Understanding rare disease? — Scope | Disability forum
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Understanding rare disease?

Nozza Member Posts: 2 Listener
My nephew whos 42 and his 4 sons have a rare genetic disease called Multiple Hereditary Exotosis also known as Hereditary Multiple Exotosis. The main part is that extra bones and spurs grow where they shouldn't due to missing Heparin Sulphate in his cells. So there is a risk and fear that these can become cancerous tumors. These extra bones can cause damage in the body to muscles and nerves and can only be removed by major surgery. He didnt grow strong and is small in stature so hes not strong and struggles with manual work for long periods of time. Plus because of this genetic disorder it can cause other illnesses such as problems on the gut, lungs, neurological and many others. This leaves my nephew with pains and extreme fatigue.. hes tried to work in the past but ended leaving his job because of the pressure and the way his bones grew in his feet caused too much pain and became completel numb to where he had to put them in hot water to get the circularation going. Now claiming Universal credit and on top of this has symtoms of Long Covid after getting corona virus early last year.

They all overcrowded living in a private 2 bedroom terraced house with damp and mould and its so cold. He's is so worried once job search expectations of Universal Credit will come in to effect that he will lose it as he is now too poorly to work and worried about what benefits he can claim when this Rare Disease is not recognised, not understood and is invisible to many.. if anyone out there that could advise and help It would be so appreciated. 

Noreen ? 


  • janer1967
    janer1967 Member Posts: 16,434 Disability Gamechanger
    Hi and welcome 

    He needs to report his medical condition on his UC journal and get a fit note from his gp 

    This will start the work capability process.  He will be referred after fit note for 28 days by his work coach 

    He will then get sent uc50 forms to complete and then have assessment 

    They will then decide if he is deemed fit for work or limited capability for work lcw or limited capability for work related activity LCWRA 

    If lcw or LCWRA he wont have the normal looking for work requirements and if in LCWRA group will get additional payment on UC 

    Also had he looked into claiming PIP 

    Another suggestion would be to self refer for care needs assessment on gov website . A ot will come and assess his home and recommend any aids or adaptions this report can be used then for housing applications 

    Lots for you to consider please ask if any further questions 
  • Nozza
    Nozza Member Posts: 2 Listener
    Thankyou janer1967 I have passed this information to him and hopefully he will be able to get help and not lose money because of his disability.  Does anyone know if he could get support and help for applying for better housing?
  • woodbine
    woodbine Member, Community Co-Production Group Posts: 7,751 Disability Gamechanger
    Re:housing they could try the council but the waiting list are long and properties in short supply. Is it possible they could try and find a private rental thats in better condition?
    Be extra nice to new members.


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