Elle Pothier: 6 Toes on One Foot
Written by: Elle Pothier
My third and youngest sister Lucy was cool already, right out of the womb. She was born when I was eight, and all four of her older siblings were over-the-moon at the arrival of that cute little sucker. So chunky, and with an extra little pinky just hangin’ out at the end of that row of toes (that we begged my parents to have her keep lol).
(after Lu’s surgery to remove her extra digit, me proudly documenting that bad boy on our camcorder in my gauchos lol)
Lucy was taking a bit to develop (with things like walking and talking) and my parents had been researching and taking her to some doctors. Since she was the youngest, they had all of us to compare her to, and they knew something was different.
She didn’t make eye contact.
She took so long to start smiling.
She had no intention of walking or standing until well after the rest of us had.
Finally, a geneticist came across an extremely rare syndrome called Bardet Bidel Syndrome (BBS) that seemed like it could be a fit. Some of the effects of BBS include insatiable hunger leading to obesity, learning disabilities, extra digits (her toe), and the most heartbreaking: vision loss. Vision loss begins as early as age two, and starts with night blindness which slowly develops into “tunnel vision” as the peripheral vision closes in.
It wasn’t until Lucy was about two years old that we put the pieces together.
I remember the moment well.
I was 10 at the time, so I was not clued in on all the research. We were leaving our grandparents in the hot desert one night. This was a usual Sunday. Going to extended family for games and dessert, then trotting out into dusk with my siblings after having to be peeled away from our cousins.
Our family was loading into the car when my older brother, Max, holding Lucy on his hip, started playing the game you do with toddlers when you ask them to point to different features. “Where are my eyes?” “Where is your belly button?” yada, yada. The night was beginning to settle, but we could all see perfectly well. Max asked Lucy where his nose was and she pointed towards Max’s voice, but nowhere near his nose. Looking into her vibrant blue eyes, you could see the unknown and vastness there. It was almost like she was looking through him.
Little did I know at the time how much this moment would have an impact on my entire family.
Little did I know that this moment of Lucy’s looking “through” my brother took my parent’s breath away. They had looked up all the effects of BBS and this was the final tell-tale sign that yes, Lu had all the symptoms of having this ominous syndrome they had been worrying about.
Once they got the official diagnosis, my parents sat us all down and explained as best as they could to us the things we would be seeing in our youngest sister.
Those words, especially the “blindness” one, broke our hearts.
Even though we knew life wouldn’t change all at once, there was somehow an overall heaviness that whispered to us all that this would be a tough road. And that we would have to pull together to work through it all. We would need all of us on board. And as frightening and unknown as it sounded, there was positivity in my parent’s voices.
Because we had each other.
We had Lucy’s back, and somehow, we knew she would have ours.
We got to work.
We started “Families Fighting Blindness,” our own family charity to raise money for vision research. My parents met with the best doctors they could find who knew about the research going on and what needed to be done next. We started a “Turkey Trot” race at Thanksgiving each year with all the proceeds donated to the BBS family association. Lucy was able to get approved for a clinical trial to help with her obesity and hunger (which has side effects of wicked tanned skin). We fought to make sure that girl knew we loved and adored her with all our hearts.
As Lucy grew up and her vision got worse, she started learning Braille at school, and was “awarded” a white cane to help her adapt as her world got darker around her. We didn’t even have to pretend like it was the “cool thing” to get her to use it. I mean, she could board first on planes, get special privileges at theme parks, so we all embraced that cane. We felt so lucky to have all the support surrounding us as we tried to support others.
Now, all this sounds great.
It sounds strong, uplifting and encouraging.
But to be honest, that little sister of mine does not like being dependent. On anything or anyone.
She gradually started to resent her Braille and started to refuse to use her cane that made her stand out. She started getting sad when anyone would laugh around her, believing they must be laughing at her. I truly don’t blame her, I can see younger kids’ wide eyes glued to her every movement, leaning over to whisper. I can see the discomfort on adults’ faces as they quickly look away. I just want to encircle my sister away from any intrusive thoughts she has and show her how much love we have for her, to combat all that is going on.
But I also feel the frustration when she pours the gallon of milk onto the counter instead of the cup. I encounter the frustration of trying to get somewhere quickly, but walking slowly because she needs help, her hands clutching on my elbow with a vice grip in the “sighted guide” position.
Yes, woe is us, right? We have this sister who is slowing us down. We are sorry for her. She is sorry for herself.
But the truth is that this girl is a mighty darn miracle.
She has helped me become more meaningful and sincere in the actions I take. Even though she is stubborn as all get-out, Lucy knows who she is and is one of the most genuine individuals. She has the most beautiful heart who can read my emotions the second I get upset. She is the type of girl who sobs during Frozen but trash-talks her way through every card game. I am so unbelievably grateful for Lucy and her perspective on the world.
One day, Lucy will realize how incredible she is with her syndrome that makes her ten times the hero and role model. Her syndrome makes her one-of-a-kind and one of my best friends in this world. She brings us together more than we ever could. The glue in our family with her wit and kindness, and creative brain.
I am grateful for my siblings and how much we can work together to overcome the learning disabilities, and emotional struggles right alongside Lucy while becoming best friends with each other through the good and the hard.
I am grateful for the many individuals who have donated and supported and help with Lucy through showing love, hyping her up, and making her feel included when she feels different and alone. I know what this means to Lucy, so I have strived to become aware of the struggles others face around me.
We have realized through the years that all our efforts to help Lucy keep her vision may not work fast enough. Her vision is dwindling SO fast. We have been promised over and over again that they are “on the cusp” of vision restoration. Only to be told the same thing the next year. And the next. But even if all the work and fund raising doesn’t ever help Lucy’s eyes, specifically, it has helped our family in ways we can never really understand. To learn and grow together.
To fight for something that we feel is so valuable.
And hopefully, even if Lucy does lose all her vision, maybe we have planted seeds that will help the next BBS generation. Maybe their lives will be changed because of the research and ripple effects of what we have worked to do. Our efforts are seemingly tiny in the whole scope of things, but little things add up to big things. And isn’t that what life is about?
If we interconnect ourselves enough, we have the power to change the future in such a positive way.
Having a younger sister fight a disease has been and will always be my deepest challenge, but the amount my family has grown together, expanded our minds, learned to turn our frustration into a positive learning experience has blessed my life forever.
