The story of Simon
We are the Pell Family – Reinhard, Edith, and our 5-year old son Simon. Simply put – Our son Simon is living with a severe, debilitating, and progressive neurological disease called MCOPS12, which has already deprived him of his sight, the ability to stand, walk, or even sit unassisted, and has caused a significant developmental delay.
We asked ourselves, what can we do? And as his parent, we’ve spent every single day doing everything we possibly can to give him the brightest and best future possible.
Our Story:
A year after Simon was born, we received the devastating diagnosis that Simon has MCOPS12. All we knew was that less than 20 patients were diagnosed with this disease at the time and that there were NO treatment options available.
We asked ourselves a million questions – What does this mean for Simon? How can we help him? Is there anything we can do? We felt unbelievably scared, anxious, and angry. We found ourselves asking, WHY? Why our son? Why a disease so rare that no one has done anything to treat it?
In that moment, we knew that we could let this diagnosis destroy us or do everything in our power to do something for Simon and every kid like him. And that’s when we made a vow that we would do whatever it takes to find a therapy and a cure for MCOPS12 – a disease depriving our little boy of living a healthy and independent life.
What have we done?
We spent months looking for neurologists, experts in the pharmaceutical industry, researchers, academics in the field, literally ANYONE that could potentially HELP Simon.
We eventually found two academic teams who could do just that! The HOPE we felt in that moment was IMMEASURABLE…
As parents, we would go to the end of the world for our child, even if there were only just a little chance that they could have a better, healthier life… without a doubt, we would do whatever it takes. If it was your child, wouldn’t you?
The two academic teams have since conducted fundamental research on MCOPS12, helping us understand the mechanism of the disease. However, they quickly surmised that the path to treatment would be a long and arduous journey due to the complexity and rarity of the disease.
That’s when we founded, in the summer of 2020, our non-profit organization, Cure MCOPS12 – as we knew that to have a fighting chance at a better and more independent life for Simon, we needed to do so much more.
To date, we’ve identified two treatment paths. The first path is ongoing and focuses on testing established drugs in disease models to improve the two major symptoms of MCOPS12 patients – their severe and progressive movement disorders and their cognitive impairment. The second path is the creation of an ASO therapy with the hope to silence the mutation of the RARb gene causing the various movement disorders experienced by MCOPS12 patients.
As both of these treatment paths are ongoing, we can NOW take the next critical step in finding a therapy for MCOPS12 patients.
In collaboration with the CHU Sainte-Justine Research Centre in Montréal, Cure MCOPS12 will establish and co-finance a natural history study for MCOPS12 patients. Natural history studies collect health information from patients over time to better understand diseases and evaluate how they progress. By collecting comprehensive medical data from each individual diagnosed with MCOPS12, we can evaluate the effectiveness of potential therapeutics in clinical trials in the near future.
Once the preclinical development of the ASO therapy and the drug repurposing study are finished, we will have tools to measure the effectiveness of those drugs thanks to the natural history study!
However, conducting this natural history study costs approximately €30,000.
In honor of rare disease day we are seeking to raise donations to fund this natural history study! We are asking YOU today – to help make the impossible, POSSIBLE.
Help us give ALL MCOPS12 patients a CHANCE at a better life – that allows them to live without so many limitations – with a chance to make their OWN mark on this world.