AHCAI was invited to join EURORDIS ( www.eurordis.org ) for a meeting in London March 2009.
nEUroped network meeting 21 mars 2009
Introductions were made:
First there was a couple from Nederlands with 7 year old daughter with AHC and 5 year old daughter not affected. Founded the foundation in the Nederlands.
2 from Italy (Italian association)
4 from Denmark (Danish association) 2 couples that have daughters.
A couple from Iceland with a 3 year old daughter (us)
2 from France (french organisation) 12 year old daughter and 2 other children not affected.
Dominic father of 3 – 1 with AHC ( 50 families in France oldest 54 year old)
1 from Spain (spanish organisation)
3 from UK (UK organisation) 21year old, 13 years old. (oldest in the organisation 32 years old)
2 from Germany ( German organisation 28 members oldest 32 years old)
Dominique told us about a frenchman that is 54 year old and diagnosed at 46 years of age. He kept a diary for many years about his condition and he diagnosed himself. Very impressive.
Alexis Arzimanoglou neurologist from Lyon told us that the idea of a network of organisations that could log into a databank resurfaced after a study of 152 patients. The study will be published soon. One of the things that the network would do is to inform doctors about AHC so patients will be diagnosed earlier. It would also be easier to find the source of AHC. Many theories are about the source of AHC but none has been substantiated.
Svetta from Bulgaria said she hoped the meeting would be useful since all the parents has to leave their children behind to attend.
She also said that in this project both parents and patients had to be involved.
At 0930 the group was divided in two narcolepsy and AHC
The Danish AHC association offered us to be a part of their association and we accepted.
So our family is now a part of the Danish association
The search for genes that cause AHC by Sophi Nicoli.
In France a DNA-bank has been established for AHC families. There are 24 families in the DNA-bank. The goal is to find the DNA that is missing or to search for a different chromosome
If many genes are the cause of AHC then it makes the cure more difficult.
The DNA-bank is applying for funding from ENRAH and E-rare.
The cost of research for each DNA sample is 400 Euros for the first stage. For stage 2 the cost is 8000 Euros.
Peter Uldall neurologist from Denmark (characteristic facial features in AHC)
In Denmark the DNA of the 7 patients that live there has been diagnosed but no abnormalities were found.
Also there was research done on twins with AHC that had episodes on the same day 60% of the time when the twins had been together the whole day doing the same things.
Peter talked about facial features on AHC patients and is studying that at the moment.
Ines Carrilho from Spain:
In Spain there were found Biochemical abnormalities in AHC samples.
The ENRAH project will try to diagnose the biochemical similarity in the AHC patients.
David from Prag:
Brought up the subject of needs for older AHC patients and what group of people need to know about AHC.
The help: Help with walking
Help with reading
Help with eating
Also the older the patients there is more risk of epilepsy.
During the break we talked to the president of the Dutch association which told us about a Belgian doctor that has made a breakthrough in the research of blood cells. The doctor studied the blood cells of all the patients in Belgium and some from Holland and found the same abnormalities in all patients.
He is planning to study the blood cells in Italian patients to see if he finds the same abnormality.
Prof. Brian Neville
Professor Neville told us about a meeting on the 29th of September 2009 that is for both parents and specialists.
He told us that nEUroped ( www.neuroped.eu ) was doing 2 kinds of studies:
- Patients needs, how to live with the illness and how it is to be a parent of AHC patient.
- clinical research.
Prof. Neville talked about the ENRAH (European Network for Research on Alternating Hemiplegia) studies. http://www.enrah.net/
After a discussion with prof. Neville the group got an assignment to work on in a working group. The assignment was “how do we want the mailing list to work”
Groupwork nEUroped 21st March 2009
Discussion on the making of a mailing list:
Security and language problems. There were some consern about the language problems particulary from south of Europe
What do we need? We need to share information and exstract information.
One idea was that the mailing list would serve as a centre of information that informs all organizations about what the other organizations are doing.
Eurordis and nEUroped would also add news about what they have done so far, what is new and what are the future prospects.
This would be a first step in establishing network of information.
The mailing list makes inquries to the assocations of Europe (and USA) and then distribute information on the mailing list in English.
The board of the local associtions will then decide if they need to have this information translated into their local language.
The associations could also pull out the important news/facts and send to their members.
By doing it this way we could solve the language barrier.
Another idea was that Neuroped, would translate the documents and then send them to the associations.
The group likes that idea but is aware that this could be difficult.
Also there could be a list of participants from each association so that you could talk to other parents that have children of similar age.
The idea is the the national associations have the memberlist for the other associations.
We would need to have all the patients consent for this.
There has been alot of work done in trying to investigate the source of AHC and this should be known to other countries/associations so that we are not doing the same work over and over again and therefore loosing valuable time when we could be moving forward.
For example the Italians have a DNA Biobank, the Netherlands have some research on bloodwork that have showed the same abnormalty in bloodcells in 8 patients, this is an ongoing research that is promissing.
There was a story about a Frenchman that is 54 year old and was diagnosed at 46 years of age. He kept a diary for many years about his condition. Many things could be learned from this gentleman who is a member of the French association.
The group was in agreement that this way of distiputing information would be the best way for everyone as a starting ground.
Questions to the mailing list/registry:
The groups idea was that if you have questions about for excample new drugs, you (of the associations) should be able to ask nEUroped via the mailing list and you could have an answer sent back, if an answer is available.
Two mailing lists:
There were dicussions about two mailing lists, one for the associations and another personal mailing list.
The mailing list for associations would be a closed list only for 2-3 key persons of the associations and they personal mailing list should be open.
There was discussion if another list would be needed because there is a yahoo mailing list/blog already in place.
There were some discussion about blog for the children with AHC and that would be nice to have but not a priority. The patients could also talk to each other on MSN if they have the email address of each other
We really need information yesterday so if we sould like to start the mailing list as soon as possible.
Who will be in control of the mailing list?
The group was not sure about it, someone from nEUroped or a volunteer
Bente from Denmark is willing to volunteer to work on the mailing list.
To this end, Eurordis undertakes activities on behalf of its members, notably in favour of:
– Empowering rare disease patient groups
– Advocating rare diseases as a public health issue
– Raising public rare disease awareness, and also that of national and international institutions
-Improving access to information, treatment, care, and support for people living with rare diseases
-Encouraging good practices in relation to these
-Promoting scientific and clinical rare disease research
-Developing rare disease treatments and orphan drugs
-Improving quality of life through patient support, social, welfare and educational services