Sometimes life is random, and at other moments, encounters seem to be destined, don’t they? I think I was destined to meet Emanuela Defranceschi. I met this woman when on the plane from Charlotte, North Carolina to Frankfurt—as we were both on route to Italy. As I was putting my carry-on bag in the compartment above she smiled warmly at me. Within a minute she was making a joke about the fresh blanket, wrapped in plastic, that we received and the “good food” we’d likely have. From that point on, we “tried” to talk the entire flight. Her English is just “okay” and I, clearly, speak no Italian. But somehow we managed to chat just fine.
What amazed me the most about Emanuela, a 42-year-old woman (also a separated mom) with soft brown eyes, and a natural beauty—is that she is filled with positive energy. It was then hard for me to believe at first, that she suffers daily in her struggle to keep her daughter alive. I have met only a few people who have as much courage as Emanuela. This woman travelled from her home in Bologna, Italy, to spread the word about her 11-year-old daughter’s rare disorder: CDKL5. In fact, this genetic disorder, diagnosed in 2004, is so rare, Emanuela created its first online association: the Italian CDKL5 Association to find other children with the disorder and scientists to help. After much research, she learned that the disease shares the closest symptoms with another disorder: Rett Syndrome. For that reason, so she began attending (on a shoe-string budget) Rett Syndrome Congresses around the globe—seeking scientists who could conduct research on CDKL5 and save her daughter, Elena. After losing another child to CDKL5, Emanuela is more determined than ever to find a cure. Her goals, as she explained to me, are to bring scientists together, to raise awareness and charitable funds, provide support for other families with children fighting CDKL5 and to clearly fight for a cure.
As she told me about her daughter’s plight, I was inspired by how strong she is and also how very positive. She had just returned from the World Rett Syndrome Congress, that she helped coordinate, in New Orleans. She explained that when her daughter Elena was born in April 2001, she knew, by 6 months of age, that something was dreadfully wrong. No pediatricians, or later neurologists, understood that Elena was affected by a rare genetic disease. By 2002, physicians knew the child had a disease, but Emanuela said that no one knew just what it was.
“SO Frustrating!” she explained with her thick Italian accent.
She said that by 2008, when the first congress was held, she realized that “very few scientists were working on CDKL5. From that moment my mission was to contact scientists asking them to devote their work to the study of CDKL5 and to find money to support their work.”
As I mentioned, even though we didn’t always understand every word the other was saying, Emanuela managed to describe what her days are like taking care of her daughter, who can not attend regular school in Bologna. She explained that this disorder has some autistic-like symptoms, as well as neurological and physical ones, requiring a variety of therapies, which are not cheap or easy to find. Emanuela discovered the merits of ABA therapy (Applied Behavior Analysis) online and took a course in order to help her daughter. Since it is quite expensive and rare to find in Bologna, Emanuela does this therapy herself with her daughter every week. In fact, using ABA therapy techniques, she recently taught Elena to chew food unassisted. Before that, her daughter mainly had a liquid diet, or her mother had to move Elena’s jaws up and down each time to force her to chew her food—a tedious process.
When Emanuela showed me how she did this, by placing her hands on my jaws and moving them, she seemed not at all phased when I asked her how she did this day-in and day-out for years.
“It is nothing,” she replied with a shrug.
Not exactly. But that’s the love of a mother, isn’t it? Most of us would do just about anything to help our children. When she was telling me about all that she does for Elena, I could only imagine how frustrating it must be for scientists, too, who are desperately trying to save children afflicted by rare disorders. My father dedicated his life to fighting rare, pediatric, genetic and metabolic disorders, and as Emanuela spoke, I wondered how he would have responded to her or her situation. He is now retired, but I’m sure that mothers like Emanuela must inspire scientists, like my father, to work as hard as they can to race against time to save children such as Elena.
In the meantime, there is much that Emanuela can do to assist Elena in her daily living. Emanuela’s schedule, for instance, is wrapped around her daughter’s needs with weekly therapy, swim classes and horse-back riding (that she managed to convince a neighbor to donate) that appears to help Elena’s scoliosis, neurological and physical issues, as well as provide socialization. (Although Emanuela says Elena is a bit of a chatterbox!)
“I would do anything for Elena,” she said looking at me with sincere eyes.
Yes, I do.
To learn more about CDKL5, please see Emanuela’s site, which can be read in English. To spread the news about CDKL5 and help Emanuela in her race to find a cure for Elena, please forward this article to anyone who you think may be interested.