Help Olly Onlus is
a love project
Olivia is five years old and she is affected by a rare genetic disorder with only 30 cases known worldwide.
Olivia
Olivia is five years old and she suffersfrom a rare congenital genetic disorder. This disorder will eventually deprive her, of the ability to walk, move, play, talk, smile, eat and breathe. But it won’t deprive her of the ability to understand what is happening to her. Hers is a story, of a struggle against time and of a journey to defeat an enemy which is within her and her DNA: a modified gene, responsible for a serious neurodegenerative disease, for which there is currently no treatment available.
Help Us!
We don’t know how much time we have, but we want to fight this battle for Olivia and all the children who, like her, are affected by this disorder or by similar ones and that might benefit from this research and medical advancement. However, we can’t do it alone. We need your help. Olivia needs your help.
Our Story
Olivia was born on September 19th, 2017, a blond pumpkin weighing 3.300 kg. For us, mum, Sara, dad, Simone and her older sister Vittoria, it was an incredible emotion. A year after, little Mattia Francesco arrived and completed our family. We were happy and it looked like nothing could upset us.
Unfortunately, we were wrong.
What looked like clumsy and awkward imperfections of a toddler taking her first steps, turned out to be the unmistakable symptoms of a bigger problem. But never would we have imagined how big.
We started going through visits, exams, tests, hospitalizations, with increasing fear.
Her diagnosis came a few days after Olivia’s birthday: infantile-onset ascendingspastic paralysis, a very rare motor neuron disease, inherited by us, unaware asymptomatic carriers of this terrible genetic mutation.
It was October 5th, a day we’ll never forget: for us it was darkness, silence and grief.
But it was also a new start: a new life start, aimed at fighting and struggling to offer Olivia a chance and a future. Knowing the story of many other families allowed us not to feel alone any longer and to find in their strength a model and an example to follow.
Only a few months have passed but it feels like an eternity: now we live in the moment, without making plans, trying to thoroughly enjoy each moment with Olly, all together, knowing that it’s a precious gift we have to be grateful for.
We go on, following an unknown path, step by step, fall after fall, alternating moments of discouragement and rage with moments of acceptance and hope and yet again with others of fear and confidence.
But we are not giving up and we are looking to the future with optimism because Olly – and all the children like her – deserve it and only we can help them to achieve a concrete result.
The Disease
Scientific References
Infantile-onset ascending spastic paralysis is due to a mutation of the ALS2 gene. It is a very rare motor neuron disease: patients are absolutely normal at birth and in their early development stages. Afterwards, in the first two years of life, reflexes increase and a significant stiffness of the lower limbs appear. These are the first symptoms of a spastic paraplegia. Until 7-8 years of age, weakness and progressive spasticity extend to the upper limbs
Other signs include dysarthria, dysphagia (sometimes associated with drooling) and slow ocular movements. Most patients become wheelchair-dependent before their late childhood or their early adolescence and some of them have feeding difficulties (such as swallowing liquids) starting in the second decade. At a later time, the disease progresses to a serious spastic tetraparesis and a pseudobulbar syndrome can appear. Usually, cognitive function is preserved.
The outlined timing is approximate: the course of the disease can also be of a few months.
Currently, only a few studies have been conducted by the Universities of Chicago and Toronto, which allowed to identify this disorder and its clinical course. However, neither of them had a therapeutic aim and so currently there is no therapy nor remedy that can slow its progression.
Olivia is now being cared by Fondazione Stella Marisdi Pisa, the only Scientific Institute for Child and Adolescent Neuropsychiatry acknowledged by the Ministry of Health for these disciplines.
Help Olly Onlus
Our Association is an apolitical, non-denominational, non-profit institute, that only pursues social solidarity purposes in the fields of social and health assistance and charity. The Association promotes fundraising activities for subjects affected by spastic paralysis inall its forms. The fundraising purpose is to support research projects conducted by Universities, Foundations, public and private entities in Italy and abroad and to support people affected by this disease and their families.