Leonor is a special girl who loves to dance and sing. She has an outstanding memory and enjoys spending time with her family. But there’s one thing this 9-year-old doesn’t share with her twin sister, older brother or any of her friends. Leonor has CMT2A.  

It took four years of searching to get the diagnosis. 

We recently realised that Leonor started to lose feeling in her feet. No matter how hard she tries, she can’t move her toes.

As parents, these moments are hard to face, and there are currently no treatments available to stop the progression!

But we can’t let that fear and frustration win. We have turned our emotion into action. 

Leonor has difficulty walking and has to wear leg braces all day, every day. She lacks balance and cannot straighten her body, even when she’s sitting. CMT also affected her hands. She has tremors in her hands and difficulty using her fingers to  a simple thing like holding a pen.  

Her biggest challenge is to do all the daily “basic” things, like grabbing a glass of water, walking small distances, climbing stairs… for her it’s very difficult to keep up with the other children. 

Last year, due to the CMTRF awareness month initiative and your help, we were able to gather 24,088.90$. This fundraiser allowed a new research collaboration with renowned nerve disease expert Dr. Rudolf Martini to investigate whether inhibiting inflammation in the peripheral nerves could reduce symptoms and improve outcomes for patients with some forms of CMT. If successful, this research will provide important pathways for potential treatments.  

The CMT Research Foundation was also able to support projects already funded by them to make further advances into the search for a CMT cure. AcuraStem is one of the companies working in a collaborative research partnership with CMTRF. Their research uses patient-derived stem cells to test thousands of compounds aimed at producing effective treatments for CMT2A. 

AcuraStem has completed stage two of the project, identifying more than 35 potentially therapeutic compounds for CMT2A.

Join us on our way to cure CMT.

This year our goal is to achieve 25000$ to help raise vital funds to allow CMTRF to support cutting-edge research projects that will advance CMT treatments now. The science suggests that it’s possible to deliver treatments for CMT in the next few years. 

Now is the time for Action!

Join us on our fight to cure CMT, and help research projects like the ones of Dr. Rudolf Martini or AcuraStem’s be successful. 

Any donation that you make will be matched dollar by dollar by Cognipharma!