23andMe MPN Research Initiative

•December 2, 2011 • 7 Comments

Have you heard of 23andMe, yet?  Self-described as a ‘Personal Genome Service’, 23andMe offers DNA genotyping based on a saliva sample that you provide.

Genotyping is not the same as sequencing.  Sequencing maps the entire DNA, a long and expensive process.  Genotyping, however, determines an individual’s genetic variants.  It is much faster (6-8 weeks), and much more affordable.

So, what exactly will you learn from 23andMe’s services?  Well, I was a little surprised (pleasantly) by the amount of information you will receive.  You will be informed of your risk for developing almost 200 diseases like Cancer, Aneurysms, and Parkinson’s.  And that list is still growing.  You will also be informed of your risk for passing on 24 inherited conditions to your children like Cystic Fibrosis, Sickle Cell Anemia, and Tay-Sach Disease.  23andMe will also inform you of your personal responses to 20 common drugs like Coumadin, Plavix and Oral Contraceptives, highlighting a possible need for a higher or lower dose than normal for effectiveness.  And, 23andMe also discusses 52 Traits such as Male Pattern Baldness, Menopause and Reading Ability, and how your genetics will influence them.

23andMe also covers Ancestry.  You will be notified of any genetic relatives among the 23andMe subscribers.  You will also be able to map the migration of your early ancestors and find their origins.

When I first learned about 23andMe, I got very excited.  Their service appealed to me on both levels: as an ET patient interested in the Health information and also as a genealogy lover and family tree tracer interested in the Ancestry offerings.  I looked into the service, and learned that the kit cost $199, plus a monthly subscription of $9 (with at least a 1 year commitment).  Without the subscription, the kit is $399.  For everything you get, no, that’s not a bad price.  But it was out of my range.  Then, recently, I learned that the price of the kit has been reduced to $99 (with membership commitment).  That’s quite a bit of savings!  Again, a great price considering all you get, but still beyond my price range.

Then, great news!  As I was lamenting to a friend (who also has ET) that I couldn’t spend that much on the kit, but really wanted to be able to do this, she pointed out 23andMe’s MPN Research Initiative.  In addition to submitting your sample for sequencing, there are 33 surveys that you can fill out that will help in the research of MPNs, and 23andMe also offers an MPN Community Forum.

And best of all?  23andMe is offering 1000 FREE KITS and FREE LIFETIME MEMBERSHIPS for MPN patients!!!  

A very nice woman who is on the research team at 23andMe recently joined our Facebook ET Support Group to talk to us about 23andMe and answer our questions and concerns.  She also mentioned that only about 400 kits for the MPN Research Initiative have been claimed, so there’s still one there for you🙂.

A few concerns were expressed in the support group.  I’d like to share them with you, along with Meghan’s responses:

Q:  Are there any type of risks by being a part of this Study?

A:  As with almost any research study, there are risks to participating. Luckily they are minimal for joining our project. The risks involve things that are always a concern with research studies, like the chance that your data could be stolen, or things like having someone hack into your 23andMe account. You can see a more comprehensive answer in our consent document at https://www.23andme.com/about/consent/ The relevant section is titled “Are there any risks to participating?”  We are very committed to protecting the privacy of all of our customers, whether they participate in research projects or not.

Q:  Does anyone worry about what happens once you get the results? I mean if you find out that you have an increased chance of breast cancer, will you then have a higher insurance rate or not be able to get insurance at all?

A:  The Genetic Information Nondiscrimination Act (GINA) protects Americans from discrimination (in health insurance and employment decisions) on the basis of genetic information. You can read more about how GINA protects your privacy here:https://www.23andme.com/you/faqwin/gina/.   If you have reservations about the disease risk aspect of our service, you can opt out of viewing the health information and it would not be uploaded to your account.

To order your MPN Research Initiative kit, fill out the form HERE.  I sent away for my kit 4 days ago and received it in the mail yesterday.  It took me 5 minutes to register my kit online and provide my sample.  It is back in the mail, today.  How easy is that?  As I mentioned, there are 33 surveys that you can fill out as part of the MPN Research Initiative.  Each survey seems to take between 5 and 15 minutes.  Yes, that will add up to quite a bit of time, but it’s not much considering that you will be aiding MPN research.  Plus, I look at the surveys as being my cost for that free kit and membership😉.  Each question does offer the option “I don’t know”, or “I’d rather not say”, so if a question makes you uncomfortable, you can opt out of answering it.  And, I can fill out the surveys while I wait for my results, since I am SO excited!

If you decide to take advantage of this wonderful offer, or if you have done so already and have your results, please let us know and tell us what you think.  I’d love to hear about your experience with 23andMe.  Did I mention how EXCITED I am?😀

NSAIDs and Aspirin Therapy

•June 23, 2011 • 9 Comments

Whenever I have a headache, I take Ibuprofen.  I also take 800mg of Ibuprofen on the night of my Pegasys injections, to reduce the side effects that I will feel the next day.  All in all, I probably take Ibuprofen at least 3 times a week, in doses of 800mg.

Ibuprofen is an NSAID – Non Steroidal Anti Inflammatory Drug.  Advil is Ibuprofen, as are some forms of Midol (check the packages – some Midol uses Ibuprofen, while some forms use Acetaminophen or Naproxen).

I recently came across this video, made by the Mayo Clinic, discussing the use of NSAIDs with Aspirin Therapy.  While the video talks about taking Aspirin for Heart Disease, they mention that it is Aspirin’s ability to inhibit clotting that can be affected, and that is why ET patients take Aspirin.  I do plan to discuss this with my local Hematologist, as well as my Mayo Hematologist when I see him next week.  But in the meantime, I am trying to switch over to Acetaminophen (Tylenol).

I’m curious if any one else has had their Hematologist warn them about using Ibuprofen with Aspirin?  I don’t remember mine saying anything, but it is possible that with all the things we talk about that I just don’t remember.

Back on Pegasys, and my visit with the Rheumatologist

•June 23, 2011 • 3 Comments

When I saw my local Hematologist last week he told me to resume the Pegasys.  He put me back on the same dose (.5cc).  So, last night I did my first injection in 3 weeks.
I was a little nervous that the side effects would be worse than they were when I stopped the Pegasys, because of the lull in doses.  My Hematologist assured me that I wouldn’t have a problem, and sure enough, they were the same as they had been when I stopped: terrible headache the next morning, tired and achy the next day, and very bad cotton mouth starting about an hour after injection and lasting about a day and a half.  I would usually take a giant ibuprofen along with the injection to curb the headache and achiness, but I am trying to switch over to acetaminophen.  I have yet to decide if it’s as effective, but, from what I have read recently, it is safer with the aspirin therapy.  Oh, and have I mentioned that I always have the most vivid, interesting dreams the night of my injection?

I also, yesterday, had my visit with the Rheumatologist.  After speaking with her and having her go over my files from my other doctors (mainly blood work), she told me that I definitely have something going on, although she isn’t sure yet what *it* is.  So she had several x-rays done of my chest and hands, she is running a lot of blood work of her own, and I am also being tested for things like TB and HIV, which she said is standard operating procedure.  I was disappointed that the TB test is now (or maybe it’s just this way for adults) just an injection under the skin…no more multiple pin pricks with bunny ears and whiskers drawn on😦.
I will go back in 3 weeks to hear what she has decided.

In the meantime, I have been dealing with some hellacious headaches.  I had been having a solid, awful headache for weeks that was part of the reason for taking me off of the Pegasys.  That headache had downgraded to every few days when we stopped the medication, but the last week or so has gotten much worse in intensity.  2 nights ago, I had the absolute worst headache of my life.  I’ve had bad headaches all my life, from different causes, and I do get migraines fairly often.  So to say that this was – without a doubt – the worst ever is saying A LOT.  Had I not been the only one home, or felt in the least bit capable of driving, I would have gone to the emergency room.  And that would have been a first for me.  As it was, I don’t remember much of that evening, but I *do* remember laying in bed, only able to tolerate laying on my back, and actually hearing what sounded like the bones on the left side of my face crackling under pressure.  I didn’t have any bruising or swelling the next morning, so I don’t really think that’s what was happening, but that’s what it sounded like.
These headaches are always in the same place in my head and face.  I’m considering asking my General Doctor to do an MRI, only because in the summer of 2008, when they were doing the testing that led to my ET diagnosis, they found a growth in one of my sinus cavities.  Looking back, it kind of got put on the back burner when we found the ET and was never resolved.  So I’m thinking I might want to revisit that, considering that these headaches start in the left side of my nose/cheek/eye socket, and continue around the top of my head before settling into the base of my neck.  And that growth was on the left side.  But it will have to wait until I get back from Mayo, next week.  I just hope the headaches don’t cause me trouble for the 4 1/2 hour flight.

Chords for a Cure

•June 19, 2011 • Leave a Comment

I am so excited to announce a great charity event!

At the last Michigan MPN support group meeting, in February, I met a wonderful couple named Jen and Michael.  Jen also has an MPN.  About a month ago, they contacted me and asked me if I would like to volunteer for a fund raiser they are organizing for the MPN Research Foundation.  Of course I said YES!!!

This is such a great event – it’s called Chords for a Cure, and will be held on Sunday, July 17, 2011 from 2-5pm at AJ’s Music Cafe in Ferndale, Michigan.  3 bands are scheduled to perform: Rabbit!, The Trending Topics, and Donny Brown of The Verve Pipe.  The event will be hosted by Allyson Martinek of Blaine & Allyson In The Mornings on 96.3 WDVD.

There is a $10 minimum donation for adults, and children under 13 are free.  And again, this is to benefit the MPN Research Foundation.

Check out our Facebook event page, and our cool, new event website!  And if you are in the Michigan/Ohio/Windsor area, I hope to see you there!

We Now Return You to your Regularly Scheduled Medication…

•June 18, 2011 • 1 Comment

I had an appointment today with my local Hematologist.  I have now missed 2 doses of my Pegasys since we stopped it, two and a half weeks ago.  Thankfully, my platelet count has barely budged.  It’s still well within the 300s.  And, in fact, my WBC has risen very nicely, back up into the normal range.

The main thing my local hematologist was looking for was that my headaches and arm, hand and foot pain would improve or disappear.  Then, he said, he would likely put me back on the Pegasys to make sure that’s what was causing the pain.
I have been keeping in touch with him by phone, these last couple weeks, to let him know how (if) my symptoms were improving.  At first, there wasn’t much improvement, but then the medication was still in my system.  Finally, the pain started to subside a little.  My local hematologist then suggested that I increase my aspirin dose from 81mg to the full 325mg.  While the increase does nothing for the stickiness of my platelets (81mg has the same affect on reducing clotting as 325mg), he felt it may help reduce the amount of pain that was lingering.  That was three days ago, and since then the pain and swelling has been reduced significantly.  I have not had a headache in 3 days, the new foot pain is gone, I have not been woken up at night with the terrible arm pain (although my arms are still asleep when I wake up), and the pain in my arms and hands during the day has decreased.  I still have a stiffness in my hands, a dull ache in my forearms and hands, and I get shooting, ‘electrical shock’ pains in my fingers and hands when I try to do minute work like cutting meat or writing.  But much, much better.

So at my appointment today, my local hematologist told me to start back on the Pegasys.  I’ll resume my Wednesday doses, starting next week.  I am a little nervous, because if the Pegasys is the cause of the pain, it will come back.  But we need to know for sure.

Keeping an eye on the eyes

•June 14, 2011 • Leave a Comment

Last summer, around August, I had a blood clot land in the retina of my right eye.  The result was a damaged area of the retina, which meant a large ‘hole’ in the vision of that eye.  Within about a month the clot had dissipated, my retina had healed itself and my vision returned to normal.

It did mean taking a different look at my ET, and how my medication was working.  We determined that my ideal platelet count was a little lower than we had originally figured.  Although a count of up to 450 is considered normal, I appear to have more symptoms and episodes once my count gets over 400.  So, at that time, we had increased my HU dosage.  Later, we would decide to switch me off of HU and onto Pegasys, partially because Pegasys is supposed to address clotting better.

In addition, it has meant that I go for regular checks on my eyes, to see if I have any clot-related damage.  Yesterday was my 6 month check, and I am happy to say that my retinas are free of clots.  My Ophthalmologist has decided to have me checked annually from now on.  In the meantime, I will continue with my daily, low-dose aspirin.

Pegasys not the best option for me?

•June 10, 2011 • 1 Comment

I was really excited when my Mayo hematologist decided to start me on Pegasys, back at the beginning of the year.  I was optimistic that it would address some of the issues that I felt the Hydrea was not addressing well.

Sure enough, things started out very well.  The transition seemed to go smoothly.  My platelet counts leveled out nicely, and my white cell and red cell counts both rose to the normal level.  The best part was that I just *felt* better on the Pegasys.  I’m not sure that I can explain how…I just felt more positive.  I still got tired as easily, but until I did I just felt more motivated.  Of course, I needed to be careful that feeling more motivated didn’t make me overdo things quicker.  But until I ran out of energy, I actually felt…almost normal.
I think that, before, I was in a bit of a depression that I hadn’t realized I was in.  And it was gone with the Pegasys.  That’s how it felt, anyway.  Which, of course, makes me wonder – if I was depressed and didn’t realize it, just how depressed was I when I *knew* I was depressed?

So, to say I was happy with the Pegasys is putting it very mildly.

Back in March, I mentioned in a post that I was starting to have some pain in my arms.  We’d credited it to a slight rise in my platelet count, because I become symptomatic when my counts get in the 400s.  Now, we’re not so sure.  It may have been the beginning of issues with the Pegasys.  During the month of May, things got gradually worse, leading up to my local hematologist removing me from Pegasys completely, out of concern for my health.

During March, I started waking up at night, with my arms aching and tingling.  I would switch positions, wait for the aches and pain to go away, and go back to sleep.  This continued, on and off, through April.  Then, on May 6th, I had an appointment with my local hematologist.  As I was getting dressed, I raised my left arm to apply deodorant.  I was standing in front of my mirror, and when I raised my arm I could see a dark, raised red patch starting under my upper arm, extending around my armpit, and down under my shirt.  I stopped to think, figuring maybe I’d been leaning on something that caused the mark.  I couldn’t think of anything, and I raised my right arm.  Same thing.  I raised my shirt, and sure enough, the red patch extended down both sides of my torso, across my stomach and lower back and down onto my butt, pelvic area and inner thighs.  It was dark red, raised about 1/8″, and hot to the touch.  It hadn’t yet started to itch, and before I saw it I’d been oblivious to its presence.
My appointment was in about 15 minutes, so I tried to call to ask if I should still come in with a rash.  I was thinking about all the folks in the infusion center, with very low WBC counts, and was concerned that the rash meant I had something contagious.  No one answered at the office, so I went.  By the time I got there, the rash was darker, and had started to itch.  It also felt hot, where the rash was on my back, when I leaned back in a chair.

When my hematologist came in, he asked me several questions and checked me out.  Then he told me that he felt the rash was caused by the Pegasys.  He said that it was exactly the sort of rash the Pegasys could cause.  The solution was to put me on a steroid for a week to get rid of it, and see if it ever came back. I was told that often it’s a one-time, or just once-in-a-while thing.  If it kept coming back, I would have to stop taking the Pegasys.  I crossed my fingers, because I was really liking the Pegasys, and wanted to stay on it.  Sure enough, the rash went away and has not been back, yet.

For about a week, I was optimistic again, and feeling great.  That week went very quickly, because my oldest daughter was moving out, and I was helping her shop and pack.  Then the 20th came, along with a terrible, migraine-level headache.  I remember the date because that is the day my daughter moved out, and I did a lot of crying.  The headache started after she left and I credited it to all of the crying that I had done.  Except, it’s been 3 weeks now, and I’ve had maybe 3 days without the headache.  It’s been in the same area – it starts on the left side of my nose, goes through my left eye socket, up around the side and top of my head, down the back, and stops on the left side of the back of my neck.  It’s a high pressure, burning headache.  It feels like a migraine-level sinus headache, except it isn’t just in my sinuses.

At the same time, the arm pain kicked up a few notches.  Instead of the pressure and pain at night, I now experience it all day.  Also, my hands ache and tingle constantly, and I cannot make a fist or have the normal range of movement in my fingers.  If I try to use my hand normally, I get shooting pains.  But the worst is at night.  I wake up several times each night, crying out, feeling like my arms are on fire.  Not just a burning pain, it feels like someone poured kerosene on my arms and lit them on fire.  At first, I could just reposition myself and wait for the pain to subside.  But it’s gradually gotten worse so that now I have to get out of bed and move around for about 20-30 minutes to get the pain to go away.  It’s not like a pain caused by lack of circulation, it’s like a pain caused by too much blood.  Like my arm is going to explode.  On top of that, when I wake up in the morning it feels as though someone has tied strings tightly around the base of each toe.

I mentioned the pain when I went for my weekly blood draw.  They called my Mayo hematologist’s office, and I was told that my platelet counts are good, so they didn’t feel it was related to my ET.  I went home, slightly frustrated, and started talking online to other ET patients.  I learned that a few others had similar symptoms, and had been diagnosed with Erythromelalgia, which can be caused by MPNs.  When I went back for my weekly blood draw the following week, and was asked how the pain was and I told them it had gotten even worse, they insisted that I make an appointment with my local hematologist.  I went to see him on June 3rd.

After examining me and listening to my complaints, he told me that he felt this was all being caused by the Pegasys.  I asked him why he wasn’t suspecting this Erythromelalgia, and he said that he agreed that it could possibly be a cause, but he felt there were a lot more ‘red flags’ caused by the possible association with the Pegasys – and that it was a much more dangerous scenario.  He wanted to rule out the Pegasys, first.  Okay, I can understand that.

Now, at this point, let me back up a little and explain another concern that my local hematologist has had with me.

Several times over the last few years, my general doctor has ordered a Lupus test for me, because my ANA counts are elevated.  However, the Lupus tests always came back negative.  My local hematologist decided to order the test for my ANA counts again, because he wondered if the pain I still feel could be caused by Lupus.  Again, the counts were elevated.  Normal ANA counts are usually 0, but considered ‘normal’ up to 40.  Mine seems to stick around 320.  But again, the Lupus-specific test came back negative.  However, my local hematologist still feels this is something we need to focus on.  He has asked me to be seen by a rheumatologist, because he wants to rule out Mixed Connective Tissue Disease, which is another auto-immune disease.  I go to see a rheumatologist on the 22nd of June.

So this is the ‘more dangerous’ scenario with the Pegasys.  In fact, there is a warning that comes with the Pegasys information that states, “Development or exacerbation of autoimmune disorders…has been reported in patients receiving alpha interferon.”  We already know that the Pegasys didn’t cause an autoimmune disease for me, because my counts were elevated before my diagnosis of ET.  But, if it turns out that I do have Mixed Connective Tissue Disease, or some other autoimmune disorder, it would be dangerous to continue on the Pegasys.

And so that, apparently, is our focus at the moment.  My local hematologist has told me to stop taking the Pegasys for a couple weeks.  I’ll let him know, next week, if I am feeling better.  I missed my first dose two days ago, and I can tell you that last night I experienced my first night of not waking up with my arms on fire in a long time.  The headache is still present, but the arm pain is slightly better.  He said that if I do end up feeling better, he may challenge me by having me take a couple doses to see if the symptoms flare up again, just to make sure that was the cause, and that it wasn’t a coincidence.

In the meantime, I have a re-check with the opthamologist on the 13th (to check for more retinal clots) and I see the rheumatologist on the 22nd.  Then, on the 29th, I’ll be back at the Mayo Clinic for my 6 month check.  I suppose, in the interest of ‘looking for something positive’, this is good timing.  I’ll be sure to mention the headaches to the opthamologist, since they center around my left eye so much, and of course it’s fortunate that I will be seeing my Mayo hematologist in a few weeks, as well.

Am I bummed?  Hell, yes.  Until these side effects kicked in, there was such a noticeable difference in the way I was feeling.  I was getting more done, and feeling more upbeat.  Now I hurt more than ever, and am fighting to stay positive.  I also have those mixed feelings that I had before my ET diagnosis of ‘I’d rather there was nothing wrong, but if there is I need to find out what, so that I can address it.’  The feeling of ‘I don’t want to know – but I do’.  And, of course, the fear of the unknown.  By now, I feel like I know my friend, ET, pretty well.  He doesn’t surprise or scare me, anymore.  But, these autoimmune diseases are all strangers to me, and I don’t know what to expect of them – let alone if I need to get to know them.

So, all in all, I hope these next few weeks go by pretty quickly.  Oh, and did I mention, my 23rd wedding anniversary falls smack in the middle of all of it?😀