Asking for a diagnosis: Why? When?

A diagnosis can either follow a patient’s medical condition resembling  CADASIL disease or be the request of a voluntary adult having no apparent symptoms (asymptomatic) but having a parent affected by the disease.

The request for a diagnosis can be grounded on many reasons: wanting to know one’s personal situation so as to plan one’s future ; being truthful to the other when one is living with someone else ; planning to have a baby may also generate the will to know the risk of genetic transmission of the disease.

The request for diagnosis cannot be performed without precautions.

In case of a medical condition resembling CADASIL

Only a neurologist can perform the diagnosis: evaluation of the symptoms, MRI screening, family enquiry to know the historical background, blood testing in order to look for a Notch3 gene mutation, etc.

When having no symptoms

Can the disease be detected before symptoms  occur in a person presenting risks of having Cadasil?

The screening test is possible before the occurrence of  symptoms of the disease for  relatives of a patient suffering from Cadasil (pre-symptomatic test). In this manner, it can be determined whether the person has the genetic anomaly and so if he might one day develop the disease.

Nevertheless, a genetic screening for a person showing no sign of the disease is only performed after a specialized medical and multi-disciplinary consultation along with close medical and psychological supervision. Under French laws, no test can be performed on a person under the age of 18 and showing no symptom.

After a medical examination by a neurologist informing the person about CADASIL, a meeting with a psychologist and a genetician is planned. The decision to ask or not for the pre-symptomatic test being complex and hard, it is important that the person shall be informed and supported as much as possible. Then, the psychologist can evaluate the psychological mood of the patient, his thoughts and questions on the disease as well as his ability to face a harsh diagnosis. The genetician will explain the test and the meaning of the results.

When the person decides to request the test to be performed, a period of reflection of one or two months is required before actually doing the blood test. At any time, it is possible for this person to change his mind and decide not to know the result of the test. Medical and psychological help is always offered after the reading of the result, about three months after the blood test,  the latter one being positive or negative.

Impact of the diagnosis

Once the diagnosis is confirmed, it will have many impacts on the person’s life:

• If the person already has symptoms, he will face questions regarding his personal or professional life

• If the person doesn’t have yet some symptoms, the news of the diagnosis confirming the presence of the mutated gene will have a real impact, depending on the person: emotional shock, family and professional uncertainties for the future, preoccupations regarding the evolution of the disease, risk of difficulties for fulfilling administrative formalities (loans, insurances…).

• If the diagnosis is negative, the impact can also be very strong: feeling of liberation or, on the contrary, of guilt towards the other members of the family…

Wanting a baby can be a motive for requesting the test

When a person within a couple may be affected by the disease:

• It is possible for them to ask for a screening. If the mutation is present and if the couple doesn’t want the future baby to inherit from it, they can ask for a prenatal diagnosis procedure.

• Or the couple can decide not to test the future parent but to choose a pre-implantation diagnosis procedure instead.

More information HERE (to be translated) ♦