Translation: Marion Clark

Dear friends,

In late February 2008, at the Galeazzi Orthopedic Institute in Milan, I met with Daniela, a 30-year-old young woman with Friedreich’s ataxia.  Daniela had noticed a great deal of improvement thanks to treatment with Ferriprox (Deferiprone) combined with an intensive neurological rehabilitation program.  In her case, in addition to physical therapy exercises, the program also involved long sessions with the Lokomat, described below (*).
In spite of the fact that Daniela’s first symptoms of FA only showed up at age 14, she was forced to use a wheelchair by age 16.  She doesn’t have heart problems or diabetes.  At age 23 she underwent surgery to lengthen the tendons in her heels, and another operation on both her feet in order to support them better (they’d already taken on the equine form common in FA).
Daniela is one of the 17 patients receiving Ferriprox for compassionate use under the supervision of the SQUIDD center in Turin, Italy.  She began Ferriprox treatment in late September, 2007.  In addition to this drug, she is taking Idebenone, 11 mg/kg/day.
Since January 7, 2008, she has been an inpatient at the Galeazzi Orthopedic Institute, where she is following an intensive rehabilitation program.  It’s important to note that she had been following this same program for some three weeks before she began taking Ferriprox, but that during that earlier time she was not getting the current results.

The following are the results already obtained in a few months, 

thanks to the combination of Ferriprox and intensive physical therapy:

Daniela now speaks more clearly and easily. She has a stronger voice.

Compared with before, she now has more stability in her trunk.  

Before treatment, she couldn’t use her hands, which clenched shut.  She could not write, hold a glass, feed herself, or grasp the wheels of her wheelchair to move around by herself.  Now she is able to write, although slowly, to pick up her own drink, to feed herself, to roll her own wheelchair.  In addition, when she rolls her wheelchair, her legs don’t  fall forward like they used to.

Before treatment, she could only hold on for a couple of minutes when she felt the urge to urinate.  Now she has good bladder control and can wait as long as half an hour after feeling the urge to urinate.

Before, when showering, she couldn’t tell the difference between cold water and hot.  Now she has better sensitivity to water temperature.

Daniela asked me to give you this message:  “I think it’s always important to think things out, looking to your own future.  It’s a mistake to let yourself be beaten or to live just day to day.  We need to be strong and to fight this.”  

She has agreed for me to send out this news of her progress, and she has also allowed me to record a first videotape which is now available on You Tube at the following links:


My best wishes to all of you,

Gian Piero

(*)  The Lokomat is an improved functional movement therapy. It is the first mechanical walking machine that automates movement therapy on a treadmill.  It has weight-bearing harness and some special braces which allow for precise adjustments.

For more information, click on this link:


 

The legacy of Marie Schlau: literature to help cure Friedreich's Ataxia

If you feel like reading an unputdownable novel while collaborating with a just and solidary cause, "The Legacy of Marie Schlau" is your book! 100% of all funds raised will be dedicated to medical research to find a cure for Friedreich's Ataxia, a neurodegenerative disease that affects mostly young people, shortening their life expectancy and confining them to a wheelchair.

The life of Marie Schlau, a German Jewish girl born in 1833 hides great unsolved mysteries: accidents, disappearances, enigmas, unknown diagnoses, disturbing murders, love, tenderness, greed, lies, death ... alternatively a different story unfolds every time and takes us closer to the present. Thus, there are two parallel stories unravelling, each in a different age and place, which surprisingly converge in a revelatory chapter.

Paperback and Kindle versions for "The legacy of Marie Schlau" available for sale at Amazon now!

https://www.amazon.com/Legacy-Marie-Schlau-collective-Friedreichs-ebook/dp/B01N28AFWZ

 

Research projects currently being financed by BabelFAmily

Currently, BabelFAmily is financing two promising research projects aimed at finding a cure for Friedreich's Ataxia. Whenever you make a donation to us or purchase a copy of "The legacy of Marie Schlau", this is where all funds raised will be devoted to:

1) Gene Therapy for Friedreich's Ataxia research project:

https://www.irbbarcelona.org/en/news/international-patient-advocates-partner-to-fund-spanish-gene-therapy-project-to-treat

The project is the result of an initiative of Spanish people affected by this rare disease who are grouped in GENEFA in collaboration with the Spanish Federation of Ataxias and the BabelFAmily. The Friedreich’s Ataxia Research Alliance (FARA), one of the main patients’ associations in the United States now joins the endeavour.

2) Frataxin delivery research project:

https://www.irbbarcelona.org/en/news/new-research-front-to-tackle-friedreichs-ataxia
The associations of patients and families Babel Family and the Asociación Granadina de la Ataxia de Friedreich (ASOGAF) channel 80,000 euros of their donations (50% from each organisation) into a new 18-month project at the Institute for Research in Biomedicine (IRB Barcelona). The project specifically aims to complete a step necessary in order to move towards a future frataxin replacement therapy for the brain, where the reduction of this protein causes the most damage in patients with Friedreich’s Ataxia.

The study is headed by Ernest Giralt, head of the Peptides and Proteins Lab, who has many years of experience and is a recognised expert in peptide chemistry and new systems of through which to delivery drugs to the brain, such as peptide shuttles—molecules that have the capacity to carry the drug across the barrier that surrounds and protects the brain. Since the lab started its relation with these patients’ associations in 2013*, it has been developing another two projects into Friedrich’s Ataxia.

 

 

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