FTD Genetic Link – Live Your Life Every Day

A friend asked me recently, “What is your greatest fear in life?” Without hesitation, I choked out, “That my children will get this crappy disease.” My body curled into a fetal position, and I cried.

My husband has a rare, terminal brain disease called Frontotemporal Dementia (FTD). It can occur spontaneously or in 40% of the documented cases passed genetically.

My husband and I met with a genetic counselor a few weeks ago to discuss the genetic link in this disease. I started with saying that I was 99% sure my husband’s father had this disease (based on 168 pages of medical records we miraculously were able to retrieve from the VA hospital). The counselor replied she was 99.9% sure his dad had the disease. This was crushing, but at the same time affirming, as there was still the thinnest thread of doubt spun by those closest that his father was actually afflicted with diabetes, schizophrenia, too much drinking, early onset Alzheimer’s or any number of other explanations that never seemed to fit.  My husband has the only documented case in the US of this particular gene mutation code on the MAPT gene.  It is absolutely mind boggling.

The counseling appointment was one I had waited and pushed to get for eight months. Our local neurologist had ordered a very sophisticated genetic test for my husband. Finding a gene mutation would confirm his disease and pave the way for future disability claims.  The implications were much bigger than that, though.  This disease can be genetically passed to our three sons. We learned this devastating news without any genetic counseling. At the risk of digressing too far here, this test never should have been ordered and the results shared with us without that counseling. There was already plenty of supporting evidence that my husband had the disease, and it had been passed from his father before ordering the test.

The genetic implications of this disease is grief that I have compartmentalized. There is no way I am ready to process FTD having been passed to my children. Yet, the most pressing question from my children on a near weekly basis is, “Will I get this disease?” It’s a question that has to be answered, carefully. The answer has the potential to chart the rest of their lives.

“Will you test the kids?” and “What are the chances your kids have this disease?” are the questions most commonly asked from friends when talking about the disease and the topic of genetics is raised (which is often). Stop asking these questions, please. But, more importantly, stop telling my kids to get tested. Legally, they cannot be tested until they are 18 years old.  This is not like testing to see if you have a higher percent chance of developing breast cancer. If you have the FTD gene mutation, there is a 100% chance you will develop the disease. 100%. Your fate is doomed. There is no treatment or cure.  And, this disease is ugly – one of the ugliest. My kids live with it every day. They do not want any part of it. The odds of having the gene mutation are higher than any parent can tolerate. Heck a 1% chance would be tough for a parent.

So, what do I tell my kids when they ask if they will get this disease?

I say you have a higher chance of getting the disease than the general public.

I say you could walk out the door and get hit by a bus today. No one knows how long they will be on this earth.

I say live your life every day. Do not pass up any opportunity that comes your way to do something fun or adventuresome.

I say have kids. Be a dad. There is a lot of life to live and being a parent is a tremendous joy.

I say pick your wife well. You will need someone that is willing to walk to the ends of the earth for you. Pick a woman that won’t leave you when the times get tough – if they do.

I say be kind. Other kids are struggling, too. Other kids worry about what they may get from their parents. You are not alone.

In the future, when the time is right, what will I tell my kids?

I will say it is your choice and yours alone to be tested. I will say that a lot of thought and counseling needs to occur before you choose to do so. This information is a huge burden to carry forward.

I will say that there is testing that you can do to prevent passing this on to your children. Investigate your options.

I will say that I have your back on any decision you choose to make in terms of fertility donations, adoption, or embryo / fetal testing.

I will say that I am sorry. I didn’t know. We didn’t know. And despite my best efforts to protect you, in this instance, I could not.

dna

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Sucker Punched – Getting Our Wills

Woke up in a great mood.  Easter was over, and it had been a relaxing day.  My three sons were returning to school from spring break.

After some procrastination (mainly to ensure our huge house transactions were complete), I scheduled a followup appointment with our elder care attorney to finalize our wills and my Power of Attorney document.  The appointment was today.  We started this process a year ago.  It finally percolated to the top of the priority list, again.

We were sent some basic questions to think about before the appointment mainly involving when our kids might receive money should something happen to both my husband and me.  No problem easy decision – 25 and 30 yrs old.  The decisions regarding my husband’s finances also seemed fairly simple.  Sadly, we have known for almost 18 months that my husband has a terminal disease.  His assets will roll to me to take care of the kids.

It hasn’t happened in a while but there have been many over the course of our journey with my husband’s disease – a sucker punch.  It came out of nowhere, today.  Right in the gut.  Sucked the air out of my lungs.

What happens if I die?  Wait.  That is not part of this.  It can’t be.  My kids are already losing their father.  Nothing can happen to me.  That hasn’t even been a fleeting thought of mine.  Yet, here the attorney is asking me – what will happen with your assets if something happens to you?  What about your kids?  I couldn’t even focus.  I certainly couldn’t look at my husband.  The words came choking out, “My husband can’t manage our money or our kids.  He can’t even drive our kids anymore.  Oh, right.  They will have to go somewhere else if something happens to me. My sister will take them.”

Next question:  Who will take care of your husband?  Wait.  That’s me.  It’s always been me.  Again, my response came whispering out, “I guess that would have to be his brother or mother.”

Why I had not considered any of these possibilities was beyond me.  For the last 5 years, I’ve been hyper-focused on making sure my husband was ok, his care was managed, and our family had the resources we needed to carry on.  Never did I think about my own mortality and the complications that would create.

Oh man.  Just when I think I have a bit of a grip on things,  I realize I don’t.  So many things are just out of my control.  But, sucker punch – back at you.  I started making phone calls, sending emails, and getting commitments from those close to us so that my kids and husband will be taken care of in the unfortunate event something does happen to me.  God.  Please.  No.  Not any time soon.  My kids need me.  They are losing enough.  But, I can now sleep knowing that there is a plan in place.

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Let Me Feel

Let me feel.  You must.  Please do not temper my need to feel.  Sometimes it requires tears.  Many times it requires venting.  When it hurts the most, it requires writing.  It’s a way to process, express, release.

Feeling is not just grief.   It’s guilt.  It’s the guilt of being able to thrive in the midst of a tragedy.  It’s the guilt of not treating your loved ones the way you know you are capable of treating them.  It’s the guilt of being selfish (because you just have to be a little bit to survive).

So, if you see me and I’m having a down day, let me.  I’m ok.  It’s my way.  I’ve learned that tomorrow is a new day and a new chance to feel again.

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Warrior

Warrior.  Several friends (completely independently of each other) following our story have referred to me as a warrior.  This is not how I view myself.  I’m just a wife, mom, and friend doing what is necessary to help and protect my husband and family.  Yet, after careful consideration, there may be some truth to his warrior moniker.

It has been a battle.  But, why should it be so difficult to do the right, necessary things?  The safeguards established legally and medically become huge stumbling blocks for a simple woman trying to navigate her way through a rare, terminal illness in her spouse.  There is no road map that anyone provides.  Three doctors advised (their only advice) to “get our affairs in order” when my husband was diagnosed with FTD (brain disease).

Here are just a few of the battles already fought.  Yet, it feels like I am only on mile two of a twenty-six-mile marathon.  I provide this list as encouragement and possible road map to others.

  • Pushed for five years to convince a general practitioner, two neurologists, and a neuropsychologist in the medical community that there was something not right with my husband.
  • Established a family history when there was none by obtaining critical medical records belonging to my husband’s father and talking for hours with the only living relative willing to share information.
  • Insisted on specific testing when the doctors refused to believe the troubling symptoms in a 45 yr old man.
  • Worked tirelessly to convince my husband’s family that he is not well and will continue to decline. There is only one outcome to this disease, and it will not be easy or pleasant.  Even a proven gene mutation has not been enough to make them believe.  Yet, I do not give up.
  • Confronted a neurologist’s office about a HIPAA violation. Had to establish who was the decision maker and the one in charge of my husband’s care.  It did not matter the profession of other family members or their relationship with the neurologist.  I am the one with the most comprehensive knowledge of my husband’s symptoms and will continue to advocate for his care and rights.
  • Protected my husband’s job and benefits by seeking advice from an employment attorney.  Carefully got him under the FMLA umbrella and navigated a new relationship with the owner of his company before he could be fired. He isIMG_6296 still working long after most with this disease.
  • Met with an elder care attorney to establish financial safeguards and seek advice on making the tough decision to sell our house of 14 years. Based on the attorney’s advice, I updated beneficiaries, account titles, deeds, power of attorney’s and wills.
  • Found, bought, and closed on a new house. Downsized our existing house by half resulting in letting go of many personal and sentimental items.  This decision was driven to become mortgage free and create a less stressful living situation (smaller house and less “stuff” to organize and manage).  It was also another important step to protect our finances.
  • Prepared our vacated house for sale which involved cleaning, painting, hiring contractors, and significant yard work – plus emptying it of too many belongings (lots of real estate agent help and friends to accomplish this one).
  • Resigned from every volunteer activity I participated in, in an effort to save my time and strength for my family.  Gave up my personal career ambitions to keep my focus where it should be.
  • Visited our local Veteran’s Affairs office to determine the benefits afforded my husband. Obtained paperwork and spoke with the veteran’s nursing home to pave the way for future care.
  • Met with school counselors to establish a “village” approach to supporting my three children’s emotional needs.
  • Informed coaches, youth group leaders, swim team families, and friends of our plight when my husband really did not want the diagnosis shared.  It was to build our absolutely necessary support network and allow some grace for my husband’s troubling behaviors.
  • Struggled with but ultimately decided to go public with our family story in the hopes that our safety nets would grow and others could step up and be male mentors to our boys.
  • Asked for and have scheduled several key appointments for a driving assessment, genetic counseling, and occupational therapy.
  • Applied for and received a grant to attend a national FTD conference to connect with the leaders in the fight against this disease and other caretakers in the trenches.
  • Planned several big vacations to enjoy the remaining good times with my husband. Hopefully, they will also create special memories the kids can carry forward of their father.

As I review this list, I am awe of myself.  Never, did I think I would have the strength to accomplish one or two of these items in the midst of paralyzing grief.  Somewhere deep down, I’ve drawn on the various training and experiences of the past 47 years plus the support of some of the most amazing friends (siblings and mom) anyone would want in her life to handle each of these challenges.

Additionally, every morning I tell myself it’s time to get on my metaphorical “big girl panties.”  Some days I purposely wear boots, because I know it needs to be a “kick butt” kind of day.  There are certain jewelry pieces that I rub while silently thinking, “You can do this, Kat.”  These may seem silly,  but I keep telling myself – whatever it takes.  My husband and kids are too damn important to let them down.  So, warrior?  Maybe.  I’m humbled beyond belief that anyone would see me that way.  I’m truly just a simple woman, mom, wife, and friend – with a kick ass attitude, when needed.

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Hand-Me-Down Swingset

Today, I shut the front door on our house of 14 1/2 years.  We had planned to move when the oldest two left for college.  Due to my husband’s terminal illness, that timeline was pushed up by five years.  I was not ready.  There were too many planned projects incomplete.  The nurseries had not been fully converted to teenager rooms.   But, it was a necessary step to simplify our life for my husband.  He can no longer tolerate clutter and chaos.  The house was just too big with too much stuff for him to function well.  We needed to downsize to prepare for when my husband can no longer work and mortgage payments will become more difficult.

So, as I say goodbye to my house, I am choosing to remember the special memories and not dwell on yet another thing we are losing.

The hand-me-down swing set in the backyard.  Loved squeezing into the two-seater swing and laughing with my toddler boys.

The yearly scarecrows standing in the front yard depicting whatever our family was into that year.  The “ball and chain” 10 yr anniversary display and the pregnant Momma ‘crow are the most memorable.

The broken trim on the living room columns were the oldest son hung his hammock and tried to swing to the ceiling.

The one laundry room tile that rocked when you stepped on it because despite my best efforts just couldn’t get that 50 yr floor level in that spot.

The monkey grass that needed to be mowed at just the right time in the spring so it would grow nicely in the summer but not get too crazy.

The Frisbee and football games across the front yard.  The homemade PVC pipe goal post.

The closet door with the height markings from not only our boys but also the previous owners’ children.  The new owners have vowed to keep up the tradition with their three.

The scuff marks on the wall in front of the bar stools where the kids sat and talked to me while I made dinner.

The boot print stain in the middle of the kitchen floor from the bozo that installed the hardwoods connecting the living spaces on the first level.

The bathroom that became a storage closet that was once packed with toys, games, and craft supplies.

The laundry room pocket door that never worked quite right.

The master bathroom that we all shared for three years while the kid’s bathroom was being remodeled.

The hydrangea blue paint that I picked out for my middle son’s nursery.  It was the first house project we tackled ourselves.  It still had the shadow of the rocket ship I starched onto the wall before he was born.  He cried every night for a month when I took it down.

The sweet neighbors that became part of what we dubbed the “30 Something Group” – Lisa, Yung, and Larry (two times 30).

The riding toys that made a million laps in the shared driveway.

The yells at the teenage drivers speeding down the street.

The annual pumpkin carving party.

The strings and other contraptions hung from the 2nd floor to the first in the two story entrance.

The balls and Nerf bullets lodged in the foyer light fixture.

The Magnolia tree and its constant leaf shedding.

The lush front yard grass perfect for slip and sliding or laying on during a sunny, spring afternoon.

The front fence where you can still make out “Austin” from when he wrote his name in silly string.

The circle of glue on the front steps from the quarter that was glued there as part of Matthew’s April Fool’s Day birthday party.  The laughter over all that tried to pick it up and couldn’t.

The crack in the hallway slat door where the oldest lost his temper and punched it.

The sharpie masterpiece drawn by the baby on the hallway wall.  He was so proud.

The hours of “chase” through the circles created by the kitchen and den or living room and hallway.

The love, laughter, fights, hyperactivity, ball kicking, birthday parties, baby rocks, dinners, Legos, magic shows, kite flying, and driveway car crashes that encapsulated our family in our first home.  As I often said to my neighbors through the years, “See you on the Riviera.”  To the new homeowners, I hope you enjoy the Riviera as much as we did.

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Sixth Birthday

Today is our youngest son, Jackson’s, sixth birthday.  For years, I’ve considered my adult life to be “before Jackson” and “after Jackson.”  His birth was a considerable landmark in my life and literally rocked my world.   I became unexpectedly pregnant at 40.  My husband and I had two sons (10 and 9) already that seemed to max our parenting abilities.  Adding a 3rd child seemed overwhelming.  But, we embraced this little blessing and limped through the pregnancy.  Luckily, I’ve always enjoyed being pregnant which made it a bit easier.  There were two scares early on and extreme tiredness but overall a beautiful time.

The day before induction, my mother had what we think was a minor heart attack.  I spent the day at the hospital making sure she was ok and getting the medical tests necessary to ensure her continued good health and well being.  Selfishly, I knew I needed her to stick around for a while, too.  This medical crisis brought my twin sister from Georgia to care for my mom.  Attending Jackson’s birth, was a welcomed consequence of my mom’s situation.

During the induction, my sister came into my hospital room.  There was tremendous fear that I was not going to make it through child birth.  At 41 (or any age), the risk factors are extremely high.  My sister had married recently and did not, yet, have children of her own.  I told her, “Cherie, if I do not make it, Jackson is yours.  Please take him.”

I knew.  I knew my husband would not be able to raise him.  Deep down. I just knew.  It was the first admission to myself that something was irreversibly wrong with my husband.

And so, today, I will choose to live through the eyes of my 6 year old.  His innocence.  His amazing gift opening abilities to make all feel special about what they selected for him.  His joy over the ice cream cake that he picked out for himself.  His sweet early morning snuggles and upside down birthday hug before school.

Because, any other alternative is just too darn hard.

 

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What Year?

Overheard a conversation between our five year old and my husband this morning.  They were talking about West Point.  My husband’s most proud accomplishment (besides his kids, of course) was his acceptance and graduation from West Point.  It has been a theme in our marriage.  Our wedding took place at the Cadet Chapel in the Fall of 1999.  It was the same weekend as his five year reunion.  Our relationship was solidified on those hallowed grounds 19 years ago.

Some of our closest friends are fellow cadets that were in his project group at West Point his senior year.  They were the two best men in our wedding.  We’ve attended Army – Navy game events, sought out other grads at every place we’ve ever lived, participated in the 10th and 20th year class reunions, and decorated our house with West Point memorabilia.

So, this morning when my husband could not recall the date West Point was founded, it stunned me then broke my heart.  Every once in while, my husband realizes a bit of what he is losing or lost.  It is not often as his disease fools him into thinking he is ok.  This morning was different.  I could see the fear in his face and the disappointment in his eyes.  This is information that was emblazoned into his memory from his first day as a plebe (freshman).  He couldn’t remember the date.  Actually, he was not even sure of the correct century.

Maybe tomorrow he will remember.  He will tell us all.  Then, his world will be right for those few minutes, at least.

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