Posts Tagged ‘friedrichs ataxia’

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.




“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.
This picture is borrowed from FARA @curefa_org on instagram. Go follow them 🙂

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Hi everybody,

Sorry for being such a rubbish blogger lately. I just wanted to let you know that I am all good. Imukin is working excellent (my initial improvements have remained stable for over a year now), my blood tests are normal and there is no sign of side effects. Can you believe it has been almost two years since I took my first Imukin injection?!


Pictures from today 🙂


Just as we started rowing the rain came… It´s still gorgous!

Hope you are having a great summer! 🙂 Follow me on instagram if you´d like; gdog78x

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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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