Meanwhile in Imukin-land

Just me again… Ranting about Imukin as usual 😛

So a pandemic just happened and making research on FA move even slower than before. Our patience have been tested in many ways this year, but if you have FA you are in hurry for real. No lockdown, one meter rule, face mask or antibac can keep us safe from the progressive force of FA.

I’m lucky to have Imukin while all this is going on,

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The kiss of death

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.

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Cardiomyopathy and Imukin – promising news!

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.

Beauty, 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 🙂

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The phase 2 results are out. Exciting!

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;

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.

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.

 

Finally a comment about my own FARS score. I started taking Imukin the 27^th of August 2013. My FARS at baseline was 47,5. When I re-tested the 10^th 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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Update, finally!

This is about time! Since you haven’t heard from me for a long while you must be wondering what’s going on, especially with my very own Imukin testing?

I am still on 200 micrograms three days a week. In the middle of February we decided to reduce the dose to 100 mcg for a while. I wanted to see for myself if 200 mcg was really necessary to keep up my improvements. If I could stay on 100 mcg I would save a lot of money, so I wanted to try it. The reaction came very soon and I started to feel worse just after a few days. After four weeks I gave up. At that time I had no energy, mood was very flat, I lost tonus in my muscle, got slurred speech again, lost coordination and balance, had bad standing stability and breathing felt more exhausting. My FA started to feel like it did in August 2013. I started taking Imukin 27^th of August 2013, so at that time I was at my worst ever.

Conclusion was; I need to get back up on 200 mcg again so I can get my life back! So I did and of course I expected to feel better immediately, just like I did after I took my first shot in 2013. That didn’t happen… That was very scary! Did I ruin everything by reducing the dose in the first place? Had my tolerance to Imukin gotten so high that it wouldn’t give me a good effect anymore? Oh, the thoughts I had there for a while…

After about three weeks on 200 mcg I started to notice the positive changes. First came energy and mood, then stability, muscle tone, coordination and then finally speech. How happy I was when my speech got better again! Having slurred speech makes your personality trapped somehow. Hard to explain but those of you that have dysarthria know what I mean…

My walking is still not a pretty sight and I am very far from being cured. The thing is that I feel so much better with the slight improvement of every symptom that I now have quality of life. That is so important!

I have no frataxin results for you yet. It takes time, I know…

I’m about to apply for government funding for Imukin. Very curious about how they will respond to my application. One would expect that a medication that can keep a young person (yes, you heard me J) at work + increases the quality of life by 100%, would automatically be refunded regardless of scientific evidence?

My experience with Imukin is so positive that I will keep taking it for as long as it gives me effect and I will keep paying for it myself if I have to.

At this moment we are three people in Norway taking Imukin for FA. It is a 14 year old girl, my sister (33) and me. The two others also feel improvements… exciting right.

From last week. Todays it’s snowing!

 

It’s all good 🙂

 

 

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A quick Imukin update

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.

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.

Cheers! From Miami October 2013.

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Comments and translations

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.

I 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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Interferon gamma

It has been months since my last blog post. So much has been going on and I have been waiting a while to tell you some very interesting news. Since last summer I’ve been in touch with Prof. Roberto Testi who is chair of Immunology
Department of Biomedicine and Prevention Rare Disease Section 
School of Medicine
 University of Rome “Tor Vergata”.

I saw his article “Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model” and contacted him right away to get more additional info. Every research that shows an increase in frataxin protein levels is veeeeery interesting to me, and there is so much high tech research going on at the moment. What caught my immediate interest with this particular research is that interferon gamma is already an approved medication. The indication for using this medication is something completely different than friedreich’s ataxia, but it is there! It has already been tested for safety and side effects on humans.

I’m not a very patient person. As soon as I read this article I decided that if there is any way that I can try this treatment today, I would do just that. A year passed… I’ve had discussions with doctors, family and friends about risks, side effects, cost… In May this year Morten and I flew to Rome for a meeting with Testi at his research lab. We had a very good and informative meeting with the professor and met some of his co-workers. Back in Norway the discussions continued and finally we made the decision; Let the treatment begin!

Big hope in a tiny bottle… 

Before I started I had a FARS scale done and blood samples taken to measure my levels of frataxin. This was done by my neurologists. One of my doctors prescribed the medication (called Imukin here in Norway) and my mother who is a nurse taught us how to do the injections subcutaneously. The dosage is 100 micrograms three times per week.

I took the first shot 27^th of August. I had some flulike symptoms after one hour with some chills and almost feverish feeling in my head. I also had some muscle aches. The side effects were so insignificant that I fell asleep and woke up the next morning feeling just fine. The side effects after the injections then became weaker after a week or two and now there are almost no reaction at all.

I felt better already the first day. Family and friends told me they could hear that I spoke better.  Then I started realizing that I had more stability when I was standing and walking. I could brush my teeth standing up without supporting myself on the sink or I could make dinner standing up without needing a chair to sit on. Then came the energy. That is the most remarkable difference. I used to feel so tired all day every day. Now I have energy! It’s like I finally figured out how to change my empty batteries. Other things that feels better; walking up and down the stairs, swimming, breathing (!) and turning around in bed.

Both my sisters are witnessing the first injection live via skype! 

Ok, it could all have been placebo. My mind is quite motivated for me to get better. The first few weeks I didn’t dare to talk so much to others about how I felt. Six weeks later I’m beginning to let myself believe it is more than placebo. Don’t get me wrong, I really love placebo and find it very fascinating, but we would all love it so much if there were anything out there that could put on the breaks on the monster, friedreich’s ataxia, long term.

Since the beginning I’ve felt gradually better. I felt a bit up and down for the first few weeks but then I’ve just felt better. So what is it by Imukin that makes me feel better? Is it the increase in frataxin protein or is it the direct effect that interferon gamma has on the neurons? Will I continue getting better, will I get back to “normal” again after a while, are there any risks I can get serious side effects later, how large dose should I take and for how long…?  Is the Imukin actually fixing something or just putting on the brakes for a while? Is it all in my head?There are so many unanswered questions at the moment. No one knows, yet. Testi and his lab of researchers in Rome is doing research on this as we speak and also there is one trial coming up in the US on interferon gamma.

I’ve had one drawback so far. Last Friday I had a two hours thai massage…  I thought that sounded lovely. Apparently that was too much for the system to handle. Within one hour after the massage I fell all the way back to the time before I started on Imukin. At least it felt that way; I had slurred speech like a drunk, had so much ataxia that Morten needed to support me when I walked even indoors and I felt totally out of energy. I was heartbroken. Is this how it really should be like? Was everything ruined just now? It took me three days to get better and yesterday I was all good again. What a relief!!

Feeling better raises so many new thoughts in my head. You know, I’ve realized by now that I wont get better, but only worse. The Gunnhild that I had a year  ago is gone and will never come back. Then I start getting better and I get a taste of hope and dreams again. Amazing and so incredibly scary at the same time! Interferon gamma as a treatment for FA can be many years ahead of us still. The research is following a strict protocol to get the medication approved for the treatment of FA patients. When (if) that day comes in Norway it means we will not have to pay for it ourselves. By now I pay for everything myself.

The nurse is ready, the sisters are ready and I am ready…let’s go!

In December will have another FARS scale done by my neurologists and also a new blood sample to measure frataxin. This is so exciting! I guess it dosn’t matter so much to the doctors I say that I feel better. They like much more to use objective measurements. Fingers crossed everybody! If they can’t measure any changes by then and if the research done in Italy and USA doesn’t lead anywhere I still have learned a lot from this experience.

Meanwhile waiting for the cure to come there should be put some effort in finding some treatment that aims to increase the energy levels in FA patients. Everything gets easier to handle with some energy. Maybe it could be EPO, steroids, Imukin…. Just find us something!  (Certain sports communities knows all about this I guess…)

There are so many things to discuss about this subject. I have many thoughts and maybe others have questions? Have others tried interferon gamma and can share your own experiences with me? This blog post is already getting very long so let’s end this one here.

Finally, I just have to say how much I admire and love all of those who raise money and awareness for FA out there and all the incredible researchers who are using their brilliant minds and knowledge to find a treatment for FA. Without having met you, still you are some of the most important people in my life!! Thank you!

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Lend Us Some Muscle

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!

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.

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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Regular jogging shows dramatic increase in life expectancy

I just read about this huge danish study where about 20 000 people attended since 1976.

“Analysis showed that risk of death was reduced by 44% for male joggers (age-adjusted hazard ratio 0.56) and 44% for female joggers (age-adjusted hazard ratio 0.56). Furthermore the data showed jogging produced an age adjusted survival benefit of 6.2 years in men and 5.6 years in women.”

The good thing is:

• The tempo is moderate.“You should aim to feel a little breathless, but not very breathless.”
• The the duration is between 1 to 2,5 hours in total per week!

The bad thing is:

• I can’t jog!!

Water is a life saver…

My sister demonstrates

In water I can jog. If you can’t jog in water either, maybe you can start with taking steps, walk, you can hold on to the rail, hold on to another person and for sure be able to get a little breathless.

“Jogging, said Schnohr, delivers multiple health benefits. It improves oxygen uptake, increases insulin sensitivity, improves lipid profiles (raising HDL and lowering triglycerides), lowers blood pressure, reduces platelet aggregation, increases fibrinolytic activity, improves cardiac function, bone density, immune function, reduces inflammation markers, prevents obesity, and improves psychological function. “The improved psychological wellbeing may be down to fact that people have more social interactions when they’re out jogging,” said Schnohr.”

More about the study HERE.

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