Where to Get Support

You are not alone.

We understand how terrifying and isolating it can feel to face a diagnosis of a rare, lifelong condition.  As the umbrella patient organisation for all Inherited Metabolic Disorders, we can provide bespoke support, advice, and information to patients and their families.  Whether you have found us shortly after diagnosis or at a later stage, and would like to speak to someone about a condition or be connected with another family to share experiences please get in touch.  Our well-trained, caring team is here to help.

There are also a number of other patient organisations, support groups, and online forums focused on specific conditions, who can also help with support, advice, and information:

Adrenoleukodystrophy (ALD) and other Leukodystrophies
Alex TLC (formerly known as ALD Life) provides practical support, advice and information to patients and families with all leukodystrophies, raises awareness and improve public education into both conditions and aims to advance medical research into finding better treatments.

Alkaptonuria (AKU)
AKU Society aims to transform the lives of AKU patients through patient support, community building, and medical research.
There is also a disorder-specific forum for those affected by AKU at Rare Connect

Alpha-1 Antitrypsin Deficiency (Alpha-1)
Alpha-1 UK Support aims to connect patients and families, provide support, education and improve understanding and awareness of the condition.
There is also a disorder-specific forum for those affected by Alpha-1 at Rare Connect.

Barth Syndrome
Barth Syndrome UK aims to save lives through education, advances in treatment and finding a cure.
There is also a disorder-specific forum for Barth Syndrome at Rare Connect.

Batten Disease (CLN)
Batten Disease Family Association offers informed guidance and support to families and the professionals who work with them, as well as actively increasing awareness of the disease and funding future research to identify potential therapies and ultimately a cure.

Congenital Disorders of Glycosylation (CDG)
There is a disorder-specific forum for those affected by CDG at Rare Connect

Cystinosis
Cystinosis Foundation UK supports individuals, families, and researchers in the Cystinosis community.
There is also a disorder-specific forum for those affected by Cystinosis at Rare Connect

Galactosaemia
Galactosaemia Support Group brings families affected by Galactosaemia into contact with each other and offers support where most needed

Gaucher Disease
Gauchers Association offers support to families with their diagnosis and up-to-date information on the best treatments for Gaucher Disease.
There is also a disorder-specific forum for those affected by Gaucher Disease at Rare Connect.

Genetic Haemochromatosis (GH)
The Haemochromatosis Society is patient advocacy group and a source of high-quality information about Genetic Haemochromatosis

Glucose Transporter Type 1 Deficiency (Glut 1)
Matthew’s Friends Glut1UK supports affected patients and families in the UK, raises awareness, helps fund research projects and provides education and training in the treatment of Glut 1 Deficiency.
There is also a disorder-specific forum for those affected by Glut 1 at Rare Connect

Glutaric Aciduria Type 1 (GA1)
There is a disorder-specific forum for those affected by GA1 at Rare Connect.

Glycogen Storage Disease (GSD)
Association for Glycogen Storage Disease offers patient and family support, creates and distributes information and contributes to the advancement of treatments and cures through sponsorship of research, studies and trials.
There is also a disorder-specific forum for GSD Types 1 and 3 at Rare Connect.

GNE Myopathy
There is a disorder-specific forum for GNE Myopathy at Rare Connect.

Hypophosphatasia (HPP)
Soft Bones UK aims to raise awareness of HPP, to determine early diagnosis, and to support and advocate those diagnosed with HPP and their families in the UK.
There is also a disorder-specific forum for those affected by HPP at Rare Connect.

Ichthysosis
The Ichthyosis Support Group provides an information network and support structure for patients and families affected by Ichthyosis, raises awareness and understanding within the medical profession, and lobbies for greater research into this distressing condition.

Lebers Heredetory Optic Neuropathy (LHON)
The LHON Society connects families to enable them to share experience, provides practical and emotional support, and up-to-date information in scientific progress into LHON.
There is also a disorder-specific forum for those affected by LHON at Rare Connect.

Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD)
There is a disorder-specific forum for those affected by LCHADD at Rare Connect.

Krabbe Leukodystrophy
Krabbe UK supports families affected by Krabbe Leukodystrophy, and champions research and awareness of the disease.

Lipoprotein Lipase Deficiency
There is a disorder-specific forum for those affected by Lipoprotein Lipase Deficiency at Rare Connect.

Lowe Syndrome
The Lowe Syndrome Trust supports families, and initiates and funds medical research into Lowe Syndrome.
There is also a disorder-specific forum for those affected by Lowe Syndrome at Rare Connect

Mepan Syndrome
There is a disorder-specific forum for those affected by Mepan Syndrome at Rare Connect.

Metachromatic Leukodystrophy (MLD)
MLD Support Association UK provides support to families, enabling them to share their experiences, provides information to medical professionals to ensure a correct diagnosis, on-going care and treatment options, and supports research into therapeutic procedures for MLD. research.

Mevalonate Kinase Deficiency (MKD)
There is a disorder-specific forum for those affected by MKD at Rare Connect.

Mitochondrial Disease
The Lily Foundation supports people whose lives are affected by Mitochondrial Disease, raises awareness and funds research into prevention, diagnosis, and treatment.
There are disorder-specific forums for those affected by Mitochochondrial Diseases and Leigh Syndrome at Rare Connect.

Mucopolysaccharide Disease (MPS)
MPS Society provides professional support to individuals, families, and professionals affected by MPS and related Lysosomal Storage Diseases throughout the UK.
There are disorder-specific forums for those affected by Sanfilippo Syndrome and Hunter Syndrome at Rare Connect.

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
There is a disorder-specific forum for those affected by MCADD at Rare Connect.

Mevalonate Kinase Deficiency (MKD)
There is a disorder-specific forum for those affected by MKD at Rare Connect.

Molybdenum Cofactor Deficiency (MoCD)
There is a disorder-specific forum for those affected by MoCD at Rare Connect.

Multiple Sulfatase Deficiency
There is a disorder-specific forum for those affected by Multiple Sulfatase Deficiency at Rare Connect.

Niemann Pick
NPUK is dedicated to making a positive difference to the lives of those affected by Niemann Pick diseases by raising awareness, providing practical and emotional support, advice and information and facilitating research into potential therapies.
There is also a disorder-specific forum for those affected by Niemann Pick Type C at Rare Connect

Phenylketonuria (PKU)
NSPKU exists to help and support people with PKU, their families, and carers and actively promotes the care and treatment of PKU, working closely with medical professionals in the UK.

Porphyria 
The British Porphyria Association supports and educates patients, relatives and medical professionals to help improve the lives of those affected, and promotes research into this group of rare conditions.
There is also a disorder-specific forum for those affected by Porphyria at Rare Connect.

Primary Carnitine Deficiency
There is a disorder-specific forum for those affected by Primary Carnitine Deficiency at Rare Connect.

Propionic Acidemia
There is a disorder-specific forum for those affected by Propionic Acidemia at Rare Connect.

Pyruvate Dehydrogenase Deficiency (PDH)
The Freya Foundation raises awareness of PDH, provides information and advice, and works with medical specialists to help improve diagnosis, treatments and managing the condition.

Tay Sachs and Sandhoff Disease
The CATS Foundation supports families whilst also raising awareness of Tay Sachs and Sandhoff Diseases.

Trimethylaminuria
There is a disorder-specific forum for those affected by Trimethylaminuria at Rare Connect.

Urea Cycle Disorders
UCD Support Group is a friendly and supportive group on Facebook for those affected by Urea Cycle Disorders in the UK.  This is a closed group which you will need to request to join, and only the other members of the group will be able to see your posts, ensuring a safe and private space.
There is also a disorder-specific forum for those affected by Urea Cycle Disorders on Rare Connect.

X-Linked Hypophosphataemia (XLH)
XLH UK promotes awareness and education for affected families and supports clinicians and other providers of medical care for better diagnosis and treatment.

Zellweger Syndrome 
Zellweger UK supports families dealing with Peroxisomal Disorder on the Zellweger spectrum, and help to fund much-needed research.