Assessing patients’ needs makes it easier to identify what sort of help is needed. The social care officer is here to answer questions on this topic either in a private meeting or in one of the Patient Education Program group workshops organised by the Amyloidosis Network.
There are numerous facilities and support networks which have experience with patients of different ages, levels of autonomy, locations, family lives, professional situations and means. These organisations help patients to improve their quality of life, as well as that of their family and friends.
A family member has been affected by hereditary amyloidosis, but another relative is not showing any symptoms. This is where the pre-symptomatic test comes in. The pre-symptomatic test is for siblings, adult children and parents of people who have been affected by hereditary amyloidosis and have a genetic mutation. The pre-symptomatic test is also called the predictive test and tells the relative if they are carrying the same mutation as their family member. Carriers are at risk of developing the same illness later on and passing it on to their children. Carriers might never even develop the illness. Identifying this gene helps carriers put in place appropriate medical monitoring and early treatment.
The genetic test is not obligatory and each person’s motivations are taken into account. It has personal and familial consequences which cannot be ignored. For this reason, it is important that patients and relatives ask as many questions as needed to make this decision. This is why it is called ‘genetic counselling’.