The Journey has only begun – Our FTD diagnosis April 2017

DISCLAIMER:  Those that know our family – please do not approach my husband about his illness.  He is a prideful man and does not want others knowing he has a problem with his brain.  I on the other hand can no longer keep this inside.  The success of our family will include my mental health.  This journal is part of my personal sanity at the moment.  I’ll kindly ask that you do not ask my children either.  They will share what they want at the right time in the right space.  We do not need anything at the moment except kindness and friendship extended to my husband (help with rides for my kids is always awesome, too)!

Five years.  It has taken five incredible years to finally have an answer to my husband’s symptoms.  The road has been long and rocky — so much to navigate medically and emotionally.  My hope by sharing our journey is to help increase the understanding of this little known rare disease and to also, perhaps, offer a landing place for others seeking answers.  While there is much technical and symptomatic information available on the Internet about FTD, there is little to help families identify and navigate this diagnosis from an anecdotal standpoint — especially for a vibrant dad of 46 yrs who is still raising three school-aged children.  I offer our story as a raw account of the family dynamics and medical hoops we jumped through to reach our diagnosis.  It is not an attempt to place blame on those mentioned in our story.  Rather, it is an effort to further the understanding of the challenges of getting a diagnosis for this savage disease.

Where to begin?  I met my husband 20 years ago in Hawaii.  He was always a bit quirky and perhaps too serious at times but also fiercely loyal to friends and our family.  Early on he shared stories of his childhood.   His father became ill at 40 and his parents divorced.  It was revealed later that he was diagnosed with early onset Alzheimer’s.  There were whispers of schizophrenia as well.  His illness was always a taboo topic and clearly the source of great pain in the immediate and extended families.  My  husband harbored bitter feelings toward his father.  He always felt his father was a failure as a man so he worked incredulously to be the father to his own kids that he did not have in his childhood.

As one who often seeks the deeper understanding of things, I tried to glean information about my father-in-law’s illness at any opportunity.  It was part of the family history and an important thread that defined my husband.  The first clue came after attending the funeral of a paternal uncle.  We spent some time at the graveside after the service.  My husband’s grandparents and several aunts and uncles were all buried close by.  I noted the family members’ dates of birth and death.  It was stunning.  My husband’s father died at 55.  One of his sister at 50.  The grandfather was only 58.  The other siblings and grandmother all lived to a more natural age.  What did this mean?  The coincidences of early passing were troubling.

My husband has been mostly estranged from his father’s family in TN.  As his father’s only biological son, this was confusing.  Why did his dad’s family not want to have a relationship with my husband?  One cousin initiated and has maintain some contact with us.  Sometime in 2010,  she traveled from TN to meet our family.  She was lovely.  In some stolen moments, I asked about my husband’s dad and what she knew about his illness.  Again, the pain of his condition was very evident.  She offered that he lived with his mom for many years.  He worked for a while in California after the divorce but was sent home.  The cousin visited as a child, and he helped her with her math homework.  Eventually, he was no longer able to help.  He spent many hours “wandering” in the house and neighborhood.  His schedule was extremely important, and he would get highly agitated if the schedule was disrupted.  Little else was offered but these nuggets were appreciated.

Fast forward to 2012 — shortly after the birth of our surprise 3rd son, my husband (now 41) began having difficulties at work.  He would behave inappropriately (unprofessionally).  There were times when he would bang on the window at co-workers walking through the parking lot.  He would try to scare folks coming around the corner. One of his favorite pastimes was tapping people on the opposite shoulder.  Some would laugh but most of his co-workers became annoyed.  His social lunch group slowly disbanded as people no longer wanted to be around him.  He and I talked repeatedly about his behavior and that he needed to stop being silly.  He would write himself reminders to “keep it serious” but even the reminders did not work.  Meanwhile, his work suffered as well.  Managers grew tired of his constant questions.  Co-workers became frustrated with his lack of independence and continual need for them to “spot-check” his work.  He was slowly pulled away from technical tasks and put on projects that only required repetitive tasks or were more project management in nature.  This was a man that has a master’s degree in mechanical engineering and was a top graduate at West Point.  He was trained how to behave and certainly could handle complex tasks earlier in his career.  What was going wrong?  My husband used the birth of our son as his reasoning for his childish behavior.  He talked repeatedly about the stress of a newborn so late in life and the lack of sleep.  It sounded somewhat convincing but left me and others unsettled.  I wondered if his behaviors were a coping mechanism for his failing memory.  He was already a list maker and frequently forgot names of acquaintances.  We rocked along.

In 2014, I ran for a political office.  It added a lot of stress to our family and marriage.  Politics even at the local level can be a tsunami of drama.  After the defeat, I began to notice memory issues with my husband.  The progression of this disease in my husband seemed to have a stair-step quality to it.  After stressful events, the symptoms become more pronounced.  My husband had trouble coming up with people’s names, couldn’t remember how to get to the doctor’s office he had been to the previous week, no longer used drive-thrus, stopped being interested in doing our taxes and monitoring our finances, and sought personal shoppers at Target and Walmart because he couldn’t locate routine items in the store.  We both independently researched Alzheimer’s knowing the possible family history.  I started attending an Alzheimer support group seeking emotional support.  There was no one under the age of 70 in the group.  It was isolating.  We did not have an official diagnosis so eventually it felt as if I was trying to force one for my husband.  The pieces just didn’t quite fit and my husband’s symptoms didn’t always align with the others in the group.  I stopped attending after my mother made several comments about how depressing the meetings must be and did I really need that in my life.  (I love you mom).

Here I will digress — this story would not be complete without including the blame and guilt felt over the last five years.  I remember distinctly sitting in Waffle House with my aunt (mom’s sister).  She is an attorney and self-proclaimed authority on most matters.  She looked me in the eye and told me that my husband’s issues were actually mine.  I was too capable and had unrealistic expectations of my spouse.  There was nothing wrong with him — it was me that needed some self-analysis.  Hmmm.  That was a tough day.  There were other comments from my sister and mother that made it clear that they did not believe me early on, either.  It was just me being the mean wife.  They constantly told me that I needed to be nicer to my husband and all would be fine (shouldn’t we all be little nicer to our spouses?).  They were right on that front and this will always haunt me.  In case it is not mentioned again — always listen to and believe the caretaker.  They are the one in the trenches!!

Early in 2015 (age 44), I invited myself to my husband’s yearly check-up with his general practitioner to discuss the memory concerns — I had not tied the other behaviors to his condition yet.  Our visit was met with some skepticism, but the doctor did agree to refer us to a nearby neurologist — “as a precautionary measure.”  My husband convincingly explained away every symptom.  To keep the family informed, I shared our appointment and concerns with my mother-in-law.  We went to dinner and talked about the memory symptoms and my fears.  It was difficult to read how she felt about the news as she was mostly quiet and did not ask many questions.  My mother-in-law’s brother is a neurologist.  After my visit, she called him and talked to him about our upcoming neurology appointment.  The uncle called my husband and told him that his father did not have Alzheimer’s.  He thought his father had diabetes and a bad marriage.  Additionally, if there was something wrong, why would you want to know, especially, if there is no treatment or cure.  His advice was to just live his life.  Everyone has forgetful moments.  I almost blew my top.  This uncle has had very little interaction with my husband or me over the last 20 years.  Why tell my husband everything he wanted to hear (he’s fine) without knowing any of the facts, without talking to me, without assessing his condition.  My husband suggested canceling the neurology appointment because clearly there was nothing wrong.  I replied, “Absolutely not!”  It is easy to say — “just live your life” when you are in your 70’s and diagnosed with Alzheimer’s.   When you are in your mid 40’s and have three dependent children and a stay-at-home wife, it is not so simple.  My husband is fortunate to have long-term disability insurance through work, but it goes away if he is fired.  At this point, I was concerned about him losing his job.  No way was I going to squander an opportunity to get a diagnosis for my husband.

After waiting weeks, we traveled with much anxiety to a nearby town for the neurology appointment.  The doctor was close to retirement and met us with even more skepticism.  Before even a cursory evaluation, he launched into a diatribe about how unlikely it was that my husband’s father had early onset Alzheimer’s.  There was no evidence to support him having it.  It was statistically (nearly) impossible that he had Alzheimer’s.  What?  This guy had not even assessed my husband.  It felt as if we had heard this before.  Deep breaths.  Being the strong-willed advocate for my husband (and likely labeled overbearing wife), I stated that we would not be leaving the office until he had at least done the basic mini-memory test on my husband (officially called the Mini Mental State Examination MMSE).  It is a simple 10 question test to evaluate various parts the brain’s memory.  The neurologist complied.  My husband passed the test but broke into a sweat and was shaking due to his intense concentration to do well.  Neither the nurse nor the doctor took note of his struggle.  The doctor dramatically closed my husband’s paper file and said there was nothing he could do for my husband that he was fine.  This was exactly what my husband wanted to hear.  He practically skipped out of the office.  I bawled all the way home — anger, frustration, and confusion raged.  In my heart, I knew this was not the end of the road.  But, this doctor placed tremendous self-doubt in my mind.

Leading up to and after the appointment with the neurologist, it became clear that one vital key to helping my husband was to get his dad’s medical records.  The first step was to obtain a copy of the death certificate.  We filled out the required forms and shipped them off to TN.  It arrived back.  The cause of death was not very revealing – heart failure.  There are two repositories of medical records for veterans.  One is held in the national archives and the other at the local VA hospitals. My husband’s father was a vet, and we learned that he had spent some time in the VA hospital in Murfreesboro, TN.  After much research, I sent a request to the national repository to obtain the VA medical records.  The turnaround time is 4 – 6 months.  Many months passed and a letter was returned that they did not have the records.  We would need to seek them from the VA hospital directly.  I reached someone in the records department at the VA hospital, and it was explained that we would have to meet with the hospital’s patient advocate in person in order to petition for the records because my husband was not listed on the death certificate.  The only people on the death certificate were my husband’s grandparents, and they both had passed.  My husband is the only living direct relative yet the records could not be released.  It was a dead end for now as convincing my husband the importance of a trip to Murfreesboro to open those deep wounds (especially when nothing was clearly wrong) just wasn’t going to happen.

The next 18 months (Spring 2015 – Oct 2016) were tough.  Every time my phone rang, I was sure my husband had lost his job.  Maybe I did have this completely wrong, though.  I no longer felt comfortable sharing concerns with friends and family and pulled away from many.  I was completely unfair to my husband.  There was a broken record in my mind… “you say there is nothing wrong so why can’t you remember where to find the screw driver?”  “You say there is nothing wrong so why can’t you remember for the five minute trip to the grocery store what flavor ice cream to buy?”  I found myself giving him little tests to see if he could come up with a word, remember a past event, or navigate himself to a local store without my help.  In addition to the memory deficits, more troubling behaviors became pronounced.  If I left the house, he would call me before I could reach the end of our street.  Other phone calls throughout the day were plentiful — it felt like a dependent child with separation issues.  He picked up a new hobby, entering sweepstakes, and it became a daily obsession to enter his contests and check for winnings.  In social interactions, he had trouble keeping up with conversations.  To compensate, he frequently dropped puns.  He would laugh and others would stare.  His eating habits changed, too.  His hamburgers would be smothered in BBQ sauce for each bite.  He hoarded sweets like Honey Buns in the freezer at work.  His morning coffee would be filled half-way with vanilla cream.  I began to question what this meant.   Was I just growing tired of our marriage and the traits that were so endearing at the beginning of our relationship were now like fingernails on a chalkboard?  Was my husband actually changing or had I never really noticed these things before?  The more I pulled away from my husband, the tighter he tried to hang on.

In December 2015, it was time for me to make a change.  My stay-at-home mom days had to be over.  I did not know what the future held but my gut said I needed to return to the workforce and start rebuilding my skills.  I started as a seasonal employee at a retail store.  The stress on my husband dealing with the kids solo when I worked nights and weekends was too much.  A few months later, a friend recommended me for a part-time job at a small non-profit company – a huge blessing!  The relief my husband felt at no longer being the sole provider was palatable.

Things really started falling apart during the summer of 2016 (age 45).  My husband’s behaviors became so embarrassing in public that I no longer wanted to be around him outside the house.  He talked entirely too loud.  He couldn’t sit for five minutes and watch a football game.  He told the same 5 or 6 stories over and over again to people – often the same stories to the same people.  As soon as he would begin one of them, my eyes rolled.  His stories often had little to do with the current conversation.  My formerly humble husband was now one that bragged about everything — his sweepstakes winnings, his time at West Point, his attendance of Ranger school.  One particular phase preceded so many comments.  It was “For the lack of a better term…”  Often it had nothing to do with what came next.  One weekend when I was away, I returned to find our four year old in the same clothes he had on when I left.  My husband didn’t realize he had not been changed.  Work became “overwhelming,” home became “overwhelming,” getting kids to soccer practice became “overwhelming.”  He could no longer fill out permission slips or other simple forms.  If he thought I was upset with him, my stoic husband cried.  If the kids were hurt, he yelled at them.  At home, my husband would ask where the tape was, and I would reply in the laundry room in the 3rd drawer.  He could get to the laundry room but was lost from there.  It seemed my husband was losing his hearing, too.  This was odd because he had always had eagle ears and could detect candy wrappers being opened in another part of the house.  It was like he couldn’t process the words being spoken.  I often had to repeat information.  His judgment was off as well.  At one point, my husband jumped in the water at the beach and was swimming right next to a pier full of fishing lines.  He later commented about the tremendous pull in the water and how difficult it was for him to get out.  I explained that he was close to being caught in a riptide.  He no longer knew what that was.  He would pick up dead bugs and wave them in front of people’s faces and ask if they wanted to eat them. I worried about him burning down the house.  He liked to dry empty pans in the oven.  He would walk away and forget the oven was on.  Despite repeated conversations to not dry them in the oven and promises to never do it again, he continued. He wasn’t making new memories – especially about mundane things. Physically, he often commented about having muscle spasms.  These were mostly in his chest or feet.  My husband also started bumping into doorways occasionally losing his sense of size and space.  Pointing out his inappropriate behavior was just met with irritation.  He was funny and fine.  I was a witch.  (Note: These symptoms are clear now that we have a diagnosis and understand the disease — at the time they were all a mush of confusion and frustration.)

We visited close academy friends in June 2016.  We see them once a year.  At the end of the three days, one of the friends stated that he could barely stand to be around my husband.  This was the first person that shared this raw honesty.  He spoke to me from a place of love, but it was like a knife in the heart.  He also thought my husband may have ADD.  He noted that his symptoms were remarkably similar to our son who has been diagnosed with that.  We hugged and separated in tears.  For weeks, I pondered again that I had this completely wrong and perhaps ADD (Attention Deficit Disorder) was the problem all along.  Could a stimulant be the miracle drug we needed?

Thank goodness for some of our local intuitive friends.  I am sure they grew tired of me asking — is this just me?  Do you see something wrong, too?  Sometimes just a little affirmation that I wasn’t being a drama queen kept me going.  Eventually, my family began coming on board with my concerns.  The defining moment for my mother was when my husband had no idea who OJ Simpson was and couldn’t remember if her only sister was alive or deceased.

In early October 2016, our family took a cruise.  It was days after the cruise and my husband was still struggling with equilibrium.  He was banging into doorways and walking at an angle.  The symptoms were escalating.  Oddly though, my husband’s ability to recall song lyrics was unfazed.

At this point, I knew it would take some sort of crisis to get us back on the medical track.  The next time could not end the same way it did 18 months ago.

The crisis happened at the end of October in 2016.  I was in Montgomery handling some volunteer responsibilities, and the call came from my husband.  He was being moved from his beautiful window office to a pass-thru room that could barely be considered a workspace.  One owner of the company berated him about whether or not he still wanted to work for the company.  He was being paid way too much for the work he was producing.  My husband was devastated and breathless on the phone.  My heart shattered for him but on the three hour drive home my survival instincts kicked into action.  This is a man I had loved for 20 years — he needed me, and I needed him.

We immediately called his general practitioner to schedule an appointment.  Knowing how slow things can move, I also called a neuropsychologist.  Another urgent consideration was how to protect my husband’s job.  The daily reports from my husband sounded like the company was building a case for termination.  One of the owners of the company began giving my husband small technical projects that required problem solving and programming.  My husband struggled.  He had notes from 2008 that he referred to in order to solve the first simple problem.  It took much longer than the owner expected.

Being a researcher, I turned to the Internet.  Again, Alzheimer’s never fit quite right so I started looking at other causes of dementia.  There are more than I ever imagined.  My husband’s symptoms swam around in my head.  There was information about poor judgment and how the frontal lobe controls that behavior.  Something kept nagging me that this was important.

Small blessings for my husband’s general practitioner.  We arrived at the appointment and the doctor thought it had only been 6 months since our first conversation about possible dementia.  It had been 18 months.  He asked about our previous neurology appointment.  The neurologist never sent him a follow up report (no surprise).  On a whim, I created a list of 11 possible symptoms that I had noticed.  Some of the symptoms were behavior related (repeating the same stories, acting silly at work, wandering at a nearby shopping center during work), processing concerns (trouble following conversations and instructions), and memory issues (uses GPS locally, makes tons of lists, trouble retaining new information).  The doctor became more engaged in the situation as the symptoms were provided.  For the first time, my husband nodded at a few of the symptoms.  He also admitted that he was struggling.  This was a breakthrough.  The doctor commented that there were some real red flags, and it sounded like a frontal and temporal lobe issue.  Yep.  Nailed it.  That made sense.  We talked briefly about the possibility of depression.  It was ruled out.  He immediately sent my husband for an MRI (same day) and offered to provide a report for the upcoming neuropsychologist appointment.  He also drew a large blood panel — to rule out other causes of dementia like thyroid issues, syphilis, lyme disease, diabetes, low B12.  An accurate diagnosis would require ruling out all other causes of dementia.

The blood panel came back mostly normal — B12 was a little low but not enough to cause the level of symptoms my husband was experiencing.  He immediately started taking a B12 supplement.  The MRI came back normal.  Realizing that I needed to start putting a medical file together, I requested a copy of the MRI report.  The reason noted for the MRI on the report was severe headaches and memory issues.  What?  My husband does not have headaches.  The MRI report did not even mention the frontal or temporal lobes which was the concern of the general practitioner.  I questioned whether or not the radiologist even carefully examined the correct parts of the brain.  Going back to the Internet, it is clearly documented that shrinkage of the temporal lobes (atrophy) can be very subtle at the beginning of a brain disease.  With no prior comparison images, any abnormalities were likely overlooked. Ugh.

One bright spot after the MRI test was a conversation between my husband and me.  I reassured him that I was not leaving him regardless of what we discovered.  I was going to attend all his appointments and work to find out what was happening.  You could see the relief on his face — the many balls that he had been trying to juggle for the last few years were quickly falling and bouncing all over the ground.  The stress of trying to cover up his deficiencies at work and home must have been completely overwhelming and likely contributed to his stress and pronounced symptoms.  Just his acknowledgment that he was having some problems was what I needed to turn the corner.  We were now a team fighting together for a diagnosis.

It was time to turn back to the task of obtaining my husband’s father’s medical records.  I did not want to attend another appointment without more family history.  Too many people had discounted the possibility of early onset Alzheimer’s.  One afternoon, I pulled up the VA hospital directory in Murfreesboro.  I called every number in the directory that seemed remotely close to the records department.  As a stroke of luck, a helpful woman answered the phone and guided me on the right steps to get the records without a trip to TN.  The request was mailed immediately.  It had a 3-4 week turnaround.

To work on protecting my husband’s job, I consulted with several friends in HR.  The stress and anxiety over my husband’s continued employment was debilitating.  If it came to it, long-term disability would be the difference between survival and bankruptcy.  They all suggested getting my husband on FMLA (Family Medical Leave Act) and looking at short-term disability.  We put in a request to his company to send FMLA paperwork to my husband’s general practitioner.  My husband saw no need for short-term disability and was fearful of how his co workers would react to him having a brain issue.  This was a small company of mostly male engineers.  So, we were hesitant to share too much at this point with his company.  We learned later that the doctor was very forthcoming in the paperwork about dementia.  The HR department wanted information from a specialist before sharing with the management staff.   An attorney offered to speak to me pro-bono and advised we wait until we have a final diagnosis before sharing any more with the company.  He also suggested getting a copy of the FMLA paperwork from the general practitioner.  Done.

I dusted off our legal paperwork.  Eight years ago we created trusts and power of attorney documents.  Our decisions made sense eight years ago, I was not so sure anymore.  Added an elder care attorney appointment to my to-do list.

Ironically, during this window of time, my husband attended a brown bag seminar on sugar.  The emphasis was on how it can impact the brain, ability to focus, and overall health.  He realized how much sugar he was eating a day (handfuls of candy, BBQ sauce on almost everything, donuts galore, and so much more).  My husband decided to cut out sugar cold turkey.  Within a few days, he started feeling much better and was able to sit and focus at work for an hour at a time.  This was remarkable.  Symptomatically, I noticed improvements at home as well.  In his mind, he was cured.

In Nov 2016, we had our first neuropsychology appointment.  It was an intake / assessment appointment.  We talked for a short while with the doctor.  She too insisted that my husband did not have early onset Alzheimer’s.  It was statistically improbable to pass early Alzheimer’s genetically.  She did not give any credence to the sugar reduction and improvements.  She expressed her likely diagnosis to be adult onset ADD (Attention Deficit Disorder) or the classic mid-life crisis.  She asked if we still wanted to proceed with the three hour testing?  Seriously?  Heck yes.  Once again I walked away feeling like the drama mama wife.  I was not believed and my husband was unaware of the depth of his deficiencies.  In the doctor’s defense, my husband had one of the most cognizant string of thoughts I had heard in years about his work with NASA.  It was like when you take your sick child to the doctor and they don’t sniffle, cough, or have a fever even though they could barely move at home.  

Before the neuropsychological testing appointment, the long awaited medical files from TN arrived.  They were nothing short of amazing.  It was 168 pages of doctor and nursing notes.   There was one blood panel report and two CT scans.  The records only covered about two years of treatment but provided vital family history and symptoms.  my husband’s father was 48 – 50 yrs old in the records.  They were mostly handwritten as they were from the late 80’s.  It took an entire weekend to read and absorb the information in the files.  Much of it included medical abbreviations and terms unfamiliar to me.  Thank goodness for Google.  The subtle symptomatic details were stunningly similar to my husband.  One seemingly irrelevant comment in a nursing note would make me think, “Oh crap.  That is my husband.”  Behaviors that just seemed like odd quirks of my husbands suddenly became relevant as they were shared behaviors with his father.  My husband’s father’s disease was further along, but on the current trajectory, it was easy to see my husband at a similar place in due time.

Imagine a puzzle of 300 pieces floating around in your head and suddenly the pieces start falling to the table correctly interlocking with each other.  They didn’t all interconnect yet as I still didn’t have the name of what this was.  It just confirmed that it “was” something.  Two different doctors wrote in the files, “This is a fascinating case and patient.”  They did not know exactly what impacted his father, either.

The files were a treasure trove of information.  It would be too much to include here.  Perhaps, more will be shared in a future post as it is important historical information for my children and other TN family members.  Relevant to this story is that my husband’s dad was initially hospitalized at 48 yrs old for atypical depression and possible dementia.  Much was mentioned about the difficulties he had losing his wife and son through divorce.  It seemed to be the “blame” for his troubles by him and his mother.  The estrangement of the extended family from my husband started making sense.  Since The symptoms began at the time of the divorce, the family likely blamed my mother-in-law for his problems (as a side note – many marriages collapse before a confirmed diagnosis with this disease). There was no information about diabetes.  Ironically, there were several references to him overeating and loving sweets.  Hmmm… another clue!  He also made inappropriate and frequent comments about moonshine and chitlins.  He appeared uncertain of his answers to questions and looked to his mother for help.  Yet, more clues.  Strangely, he couldn’t remember what he ate for breakfast but could count backwards by 7’s from 100 to 44 without a mistake.  Several times he was asked to name objects in the doctor’s office.  Initially, he could name 3 of 3 with some thinking and prompting.  A year later he could not name any of them.  Clue.  Atypical depression was eventually ruled out.  Antidepressants and antipsychotic medicines did not resolve his symptoms.  After the second hospitalization a year later (age 49), he was diagnosed with AXIS 1 – Atypical organic brain syndrome.  His symptoms were consistent with Alzheimer’s.  Thank goodness for an incredibly intuitive neuropsychologist at Vanderbilt, Dr. Jonathan May.  He included in his report, “exhibited severely impaired judgment and lack of awareness of socially inappropriate behavior. He is incapable of independent living and is incompetent to handle his own funds.”  Dr. May also had the foresight to order a 2nd CT scan.  The 2nd scan revealed “moderate to severe cerebral atrophy, most prominent in the frontal lobe regions and slight asymmetry of the lateral ventricles.”  There had been progression since the previous scan a year earlier.  Additionally, the doctor included information about difficulty with memory and concentration and resistance to maintaining personal hygiene.

It was important to reorganize the records chronologically to understand the progression of the disease over the two year period represented in the files.  When doing so, I discovered an important notation previously overlooked.  My husband’s paternal grandfather died of a heart attack nine days after being admitted to the hospital for violence associated with vascular dementia (mini strokes that impact memory functions often co-existing with other types of dementia like Alzheimer’s or Lewy Bodies).  Wait. Now, we have three generations with possible dementia and there is another sibling that passed at 50.  I suspect she also had a form of genetically passed dementia but no proof, yet.

There was no doubt that the information contained in the medical records would be relevant to my husband’s diagnosis.  I typed up a two page summary of the symptoms and diagnosis’ and delivered it to the neuropsychologist’s office.

Armed with so much information now, I revisited the various causes of dementia found on the Internet.  Pick’s disease was one that I kept returning to.  It is a disease that was originally discovered in the 1890’s but little research had been done on the disease until the last 20 years because of its rarity.  Pick’s Disease has been redefined as FTD (Frontotemporal Dementia impacting the frontal and temporal lobes).  Additionally, there are several variations of FTD with some overlapping but also unique symptoms.  Over time the variations tend to blur as the disease progresses.  There is typically atrophy (shrinkage) of the frontal and temporal lobes over time.  The pieces of the puzzle were finally interlocking.

In early December 2016, my husband participated in three hours of testing at the neuropsychologist office.  A psychometrist administered the tests.  Each test was designed to evaluate different parts of the brain and its overall function in terms of short-term and long-term memory, attention deficits, and language comprehension.  I did not attend the testing sessions.  Out of curiosity, I asked my husband how they went.  He thought many of them went spectacularly well.  He was surprised though at his struggle naming objects from various photographs.  The pictures were mostly obscure things (in his opinion) but his lack of success was still shocking to him.  He could only name the first few and even with prompting couldn’t name the rest.  On another test, a short paragraph or story was read to my husband.  He was then asked questions about the story.  Nope.  Couldn’t do that one well either.  Tests involving numbers or shapes.  No problem.

The object naming test was interesting to me since I had read about his dad’s struggle with naming 3 objects in the doctor’s office.  More research.  There is a test commonly used to identify language disturbances associated with dementia called the Boston Naming Test.  After some digging, I found the actual objects used in the test.  Hmmm.  Beaver, igloo, escalator, pyramid.  Whoa.  My husband’s inability to find items in stores started making sense.  He didn’t even know what the items looked like.  Language problems are associated with one of the FTD variations.  More puzzle pieces connected.

Our appointment to review the results was scheduled for December 23, 2016.  Yep – two days before Christmas.

Our anxiety was sky high for this appointment.  I had shared with a few friends and family members that I thought my husband had FTD.  The symptoms mostly aligned.  The neuropsychologist’s findings would either confirm my suspicions or send us on another rabbit hunt.  After a few pleasantries, the doctor just dropped the bomb.  “I think you have Pick’s disease.”  She went over the more troubling results of the test.  She told my husband that he scored equivalent to an intellectually impaired 70 year old on the Boston Naming test.  He scored a 48.  Anything below a 69 is considered severely impaired.  WMS IV Auditory Memory.  Severely Impaired.  Animal Naming and COWAT (word associations) both low average.  There were other superior and above average scores as well.  My husband’s jaw nearly hit the table.  He had no understanding of his own impairments.  We spent the rest of the appointment focusing on quality of life and going on short-term disability.  Feeling a bit of frustration at how I was initially perceived by the doctor, I asked specifically if she was surprised by the results.  She admitted yes.  It was my wink to her that the caretakers should be believed and valued.

Taking the quality of life conversation to heart, we had one of the best Christmas’ of our marriage.  The news was devastating but a relief at the same time to have a name for my husband’s symptoms.

A few days later the neuropsychologist report arrived by email.  Strangely, she mentioned FTD in the report but also several other potential causes for his problems.  Huh?  No other possibilities were discussed in our appointment.  In one part of the report, the doctor stated that hypercalcemia was the most likely cause of his dementia.  My husband had a parathyroid gland removed in 2011.  When parathyroid glands go rogue, they start overproducing calcium.  My husband did have elevated calcium for a short time until the gland was removed.  It was never elevated again.  Apparently, having elevated calcium for a period of time can result in dementia.  I immediately emailed the doctor back to question this, and she replied that she felt certain my husband had FTD, but it was her responsibility to include any other possibility.  The report did not read with the same level of confidence as her email.  We were again left with uncertainty.  

It was time to share the news with my husband’s mother.  We pulled my mother-in-law outside to talk.  With absolutely no warm-up, my husband said, “Bottom line mom, we think I have what my dad had.”  Her first comment back was, “but I thought Alzheimer’s was ruled out a while ago.”  I then took over the conversation and explained the symptoms and many of the steps we had already taken to get a diagnosis of Pick’s Disease (or FTD).  She was clearly shaken and grasping for any other explanation. We had none.  

We saw the neurologist a week later in early Jan 2017.

The neurologist did a thorough assessment of my husband. At one point he turned to me and said, “I am going to ask your wife some questions because sometimes spouses see things that the patients do not.”  Yes!  He got it.  My husband acted super silly in the appointment.  It seems anxious events tend to exaggerate the immature behaviors.  In this instance, it was welcomed.  The doctor could see first hand some of the symptoms I was reporting.  He asked my husband if he had picked up any new hobbies in the last few years.  My husband was more than excited to talk about entering sweepstakes.  He asked if my husband constantly checked things around the house.  “Yes, I check the garage door and front door all the time to make sure they are closed and locked.”  The neurologist mentioned taking another look at the MRI.  He stated that many times the radiologists do not see things unless they are pointed in the right direction.  My suspicions confirmed.  The neurologist returned and mentioned a possible spot on my husband’s left temporal lobe.  Deep breaths.

The neurologist ordered three different tests – a large blood panel to test for items not already tested for in November, an EEG of the brain to measure the electrical and seizure activity of the brain, and a DNA blood test specifically designed to look for genetic mutations found in some FTD cases.  The first two were easy and accomplished within days of the appointment.  They came back normal.  The genetic test was a nightmare.

We learned the genetic test cost $3,200.  Wow.  That is a lot of money but a confirmed gene mutation would be the closest we could get to a definitive diagnosis.  It would pave the way for future long-term disability claims and provide information that may prove useful for my children down the road.  After several attempts to get pre authorization and agreement to cover the test, the insurance company rejected our requests.  It was exactly two months to the day from our doctor’s appointment in January when the required blood was finally drawn and shipped to the specialty lab in MA.  Ugh!  

It was time to talk to our three boys about their father’s illness.  This was uncharted territory for me so I consulted with a counselor who was familiar with our family.  My husband was not ready to share but there were too many telephone calls and whispered conversations occurring.  In general, we kept the conversation vague. While Google had been my friend through this process, I was not ready to give them the name of the disease to research.  The diagnosis was not confirmed, yet. In follow on conversations with the two oldest boys, I shared that with this disease there are behaviors that are impacting their father. Unlike Alzheimer’s, the behavior symptoms typically come before the memory ones. I asked each of them if they had noticed silly behaviors? Both replied no. What? Surely, they had noticed these things. Nope. This is their father and being silly was just him. Small blessings I suppose. As the information sunk in, my oldest asked me, “So, when dad was leaping over my friends and me at the soccer field, do you think that was part of the disease?” “Yes – exactly.” He was starting to understand.

Daily phone calls were exchanged between my twin sister and me. She was my rock. Her husband was skeptical about my concerns and findings from the beginning. He just didn’t “see” it. More family. More denial.

My husband’s uncle (the neurologist) had a hard time accepting his potential diagnosis as well.  He suggested several times that it was an autoimmune problem or an issue with his endocrine system.  While, there is no doubt that he is a smart, caring family member, his suggestions provided false hope in my husband and mother-in-law.  Although not intentional, it also discounted my concerns and efforts over the last five years.

The website for the specialized lab in MA states that it takes 21 to 28 days for the results of the FTD Evaluation test.  At the 31 day mark, I contacted the lab.  It was a Friday, and I just couldn’t wait another weekend wondering.

Positive.  Gene mutation found in the MAPT gene.  Information on the Internet states that gene mutations are only found in this test 10% of the time.  One was found.  FTD is rare.  One stat said 65,000 cases worldwide (another 350,000).  Only 40% of those are genetically passed.  The gene mutation is found in only 20% of those.  This is not the most common mutation for FTD.  One study in Europe found this gene mutation to be 1 in a million people.  The neurologist in a mid-size city only has one other confirmed case in his practice.  Whoa.  This is mind boggling.  My research has only just begun but there are over 40 different mutations of this one gene. We have the mutation code.  All I’ve been able to decipher so far is that this gene mutation usually causes FTD with Parkinsonism symptoms. This was a surprise. In all my research of the variations of FTD, I had glossed over Parkinsonism. It didn’t seem to fit.  Now, the muscle twitches and equilibrium issues were more relevant.  

So, what is FTD? Not one person I’ve spoken to outside the medical field has heard of this disease. In its most simplistic terms, my husband’s brain is disintegrating. It has started in the left lobe and will eventually move to his right and frontal lobes. There have already been signs of poor judgment and those will only become more pronounced. Based on others experiences, the poor judgment will likely include the loss of money. His sweepstakes hobby is a concern. It takes some sleuthing to decipher the legit contests from the scams. My husband has always been very forthcoming with me, but I’ve started seeing signs of him either forgetting to tell me about large expenditures or keeping them from me intentionally.  He’s always been a bit gullible and could be preyed upon easily.

This disease can manifest itself initially in either the right or left lobe. There was a fascinating study done about the behavior differences depending on which lobe is impacted first. The right lobe symptoms aligned almost exactly with my husband’s father. One stunning revelation was that the right lobe impairments can cause people to experience hyper-religiosity.  It is an intense concern with religion or worship. There were several notes in the medical files about my husband’s father being obsessive about what church to attend. Fascinating. Sadly, impacts to the right lobe typically manifest themselves in mean and aggressive behaviors and are typically misdiagnosed as mental illness, initially.  The left lobe on the other hand, tend to make immature and silly behaviors more pronounced. My husband is impacted in the left lobe.  Again, small blessings.

So, where are we now that we have a confirmed diagnosis?  I am not sure at this point. My husband is still very high functioning. He drives. He works.  He socializes. Some may not realize there is anything wrong at all.  I see lots of symptoms all the time, but I am also hypersensitive to them.  It is difficult to tell, though, what are just personality quirks vs. true symptoms of the disease.  I’ve been surprised more than once when a behavior was reclassified from a quirk to a symptom.  It happens slowly.  One day you wake up and realize that you are no longer married to the quiet nerd.  Your husband is now the class clown.  Acceptance and tolerance are constant dialogues within myself.

My husband requires lots of quality sleep. An interruption to his sleep makes the symptoms much more pronounced. The neuropsychologist told him never to drink another drop of alcohol. Before her suggestion, he drank a beer and had a piece of pie at lunch. As late as 7 pm that night, his judgment was still significantly impaired.  It is not clear how my husband is performing at work.  He received his worst yearly review ever a few months ago in Jan 2017.  The neuropsychologist commented that it is a good thing my husband is a nice guy (he really is), because, otherwise, he would have most likely been fired a while ago.  Most FTD patients lose their jobs before a diagnosis because behavior changes are much more difficult for our culture to understand, question, and tolerate.

There are stats online as far as longevity after diagnosis (5 – 8 yrs), but I wonder if our diagnosis is earlier than others because of the family history and diligence to find answers?  We do not know.  The future will likely include time in a nursing home. How fast this disease will progress is unknown.  My husband’s father started having symptoms at 40 and lived to 55.  He became mute at the end.  Research says that longevity can vary within the same family.  So much uncertainty.  When we travel to Vanderbilt in June (in two months) to meet with a neurology team more familiar with FTD, we may learn more.  

As I wrap up this bloated journal entry, you may be saying – wow – she doesn’t seem very emotional about all of this. Wrong. I’ve cried myself to sleep more times than I can count.  I’ve woken up with tears streaming down my face.  The emotions hit strongest when I get a glimpse of our future. A phone call came from a friend the other day about my husband wandering along a busy road. When questioned, he made it sound rather innocent but most adults do not walk next to a major road to check out stores they have never noticed before while getting an oil change. I lost it. It is very challenging to keep my mortification in check, too. My husband goes to pick up pizza and asks the employees if they have any extras. He comes home with 3 extra pizzas. He sees nothing wrong with this. This behavior is being modeled for my kids. He takes the youngest out to stores in his pjs and no shoes.  It is a constant battle to make sure the kids understand that these things are not socially appropriate – yet, daddy is doing it.

The decisions, oh the decisions. I have said numerous times that I need a council of family and friends to meet and make our decisions.  There are just too many.  Moving away from our incredible neighbors is overwhelming. Yet, at some point our stairs will become an issue. Should we sell our house to become mortgage free and reduce our monthly expenses? I do not know. We still have three kids to get through high school and college.  At what point will it be unsafe for my husband to drive? How will he take that? More importantly, when will he have to leave his job?  What mental health issues will that trigger?  What will we do about health insurance? Can I get another job with more hours and health insurance or will my husband need me to be his caretaker?  When will the aggressive behaviors become more pronounced as this disease moves to his right lobe?  There are already signs of aggression towards the kids.  How long, how long, how long? How can I be all things to all people – my husband is becoming my child. He needs as much guidance and support as they do. I am his memory.  I am his judgment.  I am his emotional support.  I am the glue that will hold this family together.  FTD stinks.