Derralynn's story - Fabry Awareness Month

This Fabry Awareness Month, we are featuring a range of articles from guest bloggers describing their relationship with Fabry disease. This week, we have Derralynn Hughes, Professor of Experimental Haematology at the University College London, Clinical Director of Research and Innovation at the Royal Free London NHS Foundation Trust, and Co-Clinical Director of the NCL cancer Alliance.

Information contained in these articles has been collected and written by our guest blogger and does not necessarily reflect the opinions of the MPS Society or its Board of Trustees.

For patients living with Fabry disease, the longest time before their diagnosis is whilst they are symptomatic at home or in the community with no one understanding or being able to explain the symptoms. It may take many visits to a family doctor for them to be referred to a hospital. Even at this point a diagnosis maybe not be forthcoming as the condition is very rare and many hospital specialists will not have heard of Fabry disease.


In women, for example, the external features of the rash, angiokeratoma or pain in the hands and feet may not be so evident and so the pointers to the diagnosis are missing. Years can go by when patients are in pain, frustrated and anxious. They may have many visits to different doctors and specialists.


Eventually when they meet someone who has heard of Fabry disease or makes the diagnosis there can be a sense of relief that there is an explanation for their symptoms and the possibility of some treatment. At the same time, the diagnosis of a genetic condition often comes with worries about the future, concerns about the family members and guilt about passing on the gene. It can be difficult to broach a conversation with other family members and this is especially the case when someone has just had a diagnosis themselves and is unsure of the impact of the condition or its treatment on their lives.


Male patients with severe Fabry disease may experience severe and troublesome pain in the hands and feet which has a burning stinging nature and can come on when they are hot or unwell, with a cold for example, or anxious. This has been described as like putting hands on a hot stovetop. Several medications can help with this pain but some of these have side effects such as weight gain or feeling sleepy, and it is still important to develop a treatment for Fabry disease which fully addresses the symptoms of pain. Women sometimes experience pain although it can be milder and more difficult to diagnose.


Both men and women with Fabry disease can have problems with sweating. In men, this is often a reduction in sweating which leads to overheating which in itself can exacerbate the symptoms of pain. This means that they become overheated and often cannot participate in sports or go on holidays to hot countries. In women sometimes the symptom is increased sweating which can cause embarrassment. The rash is often found on the hands and feet around the belly button, around the underwear regions and the mouth. The spots can sometimes bleed and again cause embarrassment and worry about what the underlying cause may be.


Another feature of Fabry disease which is difficult to live with are symptoms which are similar to irritable bowel syndrome causing alternating diarrhoea and constipation. Some patients have worse diarrhoea and others worse constipation, and this can be made even more troublesome by taking analgesic medications for the pain. It is sometimes so disabling that people are unable to leave their house.

However, for many patients, while the pain and skin rash are embarrassing, painful and disabling, the major concerns are around what will happen to the heart and kidneys and whether they might have a stroke in the future. Whilst our treatments for Fabry disease can slow down the progression of many of these features there can still be problems in these organs, especially in patients who are diagnosed and treated later in life.


Some patients develop thickening of the heart muscle which can cause increased difficulty breathing especially on hills, fatigue and sometimes the feeling of the heart racing in the chest. Some patients need to have pacemakers or implantable defibrillators to protect them from the heart beating in an abnormal way. The patients can have a progressive reduction in the functioning of their kidneys leading to fluid accumulation and sometimes a need for dialysis. Other people can have strokes that can occur at an early age and result in a disability.


Whilst Fabry disease can result in multiple problems, it is unusual for patients to have all of them. Individuals will come to know their own symptoms which can make them better. Whilst we have good treatments for Fabry disease, we must develop even better treatments that can be started earlier and have more impact on the symptoms. Therefore, improving the quality of life for patients with Fabry disease.


More information:

If you would like to know more about Fabry disease, please visit our dedicated Fabry page.