin D Deficiency, Insomnia, Severe Periodic Leg Movement Disorder, Allergies and Gallstones – Those are all answers I have received.  That’s why I have a handful of pills every day and hormone shots regularly.  But how could all of this happen over night?  No one cares enough to investigate further.

Doctors and Genetics

I have spent hours going over my genes.  Some people I have talked to or shared my reports with have asked me, “weren’t you afraid to know?”  The answer is no, not really.  I already know my family medical history.  I know that my paternal grandmother died of Cordoma (cancer of the spine).  I know my maternal grandmother had a stroke.  I know my paternal grandfather had his first of five heart attacks at age 48 and my sister passed from hers at 43.  I know my uncle died of cirrhosis and my other uncle brain cancer.  I know my paternal grandfather also had osteoporosis and Alzheimer’s, which is what finally took him.  My mother and daughter have peanut allergies and asthma. I even have an uncle with adult onset ADHD. Alcoholism is rampant in my family.  None of those genes surprised me in the least.  Based on what I have been through these last two years and meeting new distant relatives found in my family tree, I wasn’t even surprised I have many genes related to Crohn’s.  The part that surprised me was all of the genes related to MS.  No one in my family has ever had that, as far as I know.

Because I have an insatiable appetite for knowledge, I extensively researched that disease.  It is often misdiagnosed as Lupus (which is what my doctor thought I had) and Fibromyalgia, which is what my rheumatologist diagnosed me with.  Besides genetic risk factors, other risks are smoking and living in the northern hemisphere – due to vitamin D deficiency – which I also have.  It not only causes chronic pain, but also stomach problems, brain fog, eye problems, headaches, sleep disturbances and menstrual problems – all of which I have.  I couldn’t believe that I never looked at that disease before.

Before my last rheumatology appointment, I contacted the office and told them that I had had my DNA done and asked if my doctor would like my results.  They said yes, bring them to your appointment.  I have never been impressed with this clinic before and the doctor is underwhelming at best.  He had a new nurse this visit.  She was young.  She comes in and tells me that the doctor has an intern.  Then she tells me the guy is creepy and like 70, but good for him for going back to school.  She told me not to worry, he was just following the doctor around and not meeting alone with patients.  I thought that was a bit unprofessional for her to say, but whatever.

People talk to me differently than they would talk to most people.  I remember one time when I was working at my father’s gas station a woman came in to pay and told me she had just been diagnosed with cancer and that her daughter, who was outside washing the car windows, didn’t know yet.  Sometimes I wonder, what in the world am I supposed to do with that information?!  But I guess my young, cherub face must bring out some kind of confessional in people.  At 42, nothing people say to me surprises me anymore.  At 20, that news was tough on me – and I didn’t even know the woman!

The nurse was completely fascinated with my genetic report and told me she and her husband were considering having it done.  She asked where I got it and how much it costs and asked if she could look at it.  I told her, “of course.”  She flipped through the 16 pages of bad genes that had a magnitude of 1.5 or greater – that was the report I printed.  Every once in a while she would read one out loud in surprise, “You have a gene for a peanut allergy!?!”  I shared my mother and daughter are both allergic.  There are actually two of those genes in there.

When she left, the door opened and it was the intern – alone.  I chuckled because he was clearly in his late 40’s or early 50’s.  When you are young, everyone older than you looks old.  He asked how I was doing and I told him, great!  I haven’t had a flare since March.  This is the longest I have gone in 2 years.  I have even been able to begin walking 5 miles a day and even took a belly dance class with my mother and daughter.  I wouldn’t have been able to do that a year ago.  No stomach problems, no pain.  I feel like my old self!  I am even socializing again.

He left and the doctor came in.  He said, “my intern tells me you feel better?”  I told him the same thing I told the other guy.  He leans in and says, “That is great that you are walking now, but we need a plan in place for what you will do in the winter.”  I told him we have a gym at work.  He follows up with, “Now that we have you exercising again, we need to work on the weight.”  He makes a circling motion in the air with his hand towards my stomach area.  This guy irritates me to no end!!  He basically listed a bunch of fad diets I could try.  He goes on to pretty much say that my “Fibromyalgia” is doing better, not because of the handful of pills he has me taking everyday, but solely due to the exercise.  What a creep!  He didn’t even mention the Vitamin D – which was clearly the key to it all!  I had my blood drawn before the appointment and he went over the results.  My GFR (kidney function test) has now fallen to 58.  Chronic kidney disease – which my aunt now has – begins at less than 60.  I have now dropped 40 points since all this began two years ago.  He told me he isn’t concerned at this point because the Meloxicam that I am taking is hard on the kidneys and liver.  He said to make sure I drink plenty of water – dude, I am waterlogged daily, that is not an issue!  How many times in a day can you pee?  Obviously a lot!

When he came in, he had laid my genetic report back on the desk.  He turns to it and condescendingly patted it.  He said, “this is all Greek to me.  We didn’t study this in school.”  Um, even my chiropractor had to take a class in genetics!  He said, “I’m not going to put this in your medical file.  I think the best place for this report is in your file at home.”  OH MY GOD! THIS GUY IS SUCH A DICK!!  He went on to explain, like I am some kind of idiot, that genetics is just one piece of the puzzle.  Environmental and other risk factors are needed to set them off.  Sometimes I seriously think I must be smarter than the doctors.  I don’t know what kind of Cracker Jack Box this guy got his degree in, but I am so done with him!

Worse, as he was saying all of this, a nurse burst into the room.  “I’m sorry doctor but that patient who broke out in hives over the Remicade is now coding.”  He says, “let’s take this out in the hall.”  WHAT?!?  He comes back in the room as if that didn’t just happen.  He continues talking to me, refilling my prescriptions.  At that point I wasn’t even paying attention to him.  There is a woman down the hall CODING from the medication HE gave her and he is in here with me???  If I were coding I would want that damn doctor at my side, holding my hand, resuscitating me or whatever!  Then as an after thought he said, “I guess I better give you an exam.”

He had me get on the table.  He looked in my mouth.  Then he ran his finger down my spine and finally he bent down and squeezed my ankles.  He said, “ok, see you in January.”  That was your exam?  I am so done with this guy!!!  I left the clinic walking past the ambulance and fire trucks that were obviously there for his poor victim.  I wondered if it were any of the sweet little old ladies I had chatted with in the waiting area of the blood center.  I left my original clinic because I thought the doctors were incompetent.  They cannot be worse than this guy.  At least they wouldn’t be an hour drive each way and a half day off work.  I may switch back to them after this.  Just give me my Meloxicam and Gabapentin and I will be on my way!!  Last time I had begged my primary doctor not to make me go back there.  She can prescribe those things!  She can monitor my blood work.  But she said no, I have to keep going.

I drove back to work, completely IRATE after this visit.  I decided I needed to contact my primary doctor.  Maybe she will take a look at my genes!  My primary doctor is in a small clinic in a neighboring town.  They have a patient portal, but I have never registered for it.  I called the clinic and the only way you can register is if you come in.  I decided if I have to go there anyway, I would just write my doctor a letter and hand deliver it – the US Postal Service has gone so far downhill that I wouldn’t trust them to deliver something so important.

The letter began with giving her an update on how I am feeling and the things I have now been able to do without the pain or stomach problems.  I explained the medications I am now on.  I rehashed a little of the visit with my rheumatologist.  I told her my GFR score, which he wasn’t concerned with and how the doctor said I have improved my “Fibromyalgia” solely based on the exercise with no mention of the Vitamin D.  I don’t even know if he retested it!  Then I told her of my genetic report and that I have 115 out of 129 known genes linked to MS.  I explained that it is often misdiagnosed as Lupus or Fibromyalgia based on the symptoms and that I have all the environmental and lifestyle risk factors.  I told her at this point the medications are working, but we are treating the symptoms, not any specific disease and that my good health is solely based on taking those medications.  I told her that I am uncomfortable with that situation, even though I feel better.  I told her that I have been to the eye doctor 4 times in 2 years and they keep coming up with nothing.  “Oh, you have ocular migraines.  Oh, I wouldn’t worry about that giant vein that popped out in your eye.  It may go away, it may not.  Oh, you can’t see anything because you have eye strain from needing bifocals…”  In the last several months, whether it is because of my new medications or the disease, I now get nystagmus when I am tired – scary when you are fighting to stay awake and driving!  I ended my letter with, “We have ruled everything else out, at this point I would feel better if we could rule this out as well.”

I hand delivered the letter and signed up for the patient portal while I was there.  Then I waited.  When I hadn’t heard anything in almost a week, I initiated contact again.  I decided not to let her decipher all 16 pages of my bad genes.  Obviously it was too confusing for the rheumatologist.  So I made a report of just the MS related genes.  I sent an email on the patient portal and luckily this one allows attachments.  Most do not.  By lunch I already had a message to call her.  We are swamped at work and working overtime so it took me a couple days to get back to her.  We usually play phone tag, as I think most offices do.  It almost feels like the doctors want to be the ones to initiate the call (control freaks, or maybe egotistic), but shockingly she got right on the phone.

She asked me a whole bunch of questions about my symptoms.  She asked if I ever have tingling in my limbs.  I asked, you mean like falling asleep?  Yeah, my feet fall asleep all the time when I am sitting weird.  She asked what about when you sit normal?  I said I don’t sit normal.  I have short legs, furniture doesn’t fit me.  She laughed.  She asked if I would rather have an MRI or be referred to a neurologist?  I said I would rather do an MRI.  If I don’t have any spots on my brain or spinal cord, we will just stick with Fibromyalgia.  Just the idea of having spots on your brain is scary, but on the other hand, it sure would explain a lot!  She had me make an appointment.  I told her it will be a couple of weeks because we are working overtime right now and can’t take time off.  Really, it’s been two years so I don’t feel super rushed at this point, plus I do feel better.  I guess we will see.

Genetics Continued

Friday morning on the way to work, I was thinking how perfect it would be to get my DNA results back that day so I would have the whole weekend to read up on it.  It must have been a premonition because as I pulled into the parking lot I got the ding I have been waiting for.  “Your results are in!”

Back up a bit first.  After working on the family trees of my husband (which did not lead me to any answers) I became curious about my own background.  I went to www.myheritage.com and signed up for a free trial.  I began putting my own family information in that I knew of and I had “smart matches.”  From there I began researching obituaries, other people’s family trees and www.findagrave.com.  My mother’s mother’s line was actually the easiest to trace.  It turns out we are actually direct ancestors of Capt. Myles Standish who came over on the Mayflower.  Turns out he is a big deal out east!  I am still learning about him.  I began to wonder, when did my other ancestors get to the United States.  I started talking to my family.

It turns out my dad really wanted to know about his own family.  His brother had tried to search in the past and he could only find information about 3 generations back.  I had a new mission.  In the meantime, my mother and I began speaking of all the research I had already done and I told her I was having troubles with her father’s family.  She told me a story.  Apparently a few generations back my grandfather’s family had a dispute over the support of Hitler and the family actually dropped a letter from their last name to detach from the supporters.  Now I had another clue!  I was looking under the wrong name!

It didn’t take me long to find the rest of them once I had the correct information.  My grandfather’s grandfather was a concert pianist in Germany.  His son moved to America and settled here.  Eventually his father joined his family here, but they continued to support loved ones back home.  It was my grandfather’s father who changed his name.  He didn’t just change the last name, but also changed his first name to the American version.  My grandfather is still alive and lives with my parents.  Even he did not know that his father had changed his name.  My grandfather had served in the American Army during World War II.  I think the best part of all of this is that I have gotten to know more about my close family and we have bonded over this whole experience.

I received an email through My Heritage.  “Hi, cousin!”  We emailed back and forth for a week talking about genealogy, all the exciting things I had already learned.  She used to camp in the Myles Standish State Park when she was a little girl in Girl Scouts!  I didn’t even know there was a State Park!  I finally sent a message, “I have a personal/medical question.  Does anyone in your family have endometriosis?”  She replied with, “I did!  I had to have a hysterectomy!”  She said she had a lot of first cousins and she didn’t think any of them had it, at least they never talked about it.  I told her that I didn’t know about it until I received my own diagnosis.  Then I found out it went three generations back and on both sides of my family.  I explained to her that I am actually having my genes done because I have had all these health problems and I was hoping it might be a clue for my doctor.  She went on to say that if we are related through a particular line of her family, they all have Crohn’s.  That was very interesting!  I shared with her my website and the fact that I had written a book on my experiences through diagnosis and “treatment.”

Throughout the week I was also able to find where my dad’s family “got off the boat!”  I traced his father’s line clear back to the 1600’s.  Turns out they were Catholics who came here fleeing religious persecution from England.  The information is cloudy as to whether they were from Kent or their ship was named Kent, but at least I found them.  I found it interesting because I always thought my whole family line was German.  We all had German sounding names.  I am still researching the last leg of my family, my father’s mother’s side.

On to my genetics.  I didn’t have much time in the parking lot but the very first thing I checked was my husband’s DNA compared to mine.  Thank God!  We are not even a smidge related!!  I sent him a message, “I got my DNA and we are not related at all!”  He responded, “Nice!”  We had a VERY busy day at work and I hardly had time to look at anything at all.  I went to my parents’ house at lunch thinking I might use their computer to find more information.  Well apparently they all three were out golfing!  So I sat in my car and used my phone.  I am 99.9% European.  That is no surprise with my blond hair and blue eyes.  What was surprising though is that I am only 9% German!  My grandfather’s family is the only family from Germany!  The majority of my genes are from Northwestern Europe.  Particularly British and Irish with some Scandinavian mixed in.

Then I saw it! <.1% “Unassigned.”  I click on it.  “Sometimes your DNA cannot be assigned to one of the reference datasets used by our algorithm. You may be interested to know that this means that your DNA is unlike most of what we’ve observed before! As we collect more data and update our algorithm, less of your ancestry should fall into this category.”  Alien!  I knew it!  The song from X Files starts playing in my head.  I had to text my friend in Florida.  She will love this!  We email back and forth.  “I am coming back to visit next month, let’s get together!”  I reply, “Definitely!  Unless the government is watching 23 and Me, looking for the Alien DNA, in which case I will probably be kidnapped and probed before you get here!”  “LOL”  On the way home from work, I tell my mom about what I had found.  She could not believe I was only 9% German.  She too thought our families came from there.  Then I tell her about the X factor.  She says, “Ooh!  It could be alien or maybe it’s Sasquatch!”  Haha!  My parents watch all those finding Big Foot shows!  My dad is just sure they are going to find one any day now!  I was a little disappointed that I didn’t have any cool Neanderthal skeletons like Cheddar Man.  But I guess I got my claim to fame from Myles Standish.

I uploaded my information to Promethease over lunch, but you have to wait a little bit for your report.  By then it was time to go back to work.  I had the opportunity to look a little just a little bit in the afternoon.  First thing that catches my eye:  Narcolepsy!  What??  Well that explains A LOT!  I can’t watch TV or I will fall asleep.  I can barely get through an afternoon of work without doing the head bob a couple of times.  I told my mom about that on the way home also.  She said my father’s father really struggled with that.  Every time he would sit down, he fell asleep.  In fact, since my father retired, he is the same way!  Doesn’t matter how many people are over visiting.  As soon as he sits down in his chair, he is snoring away!  Neither of them had a desk job.  They were always busy, always moving around.  Makes sense why I struggle so badly sitting in my desk chair.

Saturday morning I spent hours going over my genes and I have a much higher frequency of genes related to MS than to Lupus, though there are several related to the latter.  MS wasn’t something I had considered.  I also had tons of genes for Crohn’s which is what the gastro thought, but once she found the gallstones she was like, well there you go!  I must be closer to my new found cousin out East than I thought since she had mentioned everyone in her family had that.

Technically it’s a total crapshoot.  It’s like, what’s it gonna be?  Stroke, heart attack or cancer?  They are all quite high for me.  I already knew from my family history that these may be what is in store for me. Or, I could just get hit by a car while out walking.  Who knows?  It’s nothing to fret over really, but it may be beneficial for my doctor.

I go back to the rheumatologist next month. I printed a sheet with my info to take to my next appointment.  I also did one for my husband.  He has a lot of pain in his hands and his doctor just keeps saying, well that’s just part of the disease.  He offers him nothing for relief.

To be honest, I haven’t had a bad flare in 5 months.  That is the longest I have gone in two years.  The chiropractor has fixed my headaches, the Meloxicam really helps with the arthritis pain and apparently I just really needed that Vitamin D!!  My bowels have calmed down a lot.  I have begun walking most mornings at 5 a.m. for about three miles and I started a belly dance class on Wednesday nights plus I am still walking the two miles during our breaks at work.  I would not have been able to do all that a year ago!

I did read one interesting study done on the particular MS gene that had a 72% frequency in my genes and it basically said that it could be helped by strategically treating it with Vitamin D during certain times to help stave off the disease.  The more I read, the more I wonder if my rheumatologist is as bad as I first thought.  I still do not like the way he treats me, but again, I am way more mobile than I was before I started seeing him!  I also was surprised to see I had 4 genes linked to Fibromyalgia.  I didn’t even know genetic studies had been done on this!  There is so much information in these reports, I couldn’t possibly read everything in one morning.  I will continue to study and see what I can find.  I will check back next month after I hear what my rheumy thinks.

Adventures in Genetics


Descendant of Cheddar Man

My husband was adopted at age 5.  He does not have enough tangible memories to find his biological family.  When computers first came out, he and his first wife tried to search, but only reached dead ends.  The only family medical history that was given to the adoption agency was that the family had diabetes.  He has Ulcerative Colitis.  Then came the barrage of commercials and advertisements for 23 and Me.  His curiosity was piqued.  The more we saw, the more discussion we had about possibilities.

For his 45th birthday, I gifted him a DNA kit from 23 and Me.  I could justify the cost because it was his birthday after all.  We did not expect the results back for months as I had read complaints on their Facebook page from people waiting for theirs.  One morning we were getting ready for work and both of our phones dinged.  We looked thinking someone had tagged both of us in something and instead it said “Your results are in.”  I asked him, “Do you want to look?”  He said, “No, we don’t have time.  Besides I know you are going to read all about it at work today.  Just text me if you find anything.”

I was giddy with anticipation as I drove to work that morning.  I was so nervous for him, I was shaking all the way there.  I don’t know if he felt the same.  I am sure he had as much fear as excitement.  I always get my work done before I screw around on the computer so I couldn’t even look anything up until after 10.  I pulled up the page: 1609 possible family matches!  That is A LOT of people!  Unfortunately, no one closer than a second cousin on his mom’s side.  I texted him, “You have 1609 people in your family!”  He asked, “My mother?”  My heart broke for him.  You imagine this 5 year old little boy who was told, “Get your things, we are going to the sitter.”  I don’t think a baby feels the abandonment that a child of 5 would feel.

As I scrolled through the pages of unknown family I learned a lot about the service.  Apparently, in the past, they allowed people to sign in anonymously.  Many of his close matches did so.  You can also choose to share your information with any matches or keep it private until you request to share information and they accept.  You can use your name, post a picture, share information about yourself and your family history.  Some people post the last names that are associated with their family.  I clicked down the line of people to request sharing.  Before I had a chance to explore more of the site, I get a message.  “I’m sorry, how do you think we are related?”  It was a man who is related by .77% who shares the exact haplogroup as his father.  I explained in my response that I was his wife and that I gave this to him for his 45th birthday as he was adopted.  At first the man was very helpful.  He is a genealogist.  His entire family tree is posted on a website at My Heritage.

We emailed back and forth all day.  I felt a little guilty because I hadn’t given my husband the chance to say whether or not to pursue these family members and worse, we share an email on our phones so as my phone dinged all day, so did his.  Once this very helpful man realized we were looking for living family, he clammed up.  He said several times in his messaging that he “cautioned” us and “warned” us to “tread lightly” and that there is a possibility they may not want to know him.  I told him that I realized this, as who would give up a child at the age of 5?!  Then I explained that my husband had Ulcerative Colitis and a family medical history would be VERY helpful for his doctor.

That night over dinner we discussed what I had found that day.  I told him of the family members.  I told him of the conversation with Craig.  I found an interesting fact: he is related to Cheddar Man – which I found hilarious and fascinating!  Cheddar Man is the oldest skeleton ever found in Britain.  He is 9000 years old.  I also found a picture of a facial reconstruction done of him.

Then he questioned the medical history.  Well, of the 39 rare genetic diseases they test for, he did not have any of them.  Unfortunately after the FDA put a smackdown on them, they cannot give any helpful medical information.  You can download your raw genetic data, but it would take a geneticist to decipher that.  I have studied a lot of diseases on my own health journey, but reading genetic data, forget it!

With his permission, I pursued his family history.  I contacted the one closest match that is probably his mother’s cousin and almost instantly got a response.  It was her daughter responding for her as I was his wife responding for him.  She is interested in genealogy because she does not know anything about her biological father.  We chatted back and forth, but she offered no information on her mother’s relatives.  Another dead end.  Turns out, people aren’t very forthcoming when they realize what you are looking for. It is frustrating that people are so guarded.

So taking the information from Craig on his father’s side and Joyce on his mother’s side, I began my research.  It is amazing how much information you can put together from reading obituaries.  It is also depressing as hell.  I put together 2 large family trees and still can’t figure out the connection.  I found people from the families that ended up in our state and thanks to the help of Whitepages, I went on a letter writing campaign.

In the meantime, I went in search of his medical history.  As many people have complained, our computer forced a download of Windows 10.  So we have Cortana in the bottom left of our screen.  I remember seeing commercials of how awesome this thing is supposed to be.  When it first changed, my husband blew a gasket.  He does not like change or technology.  In fact, his phone updated and changed the icon of his clock and now he can never find it.  It is still a clock.  It just doesn’t look the same. So this is what I am working with.  He wanted to send his mom flowers for her birthday and he could no longer find Internet Explorer that had all his favorites and passwords saved.  I put Cortana to the test.  I asked, “where is Internet Explorer?”  Not only did she pull it up, but she pinned it to the taskbar so he could always find it!  Whew!  Disaster averted!

So I challenged her again, “Can you decipher DNA?”  She pulls up a Bing search.  To be honest, I don’t like Bing.  I am a Googler.  I thought, ugh, she is nothing more than a search engine.  But oddly enough the first article that came up was a blogger talking about what to do with your raw DNA!  Apparently there is a website called Promethease that for just $5 you upload your raw data and it sends you a report.  That day I told him what I had found.  “Yes!  Let’s do it!”  I was hesitant.  “Are you sure you want to know?”  I mean, this could be a death sentence.  On the other hand, I already know my family history.  I know we have cancer and heart disease and endometriosis.  I know that the majority of my family has died before the age of 62.  Some in their 50’s or in my sister’s case, in their 40’s.  We have alcoholism and allergies and asthma as well as some other autoimmune diseases.  Is it fair that because my family kept me that I should have this information and he shouldn’t?

We uploaded the information.  Within 10 minutes we had the report.  We sat down together.  I could not believe the size of the report or the detail of information!  There was information about his heritage.  There was information about his personality traits – and they described him to a T!  And he finally got that family medical history he was searching for: cancer and heart disease.  He also had genes linked to bi-polar disorder and schizophrenia.  That could explain why his mother gave him up at age 5.  A manic state can feel so bad that she probably imagined he would be better off with someone else.  Little did she know that they would kick him out at 16 and he would live out of one garbage bag of belongings for years, moving from couch to couch.  I don’t know if that was the life she was imagining for him.

He had tons of genes related to autoimmune disease, particularly every type of arthritis.  No wonder he hurts so bad.  Crohn’s, colitis, diabetes, scoliosis (which is already confirmed) disc disease… The list goes on and on.  Then I saw it; Endometriosis.  What???  Ok, now I HAVE to know about me!  What do my genes say about me?  My personality?  My ancestors?  Marrying someone who is adopted, especially because we have the same undiluted hair and eye color, there is a part of you that fears – what if we are related?!?  I called my mom, “What was uncle Rod doing in 1971?!?”  She says, “what’s the big deal?  It’s not like you are having any children!”  EWW!  Just NO!  My uncle, cousin twice removed, husband!  So I broke down and ordered my own test.  I am impatiently awaiting my own results.  The saga continues…