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Archive for the ‘My thoughts’ Category

In late september there is an international ataxia conference in Pisa, Italy. This is hosted by Ataxia UK, GoFar and FARA. I have seen posts on Instagram and Facebook asking for feedback from patients on what abilities we have lost that we would like to get back. Are there any symptoms we have that the researchers don’t know about and so on.  Good. Future research must not miss out on improvements because they are not aware of a symptom.

 

I was too late to send my replies, but I will answer this here instead. However I will turn it around a little bit.

 

Let me tell about two symptoms that I lost that made me understand how important they are to get rid of.

 

I have always been a very happy person with lots of energy. As FA developed I got more and more fatigued and depressed.

 

Fatigue is not just being tired. It is being so exhausted and wasted it´s hard to move, to speak, to smile, to breathe… During the last few years before i started taking Imukin i developed my own short words, like easy “commands” to tell Morten what I needed.  If I went somewhere one day I would have to plan that I would be fatigued the rest of the day and the next. I would ask my family not to talk to me cause I was to exhausted to answer. I would say “I’m not angry. I’m just not physically able to smile.

 

So to the depression. My own definition of depression would be that it is a deep deep sorrow. Sorrow for the life I lost, for all the things I would not be able to do. It’s about not wanting to live anymore, not having any hope, refusing to to talk about the future and lots lots of crying. Not just tears but like real loud deep desperate sobs. Almost every day. 

 

It is really hard for me to write this because it really was hell, and I feel so sorry for everyone who struggle with these things. With or without FA.

 

Four years ago this got almost unbearable. But in August I started taking Imukin shots. And within a few months these two symptoms (devils) left. Among with many more. I remember saying to my doctor; “If this is placebo, I love placebo!”

 

Everything in life gets easier without fatigue and depression;

 

Easier to talk

Easier to walk

Easier to have a life, be social, laugh and have fun

Easier to handle adversity

Easier to be married 😛

 

I would not trade fatigue for balance

I would not trade depression for coordination

 

If you asked me back then what abilities I would like to get back first of all it would have been balance and coordination. See what happend?

 

I often feel people undermine energy and depression as a positive outcome of a treatment. “Yes yes, but apart from energy, what have you gained…?” people ask me. I understand that it is logic to think “If she can walk better she will be happy again.”

Not necessarily. 

 

If you are fatigued and depressed it is very hard to live. There is no way around it.  Any study for treatment should measure these symptoms thoroughly. Treatments should also aim at targeting these symptoms.

 

Even though I still have FA; (I still walk with support, I struggle a bit with speech, I choke on food sometimes, I prefer to use a wheel chair for distances) I am busy living now days. FA is not dictating my life anymore. I have Imukin to thank for that.

 

Don’t be scared when you see this photo of me below. This is what hours of crying does to my face. I looked like this many times a week. It was dated 19.07.13. I found it on my computer a few years ago and decided to keep it as a reminder. It is not a nice memory to keep, but I never want to forget on behalf of everybody struggling with these things and how important it is to find a treatment. To find help.

 

FA seems to be very individual when it comes to symptoms and progression. Treatments will probably give different individual benefits as well. It is not like you are guaranteed to get energy back because you take Imukin. From what I’ve heard about 30 % might not have any benefits at all, but if that is the case there is as much as 70 % that could benefit from it. I feel really lucky that it worked like that for me. Some times I feel like I should not talk out loud about Imukin as it is deeply unfair that it’s not available for everyone. Still I just have to say something.

I asked the others taking Imukin here in Norway about updates:

Two of the girls have improved their hearts! Heart markers are getting back to normal and the heart walls are getting better. The ones still in school say that they are able to participate in all activities at school, they have more energy, coordination and fine motor skills.

The majority of them is taking 200 mcg.

 

Finally, I know that FA can be much more severe then what I am experiencing. I also know there are many people like me, with late onset FA. Some will not relate at all and some might. What I share is my own experience. Hope it can help for something 🙂

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Below I have collected some of the feedback I’ve got from people taking interferon gamma (Actimmune/Imukin) These improvements  can not be measured with the FARS scale, from what I can recall. I wanted to post this to show why the FARS scale alone should not be the only measure to decide if a drug has effect for FA or not.

We can not afford that these effects are not taken into consideration! Please find a way to measure this.

(If you have any more affects like these, please please please write me a comment so I can update the list. If we want changes, we need to say something)

 

pes cavus snu

Before Imukin

etter pes cavus 1

After 7-8 months on Imukin

  • I feel stronger.
  • I can be active for longer.
  • I don’t have depression anymore.
  • I can navigate around obstacles with more ease.
  • I have less ataxia in my hands and arms.
  • I can hear my daughter singing in her room. She haven’t done that in many years.
  • I don’t have rush incontinence anymore.
  • She can hold the glass and drink from it without support. She was to shaky before.
  • He has been able to maintain his employment where he has to walk a fair amount of the day.
  • He can now pick up a pencil from the table.
  • Heart markers have improved significally. They used to be sky high, now, one is normal, the other one almost normal.
  • No more chestpain, nor hospitalization.
  • Almost no falls since I’ve started
  • Much more energy
  • I don’t have fatigue anymore.
  • I don’t have sleep apnea anymore
  • She went from constantly being too exhausted to go to school prior to Actimmune to missing almost no school after she was on this.
  • Her handwriting has improved a lot.
  • Less difficulty opening or closing with the key the door of our house.
  • She can now cut the cake and pour water into the glass with no difficulty.
  • Her icecold feet got warmer and normal color.
  • She was sceduled for an operation to lenghten the tendons under her feet to reduce the pes cavus, but after using Imukin for 7-8 months the spasticity almost ceased completely.
  • I haven’t had any reflux since I started the treatment.
  • Her hammertoes disappeared. Her toes and feet are now almost normal.
  • Heart hypertrophy without progress since she is on this treatment.
  • Scoliosis has improvement in curve.
  • My breathing got much better. Before the treatment it was really heavy. Like I had to make every breath manually.
  • My grasping and sensibility are increased.
  • My swallow and eating also improved.
  • It is easier to button my shirt. I am still clumsy but it goes easier and faster.
  • Touching her feet before triggered an overreaction and spasticity. To cut her nails was a disaster. The overreaction almost disappeared. You can touch the feet and cut the nails very much easier.

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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.
friedreichs-ataxia-research
This picture is borrowed from FARA @curefa_org on instagram. Go follow them 🙂

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Quick update

Yes I am here and everything is good 🙂

It has been very long since my last blog post and the reason is:

IMG_3221

I’ve had som surgery done to my face… No! Just kidding! Who else love snap?? 😀

The reason is WORK. This last year has been quite stressful and busy so I can’t seem to find the time to update my blog.

I am still taking 250 mcg of Imukin. I have taken this dosage for a year now. My blood tests are completely normal and I have no side effects. Despite the stressful times this past year I never seem to get exhausted like I used to before Imukin. I have been sitting and typing on my computer with not much exercise for a very long time and that makes me stiff and sore, and my walking is not great at the moment so;

My goal in the very near future is to work less, rest more and exercise. Anyone else? 😉

IMG_3227

This is basically what I’ve been doing since my last update 🙂

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I have been taking my Imukin injections since August 2013. Many people want to know how my walking is now. Often the relatives are very focused on that. When I tell them my walking is not better, but I have great effect of the medication, I often feel their disappointment. If the walking isn’t any better there is no effect??

 

It is impossible to understand how horrible FA is if you are not experiencing it. Let me show you how I can claim with all my heart how much I have improved:

 

Energy!

I used to be so exhausted all the time I had to lie on the couch most of the day. If I had a meeting planned one day I had to rest up before going and then I needed to schedule the rest of the day and maybe the next 1-2 days for resting. I would be so exhausted that first evening that I wouldn’t have energy to smile or talk. It was here that I developed my one-word sentences. Just one world would explain to Morten what I needed.

 

Now I talk so much that Morten sometimes reminds me “You should not use so many words. You have dysarthria remember!” LOL! I work full time. I come home from a meeting and I go straight to work. I hardly know where my couch is anymore!

old office

A picture of my old office… and my assistant 😀

Dysarthria

You can tell from my example above that it has improved J It is easier to be spontaneous in a conversation. That is an enormous social benefit…

 

Depression

Disappeared after one week. Depression can often be symptom of FA, not just caused by the situation. Next to energy this effect is one of my favourite effects! Everything is easier to handle when you are happy!

 

Stability/ coordination

FA destroys the muscle coordination that gives all your joints stability and function to make you move and to fight the gravity. It used to be painful and difficult to stand. Gravity was too much to handle for my body and feet, ankles, knees and back would kind of collapse. I always sat on a chair while cooking. Now standing is not a problem. I never use a chair while cooking anymore. I have less back pain.

 

Breathing

It didn’t have enough air. At least it felt like that. It felt like I had to think about how I was breathing to make it right and I was sighing all the time. My chest was not moving so I had to force the chest to be a part of the breathing. Now I don’t think about breathing anymore. That is how it should be, right?

 

Walking down the stairs

So much easier now since the muscles seems to be more flexible.

 

Increased sensibility

I used to step on my own toes 1-2 times per week. Really painful but I did not have sensibility in my toes so I thought they were stretched out when they weren’t. I haven’t stepped on my toes since august 2013.

 

Falling

I have not been falling once since august 2013.

 

EKG

I used to have a T-inversion on my EKG. After one year on Imukin my EKG was normal.

 

As you can see there are so many other things that go wrong with FA than just the walking. Until the cure gets here I am so happy that Imukin gives me quality of life by improving so many of my symptoms. It is not easy to live inside a body set for self-destruction… A relief of symptoms makes a great difference! If Imukin works in my body like it has been proved in the early lab studies, my nerves are protected from degeneration as we speak. How amazing is that?! So doctors… why wait?

 

 

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“Thinking Out Loud”

When your legs don’t work like they used to before
And I can’t sweep you off of your feet

I usually listen more to the melody than to the lyrics in a song. However when this song plays on the radio it has always felt like Ed Sheeran is talking to me, but I have never really listened to him. Today I listened to him and I am sure that Ed is actually talking to me. To us.

His song is about how he will still love his girl when they are old and their health is weak. Most people think that poor health will come eventually. When we are old.

Then life happens…

Your legs might stop working before you are 20, the hair might be gone before you are 40 and the memory might fade before you are 50…

Many people have to face these challenges to early in life. Yet the boyfriends, girlfriends, husbands and wives stay, love and support. You are true heroes! You all amaze me and you deserve all the cred in the world!

Let us dedicate this song to the amazing people who see us for who we really are ❤

 

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Today I had an experience that broke something within me and really opened my eyes. I am not going to name any names or point fingers cause people are just doing their jobs and have to make hard decisions. Since this meeting I’ve had so many thoughts in my head that I could have written 100 blog posts about it or perhaps a book?

I might tell this story later, but until I’m ready I just have to say this:

Today I felt mistrusted for being to happy and excited. Excited about how I have been able to adjust to the fact that I have a degenerative and life shortening disorder…

I have turned my life up side down, facilitated, rebuilt, mind gamed myself, created new opportunities, mind gamed myself some more and found new paths around barriers. I have kissed my old life goodbye with great great sorrow and adjusted to my new life. I have done my very best to survive and I am very proud of it. Problem is that the “system” do not recognize how a happy face can be seriously ill and in need of help…

So you smile = you don’t need help? Is this really how it works?

A friend of mine posted this quote on her facebook page a few years ago and I have thought of it all day. It really says it all. Strength does not mean that there isn’t weakness beneath. It is a good survival skill and it takes a lot of work.

To all out there struggling with illnesses, physical or mental, I applaud your strength! I really hope you are ok and that you get the help and support that you need and deserve ❤

lionstrong

 

Ps: This has nothing to do with Imukin, just for the record 🙂

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