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Posts Tagged ‘friedreich’s ataxia’

Oooh, dramatic subject!? 😉

Loosing my independence was the worst part of getting FA. I know many of you feel the same. You never really know how important independence is until you start loosing it. Right?

We were in Bejing, China, in 2010. I was only using walking sticks for support. We were at The Winter Palace and the Tinanmen Square (“Gate of Heavenly Peace”). Just getting to the entrance was really hard work. I ended up being so exhausted that I only made it just inside and then had to go back to the hotel… What a waste!!

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Thank you for all the replies you have sent me so far. It is quite interesting to read, right? I hope we will keep getting many more replies. Comment below or send me an email: fafysio@extremeliving.no

Thank you so much dear translators for helping me spreading the word; Ahmet Sami Konca, Marisa Condurso de Nohara, Marilou Mertens, Dorival Ruiz, Amalia Maranhao and Michela Mogavero.

Also a big thank you to the amazing Gian Piero Sommaruga for coordinating translations and always for your great support and patience.

If you are not following the Babel Family group on Facebook than you really must go there and like the page https://www.facebook.com/groups/52801039038/

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Do you like what you’re reading? I love it!

Thanks to the research team at Akershus University Hospital in Oslo with clever doctor Wyller in charge and not least, thanks to amazing Emilie, the scientific article about Imukin and cardiomyopathy is now published. This is a case study so the research is done one person, but pretty promising right?

You can download the article here: Wyller et al_Imukine for cardiomyopathy in FRDA_Int J Cardiol 2016

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I am sure you remember the blog post I wrote about Emilie in Cardiomyopathy and Imukin – promising news!

Today is the release of her first single Unbreakable! I downloaded it on iTunes this morning and I’ve kept listening to it over and over. Living with friedreich’s ataxia is extreme… That is why I called my blog Extreme Living. I cannot imagine how it is like growing up with this monster, as FA really is… It takes a lot of strength that is for sure. You can really feel the strength behind this song!

emilie mimmi austad andersen unbreakable imukin

Emilie is now on 150 micrograms of Imukin. She feels stronger and she has started to excercise. She has always been very strong but now she is doing pull-ups! Early this summer she was at a concert and she tells me that for the last hour she was standing the whole time singing and dancing!

As you remember from my last post, Emilie has quite severe cardiomyopathy. Today she tells me that the heart markers keeps improving! How is that for amazing news!! ❤ ❤ ❤

She can still be nauseous and have a headache as a reaction to the drug, but she is not as tired as she felt in the beginning of the treatment

You should really download her single!  It is available all around the world on iTunes and Spotify. You’ll find it here:

iTunes:https://itunes.apple.com/no/album/unbreakable-single/id1027446403

Spotify: https://open.spotify.com/album/1rX98uly17AK2ej9YiEjYB

Emilie is one of the two vocals you can hear, she wrote the lyrics and has pretty much had the creative control over the entire production.

Emilie, you inspire me! Thank you for making this song and for sharing your story with us! ❤

Unbreakable

By Emilie Mimmi Austad Andersen

 

When it comes down to it

I must admit

I’ve been through a lot

But I never gave up

They tried to knock me down

But I am stronger than they’ve ever known 

 

Now I don’t care at all

Now I’m picking up the pieces

And I’m moving on

I’ve cried so many tears

But I’m over it

I’m unbreakable x2

Yeah, I’m unbreakable

 

They enjoyed the view of me laying down

Breaking into pieces

Screaming for help

My scars and bruises have healed

I’m getting up

With a smile on my face and it won’t fade

 

Now I don’t care at all

Now I’m picking up the pieces

And I’m moving on

I’ve cried so many tears

But I’m over it

I’m unbreakable x2

Yeah, I’m unbreakable

 

Never ever happen again x2

 

Cuz I made it through

And I’m standing here

With my head up high

 

But now I am raising 

You are falling

Cuz I made it through

And I’m standing here

With my head up high

 

I’ve cried so many tears

But I’m over it

 

I’m unbreakable x2

Yeah, I’m unbreakable x2

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I love narrow hallways and tiny bathrooms. Open areas are very scary cause there is nothing to hold on to. The walls are my friends! Anyone else who love walls? 🙂

IMG_2005

Last year I got four of these poles. They are placed around the house in areas where there is nothing to hold on to. It is a great help in “taking back” areas of my house. Yeah yeah, I know what they look like… Use them as you wish 🙂

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frus·tra·tion
frəˈstrāSH(ə)n/
noun
noun: frustration
  1. the feeling of being upset or annoyed, especially because of inability to change or achieve something.

frustrert

When I hear doctors (and parents) refusing Imukin treatment to people with FA who wants to see if it can help it makes me laugh AND cry! It is both hilarious and devastating. Imukin (interferon gamma/ actimmune) might not help everybody, it won’t cure us but many people who have tried it experienced relief of symptoms. There are no words in the world that can justify what kind of relief that is!

How can the risk of flu-like symptoms be a reason not to try Imukin when FA is as terrible as it is? I know many decition makers are scared that there are more serious side effects to Imukin. There might be but it is not common. What kind of medicine does not have serious side effects listed in their description?

The most common side effects to Imukin are flu-like symptoms. What is that:

Flu:

  • fever
  • headache
  • chills
  • myalgia

I would take flu-like symptoms every day for the rest of my life as long as my FA symptoms gets better. That said, I hardly feel any flu-like symptoms from taking Imukin anymore. The body adjusts.

This is why I think doctors should let FA patients try Imukin:

Friedreich’s ataxia (FA) is a debilitating, life-shortening, degenerative neuro-muscular disorder.

  • loss of coordination (ataxia) in the arms and legs
  • fatigue – energy deprivation and muscle loss
  • vision impairment, hearing loss, and slurred speech
  • aggressive scoliosis (curvature of the spine)
  • diabetes mellitus (insulin – dependent, in most cases)
  • a serious heart condition (enlarged heart – hypertrophic cardiomyopathy)

Again, I am not saying that Imukin is a cure but it might make symptoms improve. Please do something! Something is better than nothing!

Just sayin…

 

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About time

All of a sudden it’s almost March and I’m realizing that my last blog post was published around Christmas! Time is going by so fast.

I was planning to update my blog more often, but I just can’t find the time.  My family keep telling me to slow down and work less but it is not so easy. My work is too much fun and interesting so there is not enough time in the day to update my blog like I wanted to.

A lot of people have contacted me lately to see how I ‘m doing. I guess you want to know how everything is going with me on Imukin and everything related to it. Maybe you are thinking of starting the process of getting Imukin yourselves and just want to know if everything is still all right with me.

Everything is good! 🙂 I still take 200 mcg Imukin three times per week. Results are the same and I’m barely experiencing any side effects at all.

If you want to follow me on instagram my account is gdog78x. I make updates more often there.

Another thing I´ve been thinking about.

I am in contact with people from all over the world regarding Imukin. I often feel the need to get you in touch with each other. For example If I know that one person in a country knows a lot about Imukin in that particular country I will pass that email on to another person in the same country asking for advice. I really hope this is ok. In this situation we must try to help one another as good we can.

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I just wanted to show you something incredible that i know will spread motivation and hope. I know it really motivates me! The beautiful Ilva and her mother just sent me another video of the great progress she is making. If you want to see her walking before she started taking Imukin in January you can find the video HERE.

And this is Ilva walking now, after 10 months on Imukin. She is on the dosage 200 micrograms three times per week.

They also tell med that she can now button her shirts and write her exams at school by hand. She wasn’t able to do that before she started on Imukin!

I am still doing great! 🙂 We just arrived at the mountains where we will spend christmas with Morten’s family. I wish you all a fantastic christmas! ❤

IMG_1187

But first, let me take a christmas selfie… With the new headband my mother in law made me 🙂

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Last Monday the results from the phase 2 study of Interferon Gamma for the treatment of Friedreich’s Ataxia was presented. There was also a presentation held by the pharmaceutical company Horizon Pharma that owns the right to Actimmune/Imukin.

This event was recorded and is available HERE. You can both listen to the webcast and see the slides they used.

I thought I would try to make a short version of the main points of this presentation. This is a mix of the info that was shared from the different speakers.

Just note that I am not part of the studies in any way. I am not a researcher or a doctor. What I write in my blog is based on my own individual experience and how I understand the facts.

SUMMARY

Actimmune (interferon gamma-1b) has been on the market for many years and is already FDA approved for two other orphan diseases (orphan diseases = rare diseases). The first approval came in 1999 for Chronic Granulomatous Disease (CGD).

There have been about 200 clinical trials done on Actimmune. The research is done on a variety of diseases so the safety and tolerability of the drug is well documented.

The good news for us is that since it already is on the market it is usually easier to get it approved for another indication than if it was a whole new molecule. This can speed things up. Speed is a good thing, right?

Not much of the research on FA going on today is done on children. This is because the majority of substances tested are new molecules. Using children as subjects in research is therefore often restricted, but not on Actimmune. Since this medication already is used on children (with other conditions) they were able to do this phase 2 study on children with FA.

STUDY DESIGN

  • 12 people, ages 5- 17
  • Doses: from 10 micrograms, gradually increased to the maximum dose at 50 mcg
  • 12 weeks duration
  • Measurements: Frataxin levels, Neurological tests (including FARS). See the other tests below;

IMG_1517

RESULTS

Side-effects:

Almost everyone experienced some kind of reaction, but they were minor and typical for IFG. These are the flu-like symptoms.

Frataxin:

The way that frataxin is measured is through blood cells and buccal cells. Buccal cells are the cells you can sample from a swab of the inside of a person’s cheek. You have probably seen this on CSI 😉

The problem with this measurement is that these cells are not affected in FA. The best thing would be to investigate the neurons affected, but this is not possible at the moment. We cannot go to the lab and deliver samples of our spinal cord every other week, right! Some interesting problems we would get then… 😛

Back to the results;

“While there was statistically significant change in frataxin levels it was not at a level or magnitude that could be clinically meaningful.” You can see every individuals change in frataxin below. Every line shows one person. Injections stopped at v5.

IMG_1511

Even though the increase is not high enough to make any conclusions at this point, the researchers find this amount of “noise” on the charts unusual and very interesting for further research.

FARS

FARS can be a bit confusing since 0 is good and high numbers are bad. If you have a lower score it means you have improved. A higher score means that you are getting worse.

After 12 weeks the FARS score decreased by 5 points!

Five points might seem very little, but check this out; They say that 6 point increase is the normal progression rate over two years. The results indicate that these children improved about 18 months in neurological function!

This is a significant neurologic improvement.

The improvements did not last when they stopped the injections as the trial ended.

NEXT STEP

As you can see below the phase 3 study is already in planning. Horizon Pharma and FARA will do what they can to speed up this process. Scheduled start of phase 3 is during the second quarter (April – May) of 2015.

IMG_1515IMG_1514

 

Finally a comment about my own FARS score. I started taking Imukin the 27th of August 2013. My FARS at baseline was 47,5. When I re-tested the 10th of December it was 44. That means 3,5 points improvement. I was told that this change was very low, but what I learned from hearing JenNifer Farmers speech last week is that 3,5 points improvement equals over 1 year improvement! That is huge! This was after 15 weeks on Imukin.

 

 

 

 

 

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Walking on uneven ground is fantastic exercise. It sharpens my senses. When I walk it is like my brain wants to move forward and the rest of my body from my neck down is not cooperating. I have to controll every movement in detail through my mind. Have you seen the robocop movie? When they take a mans brain and put it into a robot body? Well I am like robocop only without the super powers… 😛

I really hate watching my own walking, but it’s a great lesson in what I need to work on to improve my skills. You should try it.

 

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