Stupid Sinus Infections!!

I had a stupid sinus infection last week that I was absolutely miserable from (but thankfully have recovered)!!  Does anyone without a genetic condition experience stress and anxiety from a stupid sinus infection??  In the days that I allow myself to have a pity party, I think not.  Nobody understands.


To explain, because I know that I have CADASIL, I have been told to never take anything (either prescription or over-the-counter) that could be vasoconstricting; or increasing blood pressure.  Because the genetic condition creates a fragility amongst the micro blood vessels in the brain, it predisposes effected offspring to stroke.  Therefore, I can't ever take Sudafed; or any medication for nasal congestion.  I just have to suffer through it.

I used to feel sorry for myself when I was so congested but wouldn't take anything.  My dad suffered from a major stroke when he was only 44 years old from taking Sudafed.  To this day, I have a 'fear' about over the counter or herbal medications or remedies because of this.  I work in the pharmaceutical industry, helping shape my bias that only 'prescribed' medications are "safe".  While I certainly realize that my frame of mind is warped, it's substantiated.  When I saw my dad take Sudafed for a cold and then end up with a massive stroke...it scared the crap out of me!  We didn't know until over ten years later that it was the genetic condition that made him more vulnerable to the vasoconstricting effects of Sudafed.  (But there are MANY other cases of individuals having strokes after taking it without CADASIL).

Anyway, my point is that I now look at it with gratefulness.  Because I went through genetic testing, I now know that I can't ever take Sudafed (or anything containing the active ingredient phenylephrine).  If I didn't get the genetic testing done, every time I had congestion I would've felt even more worried, thinking to myself, "should I take Sudafed or not"?  If I take it there could be serious consequences being positive.  If I don't take it I'm miserable.  Because I know that I have it, I don't take it.  And that's okay with me.


I doubt many people contemplating genetic testing think that getting their results will effect the way they treat a sinus infection.  And that's why I'm here!  I was told that there were no treatments or cures for my condition, therefore consider not to get tested.  But last week, I was glad I did!  No Sudafed in this house!

Different Coping for Different Generations

Different generations of families with a genetic illness will certainly cope with it differently.  


The first generation is all about DISCOVERY.  Their challenges of the unknown are undoubtedly difficult.  Seeking answers from the countless different Specialists and the battery of bloodwork has to be exhausting.  It took my family over a decade to discover a diagnosis for my father.  But with advances in medicine changing so quickly now, it is less likely that the future first generations in families will face this same fate.  It will still be difficult and daunting and filled with lots of uncertainty until they receive a positive diagnosis, but as more and more genetic tests are becoming available, hopefully their road to discovery won't be quite as agonizing.


The first generation of family sufferers still have the burden of informing their family about their discovery.  Once they've received the information, they then need to understand how their genes impact the rest of the family.  How will it impact future generations?  How will you tell them?  Families are already complicated enough, but adding this kind of impact could certainly change things...for the worse, or perhaps, for the better.  I have seen families drawn closer together because of the leadership of the first generation in bringing their information to unite the family.  From their perspective, their are few people in their lives (other than family) who can understand their condition and how they need to cope with it.  Family understands everything perfectly.  That's not saying that all of the family is accepting it, but they certainly understand.  Some family members may chose to rarely talk about it while others may become advocates and chose to be very vocal.  The commonality behind their genes unites them, they understand.  They perhaps could chose to cope with the same challenges differently, and that's okay.


The second generation of the family will obviously be younger and in my family's situation, are more proactive.  For our particular genetic condition, the onset isn't until young adulthood.  Therefore us "kids" are all full-knowing of the genetic condition (few of us have gone through the predictive genetic testing) and believe that it could impact us very differently than the first generation.  Because of continuous medical advances and treatments, our outcome does not necessarily mean it will be identical to the first generation's.  We have more knowledge of what to do to lead a healthier life and also for what to avoid because of the possible dangers.  


The KNOWLEDGE of the second generation is the difference as compared to the first generation.  But it's what the second generation DOES WITH THAT KNOWLEDGE that will make all of the difference.  If they chose to ignore the information and pretend there is no risk, they are living in denial.  If they accept the knowledge without making drastic and radical life changes, they're content with their life.  And then others could argue that the knowledge of the genetic condition could change their lives dramatically, switching careers, ending marriages, living in isolation.  The fear of the unknown for this generation is their greatest challenge.


This generation also has the added burden of having to decide whether or not to have children because of this knowledge or if they already have children, how do you tell them?  When do you tell them?  Do you have your children tested?  


The one thing that I have learned through the years is to respect each family member's own way of coping with the news.  I truly try very hard not to be judgmental about their decisions.  (I may be more judgmental about other decisions they make...but when it comes to the genetic component, I try REALLY hard!)  I am not living their life.  We have this one thing in common, but the rest is THEIR life.  Each member of my family has handled things differently and I can say that nobody is doing it right or wrong.  As long as families are UNITED and show each other love and respect, the family's support could be the strongest component of having the same genetic mutation.

What Does Your Intuition Tell You?

• Do you trust your intuition?  
• Do you know when it's speaking to you?  
• Does it speak clearly?  
• Do you listen to it, or is it easier to ignore?

I was so young when I went through predictive genetic testing, but my immediate instinct or intuition was to get tested. Thankfully, I never questioned myself but I understand how many could. And it is this perpetual never-ending anxiety at this time in your life that can lead you astray from what your instinct has been telling you from the first moment.


My husband and I made some pretty big decisions in our family right after my test results were positive, but I always felt right about them.  It wasn't until I decided to take a voluntary demotion which required a relocation to a different part of Wisconsin that I learned what ignoring my intuition could cost me some day.  I had been making a significant commute for a few months into my new territory, while my family was still located back in my hometown and I was obviously growing tired of the hotels and driving.  We had been looking for homes for quite some time with a Realtor, to no avail.  I'm not a patient person and I couldn't wait to get out of the circumstances I was in.  I knew that moving to a different zip code wasn't going to eliminate my problems, I wasn't running away from anything.  In fact, just the opposite.  I wanted to work less and spend more time with my family after getting my test results and one of the only ways to accomplish this while keeping my career was to transfer to a new territory.  


After looking at over thirty houses with our Realtor, we "settled" and made an offer.  This wasn't our dream home. My oldest son was about to start Kindergarden and we didn't want to rent.  We were ready to create our new beginning.  We loved the location of this new house, but didn't necessarily love the home.  It was our intention to remodel and add-on, but it offered a great location by a private lake with lots of land for our boys and dogs to grow up on.  


Ten months after closing, our area received record rainfall and our basement foundation partially cracked and sank!  You could see the trees through the crack in our foundation.  Our insurance denied our claim and the Structural Engineers we hired stated  the cracks had been there before purchasing the house and the previous owners had gone to great lengths to cover up the repairs and never disclosed anything.  We hired attorneys but the previous owners filed for bankruptcy and we only received $356.  The cost to fix the problem for us was almost $30,000 which we had to pay out of our pocket.


It was during this time that I was driving and listening to something on the Oprah channel on satellite radio.  I don't remember what the show was about, but someone said about their intuition, "it doesn't speak loudly, but when it does speak to me, it is crystal clear."  That was it! In that instant I remembered the sneaky suspicion I had about buying THIS house.  I knew something didn't feel right beforehand, but I chose to ignore my intuition because of impatience and laziness and we paid the price!  It is because of this experience that I don't ignore my intuition.  In fact, I rely upon it!  It doesn't speak so softly anymore, it is LOUD and it is CLEAR now and I am very thankful for that!!


If you're deciding whether or not to get genetic testing done, my advice to you is to learn to hear your intuition.   If you don't have an intuitive feeling about whether or not you should go through the testing, wait. It's okay to wait to HEAR your intuition.  Once you hear what your gut is saying, then listen.  Wait for it to speak clearly.  Then move forward and don't look back and live with regrets.  Once you hear what your intuition is saying to you...LISTEN to it!  It is right!  All of the time!!

Genetic Testing = Biopsy Results

I had a friend recently go through a cancer "scare", and thankfully everything turned-out negative, he just heard the news today.  It got me thinking of how similar, but yet different, genetic testing is to getting a biopsy done.

With both, you have only two results:  positive and negative.  Both are definitive and conclusive.  They also are similar because in cancer cases, you may be told to keep an eye on things and get the test repeated in a couple of years, which is somewhat similar to genetic testing in the sense that it will always be there.  You may hear the results of the biopsy as negative, and think the scare is over.  Done.  But that usually isn't the case.  If something looks like a duck and quacks like a duck, it's usually a duck.  We all know too many stories of friends and family who have had cancer touch them.  But we don't know too many that are going through genetic testing.

Genetic testing completely differs from getting a biopsy done in the period after the test results have been received.  And I first must say that I can only offer insights and experiences for the genetic condition that I have.  As we know, every disease has different pathways and protocols.  In the case of CADASIL, there are no treatments or cures.  Your genetic condition could be entirely different.

I remember feeling when I was going through the testing process back in 2007 that it would be easier to get diagnosed with cancer because there would be treatments and support groups and all kinds of vitamins, etc.  In other words, I felt like there were lots of options.  But I know my friend who was diagnosed with a Stage 4 Glioblastoma brain tumor didn't feel that way.  There were tons of research trials for that condition and when she went to a doctor, they knew of it.  But my genetic condition didn't have a single on-going research trial to speak of and I've seen countless doctors that have never even heard of the condition I have.  Which would I rather have?  She passed away 11 months after diagnosis.  I went to the YMCA tonight and ran 2 miles.

I was warned before I went through genetic testing about the fact that there was nothing I could do if I was positive.  And while I understand they were only trying to help and it is a factual statement, because of the lack of clinical trials on CADASIL or any meaningful treatment; I beg to differ.

When my friend received his results today, I asked his wife, "if the results were positive, would you two do anything differently tomorrow?"  Because I know this couple is full-of-life and live with exuberance and deep love for one another, I thought she'd say "no".  And she did.  But I know my life took a different path when I received my genetic results that were positive, but for the better.  I still have the same job (obviously jobs and titles change through the years, but I'm still doing the basic occupation), still married to the same wonderful man, and my boys are still the greatest part of my life.  So while I think things are dramatically different, they're still the same.  And I wouldn't have it any other way!!

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Genetic Testing Through Genetic Counselors: My Experience

Genetic Testing Through Genetic Counselors: My Experience

An excerpt from my book about my discovery of a genetic illness (in progress):

"And so the journey that will eventually take us eleven years to receive the correct diagnosis of CADASIL had begun.  During those eleven years Dad had never really had a "diagnosis" and therefore he had no "prognosis".  That was difficult.  We just watched him get progressively sicker and sicker.  And when us kids heard the positive test results in 2006 and the word "CADASIL", my immediate instinct was to run to the internet to find out just what the hell it was.  The word "shock" is an understatement when I was reading the definition of CADASIL on WebMD:  "Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy".  WHAT?!  I frantically continue reading the screen and see the word "genetic" pop-out at me.  I continue to read some more and see the word "Autosomal Dominant" pop-out.  Ok, I took genetics in college.  But, shit, all's I remember from it was the various mutations of the drosophila.  What does Autosomal Dominant mean?  Then I see it; "offspring of an effected individual carry a 50/50 risk of having the defected mutation."  That's it.  My world had forever changed.  And so, my story begins."

 

From this point seeing what I saw on WebMD is where I hope to offer some experience and insights.  The very next step I made was to google Genetic Counselors, to determine how to get tested.  I remember picking up the phone to call a large Regional Clinic, located about an hour away from me in the Central Wisconsin area.  As I reached for the phone, my hands were visibly shaking and my voice was trembling.  I was speaking with a Certified Genetic Counselor for the very first time.  She quickly realized the person she was speaking with was in a state of shock and was very patient with me.

I expressed my concern of anonymity to her and needing to be discreet.  Back then, I was allowed to make a "Jane Doe" appointment, and I paid cash.  Today, my Neurologist at my current medical institution recently informed me that they can no longer offer anonymous genetic testing to their patients because of their Medical Ethics regulations.  When I was tested, there were no laws in place for genetic nondiscrimination.  Today, the "GINA Act" (the Genetic Information Nondiscrimination Act of 2008) is in place, so "theoretically" there should be no discrimination faced from either receiving health insurance or employment. http://www.genome.gov/24519851  Ethically, medical institutions are obligated to record in the patient's medical history the dictation of the counseling received from the genetic counselor.
I ultimately was able to get tested anonymously through a connection at a Research Facility that I had made, but I don't think I would be able to do something like that today.


Which leads me (finally!!) to my topic for this post:  getting genetic counseling.  As genetic testing is evolving and becoming more affordable and readily available, more and more patients will be faced with the choice of getting tested.  And I'd recommend that first step to be to find-out where a Certified Genetic Counselor is that you and your loved one can go together to meet with.  The American Board of Genetic Counselors http://www.abgc.net/ABGC/AmericanBoardofGeneticCounselors.asp is a good place to start.

When I went in for my initial appointment, my husband went with me.  And I must admit, I was very anxious to speak with them.  However, I was anxious about everything at this point in time.  At least I was getting answers from them.  CADASIL is so rare, that there was very little published information on the internet or medical journals.  The counselor (a PhD) and the geneticist (a MD) were both very informative.  They began explaining that there was an "approval" process that they needed to determine to see if I deemed "fit" to be tested.  They explained that not all patients are advised to get testing for a condition like mine, since there were no treatments or interventions that could prevent anything.  It was their job to ensure that patients wouldn't become suicidal or debilitated upon discovering their results were positive.  I had to answer many questions about how I would live my life if I were to be positive.  My husband had to answer their questions about the type of support that he would be able to provide, should I be positive.  The hardest part was when they discussed testing my children.  Ethically, the geneticist explained, my children weren't allowed to be tested until they were eighteen because they equally have the right NOT to know.  Who was I to decide for them now?  Maybe they will grow up and never want to know.  I cannot make that decision now for them.  If the genetic condition would be, for example, a heart condition that could be cured through a transplant, then yes, they would test them.  But for my condition, there is really nothing preventative to do.  That may change someday, in which testing them may be reconsidered.

After my "emotional fitness" was determined, the test was ordered.  It is typically much cheaper and faster for an offspring of an effected individual to get testing, because they only need to test for the specific mutation that the parent possesses.  When the initial patient is tested, the whole genome needs to be scanned for the defected mutation.

This is where my experience with the genetic counselors ended.  As I mentioned, I was tested anonymously and the clinic could not provide that.  However, if you were to be tested through genetic counselors, they would schedule a follow-up appointment to discuss your results and provide the necessary counseling on both a short-term and long-term basis.

If you're going through genetic testing, there is so much to think and worry about.  Let the professionals handle some of the worry for you and your experience will be that much better.

 

Do You Ever Hear Your Life Whispering to You?

Do You Ever Hear Your Life Whispering to You?


This week, while reading an internal memo posted from my employer, I felt a whisper.  It was odd, because usually you hear a whisper.  But this was a feeling, as if I should be doing something about this.  I contemplated over what was the best thing to do about it, but I had some significant fears and anxieties in doing so.  Ultimately, I overcame them and great things are coming as a result!


The "I Don't Buy Green Bananas Anymore" philosophy was in my mind when I was deliberating over what to do.  I felt a whisper and I just knew in my heart that I had to act upon it.  The "philosophy" of this blog is-why wait?  Why should I wait, worry, wait some more, worry some more?  I felt compelled to do something and I did it and I am so glad I did.


But it's not to say that I made careless and impulsive decisions.  Quite the opposite.  My decisions were strategic and calculated.  While I perceived it as a risk, it was a calculated risk which I made with confidence.


When I went through genetic testing, I can say the same thing about the same process.  While the genetic testing was the most anxious and fearful time in my life, it was those decisions and actions that are allowing me to continually overcome my fears and anxieties today.   I used the same process this week as I did when I was getting tested.  Getting through that time period in my life has allowed me to say that I realize the whispers that I feel in my life are taking me on a journey, not a destination. I am winning, but have not won.  There are victories, but no conclusion.


What I mean by that is that life is constantly throwing whispers to us. There was a time in my life where my fear and anxiety was so high, that now I wonder how many whispers I missed because I was too preoccupied to feel them?   I feel these whispers are my connection to God.  But whatever your  faith or belief, I believe these whispers are from God.  What is he trying to say to you?  Sometimes I just wish he would SPEAK UP!!

Which bananas will YOU chose?  How will you chose to live your LIFE?

"You can't change what you can't confront"

 Deciding whether or not to get tested for a genetic condition can seem like an overwhelming decision.  At times, it might seem as if you're incapable of actually making a decision.  I'm not an indecisive person, so for me it was not a difficult decision to make.  I knew that I wanted to know.  One way or the other.  I'm a planner.  If I knew, then I can make plans accordingly.  But I know that other people might think it would be crazy to get tested for a genetic condition in which there was no known cures or treatments.  Why bother they may think?

I had many reasons for wanting to know my results.

• The first, most immediate reason would be to calm my mind and bring my outrageously high levels of anxiety down...should I test negative.  Realizing that should I test positive, my worry and anxiety could get even worse.  But knowing myself, once I knew an answer, I would be okay because then I can make preparations.  
• If I was positive, it would be important to know that to be involved with clinical research trials.  It would feel empowering that I would actually be doing something, if not for me and my immediate health, but also for future generations that could be considerably affected.  Each of my children and nieces and nephews carry a 50/50 risk of also having the same mutation. 
• With my particular genetic condition, there are certain things to avoid.  Such as any medication that is vasoconstricting or birth control, because of their potential to cause stroke.  Therefore today when I get a cold with congestion, I'm very careful about any over-the-counter medications I chose.  The first stroke my father had was because he had taken Sudafed for his sinus congestion.  We did not know that he had this underlying disorder that weakened his blood vessels in the brain, and it caused a major bleed.
• There were also financial reasons to know.  And this is where my major anxiety was related to.  For me, we dropped my 401K contributions from 15% to 10% and took that extra money each year and put into a vacation fund for my family.  Honestly, it was comforting to me and again empowering that I can do everything I can to live for today.  While I'm still healthy now, our family vacations and those memories are so precious to me.  I also took out additional Life, Disability and Long-Term Care Insurance policies before getting tested.  Getting tested also impacted my career decisions.  Because of my level of anxiety and stress when I first found out, I took a voluntary demotion and our family moved so that I could be home more and not travelling so much.  It was one of the greatest decisions I've made for my quality of life.  While I can say that I really enjoyed the position I was in before, I wasn't able to take care of myself the way I needed to because I was working too much.  Now, I have better balance.  I've had other opportunities to apply for other promotions, but have chose not to because life to me now isn't about working more.  That's not to say that I don't want to to well and be the best that I can be where I'm at right now, it just means my ambitions aren't professional any longer.

There were also reasons for me to consider not being tested:

• The biggest one for me was the fact that now this medical condition would be a "pre-existing condition" and documented in my medical record.  In 2009, there were not laws then (now there is the "GINA: Genetic Non-Discrimination Act") to protect patients from genetic discrimination.  Even though GINA has been passed, I am still extremely leary that patients aren't discriminated against.  I currently work in the healthcare field and I see discrimination everyday.  This is why I bought the insurance policies before getting tested!  Today, medical institutions and hospitals cannot offer anonymous genetic testing because of the medical ethics codes.  If a patient gets tested via a medical institution, it must be documented in your electronic health record.  Be careful!
• For me, the fear of the unknown was greater than the fear of the known.  But that may not be the case for everybody.  Once I made a decision, I didn't look back and wish that I never would've.  But again, that's me.  This is something you need to think about before getting tested.  You need to be sure that you don't have any regrets.

For myself, I knew very quickly that I wanted to know my results.  I never wavered from that.  However, I was very careful and cautious in my preparations before doing so.  I made calculated and strategic steps before getting the blood drawn, which ultimately I believe led to me coping with things very well today.  To me, this comes to the fact that you can't change what you can't confront.


What in your life is difficult to confront?  We all have our difficulties.  But after facing this obstacle and getting through it, I feel like anything else that has been thrown at me is just merely a speed bump in the road.  If I got through this, I know I can get through anything.