Formerly called infantile Gaucher disease, it is characterised by severe neurological (brain) involvement in the first year of life. It is also called acute neuronopathic Gaucher disease. Fewer than 1 in 100,000 newborn babies have Type 2 disease and this form of the disease shows no ethnic prevalence.
Babies usually appear normal at birth but develop symptoms by the age of 3 to 6 months. Type 2 is almost always apparent by 6 months of age. The vast majority of children die by the age of two years. However, a small number have survived a little longer.
Signs and symptoms include failure to thrive, rigidity of the neck and limbs (hypertonia), head thrust back, lockjaw (trismus), squinting (strabismus) and difficultly in swallowing. Other difficulties include vocal cord (laryngeal) spasm, seizures and a failure to shake off chest infections. The spleen and liver often become very enlarged with accompanying low blood counts. The baby may eventually become increasingly unresponsive for a period before death.
Unfortunately, no specific treatment for Type 2 Gaucher disease is currently available. Therapies which are used to treat patients with Type 1 and 3 Gaucher disease is ineffective in Type 2.
For Type 2 families, clinical management is focused on symptomatic care, and detailed advice on management should be given as soon as the diagnosis is made. To enable this, children should be seen as soon as possible at a specialist centre.
Their child’s frequent visits to hospital and rapidly deteriorating condition mean that parents have little time to adjust to the situation, let alone liaise with other families. For all these reasons it is difficult to support these families, however our free to access service with Rare Minds is available for emotional and counselling support and we also have have contact with a number of families who have sadly lost children to Type 2 Gaucher disease and who are willing to provide advice and share their experiences.
More information can be found in our Type 2 Information Booklet which can be downloaded here.
