Are we following the right path of visits?
I'd like to have some information, if possible!
I must say that the discovery of this disease (unfortunately too late), occurred, through my grandfather, who only after 12 years of aggressiveness, malaise, irritability and spasms, was convinced to take a test to understand the origin of his discomfort (he wanted to die without knowing anything).
So, a year ago we discovered the cause of these multiple symptoms, Huntington's disease.
Under the advice of a doctor, my 2 uncles and my mother, immediately underwent the genetic test (Caldo Besta Hospital in Milan).
My mother, is positive to the diseased gene, one brother negative, the other did the test, but at the moment he does not want to know anything about it.
My mother is 52 years old, the symptoms, understanding now the development of these, have been there for at least 5 years, and like my grandfather, they started with a change of personality and aggressiveness, for about one year now muscle spasms have appeared (spasms of the fingers of the right hand and mild spasms in the legs).
We are 3 sisters, one of whom is a minor!
I am 27 years old, I have a 2 and a half year old girl!
How can I manage her illness, which could also be my illness or that of my sisters or my daughter?
In April we had a first meeting (still at the Besta Hospital), which was an interview and a visit to check the movements! We also conducted a written test!
Now, in September, we have set the blood sample, but until December we will not have the results ... waiting times are very long.
My question is: “At the moment, are we following the path of visits in the right way?
Being on the edge for all this time, it's a torture!
Looking forward to your reply, kind regards
The Besta Institute has experience in the management of genetic testing and its staff should therefore know and apply the international guidelines that are normally adopted in these cases. Let's try to list some basic rules that you can then compare with the path you are taking and make your own assessment:
1. The physician should not encourage or discourage anyone to undergo a genetic test, but only be a guide for those at risk. It is you who decide, as long as you do so consciously, that is, after a counseling process. No one has the right to facilitate or hinder.
2. Usually, you do not proceed with sessions with brothers and sisters on the same day. People should be divided into different days and should be encouraged to be accompanied by someone they trust, possibly not another person at risk.
3. The genetic test is carried out in a few days and the result is usually delivered within a month, depending on the time needed for counseling and shared with those who request it.
4. No asymptomatic minor should do the test, this is an essential and inviolable rule.
5. No asymptomatic minor can participate in observational studies.
We remain at your disposal for any further clarification and would like to remind you that, should you wish to meet us, a LIRH clinic is also present in Milan in Viale Certosa once or twice a month. The toll-free number to make a reservation is 800.388.330.