My mother Marion started showing behavioral changes in her late 50s. They progressed relatively quickly, and we really didn’t know the cause. Her father died at age 59, from “hardening of the arteries of the brain”. Three of his five siblings had the same diagnosis, dying in their 60s. My mother was vegetative by her mid to late 60s, but died at age 75. Her autopsy gave a diagnosis of Pick’s disease, and we knew we had a 50% chance of inheriting this horrible disease. It also took 2 of her 5 siblings.
My sister Sharon showed similar bizarre behavioral changes in her early 50s. She was diagnosed at age 58, and died at age 66. She has 4 daughters. I am the youngest of 6 children: My brother is the oldest, and he died of heart disease at age 65 without showing any signs of dementia or erratic behavior. My sister Judy is now in her 80s, so clearly not a carrier. I have 2 other living sisters, one in her late 70s who seems fine, and one who is going to turn 70 next year.
I have 3 children and 2 grandchildren. In late 2019, I decided to get tested. It seemed ridiculous to keep working hard as a Nurse Midwife and saving for retirement if there wasn’t going to be one. Also, my oldest son and his wife and 2 kids had moved to North Carolina, and I was missing them so much. I went to the Penn FTD Center, and joined the ALLFTD study. I had my life insurance in place, and had my blood drawn after counseling.
My genetic counselor had agreed to give me my results by phone, since I lived in central NY. That call changed my life, and it hit me like a landslide. My husband was with me, and when we hung up, I sobbed so hard I couldn’t even stand up. He held me, we cried, and we tried to process this life-changing information. It occurred to me that now my three children, and possibly my grandchildren, might have this gene. I felt diseased, contaminated, and guilty. Within months, we had sold our house, I had retired my career as a Nurse Midwife, and we had moved to North Carolina to be near my family. Telling my children was one of the hardest things I’ve ever done, but they apparently had figured out why I called them all together and made crowns out of toothpicks, “Pick’s Disease”.
I told my sisters, and asked them to send the extended family the information that our family carries the MAPT gene, p.Pro301Leu.
I am about to turn 67. I am still asymptomatic. I feel so grateful for the time I’ve had to spend with family, taking trips with my children and husband, and making memories. Every birthday, every New Year, every anniversary that goes by and my mind is still intact gives me hope. I try to be in the moment and appreciate each day. After the first year of knowing I have the gene, which was a really hard year, I started having some days when I didn’t think about it, then more and more. I continue to monitor myself, and of course my family does as well. But now I’m just living, and the cloud is not hanging over my head anymore. I know it’s very likely to come, but for now I am so incredibly grateful.
By Susan
Sparks of silver in her hair
Cast glints of sunlight everywhere.
Her gaze laid bare my soul to fall
Into its depths; I went, in thrall.
Tumbling forever in a moment’s time,
With mingled fear and sweet sublime.
She held me there, so safe and sure,
In liquid beauty, strong and pure.
I sipped and savored every drop,
Fearful that it soon may stop.
The wisdom of so many years,
The waterfall of many tears
Did fill me with such sweet surprise.
How did I fall into her eyes?
How could this feel so right, like home,
Like I never had to be alone?
In her memories I dwelt,
Touching all the things she’d felt.
I’d never known these things were here,
So far away and yet so near.
Why had I never looked so deep
Into those eyes that made me weep?
I lingered long there, loathe to leave,
Eager not again to grieve.
But when at last I did ascend,
I found my soul had made amend.
I gazed again into her eyes,
But found the old familiar guise.
There were no depths, there was no thrall.
Again there was no one at all.
I wept with joy at having glimpsed
That not seen before, or since.
I wept with aching, longing pain
To see her empty face again.
I cannot know what led me deep
Into her eyes, but I will keep
The shadow of those moments near,
For cracks in time when I feel fear.
The sparks of silver in her hair,
The glints of sunlight everywhere.
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