Seeking a Cure for Simon

(die deutsche Version befindet sich weiter unten)

We cannot express enough gratitude for the tremendous support you have shown for ALL MCOPS12 patients. Your kindness and generosity have enabled us to not only fund the proof of concept for an ASO therapy, which has the potential to give children with MCOPS12 the ability to sit unassisted or even walk someday, but also a Natural History Study. This study is a crucial first step in future drug development and treatment for ALL MCOPS12 PATIENTS!

As Helen Keller once said, "Alone, we can do so little; together, we can do so much."

We invite you to continue supporting our non-profit organization, Cure MCOPS12, in our mission to transform the lives of ALL MCOPS12 patients and their families.

Our GFM Page will remain open and active, as this proof of concept and natural history study are only the initial steps in developing a treatment or therapy that may one day lead to a cure for MCOPS12.

To learn more about our story and cause, please read below!

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(deutsche Version):

Es gibt keine Worte, welche unsere Dankbarkeit für eure Unterstützung für Simon und andere MCOPS12 Kinder zum Ausdruck bringen könnten. Wir sind überwältigt von eurer Anteilnahme und der Vielzahl an Spenden, wodurch wir unser Spendenziel in nicht einmal 2 Monaten erreicht haben! Dank eurer Hilfe können wir nun die Entwicklung der ASO Therapie bis zum Schritt der Machbarkeitsstudie beginnen um das Unmögliche möglich zu machen – Simon eine faire Chance zu geben eigenständig sitzen, stehen oder gar laufen zu lernen.

Ihr habt weiterhin die Möglichkeit Simon und die anderen MCOPS12 Kinder zu unterstützen. Die gofundme-Plattform bleibt geöffnet. Wir haben im Rahmen der Kampagne noch weitere Aktivitäten geplant, da die Machbarkeitsstudie der ASO Therapie nur einen von mehreren Schritten zur Entwicklung eines Medikaments gegen MCOPS12 darstellt.

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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 and we can’t fund this without the support of all of YOU… 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.

Please HELP US as we fight to pave the way for a treatment option for ALL MCOPS12 patients like Simon!

How Can You Help?

1. GIVE whatever you can. No amount is too small

2. SHARE on your social media using our campaign hashtag #seekingacureforsimon

3. FOLLOW us on our social media #curemcops12 (Twitter, LinkedIn, Facebook)

4. WORD OF MOUTH tell your friends and families about Simon and our cause

For More Information: https://rarbmutation.org

From the Bottom of our Hearts, we cannot begin to thank you all enough for your compassion and support!

Simon, Edith, Reinhard, and ALL MCOPS12 Patients

WHERE YOUR MONEY IS GOING:

Cure MCOPS12 is a registered Austrian nonprofit organization dedicated to improving the lives of children and families affected by MCOPS12. MCOPS12 is an ultra-rare neurological disease caused by a mutation in the retinoic acid receptor beta (RARB) gene. Common symptoms include microphthalmia, severe movement disorders and variable intellectual disability.