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 a 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.
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.
However, to succeed, we must also tackle the genetic root cause found in MCOPS12 to STOP the disease from progressing and improve these life-altering symptoms… This was when we realized that if we were going to do this, truly fight this disease head-on, we needed the support of the greater community because we simply can’t do this alone.
That is why we are here today. We’ve FOUND a therapy using Antisense Oligonucleotides (ASOs), which has the potential to do just that – stop the progression of the disease and improve the symptoms! A therapy that is new and innovative and not something we thought would ever be possible.
Our first goal is to raise 75,000€ to design and establish a proof of concept for this ASO therapy to determine if this is truly a viable treatment path for ALL MCOPS12 patients. A therapy that could make basic things such as communicating basic needs, sitting, and walking actually POSSIBLE.
However, this potentially life-changing therapy is not cheap, 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 Simon and ALL other 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
5. SHOW off your support for our cause with your #UNselfie (It’s a selfie with a caption or a sign that states you’re supporting our cause, by sharing a picture and our GFM link for #GivingTuesday and why) for #GivingTuesday using our campaign hashtag #seekingacureforsimon
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.