How Family History Helped Confirm FTD

Beth is a caregiver to her husband, who is living with FTD. In her spare time, she enjoys hiking, yoga and spending time with her family and friends. She and her husband still enjoy walks together along the trails near their home.

“Your husband has frontotemporal dementia caused by a mutation in the progranulin gene. This is the reason for the symptoms that he has been experiencing for the last two years, and was likely the cause of his mother’s early onset dementia, too.” 

I sat still, eyes locked on the neurologist, as he added: “Your children and his siblings have a 50% chance of having the mutation too.” 

I had tears streaming down my face while my husband remained quiet and completely emotionless. Truthfully, there isn’t much more I recall about that day beyond the profound despair, eased only by some degree of relief now that we finally had an answer: a diagnosis that came exactly one year after seeking medical help. I understand now that this is much faster than the average three-and-a-half years it takes most families to obtain an FTD diagnosis, but it did not have to happen this way. I will explain.

Five years ago, my husband started experiencing personality changes. He became more agitated, compulsive and seemed to be struggling with obsessions and paranoia. He was less interested in interacting with family members — even choosing to stay out of the room when we’d have family or friends over for dinner or extended stays. When he would choose to interact, he was likely to start arguments and create an unpleasant atmosphere for everyone. I thought something was very wrong, but I wasn’t sure what it could be. I considered divorce, because life was so difficult being around him. His family, also at a loss, thought he might be depressed, narcissistic or have bipolar disorder. We had many family conversations and did lots of research trying to determine what could be causing him to be so difficult. 

After a few months, he began forgetting things. He’d leave his credit card at a restaurant or his wallet at the office. He would miss appointments and forget conversations. His mother died from an early onset dementia at the age of 64, and my concern grew that this could be some form of neurodegenerative disease. He agreed to seek help. 

At the first appointment with a neurologist, I explained the family history and my concerns. After a cognitive screening, we were told my husband had “mild cognitive impairment” based on a screening done in the office. There was no explanation as to why he would be suffering from this, nor was any connection made to his mother’s history, but the neurologist suggested an MRI as the next step. 

That test came back within normal range, and the doctor sent us home with a recommendation to see a therapist to manage anxiety, try meditation to cope with obsessions, and follow up with him in six months. This seemed so crazy to me at the time, especially given the family history. Even though his mother died from an unknown dementia, the neurologist assured us that most dementia is not familial. 

The next year brought painful decline, more phone calls, more appointments, and more testing: EEG, PET scan, neuropsychological test, lumbar puncture. Finally, after consulting with a second neurologist, this doctor suggested we go through genetic counseling and testing. Once it was determined that he carried a progranulin mutation, it finally brought us the answer we needed: a definitive diagnosis of FTD. 

We were devastated to learn about his diagnosis. But I realized quickly that we had a lever to pull in the form of available clinical trials for his mutation. We set up appointments with the various trial coordinators, and ultimately decided to move forward with one of them. 

I don’t know if our participation in the trial will change the trajectory of his disease, but I’m grateful we have the chance to try. My only regret is that we didn’t get a diagnosis sooner so that we could have participated earlier, potentially slowing or stopping decline. 

My advice to you:

• If you have a loved one who is experiencing behavior changes, language difficulties, or movement issues, read about frontotemporal dementia and educate yourself on the broad spectrum of symptoms this disease can cause. Not all dementia is Alzheimer’s disease.
• If you suspect your loved one has FTD, bring genetics into the conversation with the doctor. Consider genetic counseling and testing.
• Advocate for your loved one with urgency. Time is of the essence in neurological disease. Early intervention in clinical trials is thought to have the most promise for best outcomes.

I hope a quicker route to diagnosis through genetic counseling and testing comes for other families facing FTD.