Female patient, 50 years old

We assume that our feeling is the same as that of the “normal” population!

Above all, when relatives, such as great-grandmother, grandmother, mother and aunt have or had similar feelings and whose life was therefore also correspondingly restricted.

That was the case with me.

It started harmlessly with a stomach ache. When I was 9 years old, I had severe migraine attacks with nausea and vomiting.

My back and joints have bothered me since first grade. This accompanies me like inflammation of the renal pelvis, bladder, tonsils, paranasal sinuses, bursa, facial nerve, and suppuration of the abdominal cavity.

In addition, there were intestinal problems, hemorrhoids and constipation as well as shooting pains, e.g. if the bladder pressure was too high, the pain radiated into the abdomen or the pelvic floor.

Due to the severe pain, I can only have intestinal examinations done with anesthesia, like my mother did.

The back, shoulder and front torso is tight as if matted, painful as if tied.

Legs twitch and cramp. The joints hurt.

Hands and feet change Dupuytren’s disease and Morbus Lederhose are the technical terms for the pathological changes in the connective tissue. This leads to an increased formation of knotty and cord-like connective tissue and to deformation. These knots and strands are palpable under the skin and continue to thicken. As a result, the affected fingers bend into a bent position towards your palm and fine motor skills are lost.

My feet are often numb and I have sharp pains in my heel.

But the worst thing is the fatigue, which comes on suddenly and usually lasts for three days or more. There are also concentration problems. Things that you could always remember are not available for the moment. Mental exhaustion.

With a higher load, my physical capacity cannot be increased or built up, but confronts me with sudden exhaustion.

The nights are exhausting, because I often have to move, because pain sets in after lying in one place for too long. Or standing or sitting during the day. Everything in moderation!

The cold and changes in the weather, as well as the heat and excessive exposure to the sun, long conversations, stress and alcohol lead to pain or exhaustion

All of this was part of my learning process, that it’s not “normal” and that I want to take care of myself. This is the only way I can avoid (if possible) what is not good for me.

My female ancestors didn’t have the knowledge or help I have today. It’s important to take good care of yourself to endure bad days.

This is my personal medical history. My many miscarriages and thyroid disease aside, I am D313Y and leave open how everything is related to my mutation.

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