Translation:  Marion Clark

For background concerning Daniela, see also the video (in Italian) at the following links:



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At the following link you can download the audio (in Italian) of an interview which I conducted with Daniela in mid-September at the Galeazzi Orthopedic Institute in Milan.  In addition to Daniela and her mother, I also had a chance to speak with Maria Francesca, Daniela’s roommate, and with Paolo, both of whom also have Friedreich’s ataxia:  http://www.yousendit.com/download/Y2ovV285NEhrYUJjR0E9PQ

Daniela:  This Thursday I felt a strange feeling of pins and needles in my left hand and had a strange sensation.  That night I realized that I could raise my thumb, and that made me so happy that I superstitiously didn’t say anything about it to anyone, just in case.  On Friday I got up, and look at how I can raise my thumb now!

GP:  You couldn’t raise it like that before?

Daniela:  No, in the past I had already been doing rehabilitation exercises for my hands with Gigi [the physical therapist who had worked with Daniela during a previous admission for rehab], but I never had been able to straighten out my thumb this much. 

Renata (Daniela’s mother):  Yes, I had to straighten it for her myself.

GP:  Your mother told me that you’ve even been able to make a little necklace.

Renata:  A bracelet.

Daniela:  Now I’m also managing to plant my feet correctly.  The doctors told me that probably a calcification that was blocking the nerves had broken, or perhaps some other structures in the ankle, which had been blocking the movements of my feet.  On Wednesday I felt a crack, and I was scared by the pain I felt…

GP:  A crack in the right foot or in the left one?

Daniela:  In the right one.

GP:  And how are you managing the left foot?

Daniela:  Badly, but much better than before.

GP:  How’s it going with the Lokomat?  Do you do it every day?

Daniela:  It’s going well.  I’ve started with the machine which works at 80% while I work at 20%.

GP:  But before, you had gotten to where you were doing 30% of the work.

Renata:  With each admission [to the rehab facility], they start over from scratch.  Paolo, how far have you been able to get?

Paolo:  Now, up to 30%.

Renata:  And you, Maria Francesca, what have you gotten up to?

Maria Francesca:  I’ve gotten to where the machine does 75% of the work and I do 25%.

GP:  Paolo, how do you like it in this hospital?  Right now you can’t go out, but it appears that in the future you could come here as an outpatient.

Paolo:  Yes, we’ve been pioneers in a certain sense. As far as the company, it’s good, and I’d say the same about the physical therapy.

Renata:  GP, have you seen the little projects they’re doing?

Daniela:  You don’t know the latest:  we’ve gotten excellent at playing Pick-Up Sticks.

Renata:  You should see how they play Pick-Up Sticks!  They’re great at it, all three of them!  It’s incredible.

Daniela:  And with what precision!

Renata (showing the handicrafts done by Daniela, Paolo, and Maria Francesca):  Look, Paolo did this one, he painted it and glued it and everything else.  Mari did this one.

Paolo:  These are decoupages.

Renata:  Daniela did this one.
Daniela:  And we make bracelets as well.

GP:  It’d be nice to be able to videotape you stringing the beads into bracelets.  It’s too bad we don’t have more time.  Today I’m here more to do, shall we say, an investigative visit.

Renata:  But they do it really well, don’t they?  Especially taking into account that they also have to paint them with a paintbrush.

GP:  Listen, Daniela, what about the exercises that we videotaped you doing last time at the end of the video where you were putting the pegs into holes? 

Daniela:  I’m still doing those, the pegs, the pyramids…I’m also doing other exercises that Andrea, the physical therapist who is currently treating me, is teaching me to do.  The pegboard exercise, I’m still doing that on my own.  With Gigi  [the physical therapist who was treating Daniela before] I had begun to do some physical exercises to spread out this area (Daniela indicates her diaphragm) and to bring forward my belly, and now I’m continuing to do those.

GP (speaking to Renata and Paolo): I’ve noticed that Daniela is speaking much better now.  Before, her voice had fluctuations, and the dysarthria was more marked, isn’t that right, Paolo?
Paolo:  Yes.
GP:  Daniela, if you keep on like this, in a little while, we’ll be taping you singing…
Renata:  Her posture is more erect now.

Daniela:  In my opinion, we who have ataxia have problems with our voices because of our hunched-over posture.  Since I’ve been trying to open up my thoracic area, I am talking better, I feel like I’m speaking with more fluency, and my tongue moves with more agility.  Before, however, it was very tiring for me.

GP:  Your mother told me that you also have more freedom in your movements—in the sense that you have better coordination?

Daniela:  Yes.

Renata:  And her legs don’t give way like they used to.

Daniela:  I manage to stay on my feet a little better, supporting myself more lightly with my arms and keeping my hands open.

Renata:  Now she can sit up straighter in bed, whereas before she was always bent.  Do you remember in the video where Gigi was giving her little blows on the side to make her lose her balance?  Now she can stay up straighter.

Daniela:  I no longer do as well on the exercise where I raised the stick to place it behind my back.  I’m tired of it.  It might not seem like it, but it is an exhausting exercise.  Even so, when I’ve relaxed, I’ll try to do it again and show it to you.

GP:  A mother from France wrote to ask me about your news.  I answered her that there wasn’t much real news other than what was sent out recently through the list.  She wanted to know if you’d had any improvement since then.  Having a daughter with FA, she sees a hope [for her] in you. 

Daniela:  You know, about that young man, Adrian, who was taking Ferriprox and had been in a wheelchair since 2005….he’d received treatment since the start of his illness [symptoms], unlike myself—I’ve gone through all the phases imaginable [of FA].

Renata:  I don’t think that’s relevant.  It probably depends on each person—not all respond in the same way.

GP:  In the AISA (1) forum, Antonella was saying about Adrian that “we hope he’s not the only example and that there will be others as well.”  I told her that besides him, there’s also your case, that you’ve shown some improvements, and also there’s the case of Kevin, the son of Beatrice Hurvoy (2).  Kevin was more or less in the same condition as Adrian, and now it even seems that he walks, plays sports, plays ping pong.  Adrian, like Kevin, is someone who exercises a lot:  he swims twice a week and does physical therapy three times a week.

Renata:  In any case, with respect to Ferriprox, Dr. Longo of Turin also told me, back before July, that [they] have all had good results.  With the exception of just one case, since that patient wasn’t doing any type of physical activity at all.

GP:  In December they’ll do an MRI on Adrian.  It’d be interesting if you had that done in Turin as well, wouldn’t it?

Renata:  They do MRIs, of course, but Daniela can’t have an MRI done because she has prostheses [metal pins] in her feet.  But they’ve already done one on Paolo.

GP:  In Paris, Dr. Munnich showed the results of MRIs done on several patients, and it could be seen how the quantity of iron in various organs was reduced, where before there had been a large accumulation of iron.
Renata:  Dr. Longo also believes that the drug is effective, but that there needs to be a strong will to do physical exercise.

GP:  In the AISA forum, I’ve repeated to Antonella that when MariLuz was in Paris for a consultation with Dr. Munnich, to see if her daughter could be enrolled in the study in Paris in spite of being Spanish, Dr. Munnich told her that Ferriprox doesn’t do anything if it isn’t combined with intense physical activity.  Therefore a person who doesn’t do any physical activity and who stays in a wheelchair should not expect that Ferriprox is going to magically make him or her be able to get up, walk, and move around.

 
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(!) AISA:  the Italian Ataxia Association, www.atassia.it

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.

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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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