Italian AHC association Family meeting in Rome 26-27th March 2011
The meeting was at the Summit hotel in the outskirts of Rome and suited this family meeting very well. The hotel is spacious with friendly staff and wheelchair friendly. The meeting was in one room, the medical examination was in another room and there was a special room for the AHC persons to play in and watch tv.
The meeting was well attended where 23 families came together as one. AISEA invited Albert Vilamala from the Spanish AHC association and myself to attend.
The president of AISEA, Rosaria Vavassori, started the meeting by welcoming everyone and going over the agenda for the 2 days. The meeting was in Italian so I could not follow everything but Filippo Franchini was kind enough to translate for me and Albert Vilamala.
On Saturday morning the AISEA doctors saw some of the AHC persons for an update. They updated their information and tested their mobility. A video was also taken to demonstrate the mobility. It was good to see how well this 12 year old boy was doing. While the boy had his physical check he got an episode so that his left arm was not working but he continued and finished the check-up.
At the meeting Mirella Tarantino was introducing a book of rare diseases that focused on the feeling of living with a rare disease in the Italian society. She said that she had a new look on life after interviewing all these persons that lived with a rare disease. She informed us that the university of Rome was offering 10 persons with a rare disease to attend the university for free.
The management of anxiety states: Guidelines :
A. Crocetti who is a psychologist and psychotherapist that has helped many AHC patients introduced his approach on how to boost the confidence of AHC persons and told us how his patients have grown since they started to follow his tailor-made approaches. We heard some stories from family of patients that have gained much from going to this psychologist. Albert (18 years old) had frequent panic attacks but now he is doing much better and is doing things that he though he would never be able to do. His self confidence is much better. The psychologist told us that the patients first have to learn relaxation and how to be able to relax in difficult situations and then they are able to add experience.
Andrea (18) is studying acting and is able to perform like a normal person when he is on stage, he says that the feeling he gets when being on stage is so good that he can transform himself and be one with the character that he is playing. His problem is the stress the day before acting but there is no stress when he on stage.
Marco (40) stood up in front of the meeting and held a little speech about how the psychologist had helped him. He said that although AHC persons would never accomplish „great“ things they could still be selfsufficient and be able to do little things that normal persons take for granted. To do that is a big feat for AHC persons. It was unbelievable to watch Marco perform that speech which for a „normal“ person would a big deal. He did this with such calmness and self confidence that I was moved to be there.
With those stories in mind it seems to be obvious that taylor-made psychotherapy is very important to AHC persons.
There was a discussion about how to manage the upbringing AHC children, should you push them to do things that are difficult for them so that they learn more quickly or should you protect them to lower the chance of episodes. Some people had very strong opinions on this topic. Perhaps there is a fine line that the parents have to dance on so that the children are exposed to new experiences but the experience is managed so not to provoke episodes.
Glut-1 study: To cut a long story short the Glut-1 study is a dead-end, there was nothing to support that there was a discrepancy between glucose in the blood and the spinal fluid: A screening of the gene was performed on 34 patients and all of them appeared negative. They are now searching for proper candidates to whether perform the lumbar punction or not.
A new gene research was introduced. The purpose is to perform an exome sequencing in order to have an ‘overview’ of the whole genome which can allow to find mutations in genes (the genetic projects that have been carried out until now rely on a specific candidate gen to start the search from).
To do this the researchers will find 4 good examples for whom to perform the sequencing. The reason for choosing only 4 individuals is the high price of this study which will be fully funded by AISEA. 30 million genes out of the human 32 billion genes will be screened to find an abnormality.
For the time being, 3 patients show genetic mutations (in different genes). However they do not seem responsible for AHC. Even though, they can be good candidates to start further research from.
The most plausible hypotheses to keep the research on seems to be a pathology related to calcium transmission.
The doctors told us that although an abnormal gene would be found the process to produce a drug and to have it approved could take 10-15 years with the current technology. This is the reality we have to live with.
A dismorphic study was also carried out and its results presented in the meeting. No common characteristic feature for all the AHC kids was found, but most of them presented certain similarities due to the associated hypotony (but not attributable to AHC itself).
Albert Vilamala the secretary of the Spanish AHC association (AESHA) introduced the association which was formed in 2004. There are 22 AHC patients that association know of but only 9 are involved with the association. AESHA has been involved with the Glut-1 study and also a metabollic study on AHC that will be announced soon. Their next project is to take part of the Quality of life study on paroxismal events (AISEA). AESHA will also take part in the Eurordis webpage www.rarediseasecommunities.org
Sigurdur (Siggi) Johannesson (AHCAI) introduced the Icelandic AHC association. The association was formed in 2009. There is 1 patient in the association, Sunna Valdis (5 year old). AHCAI will take part of the Quality of life study (AISEA). It is also involved with Eurordis in the rare disease website. He introduced the new website and he could see that people were impressed about the translation part of the site.
Rosaria introduced the AHC biobank and clinical registry. She showed us how and what information are logged and also which information the parents have to have ready when doing the registration.
When a research is approved it is mandatory for the researcher to inform the biobank of the result when the research is finished.
On Sunday morning, we left behind the technicity of the research projects and focused on other no less important activities that AISEA carried out last year in order to spread the information on AHC and fundraising.
I was impressed for the amount of activities they did and by the involvement of all the members in raising funds for the association.
Regarding information broadcast, they take advantage of new technologies by actively participating in their group in facebook and writing frequently in their blog. Also, a ‘journalino’ is published regularly containing stories written by the affected AHC persons themselves.
When it comes to raise funding, several ideas were presented, among them: the successful participation in the ‘5 per 1,000‘ (individuals can choose an organization to donate a 5 per 1,000 of their taxes), or the ‘365 storie cattive’ book, a book containing dark novel stories, the benefits of the sales are donated to AISEA .
“It meant a great deal for me to be at the meeting although many of the Italians did not speak English I could feel that I was welcomed as one of the family. The joy in the eyes of the children when they were playing with their friends that had the same illness and also their siblings that understood what they are going through was heartwarming.
The Italian AHC association is doing an amazing job, I only wish that we could all be as active as they are then I would not worry about our children’s future.
Sigurdur Johannesson, President AHCAI www.ahc.is “
“I cannot agree more on the feelings expressed by Siggi about the friendliness of the Italian families and steering board which provided us with a pleasant stay. Well done for AISEA and looking forward to collaborate with you all.
Albert Vilamala, secretary AESHA”