Family Contacts Network

The National Information

Centre for Metabolic Diseases

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Family Contacts Network

“Sometimes it is helpful just to talk to someone who really has been there and come out the other end of the dark tunnel.”

Diagnosis with a Metabolic Disease can be a scary and isolating experience. Before this many families have never heard of Metabolic Conditions let alone tried to pronounce the name either they or their child has been given. Then caring for a child or learning how to deal with the condition yourself and what this means for the whole family can be even more daunting.

At Climb we have a Network of families and individuals affected by Metabolic Conditions who have agreed to have their details released to others in similar situations in order to ease some of that isolation. After all, who can understand the many challenges both emotional and practical of dealing with these conditions as someone who is living with a metabolic Disease themselves? The sharing of experiences, information and advice has frequently been invaluable for those who have requested contact with other families.

Climb has over 20yrs experience of supporting families in this way and recognises that families often have specialized needs and therefore specific requirements, for example, newly diagnosed, age, religion, geographical area and we always try to find a family or individual most appropriate to contact. As well as specific conditions we also have a Bereaved Parents Network, Fathers Network, Grandparents Network and for those still searching for a diagnosis – an Undiagnosed Network, available to support with their own understanding and experiences

If you are affected by a Metabolic Condition and would like to request contacts and/or to offer your support to other families we would love to here from you. Please either email fam.svcs@climb.org.uk, phone us on our freephone number 0800 652 3181 or Click on the link below to download a Climb Family Contacts Network form.

“I found a new world - 9 years I lived almost in the darkness re my son’s rare deficiency. And now I can get such information ‘from the horse's mouth”

We are looking for contacts for:

Alpha 1 Antitripsin Deficiency	A.P.E.C.E.D
Biotinidase Deficiency	Canavan Leukodystrophy
CPT Type 1 and 2	Channelopathies
Chediak-Higashi Syndrome	Chondrodysplasia Punctata
Congenital Cataracts and Learning Difficulties	Criggler Najjar Syndrome
D2 Hydroxyglutaric Aciduria	Danon Disease
Dysautonomia Familial	Familial Hypertriglyceridaemia
Fructose 1,6 Biphosphatase Deficiency	Galactosaemia
Glycogen Storage Disease	Growth Hormone Deficiency
Hallervorten Spatz	Hypoparathyroidism, Sensorineural Deafness and Renal Disease ( HDR Syndrome)
Hereditary Coproporphyria	Hydroxyisobutyryl CoA Deacylase Deficiency. (
Hyperhidrosis	Hypobetalipoproteinaemia
Juvenile Battens Disease	Juvenile Huntingtons Disease
Krabbe leaukodystrophy	Lowe Syndrome
Marinesco Sjogren Syndrome	McCune Albright Syndrome – Self Sufferer
Mitochondrial Acetoacetyl CoA Thiolase Deficiency	Mucolipidosis III
Mucopolysaccharidosis Type III ( Sanfilippo Disease)	Neuroacanthocytosis
Ornithine Aminotransferase Deficiency	Osteopetrosis
Pendred Syndrome	Primary Hyperoxaluria
Primary Hypomagnesemia with Secondary Hypocalcemia	Pyruvate Kinase Deficiency
Rothmund Thomson Syndrome	Schindler Disease
Sjogren Larsson Syndrome	Thomsen Disease
Vanishing White Matter Disease	Williams Syndrome

To download our family contacts form, please click here