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Posts Tagged ‘treatment’

This morning I read a really scary and exciting story. A true story!

It’s about the newborn baby Frataxin who is destined to play an important role in keeping the nerve system safe when they grow up. To become an adult they have to travel the dark and dangerous roads to the safe city of Mitochondria. The distant lights from Mitochondria draws them closer and closer on their way to become the true heroes they are meant to be. In the darkness the Inspectors of Death are luring. Their mission is to watch the baby Frataxins and to tag them with Ubiquitin dust, the Kiss of Death. The Frataxin babies unlucky to have been tagged is immediately attacked by the Death Squad and transported  to the Hall of Proteasome where they are melted in the great fire. They will never become the Protectors of the nerves as they were meant to.

 

Until one day when the superheroes arrive. With their great powers they throw a protective shield around all the Frataxin babies and knocks out the Inspectors of Death. The superheroes follow the Frataxin babies all the way from the crib and to the city of Mitochondria where they grow up to fulfill their destiny to protect and defend the nerve cells.

 

The end.

 

Hahaha so much drama! Well, this is what I pictured in my head when I was reading this research report  from Team Testi this morning:

E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia.

 

frataxin-research

 

“The kiss of death” is actually a term used in medicine for the process when the protein is tagged before destruction. The ones who discovered this process actually won a Nobel price for it.

 

When you have a really dangerous and evil beast, like FA, you have to target it from all angles to kill it. What these researchers have discovered is the substance in charge of destructing the frataxin protein. This is a completely normal and necessary process that constantly goes on. New proteins are created from our gene codes and later they are broken down. It happens in all creatures.

 

The thing for FA patients is that our cells produce so little frataxin already. We really want to keep it all, right?

 

These researchers have found that E3 Ligase RNF123 plays an important role in the natural destruction of frataxin. Now that it is identified they can start finding treatments that aim to stop this process. (The treatment = the superheroes from my little story.) So while they look for treatments that increase the frataxin production they can at the same time stop the frataxin from being destructed. More frataxin for me and more frataxin for you. I love it!

 

There is so much exciting research going on at the moment. The fact that so many brilliant people dedicate their time, brain and life to find a cure for you and me is so amazing. THANK YOU! ❤

 

As you know I really have a weak spot for Team Testi as they gave me my life back through interferon gamma. “Team Testi” is my own name. The company name is actually Fratagene. Their slogan is: “One Disease, One Commitment” Check out their web page here.
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This picture is borrowed from FARA @curefa_org on instagram. Go follow them 🙂

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This morning I woke up to an incredible message of hope! Not a bad way to start a new day?! On my phone there was a message from a happy mother sharing some good news about her daughter Emilie. Emilie is a great inspiration to me in so many ways. She is a musician and is releasing her first single later this summer. We are so excited about this. It is called “Unbreakable” and I’ve been lucky enough to listen to some of it already. It is so good!! 🙂 She is 18 years old and has FA.

emilie11225820_10153174725787211_1540288372_nBeauty, musician and warrior ❤

Emilie is suffering from severe cardiomyopathy and has been for many years. She has been in and out of hospitals. You can imagine that her doctors had many dilemmas when she last year asked about trying Imukin… No one else with FA and cardiomyopathy is taking Imukin, as far as I know. Her cardiologist made thorough research. After many discussions they decided that Emilie would start injections of Imukin. She started last October and the first dose was 10 mcg and injected at the hospital to be able to monitor her for 24 hours. It all went well. Unfortunately she’s had a bit of a hard time adjusting to the medication and she has been having more side effects than noticable effects for a long time. Side effects has been fatigue, muscle aches, nausea, headaches, depression and sleepiness. Hard to stay motivated feeling like this, but she kept going.

Now look at what her mother wrote me:

Emilie was just on her 6 month follow up with her cardiologist and we have some good feedback.

Emilie has been on the verge of giving up on the Imukin injections altogether, but since about one week ago something changed. The experienced side effects faded and the effects started showing. She has grown a lot stronger (and she was already very strong), she finds it easier to stand up, her movements are more controlled and generally everything seems a lot better.

Her heart markers are a lot better. One of them, pBNP, is now completely normal and Troponin T is almost normal. Both of these markers used to be “sky high” on Emilie. They have analyzed her ultrasound images from before starting Imukin with the images taken after 3 months and now after 6 months. The experts are convinced that her heart function has improved, both the systolic function and the diastolic function. In addition they notice that the walls of her heart have slowly grown thinner.
Emilie is about to increase her dosage to 150 mcg now so it will be very exciting to see if the positive trend continues. We are also very excited to see if her scoliosis has improved. She is going to a back clinic at the beginning of June.

Everything is very promising and more people could possibly also benefit from Imukin, maybe even those with cardiomyopathy.

Great news or what? 🙂

If you have any questions please write them below in the comments field. Emilie will help me with the replies 🙂 wmiliw11215906_10153174725867211_445602961_n

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I know I should have updated you for a long time now. The thing is that with more energy there is also much work to be done. I rarely have “sofa-time” anymore like I had a lot of before IFG. So my absence from my blog is a good sign; I’m feeling good! J

Just a quick update for you.

I’ve increased the dose from 100 mcg to 200 mcg and have been taking 200 for about a month now. I take the shot subcutaneously three times per week.

Side effects:

I have less side effects now than I did the first few weeks on 100 mcg. I guess my body adjusted just fine to IFG. What I can experience from time to time now is a light fever and some dry coughing. The fever is rare and often during short periods.  I take a low dose of paracetamol to manage these symptoms if it bothers me. The last two weeks I have started to wake up in the middle of the night being wide awake. I don’t know if it is due to the IFG yet but it might. I don’t have pain or anything, I´m just awake.

I have taking blood samples to monitor the liver, kidney and blood values. So far everything looks excellent.

Effects:

Much more energy! To me it is such a huge difference. For example, before IFG when I visited our clinic, I often have to lie down after half an hour because I was so exhausted. I remember our secretary tucking me in under blankets, getting me water and turn off the lights in the room so that I could relax. I would be so tired when I came home from there that I would tell Morten I couldn’t say another word today cause I was so tired. Well, now I can work in the clinics reception for the whole day! There is so many people walking in and out all day and the phone rings constantly. I can not believe that I actually can do that job again?! It has been a couple of years since the last time I could do that, and it is amazing that I can be a more active part of our business again.

Speech is better, as you can tell from my example above. I have better stability when standing. The mood is better. This is very strange. It changed immediately. I remember thinking to myself when I actually felt in a good mood; “Aren´t you supposed to be depressed?!” It’s weird how a grey cloud is lifted off my shoulders.

There are many more things I can say about improvements but the greatest changes are those above. I will write more about everything else when I have more time.

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I don´t have good illustrations for this blog post, so I give you… my cat! ::P

What haven´t changed:

The high puls is still there. I take the same dose with beta blockers as before. Im still not moving as a ballerina… Ataxia is still there when I walk, though increased energy and stability makes it easier. I might have a little more spasticity in my legs, but I prefer increased tonus than decreased tonus.

Testing:

The frataxing measuring is delayed. This test has never been done in Norway before so the lab is taking it´s time to get the readings right. It might be ready some time during January. I did the FARS scale the 10th. Even though I walked faster, could keep my balance longer, did better on the speech test and suddenly have joint sensitivity, it doesn’t show on the scale. Are you familiar with FARS? It is quite a rough scale. I score a 1 in many of the tests. For example; I can get dressed on my own but I am slower and more clumsy than normal. That is 1 point. 0 is normal and 2 is that I need help. So even though I feel it is easier now it is a long way from being better to being all normal. So in most tests I got the same score as last time; I´m better but FA is still there, of course. The FARS is therefore not a good scale to measure my improvement. I had 49,5 the last time and now I improved by two points. The scale doesn’t have a question about energy or mood, which is quite strange when used for FA patients.

As I left the hospital I thought about how this score made me feel and the thing is, it doesn´t matter for me that the score wasn´t better. I feel so much better and as long as I do that I will keep taking IFG. If the effects stops or if I get bothersome side effects I will stop. As long as it improves my quality of life the money is even worth it. The other side of it all is that it might be easier to get the treatment funded and available for all FA patients if the results would be more measurable. The only thing that really matters is the quality of life, really. It should be the only argument needed. I wonder if my government thinks the same?? We´ll see. I’m impatient. I want you all to be able to test it NOW!

I will try to write more details later and answer questions if you have any. In the mean time I wish you all a really merry Christmas. I know this holiday can be tough for many of us so I really hope you all can find some happiness and joy.

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Cheers! From Miami October 2013.

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The response I got after my last blog post has been overwhelming. No doubt that the FA community is waiting for something positive to happen. I’ve had 1400 visitors on my blog since my last post from all over the world and I’ve gotten so many kind and encouraging words.

bilde-1I did actually consider not to tell you this story about my testing of Imukin. It is scary to be the messenger of hope when the outcome is so uncertain and I might end up being the messenger of false hope. Before I started taking Imukin I had to work this out in my own mind. “It might not have any effect, you might get very disappointed, can you handle that? Then what?” For my own sake it is very clear now that some hope is a billion times better than no hope! It is like my eyes have opened up a bit more and I see a bit further than to the tip of my nose. That’s why I choose to share my story with you at this early moment.

When you read my blog you must remember that I’m not a scientist myself. I know that gamma interferon(IFG) isn’t the cure that we all are waiting for. According to my conversation with Professor Testi, the cure lies years ahead of us still and it will probably be a drug with many different advanced components to repair the complexity of FA. I am 100% sure they will figure it out. I am so happy about all the brilliant minds working to find the cure for FA!

What I have understood about IFG is that it might have the ability to protect our cells and to increase and maintain the levels of frataxin. In theory that means that IFG might work as brakes on the degeneration, at least for a while. Let’s all hope that this is what they find as the research proceeds. If not, I bet they have learned a lot from putting IFG under the microscope that again will lead us closer to the cure.

Before I decided to start the treatment I learned that another person with FA already started taking IFG! I am in direct contact with him and I’m very excited. His name is Lucas, 29 years old from Argentina. He has been taking 100 micrograms of Imukin three times per week for a whole year now! His FARS scale has improved 10,5 points since before he started the treatment and he is also so happy about the difference. The changes he notices the most are that he has a better posture, which makes his breathing better and his speech easier. He also improved in strength. For instance it is easier for him to hold a glass compared to before.

Both Lucas and I are fascinated and thrilled with the changes that came with taking the Imukin injections. How long will it last? Will all FA-ers experience a difference? Does it have any side effects? There are so many questions left to answer. What our bodies actually are reacting to is up to the scientists to figure out. We are looking forward to the future research with excitement! If you are going to Philadelphia on Monday for The Sixth Annual Friedreich’s Ataxia Symposium you will hear Professor Testi talking about his research live. I’m looking forward to hear all the speeches on the Internet. I guess there will be live streams available?

My own words in arabic… how cool!

The president of the Babel family, Mr Gian Piero Sommaruga, contacted me after my last blog post to ask if it was ok if they translated my post to different languages. Of course it is! This is the Babel family: BabelFAmily is  non-profit organization headquartered in Spain (CIF: G-85711513). We are a worldwide group of volunteers that unite our skills to support the greater FA community of patients, doctors, researchers, scientists and associations in their mission to find treatments and a cure for Friedreich’s ataxia.” If you haven’t seen their web page yet you should check it out immediately.

Here is the web page: http://www.babelfamily.org/en/

Here is an interview they made with “my” professor: http://www.babelfamily.org/en/latestataxianews/876-interview-with-dr-roberto-testi

There are still so many thoughts I have about all this. I will try to break it down into smaller posts rather than writing one gigantic one. Also you should read the comments made by others on my latest post. We have some discussions there that might be interesting for others to read.

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I just saw this fantastic facebook page yesterday. On this page you can se many people, and even animals, flexing their muscles. Men, women, old, young and even babies. This page is created by 15-year-old Jai from Australia who has friedreich’s ataxia and his family. They started this fundraising campaign to raise money for research and to create awareness for this horrible illness that has no treatment!

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Click on this picture to enter the facebook page.

This sunday Jai is going to swim the Cole Classic, Australia’s largest ocean swim. The Cole Classic is held at Manly Beach right outside Sidney. I have actually been in Manly once, in 2007. What a fantastic place to be! I wasn’t diagnosed back then and I just now remember that Morten and I studied my footprints in the sand as we had a walk on the gorgeous beach. Morten pointed down to my footprint and said: “Weird… You don’t lift your big toes properly as you step forward…!” At that time FA had started sneaking up on me and my footprints on Manly Beach showed us one of the first signs.

Jai has raised about $20 260 AUD until now. That equals kr.115 322,59 NOK and $21 058,10 USD. All this money goes to FA research! Great job! He challenges you to flex your muscles to show your support, to share his facebook page with others and to donate money if you have the opportunity to. FA is such a rare illness and the research is depending on donations to keep pushing forward to find a cure.

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What a great opportunity to flex some muscle and share it with the world… 😉

In Norway we don’t have the same tradition in running fundraisers. I wonder why not, since they are such great and meaningful events. The good news is that no matter where we live, it is easy to support the fundraisers all around the world. You can just click your way onto their web page and donate using your visa or mastercard! So easy!

Any amount is fantastic. 1 dollar – 10 – 20… If you would like to support our fight for finding a cure for FA, your support will be so very much appreciated! This is where you enter to donate: https://secure4.everydayhero.com.au/LendUsSomeMuscle/donate

They have made this amazing video to show what this campaign is all about. You should see it. The video is here: 

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