Angelman syndrome is a neurogenetic disorder that affects one in 20,000 people
It took Elizabeth two years to get a diagnosis, and her parents saw up to 12 neurologists
The family has created the association La Ilusión de Elisabeth to fund aid for other families, research and mutual support
What are the chances that a normal pregnancy from healthy parents will result in a precious baby with a rare syndrome? The answer is somewhere between 20,000 and the name of this remote possibility is Elizabeth. The girl, who has already turned five years old, you have Angelman syndrome, a genetic neurological disordercaused by changes in the UBE3A gene located on chromosome 15. There is no cure or specific therapies.
People with this syndrome, which mainly affects the nervous system, have very different effects, but what Raul and Soraya heard after naming the “strange things” they saw in Elizabeth was that the girl “wouldn’t walk, would have to be tube-fed, wouldn’t talk and would have a severe cognitive delay.” In fact, Ellie walks, communicates even if she doesn’t talk, eats and enjoys herself deep from your environment.
Soraya and Raoul’s life revolves around Elizabeth. Especially hers, a neuropsychologist who has stopped working to care for the girl. Although this about not having a job is not true, because if raising a normal child is already a job in itself, it is even more so when your child has a rare disease. Elizabeth’s progress and quality of life depend on the therapies she receives. Only 2,000 euros go into them every month and many hours of the day. “There are times when my daughter is still doing therapy at nine-thirty at night,” says Soraya. And he lists: “Every week he does physiotherapy, locomat, speech therapist, Pádovan, integration of primitive reflexes, occupational therapy, equine therapy, music therapy, swimming… and all these professionals are private, we pay for them thanks to Raúl’s work , help from grandparents, donations and grants we receive’. And here a separate chapter opens.
Because when they got the diagnosis, Elizabeth’s parents found themselves so alone, so helpless, so lost… that they created an association, the Elizabeth Illusion, so that “as little as possible they would have this like us.” “To your sorrow as a father, because you will not have the child you expected, and you have to face the very harsh reality, administrative obstaclesSoraya explains from Braga. Braga, Portugal, yes, because they spend two months of the year there in a center where Elizabeth does intensive therapy for seven hours every day. This is what they spend their summers doing.
“They tell you: you’ve got this, get on your own I left all the institutions in tears, because on top of that you seem to be begging. And all you want is for them to advise you, to guide you. We need administrations, social services, communities, town halls, professionals who work with addictions… to be ready to help families like ours, someone to guide us. You can’t go to a therapist and say, “There is nothing that will help your daughter.” I already know what my daughter has, but she has the right to the maximum quality of life and for that she needs therapies. Well, those are the cards we’ve been dealt in life, but sometimes we need someone to help us play them,’ Soraya vents, all in a row.
With back pain from lifting Elizabeth, who now weighs 30 pounds, panic attacks while driving, and all her focus on the girl, the woman asks for sympathy.
But now, he says, he doesn’t stop. And he tries to explain Elizabeth’s illness to everyone “because what cannot be seen does not exist”. So when they look at their daughter, they point at her or even criticize her – such as she is – she explains to them why she wears a diaper, or why she uses a pacifier, or why she screams like that. He recounts an anecdote from a few days ago, in a restaurant, when he heard a comment: “Look at her, she’s so old and they’re carrying her with a pacifier.” “And I told her,” says Soraya proudly, “yes, ma’am, she wears a pacifier because she has a rare disease called Angelman syndrome, do you know her? Look, I’ll explain it to you…”.
The networks will say it’s a prank, but for Soraya it’s a revelation, it’s not a hiding, it’s not a shame, a guilt or a point. This is pedagogy. “Because when you explain what’s going on with Elizabeth, whether it’s an adult or a child, they understand you. It changes their view of the world. We don’t want them to feel sorry for us, but we want them to understand our daughter” reflects this mother.
There are about 600 people diagnosed with Angelman syndrome in Spain, but rare disease associations estimate that there could be as many as a thousand. People with Angelman syndrome tend to smile and laugh often, like Elizabeth. Soraya says that since she was born she had things that they didn’t see as normal, even though “they told me i was a hysterical new mom“: vomits through the nose, has not reached the stages of the corresponding age – sitting, getting on all fours, talking – and When they were two years old, they named these different behaviors. Others, Soraya says, take up to six years to have a diagnosis. They they had to see twelve neurologists until they discovered Angelman syndrome.
And here time is against it, because the human brain has the greatest capacity for learning, the greatest plasticity until the age of three, then until the age of seven. And core functions that have not been internalized until now are much more complex to achieve later. So access to specific therapies as soon as possible is essential for what all parents want: for children to be happy and autonomous. This is the goal of Soraya and Raul: “That Elizabeth has the fullest possible life, that she is happy and can be autonomous“. Angelman syndrome is not degenerative, and the life expectancy of people who suffer from it can be that of a healthy individual.