Huntington's Disease: Our Journey

My family used to have fun all of the time. We would go camping together, swim together, play games together, or have picnics and BBQ’s together. We were far from perfect, but my family was definitely having a very great time along the way. We were also very religious together. Our faith kept us strong, and our love and hope moved us forward.

Then things changed. Dad was forgetting things all of the time. At his office or at home, there were post-it notes everywhere, even in his shirt pocket. We thought that he had just been too stressed and needed a little more support. But soon thereafter he started to forget how to shift the gears in his car, to stop at red lights, and how to back up the car straight. He was very confused and troubled about his new found situation.  

He also started yelling and having angry outbursts all of the time. Any little thing could spark a raging voice. It was easier to avoid his path then to possibly encounter his unpredictable wrath. He never seemed happy anymore. And we never knew when his Jeckel/Hyde complex would switch. It was that simple. He was nice and fun, or mean and hurtful.

Then it was time. There had been rumors in the family that both my grandpa and my grandpa’s brother had a disease. The family had been very quiet about it and we hadn’t heard much because my grandpa and grandma had divorced a short time before my dad was born. Consequently, we did not have a whole lot of contact with my grandpa’s family. After taking into consideration many suspicions, my dad soon decided to see a neurologist. Then, a few months and a few more doctors later came the diagnosis: he had Huntington’s disease, a degenerative brain disease. This was only the beginning.

Mom and dad sat my brothers, sisters and I down to tell us about the disease. They also explained that they decided to rewrite their wills and create a new trust. They planned for when my dad would leave work and go on disability, adjusting his life insurance and other tedious things. But I remember the conversation vividly when they mentioned how my mom had planned to care for my dad when he was no longer able to care for himself.   

They did not want this disease to change our family at all. Everything would be taken care of, the plans were made, and there would be little worry about. We were agreed up until they told us that we each (of the biological children) had a 50% chance of inheriting this disease.

I admit we were moderately afraid. My sister and I were both engaged with plans to be married, and start our own families. Okay, this news was a little more than disturbing. It was then that we understood how real this disease was. If we had this disease, we could possibly pass it on to our children as well. For days there were a lot of thoughts, prayers and concerns that were voiced, but nothing could have prepared us as well as witnessing my father struggle with the disease first hand.

We started noticing his physical symptoms. While sitting still he was unable to keep his head steady. It would bob back and forth to a silent rhythm. Sometimes out of nowhere his hand would fly up from rest at his side, to up in front of his face. It became very clear that he could not control the sharp or the subtle muscle twitches that very often were outwardly visible. He also seemed to lose his balance very easily and decided to start using a cane.

We quickly realized that the reduction of stress played a very large roll in how his physical symptoms manifested. He left his work and gave up driving. He in some ways felt that he was abandoning his manhood and freedom, and resulting emotions were twisted as well. Everything was very hard on him. Most of all he was obviously frustrated with the new person he had physically become. Depression became very evident, enough so that he opted to go on medication to ease his ‘lows’. And after witnessing all of these things, we soon realized that it wasn’t the physical or emotional symptoms that were the most menacing and hardest for us to face.

 

We watched as our once moral and compassionate father, showed sides that we had never seen. His inhibitions, moral conscience, and logical thinking were vanishing. He became very selfish and the only emotion he displayed was anger. He became promiscuous, devious, rude, chaotic and unpredictable. We very rarely saw rational behavior, especially when he was spending money. And he never displayed any kind of remorse for anything he did that was obviously hurtful to others, including thoughts of suicide. The dad that we all knew and loved had been replaced with a new person: one that we couldn’t respect or trust. It was very hard to have sympathy for someone who very openly, didn’t seem to care. The behavior changes came so quickly that we could barely contemplate mourning for the loss of a certain aspect in our father, when the realization of another loss would interfere, over and over again.

And then the ‘plan’ that had been so carefully constructed before everything had come to the point that it had come to, changed. My mom could not function with the realization of my dad’s new lifestyle. She could not work, raise children, and stay emotionally stable, by constantly being aware of his latest antics. He was unknowingly making it very hard on her by disrespecting her and her efforts to maintain a healthy, caring relationship with him. And this was all so much out of his character that she really didn’t even know how to react to him anymore. She painfully decided that they needed to divorce.

 

There haven’t been very many happy family outings since. Being in the same room with my father would leave you vulnerable for an unexpected verbal attack. Being in the same room with my mother would leave you vulnerable for an unexpected emotional breakdown. It was hard, and we knew our family would never be the same. I found that the faith that my father had taught us children when we were young was barely holding the broken pieces of our family together. And hope seemed distant: hope that things might be different, hope that things might be like they were before the disease, hope that things might get easier, and hope that we would stand triumphant and honorable at the end of this trial.

I find myself telling everyone, if you could have only known the dad that I grew up with, the dad that taught me to play the piano, that drove me to soccer games and cheered me on in the cold, that swiftly came to apologize in tears after an argument, that would buy special junk food for our slumber parties, that would honor and cherish my mother and their relationship, that taught others about faith and Jesus Christ, that would invite the local transient home for a warm dinner and a job opportunity, that would sacrifice wearing holes in his clothes so that everyone else in the family could afford new clothing, that would work hard day and night to provide for his family (sometimes holding 3 jobs at once), that would edit my English papers, that showed us how to be patriotic, that taught us the sanctity of marriage and being chaste, that taught us how to set up tents and cook foil dinners, that taught us how to drive a stick shift, that was a knight in shining armor for his little girl that adored and admired him.

 

I know there is a purpose and a season for everything. But that doesn’t make reality of the present any easier, especially when trying to explain to someone that my dad’s Huntington’s behaviors are not who my dad really is, or was. Or when trying to understand why I tested negative for the disease, while others will test positive. And there isn’t hardly enough information out there to prepare you for and to lessen the blow of this disease. Each case is different as well as each family. Though I still experience fear, and because any kind of change is hard, I strive every day to learn more and prepare myself better for the things yet to come. And through my experience, this is what I have learned thus far:

Hope lies in the past, with fond memories. Hope lies in the present with your knowledge and in your support system. Hope lies in the future, with a cure. Hope lies in our faith, and in the love that will pull us through.

Here are some things that I have learned from Huntington’s disease:

Laugh a Little

Even when you have to be serious, a sense of humor can salvage an almost broken day.  When tension and stress are maximized, the light tug of humor can soften and ease the pain.  When my dad’s arm would fly up uncontrollably, he would wave his hand and say that he just wanted to say “hi”.  We couldn’t help but chuckle and smile.  Don’t forget to laugh, and look at things with a light-heated perspective.

Pray a Lot

Your faith, however perceived, can make up the difference where you fall short.  I believe that faith is hope, and hope can save a lot of things.  After all you can do, pray and truly believe that things will get better.  Our spiritual side can correlate with our emotional health.  And a higher power helps by filling in the gaps, strengthening our drive, motive and resolve.  I believe that a loving Heavenly Father, hears and answers our prayers, and will comfort and lighten our burdens in his own way and time frame.

Network of Support

No one can handle everything alone.  If we were meant to, we probably wouldn’t have been born into families, or have naturally come together in societies and groups.  Humans are social, and we help lift each other up and support each other.  Family is obviously crucial.  Parents, children, siblings, aunts, uncles, grandparents all serve supportive rolls in some way.  Friends, neighbors and others we associate with also support in distinct ways.  The web of support that we spin around ourselves can be our lifeline.  It can carry us when we feel we don’t have the strength for another day.  It can encourage us, strengthen us, guide us and applaud our strengths.  Professional counselors can also help us put our struggles into perspective.  And support groups help us to understand that others share in our grief and pain, in their own ways.

Constructive Outlet

Keep busy.  When you are working creatively or constructively on whatever project you choose, it will help you to resist from focusing on the mere difficult side of your life, and will open up your heart to positive alternatives.  And sometimes you just have to walk away:  everyone can use a little break now and again.  It is ok to leave your struggles for an evening, a day, or even a week.  Having a favorite place, activity, etc. can recharge your emotional batteries.  So if you are feeling empty and vulnerable to anger or other negative emotions, arrange to have your own personal uplifting time.

Personal History

Write it now:  where you were born, your family and friends, where you have lived, fun experiences and special occasions.  Add photographs.  A family who has happy visual memories to fall back on will be better equipped to endure the worst.  And it is a great family history opportunity to be passed on through generations.  It’s also important to understand who you are before Huntington’s disease, so that you have a clearer picture of who you will become with Huntington’s disease (even as the caregiver or family member).  If you were prone to angry outbursts, they may increase.  If you were anxious and timid, you may now be aggressive and forceful.  Stress usually changes most of us for the worst, so figure out what kind of person you are, so you can prepare yourself for the kind of person you may become.  

For Better or for Worse

Why do you think a marriage commitment brings this up?  HD definitely falls under the “worse” category.  The hard will get harder.  The pain will increase and emotional tension and heartache will test your bond.  Have good communication now.  Write things down, and strive to make every day the best that your relationship has seen.  And don’t forget your goals and strengths.

Unconditional Love

It is hard to love someone that is hateful, hurtful, deceitful and unfaithful.  This disease takes away an individual’s personality, but not their soul.  Dig deep into their whole being and love that soul, that person that you knew before the disease.  Love the person and overlook their actions because nagging and contention will only make you forget who this individual once was, and the ability to treasure that memory.

Reaching Out

Reach out to other families like yours who are suffering.  Find strength in numbers and in serving others.  Again, it is an opportunity to forget yourself and your woes for a moment, and think about what others are trudging through as well.

Giving Support

Be there for each other.  Voice your frustrations, but more often voice your love and affection towards your family and to those you care about and who are struggling the most.  Just like we depend on others for strength and support, we can also be that foundation to someone else.

Be Strong, Hang on to Hope, and Don’t Give Up

Patience can wear thin, but your strength comes from every fiber of your being.  Be strong for your family.  Be strong for the HD affected person in your life.  Be strong for those who grow from your experience and your strength – including yourself. 

To read more about Huntington's disease and our experience, including the treatment that has been helpful to my father, please visit his website: www.philliphardt.com

Wheat-free... one step at a time

I love to bake.  The problem is that I have learned that my body does not process wheat very well.  In fact, my bowels and my digestive tract seem to only function properly when I cut wheat completely out of my diet.  Before that, I had a lot of pain and discomfort and all of that other good (bad) stuff around my midsection, not to mention the dry patchy rashes I also got on my skin – mostly my upper arms.  And when it got really bad, it felt like a dry patchy rash lined the inside of my digestive tract causing a constant soreness and sharp pains as food passed through the whole… way… down. 

So obviously, I was soooo glad to figure out that wheat was the culprit... except that it meant that my whole diet would have to change.  And for any of you out there that have tried to bake or even cook with wheat-substitute flours – you know that it can be a challenge – especially if you are on a budget.  

So here enters Pinterest into my dilemma.  I’ve found that a lot of recipes posted on Pinterest are tried and true.  So almost 6 years into my “no more wheat” quest, I finally started to find some promising recipes.  Who knew that a pin board for just about anything could be the solution to my Wheat-free baking and cooking problem? 

Well, the start of the solution anyway.  A lot of recipes called for odd ingredients that are expensive and hard to find.  And some things just aren’t feasible if they cost an arm and a leg or if you have to travel across the world to get them.  However, the more I learned about different flours and leavening agents, the easier it became to recognize recipes that I knew would work AND what ingredients I could substitute to make the working recipe a feasible recipe for my circumstance.

Now, Wheat-free doesn’t always mean Gluten-free, but Gluten-free always means Wheat-free.  So Gluten- free recipes are always safe, but they never include ingredients that I prefer to use in my flour blends like regular oat flour.  And most things taste differently with different flours, so the rest of my family prefers to still eat wheat.  So I usually end up making two of everything, unless the taste and texture is almost identical – like with oat flour blender pancakes.

So for me, though this was a good and needed discovery for my personal health, it adds to the daily complications that I already get to monitor.  But you know, it is a lot easier to deal with daily complications when you feel healthy, than when you feel like you would rather curl up in a ball and stay in bed all day.  

So my quest continues as I learn and eventually find things that work for me!  Wish me luck… and continue to post your tried and true Wheat-free and Gluten-free recipes on Pinterest so that I can stumble across them!  I appreciate it!

Please visit my blog for more on my wheat-free journey:  www.wheatlovesmenot.blogspot.com

Hemophilia Symptomatic Carriers…Are You Out there?

I feel like I am on a roller coaster - up and down, up and down.  And did I mention that I don’t like roller coasters?  I get sick trying to do a cartwheel or doing a flip turn in the pool.  But any time I broach the symptomatic carrier topic, it starts all over again.

Does anyone else go through this?  I am a woman.  I am a hemophilia carrier.  I have bleeding issues.  They are not severe, usually, but I still have them.  When I go to the dentist, when I strenuously exercise, when I bump something pretty hard, and when I clumsily fall.  The bruises and bleeds come and I can feel them.  I can’t always see them.  But that isn’t good enough for my Hemophilia Treatment Center.  I guess they want me to look like a severe hemophiliac, swelling like a balloon to acknowledge that I am a woman and I bleed too.  But my son is moderate/mild, and he doesn’t normally swell up like a balloon.  We treat him with Factor IX when he feels a bleed coming on - I don’t have to see it to know that it is painful to him and that it affects his activity.  When he has a bleed we treat it.

So I found a different hematologist, outside of the hemophilia treatment center, to see if he would treat me like a mild hemophiliac…which technically, at 28%, my Factor IX levels should diagnose me as.  And that is what he told me.  He said, “You are a hemophiliac”.  Finally, someone heard me!  So my first question is…why are symptomatic carriers called symptomatic carriers instead of hemophiliacs?  Maybe if that changed we would be treated just like they treat the boys.  My second question is…if my factor levels are under 50%, which is the number they use to diagnose boys, why is my hemophilia treatment center so against giving me that diagnosis so that they can treat me?

Well, here is a snag that I’ve come upon, multiple times.  Each time my Factor IX levels are tested, a different number comes back:  sometimes as high as 78%, and sometimes as low as 28%.  So here is question number three…why does it fluctuate?  According to the nurse at the hemophilia treatment center, my numbers shouldn’t fluctuate – therefore I don’t have hemophilia.  I know, the logic is not there, but she stands by it.

So do you understand now a little bit of the roller coaster I’ve been on?  Not only emotionally up and down with people telling me that I am crazy for thinking that I have bleeding issues sometimes, and then finding out that I REALLY DO have bleeding issues sometimes, and then being told that I shouldn’t have bleeding issues.  What? 

But the roller coaster is also up and down physically with trying to engage in exercise programs and sports to stay healthy, and then having to be sidelined with a joint bleed (that I really am - but not really having).  For years I had to endure these bleeds without access to factor replacement.  And now, well, let’s just say my joints will never be the same.

So let me tell you some of the things I’ve noticed with my fluctuating factor levels.  As a teenager, I really noticed a lot more bleeds.  I started playing soccer at age 10, and had a few ankle “injuries”, but it wasn’t until high school soccer that I really began to notice the constant bruising and knee and ankle “injuries”.  Yes, high school soccer is a little more competitive and that may have contributed to the increase, but to tell me I did not have a problem and was not experiencing the bleeds is just downright rude.  I had to ice in a cold whirlpool sometimes before every practice and home game just so I could play through the pain.  If that is normal for a non-hemophiliac, then why weren’t all of my teammates also going through the same thing?  And that one time in practice after 20 minutes of working on roundhouse kicks – which led to a hip “injury” and two weeks on crutches – must not have been related to hemophilia symptoms either.  Not to mention my wisdom teeth extraction and two weeks of heavy bleeding, or the D&C surgery after a miscarriage and the excessive pain and bleeding for over a month.  I could go on and on.  My favorite is another hip "injury" after training for a half marathon.  I was literally down for three months.  It hurt to sit, stand, lie down, and walk.  Yep, the same exact hip that I “injured” in soccer years ago.  At that point I was fed up with the roller coaster and wanted to demand to get off. 

So besides noticing my bleeding issues increasing as a teenager, I also noticed that my levels seemed to fluctuate depending on my menstrual cycle and what time of the month it was.  And then when I went on birth control, it seemed that my bleeding issues almost went away completely, unless I missed a pill or took it late, and then it would seem like my factor levels dropped drastically for a short period of time.  So my fourth question is…could hormones play a role in Factor IX level fluctuation?  And if so, is it possible to calculate when my levels would be lowest and when they would be highest? 

With my last pregnancy, my new hematologist decided to test my factor levels regularly throughout the pregnancy, and then give me factor replacement therapy after delivery for two weeks after to reduce bleeding and to help me heal.  Sure enough, as my pregnancy progressed, my hormones increased, and my factor levels consistently increased, peaking at 78% right before delivery.  My obstetrician, last minute, decided to give me factor replacement right before my scheduled delivery.  So I received the factor, and eight hours later delivered my third boy.  They drew blood afterward and my levels came back at 28% (with factor still in my system!).  Really?  My factor levels can fluctuate that much within 8 hours – with factor in my system, and no one has thought that maybe we should figure out why?  Are there others out there like me? 

So here are some more questions:  Why is my case so different from any other symptomatic carrier (hemophiliac) woman with a bleeding disorder who’s factor levels don’t fluctuate?  Do they really know that they don’t fluctuate?  Have they tested thousands of symptomatic carriers (hemophiliacs) regularly over an extended period of time to compare data to?  I doubt it – especially because they won’t even diagnose any as having a bleeding disorder.  Why would a symptomatic carrier (hemophiliac) woman come to be treated and get her levels tested regularly if she is just going to be told the whole time that she doesn’t have bleeding issues, and that every bleeding episode in her life must have another explanation rather than hemophilia?  Yep, I’m going to ask it again…really?

I can tell you this, the two weeks of factor replacement after my last delivery made my recovery amazing.  I mean, compared to my other two deliveries:  night vs. day.  I’m not only talking about the amount of bleeding (that was so much less too!), but also the time it took to heal from the episiotomy and to just heal in general.  Wow.  If I knew it could have been like that before, maybe we wouldn’t have waited 10 years before having our last child.

So I’m asking…hemophilia symptomatic carriers – are you out there?  Let’s start talking amongst ourselves and compare stories.  Let’s start trying to figure out what the doctors refuse to.  If we have an idea of what we want to look for, like hormone levels compared to factor levels over a long period of time, then maybe we can go to our doctors and request it.  Or if there are enough of us out there tired of riding on the same roller coaster, maybe a factor company will have a research study done.  More diagnosed hemophiliacs mean more business for them, right?  I want to live in that kind of world, where if I want to be diagnosed and I have the symptoms, than I can.  And not only that, but then I can actually be treated for my symptoms too!  If research studies could be done, then there would be information out there for the doctors to finally realize that their textbook answers will not cut it when it comes to WOMEN HEMOPHILIACS.  The textbooks are wrong.  I say, let’s make history and rewrite the textbooks.  It is about time.

Are you out there?  Talk to your friends and neighbors.  Talk to your treatment centers and factor companies.  If we work together, it will be a lot more effective than just one voice on a blog. 

I’m ready to be heard! 

I’m ready to walk on solid ground!

Will you help me spread the word?

comment below or send to comments@michellebooks.com