“I am Giovanna Monda, an Italian citizen living in Lanzarote, Spain. I am the mother of three beautiful children: Christian, Tracy, and Carmen. We were a happy and very united family until a damned, ultra-rare, and deadly disease affected our children.
It all started in the winter of 2019.
Then, I was self-employed, working 15 hours a day, and spending few hours with my family. My oldest, Christian, was a young, healthy, and strong boy. He had light-colored eyes and a smile that made you fall at his feet. Christian’s school performance became increasingly poor and his professors told me that he often fell asleep in class. He also started behaving oddly at home, telling me he had problems. We thought about the self-esteem issues of young people nowadays and that it was the beginning of a turbulent adolescence.
Because of COVID-19, I stopped for a few days and tried helping Christian with his schoolwork. So, we began studying together and he was furious. I remember he said to me: “Mom you don’t understand, I’m dyslexic, the letters disappear (focal seizures).” At the time I didn’t know what to think, since no doctor had ever diagnosed him. As the days went by, the first symptoms of Lafora began to appear. Things fell out of his hands and he was slow in everything. Christian’s mood could change instantly, and his arms would jump up without control (muscle spasms). At this point, we realized that he had some neurological disorder, and we immediately contacted the first neurologist.
His first diagnosis was Juvenile Myoclonic Epilepsy.
The doctor told us that he would have had a normal life with proper medications. They said that around the age of 40, his epilepsy would disappear. We were not at all convinced of the diagnosis, because Christian was getting worse day by day. He was suddenly falling and immediately getting up, having moments of complete absence, and sleeping a lot.
In January 2020, after various tests, specialist visits all over Spain, wrong diagnoses, and ineffective treatments, the final diagnosis came. It was Lafora progressive myoclonic epilepsy, one of the most severe forms of epilepsy known. We learned that Lafora is caused by a genetic mutation that appears in children between 10 and 18 years old. Once the first symptoms begin, patients generally die within 10 years. The disease is characterized by polyglucosan deposits (Lafora bodies) in the brain, liver, muscles, and sweat glands. As time goes by, the symptoms include degraded school performance, muscle spasms, inexplicable falls, sudden absences, convulsions, cognitive deterioration, and difficulty in walking, swallowing, and talking, until patients are bedridden and die. From the beginning, Lafora patients need the care of their family 24/7.
In October 2020, Christian began to have his first seizures, each time more severe.
We were in and out of the ER because of various traumas derived from sudden falls caused by seizures. Lafora disease devastates the family and the whole circle of friendships. Christian’s friends began to keep a distance from him. My son complained that he felt lonely. In June 2021, we hired a caregiver, telling Christian that he was his new “friend.” Thanks to him, my son was happier and peaceful and had no seizures during the entire month. We learned that Lafora patients should live the quietest life possible because any strong emotion can cause convulsions.
I remember that on 3, July 2021, at 5:00 a.m., Christian could not fall asleep. He told me he couldn’t control his anger and that he wanted to escape. At that time he was not walking by himself anymore. So, we called an ambulance, and he was hospitalized. Christian was tied to the bed for 20 days and said, “Mom, they keep me imprisoned.” He was a danger both for himself (one day he jumped off the hospital bed, broke a tooth, and injured his face), and for others who took care of him. He beat anyone who got close to him, even me, sometimes. After having stabilized his mood, when he seemed to be better, he had absence seizures and new convulsions. Christian could no longer swallow, so to be able to feed him and give him all the drugs to keep him alive and hope for an improvement, he was subjected to surgery for the implantation of a gastric tube. His wish was to go home; that’s also the reason why we agreed to have him undergo surgery.
Unfortunately, it didn’t prove to be useful.
Christian suffered complications during the surgery and even convulsions. Every time we fed him through the tube, he cried, and I told him so many lies… That he would recover, that they would cure him soon, that treatment was about to be released, etc… It was torturous; seeing him suffer made my heart shatter into a thousand pieces. After a few days, he got even worse. Christian was having convulsions all the time he was awake, with thirty seconds of pause between each of them. He had a fever at 42°C and he was getting his trachea suctioned every ten minutes due to regurgitation from his crisis. Christian was no longer reacting to any stimulus, he had a fixed gaze, and he was totally absent. You could only see tears falling off his sweet face. Christian just wanted to go and stop suffering so damn much. Above all, it was unbearable to see him suffer like this.
We decided, together with his doctors, to let him go. They tried to put him to sleep with high doses of sedatives, but by that time he had become drug-resistant. They gave him total anesthesia. He fell asleep and the doctors took all his medications off. Christian’s soul ascended to the sky on August 12, 2021, at the young age of 17 years old. It was horrible.
We were almost able to mourn Christian’s death until March 2022 arrived. Damned March 2022.
Tracy, 13 years old then, is our second child. She has a heart of gold and is always ready to help others. Tracy was cheery and in love with life and her friends. My husband and I call her “hurricane.” We were preparing breakfast together and suddenly her arms raised to the sky without control. She looked at me, crying, and told me: “Mom, I don’t want to die, too.”
We waited a few days because we didn’t want to believe we were about to relive it all again. Then, we got a from her basketball coach saying that during training, Tracy had had her first seizure.
I couldn’t breathe; thinking it was impossible. Not again, no. We were shocked, to say the least. I can’t explain it. We knew that there could be a possibility that our other children could also be affected, but it was absurd to us. If it had already been devastating losing a child in the circumstances in which we lost Christian, having to face it once again with Tracy, without even having had time to recover from the first loss, was something hardly humanly bearable.
Unfortunately, after being tested, the diagnosis was once again terrifying: Lafora disease.
And then there’s the little girl of the house, Carmen, who was 12 years old then. I say “little” just because, in reality, she is a gorgeous girl of five feet and seven who dreams of being a model, but also a surgeon. She’s super sporty, with very good grades and two big green eyes that can charm you in an instant.
In June 2022, Carmen was taking a shower, and we heard a loud crash followed by repetitive noises. I already understood what was happening and I rushed into the bathroom. No, no, no. She was convulsing. We called an ambulance. They immediately admitted her to perform specific tests and once again the diagnosis was clear and dramatic: Lafora. We died for the third time. I never expected this for her, too. Carmen was doing very well in school. She had no symptoms that made you think she was sick like her siblings.
These girls are innocent; they have done nothing wrong.
They have already experienced indescribable suffering with what happened to their brother. Now, they have entered the nightmare of Lafora too, which leaves no escape. All of this affects their state of mind, especially now that they are aware of their disease. We cannot lie to them. Tracy and Carmen saw Christian die every day, little by little. There was no possibility to keep them in the dark. Now, their fear of myoclonus and seizures prevents them from going to school, doing sports, going out with friends, and therefore living their adolescence.
Unfortunately, the disease progression is incompatible with the technical times that the Spanish institutions can currently offer to support people. Luckily, my husband’s parents live with us for 8-10 months a year. They also help us as much as they can, given their age and health condition, which does not allow them to be alone with the girls, because, in the event of a seizure, they would not have the physical strength to help them.
Tracy is currently getting worse every day.
She has more and more seizures and muscle spasms. She is very slow in everything (this is also due to the drugs), she can never be left alone, and she constantly needs our help. Tracy cries a lot and is battling with depression. She takes 14 pills a day and we’re only at the beginning. The day will come when no drug works anymore because Lafora patients become drug-resistant.
To date, Carmen has had about one seizure per month, small muscle spasms, and she takes 8 tablets a day. Both my girls have problems reading (visual crisis). Linked to this symptom, they also have short-term memory loss. For example, they read a word and forget the previous one they just read. This symptom slowly affects their daily life.
Children fighting Lafora disease need motor, pedagogical, and emotional therapies, etc. They need home assistance. They need to interact with other people who are not family.
Tracy, for example, has been living exclusively inside the house between the sofa and her bed for months now, which makes her always think about illness. We do everything possible to distract her and make her feel good. But which teenager wants to be with their parents 24/7? In July 2022, I shut down my cleaning company to dedicate all of myself and my time to my daughters. My husband has been home on sick leave for months to help me. We are taking antidepressants, too, because it is not easy to deal with all of this.
We are exhausted and we know this is just the beginning. Tracy and Carmen are being treated by Doctor José María Serratosa, a neurologist in the epilepsy department at the Hospital Universitario Fundación Jiménez Díaz in Madrid. There would be an experimental cure, but there are no funds to carry out the trial. Because Lafora is such a rare disease, big pharmaceuticals are not interested in investing in research. The drug from the pharmaceutical company “Ionis” is blocked because the company asks for 10 million dollars to start the phase 1 clinical trial.
You cannot put an economic value on your children; it is an injustice.
Meanwhile, tests are being performed with other drugs, with a very low probability of success, to try to slow down the disease, at least, and give patients more time in the hope that a cure will be found. Sadly, innocent young people have died every week. All we have is hope.
Until Christian got sick, we enjoyed good economic stability, the fruit of our hard work. Then, it’s been a tragedy. We spent all our savings trying to save our beloved son and now we have to ask for help. We organized a fundraiser to support our family and do something on a whim for the girls. Thanks to the province, we managed to obtain a few thousand euros, but we’ve spent them all already. Now, our main problem is being able to follow the girls without worrying about how to get to the end of the month, which is not easy, since as everyone knows, we can’t get back to work.
We need two things with priority. First, company for Tracy (Carmen is doing quite well now, she is still independent and she’s also “in a relationship”). Second, financial aid to support the family and accompany our girls in the best way on this sad journey.
You can find our contact information below:
Giovanna Monda 0034 619140236
Lucio Anastasio 0034 654477634
e-mail: giovicaramella.gc@gmail.com
We thank you from the bottom of our hearts for reading our story.”
DISCLAIMER: Giovanna Monda’s testimony was translated from Italian to English and edited for clarity.
Ionis shared a statement with Chelsea’s Hope for the Lafora community. They have agreed to license the ION283 program to Noventia Pharma, and Noventia will assume responsibility for developing it. 
Chelsea’s Hope, Post Office Box 348626, Sacramento, CA 95834