A diagnosis is extremely important to obtain, because as long as a disease is undiagnosed, doctors have no idea what kind of disease has affected the child. This means that the health care system does not know how the child should be treated and whether a medicine helps or overturns. No one knows how the disease will manifest itself (no prognosis exists) nor can anyone give genetic advice on heredity. Today it is not uncommon for undiagnosed children to have to wait several years to get a diagnosis. A delayed diagnosis can mean that the disease gets worse and, at worst, becomes life-threatening.
Lacking a diagnosis also means that it can be difficult to get help from the community to which the child should be entitled, such as an aid and personal assistant. It can also be difficult to get help from the health care system when there is no diagnosis, such as habilitation, physiotherapy, speech therapist, etc.
For parents, it is extremely difficult not to know why the child is difficult despite the fact that the health care system has made many and thorough investigations during the child's upbringing. Unfortunately, sometimes parents are also distrusted by society and health care. So it's no wonder that many people wonder if they've done something that might have made the child sick as a repaint, taken half a glass of mulled wine or eaten something inappropriate. All such thoughts disappear when the child finally receives a diagnosis.
Alice's mother Emilie tells:
"Alice has been diagnosed with Neuronal Ceroid Lipofuscinosis (NCL), variant CLN7.
To get a diagnosis of an incurable disease is a great sadness and a very tough decision to receive. But living with a sick child without a diagnosis is actually even worse!
You know something's wrong with your child, but you don't know what. You have nothing to relate to and do not know what to prioritize in nursing and training. Unfortunately, it is actually the case in our society that it usually takes a diagnosis to get the help you are entitled to, it makes it all a lot easier. You also don't know if there is actually anything that could help your child feel better or get well. You live your life all the time in a constant search for answers and the right help.
Getting a diagnosis allowed us to live in the present and make the most of the time we get together."