Fabry Disease

What is Fabry?

 

Fabry disease is closely related to mucopolysaccharidoses and is one of the lysosomal storage diseases. It was first described in 1898 by William Anderson and Johannes Fabry and is also referred to by some as Anderson–Fabry disease.

 

What causes Fabry?

 

In the course of normal life there is a continuous recycling process in the body which consists of building new materials and breaking down old ones ready for disposal. This activity takes place in a special part of the body’s cells called the lysosome. This process requires a series of biochemical tools called enzymes. The enzyme alpha-galactosidase A (alpha-GAL) is essential in breaking down the fatty acid globotriaosylceramide (GL3).

 

People with Fabry cannot make enough of alpha-GAL, without enough levels of the enzyme the normal functioning of vital organs is affected. When GL3 is not completely broken down it builds up within the cells of the body causing progressive damage. Organs such as kidney, heart and brain eventually start to deteriorate, and severe or life-threatening complications can arise. Babies may show little sign of the disease but as more and more cells become damaged by an accumulation of these waste products, symptoms start to appear.

Fabry Findings

Rare Disease Research Partners have produced a series of publications on behalf of the Fabry International Network which present the findings from research carried out in the Fabry community. You can download the first two issues below.

Disability Living Allowance (DLA) and Personal Independence Payments (PIP)

Points to remember


  • Having DLA does not automatically mean you will get PIP
  • A child potentially needs more support than a young person/adult, that is why the claim may be reduced or refused
  • Mobility component is more stringent, walking distances have reduced
  • You have to be UNABLE to perform activities for 182 days of the year, this has Implications for Fabry members who only experience periodic “Fabry Crisis”




Medical Assessment


  • Generally your assessor will not be a doctor, they can be nurses, physiotherapist, occupational therapists, paramedics, but all have some medical background

  • They may have read about Fabry but it’s how it affects you as an individual that you need to tell them

  • They will ask you about how you manage the everyday tasks such as cooking a simple meal, you need to explain why you cannot do this

  • Fabry condition varies so it is important to say when you are unable to function; is it all the time, or just when you have a crisis




Hints and Tips


  • Be prepared – refresh your memory on what is written on PIP form

  • Take someone with you who knows your condition and can speak up if you forget things

  • Remember you are observed from the time you arrive

  • Remind the assessor TODAY IS A GOOD DAY - otherwise you would not be attending

  • You will be asked to perform some physical movements remember: IF IT HURTS DON’T DO IT YOU WILL NOT BE PENALISED FOR THIS




Appeals and Tribunals


  • A revision request must be made in writing – This is a Mandatory Reconsideration- MPS Society can help you go through the reasons refused and look at the descriptors, additional medical evidence may need to be supplied

  • A right to appeal will arise once the revision request is considered, appeals are made in writing directly to the First-tier Tribunal and again we can help with this




Moving from DLA to PIP


Many of you may have received DLA and then found that allowance had reduced or been withdrawn when you changed to PIP at 16 years old. I would suggest that if you have previously completed the forms yourself it would be helpful to ask me first to help with the PIP form rather than waiting till you have been turned down, and then struggle to do a Mandatory Reconsideration. I have generally found that you need to put in a lot more specific examples than members generally do.





Mental health

Why mental health and Fabry are related


This is an area which many of you struggle with whether you are a young person or an adult. There are many reasons for this, but for many, it is the impact of the symptoms making it difficult to engage in activities.




Things to consider


  • Try to do something that you enjoy on the days when you are more able, such as meeting friends, going to the cinema, watching a funny film, going for a short walk in some green space, painting, and singing.

  • Talk to other Fabry members, sometimes it’s easier to talk to someone who is not a family member. The society can put you in touch with other members

  • Try to get outside wherever possible, even for a short time

  • Talk to your specialist centre if your mental health is suffering, they will either have therapists who can help or be able to sign post you to the services who can help in your area




What else you can do


  • Speak to your GP who can help with local services and next steps

  • The charity MIND may be able to help and put you in touch with local services

  • ‎Our conferences are always a good place to come and meet and engage with members and clinicians from the Fabry community and have fun at the same time





Disability Living Allowance (DLA) and Personal Independence Payments (PIP)

Points to remember


  • Having DLA does not automatically mean you will get PIP
  • A child potentially needs more support than a young person/adult, that is why the claim may be reduced or refused
  • Mobility component is more stringent, walking distances have reduced
  • You have to be UNABLE to perform activities for 182 days of the year, this has Implications for Fabry members who only experience periodic “Fabry Crisis”




Medical Assessment


  • Generally your assessor will not be a doctor, they can be nurses, physiotherapist, occupational therapists, paramedics, but all have some medical background

  • They may have read about Fabry but it’s how it affects you as an individual that you need to tell them

  • They will ask you about how you manage the everyday tasks such as cooking a simple meal, you need to explain why you cannot do this

  • Fabry condition varies so it is important to say when you are unable to function; is it all the time, or just when you have a crisis




Hints and Tips


  • Be prepared – refresh your memory on what is written on PIP form

  • Take someone with you who knows your condition and can speak up if you forget things

  • Remember you are observed from the time you arrive

  • Remind the assessor TODAY IS A GOOD DAY - otherwise you would not be attending

  • You will be asked to perform some physical movements remember: IF IT HURTS DON’T DO IT YOU WILL NOT BE PENALISED FOR THIS




Appeals and Tribunals


  • A revision request must be made in writing – This is a Mandatory Reconsideration- MPS Society can help you go through the reasons refused and look at the descriptors, additional medical evidence may need to be supplied

  • A right to appeal will arise once the revision request is considered, appeals are made in writing directly to the First-tier Tribunal and again we can help with this




Moving from DLA to PIP


Many of you may have received DLA and then found that allowance had reduced or been withdrawn when you changed to PIP at 16 years old. I would suggest that if you have previously completed the forms yourself it would be helpful to ask me first to help with the PIP form rather than waiting till you have been turned down, and then struggle to do a Mandatory Reconsideration. I have generally found that you need to put in a lot more specific examples than members generally do.





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Contact us

 

Our helpline is open 9-5pm

Monday-Friday: 0345 389 9901

Out of hours support line open 5pm-10pm Monday-Friday and weekends:

07712 653 258 

Treatment

 

For available treatment options and the latest news and information on research, therapies and clinical trials please visit our treatment section.

rebecca mps.jpg

Introducing Rebecca

My name is Rebecca Brandon and I have been the support worker for Fabry members for the last 10 years. Since joining the society, the Fabry membership has grown and we now have over 450 members.

Because of the way it is inherited, Fabry tends to have a domino affect once one person has been diagnosed. Each person is unique, not everyone has symptoms and some have many.

 

I wanted to let you know about a few areas of support that we give to the Fabry family membership. We assist with all aspects of life, from talking to employers and schools to education, health, benefits, housing, adaptations and much more. The information on this page focuses on the main areas that I seem to have more contact about than any other but please know that I am always here to help should you need it.

 

Remember we are always here to help

We are the only registered charity providing professional support to individuals and families affected by MPS, Fabry or a related disease in the UK.

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