DONATETHE STRENGTH OF MOM PAOLA
We are learning about Lafora Disease through the stories of girls like Martina and Carola who live with it every day. Unfortunately, there are also girls who have faced this disease, fought against it, and were only freed when their bodies (which were no longer truly theirs) decided to give up.
Daniela‘s story began in her first year of middle school when she started experiencing dizziness and dropping things without any apparent reason. The pediatrician advised the family to consult a neurologist, who concluded that it was a normal consequence of growth. However, there was something strange, and Mom Paola knew it in her heart. Daniela was not doing well in school, to the point of being held back in third grade. She couldn’t remember the names of her favorite singers, and those eyes that sometimes “rolled up” were worrying. They returned to the neurologist, the same one who had examined her before, and this time the diagnosis was clear and unpleasant: juvenile myoclonic epilepsy.
Mom, why am I different?
By 2009, after three years, Daniela was in high school and was facing life with increasing slowness, both in movement and learning, until one day, while at home alone with her siblings, she had her first epileptic seizure. It was just the beginning. The doctors had said it was inevitable. Life continued, time passed, and in August of that year, Daniela had a major seizure with devastating consequences for her and those around her. One day, she woke up and couldn’t go to the bathroom without her father’s help, she couldn’t walk, and she couldn’t remember where her bathroom was.
Mom, why can’t I dance anymore?
The disease was taking over Daniela’s life. Then came the definitive diagnosis: Lafora. Naming it, giving a title to this story where a happy ending seemed unlikely, plunged Mom Paola and the entire family into a parallel universe they never wanted to explore. From that day on, everything was different because time was slipping away, taking pieces of their Daniela with it. It was difficult to find people who could stand by her, and it became increasingly challenging to stay by her side as her dependence on others grew.
Mom, why doesn’t anyone want me anymore?
Fortunately, after some initial justified fear, Daniela’s friends proved their loyalty and stayed by her side day after day, even during the toughest moments.
I can not handle it anymore
“I can’t take it anymore,” Daniela said between seizures. These words were as heavy as boulders, bearing witness to an unjust and overwhelming pain for a 16-year-old girl. Time passed quickly, too quickly, until Daniela lost all cognitive functions, couldn’t eat on her own, couldn’t speak, couldn’t walk, and finally, on April 23, 2014, she was freed from the cocoon that held her tight and spread her wings, flying away from all the pain.
Our thoughts go out to Daniela’s mother, Paola, who shared this story with us. Her strength and determination to keep fighting, even after losing her daughter, are remarkable.
Her unwavering support for A.I.L.A. and her fight for research into a cure for the surviving children are invaluable contributions to TempoZero.
Thank you, Paola.
Dear Daniela,
One day… Do you remember… You had just started middle school… You told me that sometimes you felt dizzy… So, we went to the pediatrician… He sent us… To a neurologist… Who told us not to worry… That it was surely just part of growing up… And that even if you were having problems at school, it was nothing… And to stay calm… Do you remember, Daniela… How you struggled at school?… But it wasn’t a big surprise to us because you never really liked going to school… So we didn’t make too much of it… The only thing that bothered me was that the teachers… said, “Your daughter is certainly not like your other children… Your other children have no problems… And despite going for extra lessons almost every day on all subjects… You still struggled…” And I began to have doubts… Then everything continued for some time, and you occasionally said you felt dizzy… And you felt a bit strange… I kept an eye on you… I had noticed that your eyes sometimes rolled upwards… But I thought it was a tic… But then it continued for a while… In the meantime, you had become very aggressive… Then one day… While we were at the table… You were sitting in front of me… Do you remember!… Your arms fell down with the fork… And I… asked you what had happened… And you… “Mom, it’s the same thing I always tell you… My head is spinning…” And even here… I let it go… But I kept watching you… And that eye-rolling continued… So one day… I don’t know why… Instinctively, I asked you, “Dany… What are you doing with your eyes?” And you, once again, told me, “Mom, it’s the same thing I always tell you…” So we went to the pediatrician, and he recommended an electroencephalogram…
The same day you had it done… The neurologist called me at home… To ask if there were any family cases… And I said no… But I would find out… Anyway… At this point, it was October 2006… And you were 13 years old… Do you remember we went to the neurologist… The same one who had seen you years before… He even apologized for not investigating better back then… Anyway, you had a record where you had 10 absences in 10 minutes… Now we understood why you couldn’t grasp anything at school… And so you started taking anti-epileptics… But after a month of treatment… You started having jerks… In your forearms… We thought the medicines were making you worse… Meanwhile, you failed third grade…
You repeated the year… But you still couldn’t memorize… And even in your second year of third grade… You passed only because they helped you and knew what you had… During this second year of third grade, you became aggressive… And wanted to see a psychologist… And still, the medicines didn’t seem to help you, in fact, I was more convinced that the treatments were making you worse… So I started taking you to other doctors to confirm the diagnosis… Infantile myoclonic epilepsy… But in my mind, dear Daniela, I kept thinking of the words of the doctor from the ASL… The one who gave the exemption… “Signora, with this document, you can go anywhere in Italy… And remember that there are also rare diseases…” Those words echoed like thunder in my mind… And every day, they became more prominent in me… Now you were in high school… Do you remember how happy you were?… With your choice? Tourism… And with the German language that you loved… Do you remember, my little mole?… But you were getting slower and slower… In the morning… You took a long time to get ready… Do you remember how many times I got mad… And then there was your sister who I also had to take to school… And she got mad because she said, “I have to go to high school, not like you who go to a vocational school and if you’re late, they don’t say anything…” Do you remember?… And then the boys… You always only had male friends… You were the earthquake… Full of life… The joy… The sunshine of the house… You, my sweet little mole… Do you remember how I called you when you were little…
Let’s continue to May 2009… And your first seizure… Your father and I were not at home… You were at home… With your brother and sisters, who were all grown up by then… And you were with your boyfriend… Your brother called us… To tell us that you felt sick and they had taken you to the hospital… The first seizure… The fall and your slightly bruised nose… But the doctors said it was inevitable and wondered how you hadn’t had them before… Okay, Daniela, let’s continue… Since then, you had another 4 or 5 generalized epileptic seizures… Then came the unforgettable day… August 15, 2009… Do you remember we were in Benevento on vacation with friends… You had a huge seizure there… Then, when we returned home… You were not feeling well… On the morning of the 18th, you woke up… And couldn’t walk… You didn’t remember where the bathroom was… Your father had to help you under the arms… And take you there… But then we took you immediately to the hospital, Meyer… They did all the necessary checks… You didn’t do well in the cognitive test… You couldn’t remember much from before August or after… You forgot many things… Ahh, I forgot that some time ago you had already told me that you couldn’t remember the names of some singers anymore… And you had stopped going to school because you were sick most of the time… Anyway, back to the hospital… After ten days of tests… The head of neurology called your father and me and told us… That your disease was progressive… And would only get worse… I don’t know what I felt at that moment… It didn’t seem possible… Then I went outside and cried, called a friend, and told her everything… But they still didn’t know exactly what it was… In September, they sent us to Besta for another test… Which they didn’t do because the genetic test revealed that you had a disease called “Lafora.” It is part of the group of progressive myoclonic epilepsies, a very rare and disabling genetic degenerative disease, affecting both motor and intellectual functions. The cause is an accumulation of abnormal sugar (Lafora bodies) within brain cells and other tissues (liver, skin, heart, etc.), leading to cell death… The disease manifests in late childhood and adolescence (10/18 years), characterized by convulsions and myoclonic spasms… Its progression leads to the patient’s complete dependence…
The return from Milan, my dear, was very painful… I couldn’t believe it… Do you remember… How terrible that word “remember” is… And a different life began for all of us… From August 18th onward, you needed constant help… For everything… On the 17th, you were healthy… On the 18th, you depended on us…
The disease progressed slowly… I fought with all my might for you to have someone come visit you at home… Because you were left alone… I knocked on many doors, but no one answered my cry… For the first year of the disease… You were alone… Then finally, you were given home educators… Who were like “friends” to you… They took you out in the car… You love going out in the car… Seeing open spaces… Ahhhh, by the way… Do you remember… In September 2011… Where we spent a week… At Dynamo Camp… A dream place… You felt normal there… You went climbing… Rode a horse… You were surrounded by young people who gave you an amazing week… Dear Daniela… Then… Something happened with your friends… They reconnected with you… And they come to see you twice a week… When you were better, you went out in the car with them… Or they came home and made sweets with you… And you were so happy… Since you got sick… Three years and a few months have passed… And now, since the beginning of 2012, things have gotten worse… Until the evolution… Between August and October… So many seizures, my love, you had no respite… I saw you there with all the pain you were feeling… Sometimes, I was paralyzed… Almost unable to react… Or I felt like vomiting, seeing you suffer so much… In those hours of convulsive seizures between one and the other, you said… “I can’t take it anymore”… And my heart was torn apart…
Dear Daniela… Life hasn’t given you anything beautiful… You, who were a volcano… My lovely child… Fabulous… With energy that could move mountains… You told me, “Mom, when you are old, I will take care of you”… You said, “Mom, I love you and hate you”… And how many hugs between us… You wanted children… You wanted to learn German… To be a cook… None of that you could do… Your dreams are trapped in your body, which is like a prison… And then your questions…
Mom, why am I different?
Mom, why can’t I dance anymore?
Mom, why does nobody want me anymore?
Why can’t I write?
Mom, am I ugly?
Mom, when will they find a cure for me?
Mom, why am I like this?
Mom, why can’t I wear heels anymore?
Mom, I want to die…
Mom, I can’t take it anymore
Mom, I’m tired
Mom, I want to go to Carlotta (a friend of hers who died at 15 from cancer)
Mom, why can’t I go back to school… Mom, why
Your whys from when you could still talk…
Now your whys are locked in your eyes…
Mom is the name you can still say along with Dad…
Because now your questions are silent… All hidden in your gaze…
So you call me mom?… And then your silence… And I tell you, Dany, it’s okay… And I smile in front of you… But inside, everything is falling apart…
Dear Daniela… This is not the life I wanted for you…
But the only hope that helps us bear all this is… That the doctor researching can finally find a cure for this disease… Certainly, at the beginning, the hope was stronger… Now it’s harder to believe that the cure will come in time for you, but we hope… I want to hope… And maybe one day not too far away… I’ll see you again… Daniela… With all the energy… That you have and still possess even now… Despite everything… I love you so much, my little one… I hug you and hope… Indeed, we hope that the unexpected happens… A dream I don’t want to give up…
Your mom, Paola
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