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PERSÖNLICHE GESCHICHTE VON MUSCLE GSD

MEINE TARUI-KRANKHEITSREISE

Mein Name ist Susan, ich bin 59 Jahre alt und habe GSD7, auch bekannt als Tarui-Krankheit. Im Alter von 34 Jahren wurde ich in der Mayo-Klinik durch Muskelbiopsie diagnostiziert.
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Name: Feike Dirks

Country: Netherlands

GSD: McArdle’s (GSD5)

Diagnosed at age: 60

Age at writing: 63

Date: 12/2021

Als ich den Anruf von der Mayo-Klinik erhielt, wurde mir gesagt, dass ich eine seltene Krankheit namens Phosphofructokinase-Mangel habe. Die Ärzte wussten nicht viel über die Krankheit, außer dass mir das Enzym fehlt, das Glukose zur Energiegewinnung abbaut. Sie sagten, dass vielleicht 50 Menschen auf der Welt es hatten (es gibt immer noch nur etwa 100 bis 200 diagnostizierte Fälle weltweit), und ich sollte eine proteinreiche Diät versuchen, um die Symptome zu lindern. Sie wünschten mir viel Glück und das war das Ende davon.

 

Also begann meine Suche, mehr über meine mysteriöse Krankheit herauszufinden.

 

Muskelschmerzen und Müdigkeit im Kindesalter

Als Kind war ich ständig von Muskelschmerzen und Müdigkeit geplagt; "Wachsende Schmerzen" wurde mir ständig gesagt. Ich hatte Probleme, mit meinen Freunden Schritt zu halten, egal ob es sich um Gehen, Fahrradfahren, Rollschuhlaufen oder irgendetwas anderes im Zusammenhang mit Ausdauer handelte. Sport war ein Albtraum, besonders in der 6. und 7. Klasse. Ich hatte einen grausamen Sportlehrer, der mir immer sagte, ich sei faul und außer Form. Ich war der einzige, der den Presidential Physical Fitness Test nicht bestanden hat.

Im Gegensatz zu anderen GSD-Patienten wurde bei mir in meinen 20ern auch eine Autoimmunerkrankung diagnostiziert, die dazu führte, dass sich meine Muskeln und Gelenke extrem entzündeten. Das hat das Bild für mich verwirrt.

Als Hypochonder bezeichnet

In meiner Familie nannte mich meine Oma einen Hypochonder und sagte mir, ich solle mich nicht über meine „wachsenden Schmerzen“ beschweren. Niemand nahm mich ernst, selbst als sie sahen, wie ich mich bemühte, mitzuhalten, wenn wir irgendwohin gingen. Als ich fiel, weil meine Beine nachgaben, sagten sie, ich sei ein Klutz! Ich schwieg und sagte kein Wort darüber, wie ich mich fühlte.

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Mein erstes Treffen mit einer anderen GSD-Person - Jeremy Michelson, GSD7, in Wales.

The 2019 Walking Course

How do you get rid of all kinds of bad habits or expectations and develop good new ones? Medical professionals and fellow sufferers can help you with this. Because it is such a rare disease, you soon look across the border in the search for that kind of help. IamGSD was quickly found.

 

One of the activities of IamGSD is the McArdle walking course, documented on iamgsd.org. In 2019, a year after my diagnosis, I participated in this course. It was held in beautiful Pembrokeshire in South Wales, close to the coast. Thirteen fellow McArdlites participated in the course, most from Scotland, Wales and England, but also from the Netherlands (yours truly), Germany, Australia and the United States. The lead was in the hands of Andrew Wakelin.

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Mein erstes Treffen mit einer anderen GSD-Person - Jeremy Michelson, GSD7, in Wales.

The course mainly consists of a daily walk of between 8 and 15 kilometers. During the walk there are instruction moments about the best way to approach such a walk from a McArdle perspective. Several exit points in the walk are intended for those who don’t feel up to finishing the walk. The pace during the walk is McArdle-friendly, and there is certainly no question of a marching pace. Attention is paid to technique, for example the use of walking sticks to distribute the scarce muscle power between arms and legs. Also, the managing of slopes and descents is discussed (zig-zag techniques) and the application of all kinds of typical McArdle mantras (memory aids). One of those mantras is: thirty-for-eighty: If your muscles are out of energy (a McArdle characteristic) you need to rest for at least 30 seconds to get 80% of the immediate energy back in your legs. Then you can continue for a while. On a steep slope or a long stretch such a mantra regularly buzzes through the group. One of the course rules is that if someone needs 30 seconds of rest the whole group will stop and “not talk about it”. Every McArdler knows what it is like to feel guilty when you stop the group you walk with (e.g., family, friends, work colleagues) because you can't go on.

 

A lot of attention is paid to using “second-wind”. That is the situation in which fat burning takes over the energy supply from carbohydrate burning (you simply cannot hardly have with McArdle). That way you learn that sometimes you can handle more than you thought beforehand.

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Mein erstes Treffen mit einer anderen GSD-Person - Jeremy Michelson, GSD7, in Wales.

Still, during a few walks I had to opt out halfway. That's not a fun experience (“I can’t even keep up with my fellow McArdlites”), but a useful one! That way you learn to better respect your own limits. Those limits differ from person to person in people with McArdle’s, due to things like age, other medical issues, and the time of your life that you were diagnosed.

 

In the evening sometimes there is a chat from an expert. And there is plenty of time for mutual exchange of experiences and normal conviviality among McArdlites. This part was of great value to me because you don't talk to a fellow McArdler that often. There was a lot of recognition, in big things (life choices) but also in small things ("Who can climb a rope?" Wide grins: "Nobody!"). Experiences with all kinds of diets, doctors, therapists, or social services were exchanged and there was always something of interest to think about. But you also see the differences, for example due to additional illnesses that someone has or due to a different organization of care in a country.

 

You won’t forget a week like this. Especially the recognition in fellow McArdlites is something from which you can derive permanent support. One moment will always stay with me: after a trip to an island off the coast, our boat came back to the coast during low tide and landed on the beach because the tide was out and the harbour empty. So, our group had to walk about 150 metres through the loose sand to street level. You can’t do that all at once with McArdle. So, our entire group walked about 25 metres, stood still chatting (“30 for 80”) and after half a minute walked on again. That repeated itself several times. It must have been a strange sight to the other people on the beach. But we didn't care, we got there our own way!

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Mein erstes Treffen mit einer anderen GSD-Person - Jeremy Michelson, GSD7, in Wales.

And now, is re-inventing complete?

 

The bulk of my walking and stability problems have not gone away. But now I know better what their cause is and how I can prevent worsening of the problems. It is therefore easier to live with. My wife and I have a couple of (voluntary) exercise sessions each week. Twice a week we make a bike tour of 15 – 25km. The e-bike is ideal because you regulate the support the ebike-motor gives you: the first minutes you let him work harder than later in the ride. We only skip these rides when there is dangerous weather (icy road, thunderstorm). Whenever I must do some shopping in town, I use the ebike (and not the car).

 

I have a one-hour physiotherapy session every week where special attention is paid to stability in walking, sitting down/standing up, and stair-climbing. These therapy sessions always start with an ebike ride (to the physiotherapy clinic), a treadmill walk, and a hand-cycle session to get as much of me as possible into “second-wind”.

 

I try to maintain a good balance between activities at home (reading, making music) and activities outside home (again making music, visiting people or places). This overall process of re-inventing my life is ongoing. The recent pandemic proved that once more.

 

Early diagnosis is vital

 

I am convinced that if people know they have McArdle’s earlier in life they can make reasonable and good adjustments in the way they approach activity, exercise, work, and life itself so they can prevent bigger muscle problems.

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