Lucia Mentz
Fundraising on behalf of The WWOX Foundation
Fundraising on behalf of The WWOX Foundation
A$742,42
Recaudado
8
Donaciones
A$3.000
Objetivo
Lucia's Story
We are parents to beautiful little girl called Lucia who is almost 7 years old. She was born after a stressful delivery and emergency c-section, and we immediately suspected something was not quite right. She didn't cry and her hands were permanently curled up in little balled fists.
But it was on day 18 of her life when she suffered her first of many seizures that we realised that something serious was going on. And so our journey with epilepsy started. Neither of us have ever known anybody who suffered from epilepsy, so very much uncharted waters for us.
We remained in hospital for two months while Lucia was subjected to a barrage of diagnostic tests to try and determine what is going on. Nothing conclusive was found but a genetic cause was suspected.
For the next year we simply didn't know what to do and felt extremely helpless as we saw Lucia have seizure after seizure. As Lucia's seizures progressed to Infantile Spasms, she rapidly started losing whatever little development she had to that point. She stopped kicking her legs and stopped vocalising.
Shortly before Lucia's first birthday, we finally received a diagnosis. A full exam study revealed that Lucia has WOREE Syndrome.
WOREE Syndrome was an emerging syndrome and not well known by most clinicians at that stage. While we were relieved to finally have a diagnosis, we also learnt that the prognosis is extremely poor and that most children with this condition had an average life expectancy of only 4 years. We were told that nothing can be done... It was the worst day of our lives.
It has been extremely hard to accept our daughter's diagnosis, but we have since accepted it and more importantly accepted her as the beautiful and cheeky little girls that she is. We have come to realise that despite our daughter's profound impairment, that she is a living and conscious little girl who has the ability to feel love, experience happiness but sadly also to experience pain and suffering.
But acceptance is not quite the same as resignation. We simply won't stop to do whatever we can to improve her quality of life and also to alleviate the suffering of so many other children affected by WOREE syndrome, that is why we ask YOU to help us fund ongoing medical research and find new treatments for Lucia and our WWOX warriors.
Walk with us for WWOX patients all over the world this February!
Join us in raising awareness and funds for WWOX-related Diseases by walking at least 16 miles this month.
How?
Create your personal fundraising page, and share your story. Track your walking miles and share your progress on your page with your friends and family. They can also join you by being part of your team on your page!
Where?
You can join us from anywhere in the world!
Why?
Walk, share and donate for a better future for children living with WWOX diseases by helping us fund critical research initiatives. The WWOX Foundation has identified promising therapies that could improve the lives of our little warriors and their caregivers. However, we currently do not have the funds to properly test and deploy these therapies. We need your help!
WWOX is a gene that codes for a protein that plays a critical role in brain function. Mutations of this gene can lead to ultra-rare forms of childhood epilepsy known as SCAR12 and WOREE Syndrome. These diseases first show up as seizures within the first few months of life. From the first seizure, symptoms continue to grow. Children with WWOX deficiency have many difficulties including eating, breathing, digesting and countless others. The majority of children have no speech or mobility and rely on their caregivers for every facet of their life. Children with the most severe type of genetic variants will not live through their childhood.
Currently, there are no approved treatments for children with SCAR12 and WOREE Syndrome. However, there is promising research that that could dramatically improve these children’s lives. To pursue these new research initiatives the WWOX Foundation needs your help. As a volunteer-run nonprofit each dollar donated goes towards our research and advocacy programs to create a brighter future for these children. Help us kickstart our 2024 research projects by donating and sharing!
Projects we seek to fund:
$25,000 – Creation of new stem cell lines to better understand the spectrum of the disease and screen for potential treatment options.
$25,000 – Fund WWOX patient registry to gather important patient data to guide our research.
$75,000 – Drug Repurposing Screening Study to determine if any existing FDA approved drugs can be repurposed to improve symptoms of patients with WWOX deficiency
$250,000 – Conduct a small (~10 patients) clinical trial to determine efficacy of a targeted re-purposed drug candidate.
Muro de Donantes1
Jeimmy Adriana Bulla Castaneda | A$30
Para mi princesa Lucia.