Female Patient 65 years, D313Y

Treated with anti-rheumatic drugs and painkillers for 12 years before Galafold therapy.

Status before taking Galafold – and status after one year of taking Galafold (start of therapy February 2021)

1. Severe abdominal pain for years – especially an enormous bloated stomach, altered excretions, nausea, intolerance to many foods, cramps in the rectum. Body weight loss of 12 kg in the last year before starting Galafold therapy 

From the 3rd month after the start of therapy, the abdominal symptoms improved significantly, weight gain 5 kg.

2. In the last three years before starting therapy with Galafold, I increasingly had tingling attacks in my legs, then all over my body with involuntary twitching of my legs, and had pain conditions that could not be attributed to the rheumatic disease. As early as 2015, the first terrible attacks of pain in the entire thorax occurred during rheumatic therapy, which could not be clearly clarified. Before the start of therapy with Galafold, there were horrible attacks of pain (at rest) of the highest pain intensity, with sudden stabbing, pulling, tingling, burning to glowing pain in the chest, back, shoulders, costal arches (entire thorax), along the arms, along the finger bones, on the pelvis, along the legs, on the hands and feet. Pain, like “along the bones, on the skin,” with tightening of muscles.

These attacks came at increasingly shorter intervals, lasted for several hours, subsided and came back again – before the start of therapy with Galafold – up to four times a day in 24 hours – particularly severe in the evening and at night. At times I was no longer able to prepare meals, write, hold the phone, hold up the newspaper, stand without shoes, had severe sleep disorders, fled from the bed – lying down was painful. Any vibration, e.g. driving a car, led to pain.

First, my condition improved about 5 months after starting treatment with Galafold, in that I had no pain for hours a day.

Today – after 1 year with Galafold – neuropathic pain attacks still occur, but no longer to this terrible extent and no longer in such high pain intensity, no longer daily/nightly. Rather, it is triggered by unfavorable factors such as weather conditions, stress with pressure/traction forces, excessive physical/mental stress.

Attacks still occur today in the evening/at night, with electrifying skin tingling all over the body, with excruciating pain when touching the body and hands.

Pain when touching the alveolar ridges of the teeth in the lower jaw – stinging, as if with the finest needles when brushing teeth, had existed for about 12 months before the start of therapy. The pinprick sensation has now completely subsided, there is still pressure sensitivity.

3. Existing furryness in the front feet has decreased somewhat, numbness on the soles of the feet – walking as if on cotton wool – have remained.

 Fine motor skills/function of the hands and feet are impaired.

4. Pre-existing migraine attacks had increased sharply in recent years. Neuropathic pain attacks experienced migraine attacks for up to 9 days in a row. Immediately prior to the start of therapy with Galafold, they always occurred in connection with stabbing chest pain.

Without the stabbing chest pain, I still get migraines – about 1-2 days a month. There are also months without a seizure. So much rarer and less intensive.

5. In the winter months, severe symptoms occurred with temperature fluctuations. It comes to weeks of persistent chills with ice-cold extremities – without a recognizable infection – even in a warm bed. Every day there are shooting burning hand, foot and leg pains, severe redness and swelling – quite regularly and particularly severe in the evening/at night – these last for a few hours. If you stay in very cold weather, your hands and feet will become discolored, similar to Raynaud’s syndrome.

It comes to ice-cold legs for hours in bed, with a simultaneous feeling of heat in the head.

There is nerve damage – small fiber neuropathy.

Now that the temperatures are more like summer, these symptoms have subsided, but there is a tendency to cool down quickly and to feel hot quickly when there is too much heat (excessive heat, standing heat in bed, car and indoors, too warm, tight clothing).

Staying too long in great heat quickly leads to a strong feeling of overheating, which results in severe exhaustion and swelling of the hands with pain.

It remains to be seen how this develops.

6. Before starting therapy, I was suffering from severe exhaustion.

I often felt very ill and exhausted to the core, had to cancel appointments and meetings. I was no longer able to cope with normal everyday life, had to give up walks because of physical weakness, could walk poorly at times, couldn’t stand up, couldn’t cook because pain arose all over my body that was difficult to describe, at times I lay a lot.

States of exhaustion continue to occur – in a milder form – I have to be considerate, lie down more often during the day, and not overstrain myself. 

7. Before the start of therapy I had severe joint pain when I was at rest, especially at night, in almost all joints, finally with a flaming character, with muscle and tendon pain in all tendon attachments – without previous stress. I suffered from strange stiffness in tendons and muscles, which increased in spasms, pain, similar to severe muscle soreness and painful swelling that suddenly developed at night, I suffered from a severe loss of strength. 

This kind of pain no longer exists in this bad form. The muscles have also improved.

8. I have had subfebrile temperatures several times. Since 2014, inflammation of the joints, spine and/or tendons has been repeatedly diagnosed (imaging). Painful edema has developed since 2016. A pes cavus component developed with sharp pain.

For many years I had intermittent episodes of extremely heavy night sweats (sweating through) in connection with joint pain. It doesn’t appear anymore.

9. During the time of the massive pain attacks with burning pain, I got painful redness on my elbows several times – they have subsided. 

As if drawn with a ruler, I got cut off, strong redness over my stomach and up my arms – no longer there. For three years, I have had redness on my legs, over my stomach, over my ribs, especially at night/in the morning when it’s warm (bed), there was an extraordinarily severe dryness of the skin. Gradual reduction under therapy, sometimes still faint redness on the abdomen.

10. The pain has become increasingly frightening for me in recent years. Also that they were not properly understood by the treating doctors. I also got panic that I didn’t know before 2015. Two months before starting Galafold therapy, I was completely weak, hypothermic, and had lost a lot of weight.

I haven’t panicked in a year.

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