Rare Genetic Disorders
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene or multiple genes or by a chromosomal abnormality.
What is a rare genetic disorder?
A rare disease is a disease or disorder that affects only a small percentage of the population. The European Union defines a disease or condition as rare if it affects fewer than 1 in 2,000 people within the general population. Currently, there are over 6,000 known rare diseases.
8 out of 10 rare diseases have a genetic cause and 99% of genetic conditions are classed as rare. Often rare diseases are chronic and life-threatening. Rare diseases can be single gene, multifactorial, chromosomal or non-genetic.
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Health & Social Care Services Ltd have made such a huge difference to our family’s quality of life. After many years of continuous stress and battling to get the care that our disabled son desperately needed, to have an acceptable quality of life – it feels like we have suddenly ‘landed’!
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We’re here to help
Please contact our team of care professionals to discuss any aspect of the care we provide for individuals with rare genetic disorders.
Useful Resources
Unique is a charity providing information and support to individuals and families affected by rare disorders. Visit their website- https://rarechromo.org/who-we-are/
Referrals
Speak to our care professionals for comprehensive care solutions tailored to your needs.
We welcome referrals from case management teams, local authorities, NHS Trusts and integrated care boards, charities as well as directly from the home and family. Upon referral, our team will contact you, where they can talk you through the entire process and guide you through each stage, as well as answering any questions you may have.
