Syngap Global News - August 2018
The Syngap Global Network team is excited to share Syngap updates from their respective countries.
For country/language specific updates please visit the country's section.
We are all in this together and our collaboration will keep moving things forward.
The SynGAP Research Fund, Inc. (USA) was formed in June, 2018 with a private donation from a set of parents in the SF Bay Area. The stated mission of the organization is to IMPROVE THE QUALITY OF LIFE OF SYNGAP-1 PATIENTS THROUGH THE RESEARCH AND DEVELOPMENT OF TREATMENTS, THERAPIES AND SUPPORT SYSTEMS.
The SRF is currently focusing on three key activities in addition to standing up the organization.
- Diligence: engaging with leading researchers in SynGAP, Epilepsy and related disciplines around ways they can accelerate their research on SynGAP.
- Funding: reaching out to potential donors to supplement our own resources.
- Documentation: identifying a senior scientist to draft an overview report of the state of research and potential opportunities -- this is both for the public and our donors.
To stand up the organization we are working on the following:
- Filing for Tax Exemption: Now that we have incorporated we are beginning a 6-12 month process to secure tax exemption from the US Gov't.
- Building our Website: https://syngapresearchfund.com/ is not ready for prime time but we are working on it.
- Establishing Social Media Presence: @syngapfund is our Twitter, please follow us.
The tagline of SRF is Collaboration. Transparency. Urgency. In that spirit we will share all of our grants as we make them. Similarly, we are happy to have parents in the SynGAP community who have a focus on research and science work with us. We are also looking for US based lawyers and web people if anyone has time please reach out. Please get in touch at SynGAPFund@gmail.com
We are based in the Bay Area on the Peninsula, if you are ever in town, please reach out we love meeting other SynGAP families!
My name is Solenne Lafeytaud and I am the mother of 4 children. The 3rd one, Côme, aged 10, was diagnosed with Syngap1 when he was 4 years old. He is followed at the hospital Sainte Justine, Montreal, by Dr. Michaud (the geneticist who discovered this mutation in 2009).
With my family and friends, we decided to create a foundation to support families and fund research in France and Canada.
There are currently about 30 cases diagnosed in France and 20 in Canada, but we know there are many more. That is why we try to make known this genetic mutation through fundraising campaigns (relay races, concerts, etc.).
Our next two events are:
- Meeting of French families on September 22 at Pont Audemer, Normandy, France.
- Relay race in Granby, Canada, September 30, to raise funds.
For the last 3 years since the foundation was launched, we have already had very encouraging results: all the donations collected each year enable us to recruit a full-time researcher on Syngap1 at the Sainte Justine research center in Montreal. We are volunteers and have no running costs, so all our donations are donated to the researcher's salary.
Feel free to visit our site- http://www.overcomesyngap1.org/
or our Facebook page - https://www.facebook.com/Overcomesyngap1/
and to join us at the two events of September!
My name is Sarah Morris and we have an 8 year old boy with the Syngap1 mutation.
In the UK we have around 50 patients, largely thanks to the DDD study, which although closed to applications for genetic exome sequencing, it is still diagnosing syngap patients. We recently had our first patient diagnosed by the 100,000 genome project, which is still taking referrals for genetic testing.
In June we had a family meet up at Thomley centre, near Oxford. This is the second time syngap families have met at this wonderful venue. Our children loved the large grounds with adapted tricycles, trampolines and swings, sensory rooms and soft play. And parents had an opportunity to talk and catch up with friends and meet newly diagnosed families.
We have two meetups hopefully coming up.
One in the north of England, please contact Emma Howe at firstname.lastname@example.org . Details to be arranged and ideas welcome for venues.
The other in the beautiful city of Bath. This one is for parents only! For relaxation and having some fun! Details to be arranged. Please contact Sarah Morris at email@example.com
Edinburgh University will be hosting our first conference/family meet! The scientists from Edinburgh University have been studying Syngap1 for quite some time. Speakers and details to be arranged, but we have a tentative date of June 21st-22nd at Edinburgh University. There will most likely be a clinic for the scientists and drs to meet the children.
Edinburgh University have been working on a research project which will be starting very soon. They aim to collect data from our children by coming to our homes! It is a unique and hopefully reliable way of collecting data. Details to be confirmed!
If you wish to get involved with fundraising for our UK conference, please contact Melanie at firstname.lastname@example.org
We are the Williams family. We have two syngap daughters; Jaeli 8 and Dali 6 who received their syngap diagnosis in February 2016. Since then.... - Two factors have contributed to us connecting to the epilepsy community here in Australia. Our first diagnosis was epilepsy and also we are fortunate to have one of the best paediatric epileptologists in the world as our neurologist, Professor Ingrid Scheffer. - We have partnered with the Epilepsy Foundation and they provide fiscal support by managing our syngap research fundraising page, collecting the funds and ring fencing our donations. We have raised $29,144 with an aim to direct these funds to the syngap research effort in Australia - We lobbied the Australian government for funds to research genetic epilepsy and on world epilepsy day this year (Feb 26), the newly created Epilepsy Foundation Research Fund was awarded $2m for genetic epilepsy research. The first $500k was awarded for a specific purpose- to study Syngap. Syngap researchers can also apply for the remainder of the $2m - $500k will be provided to the Florey Institute in the next few weeks to kickstart the Syngap research project we helped to co-ordinate. A dedicated researcher will be recruited to work in the two year project of research using antisense oligonucleotides (ASOs) via RNA, in an effort to repair the syngap mutation - In May, together with a few other genetic epilepsy families, we held our second Genetic Epilepsy Team Australia (GETA) conference. For the first time, there was a strong Syngap contingent, amazing presentations from global syngap researchers. It was a great opportunity to connect local and global interested syngap parties. 3 Professors described their progress in finding a cure for our kids. One is close to a clinical trial, one is currently performing a small trial and the other is about to commence our Australian project using the latest Precision Medicine techniques. It was exciting to hear that recent lab trials have been successful in reversing the effects of Syngap. - Professor Scheffer is on the Syngap medical advisory board and played a crucial role in the conference. - If you want to see the presentations, Professor Poduri, Professor Rumbaugh, Professor Scheffer and Professor Petrou all talk about syngap. Catch the footage here: https://www.youtube.com/channel/UCSUFtTaJQjoEoBEchtMzm8w - The conference also provided a great opportunity to connect with 7 of our known 11 Australian syngap families and Monica Weldon from Bridge the Gap made the journey to attend.
- The next GETA conference is scheduled for May 4, 2019 in Melbourne Australia. - Our goal is to have at least one Australian researcher focused on Syngap research as a constant, until we find a viable treatment. - In the next 6 months, we’re looking most forward to finding, connecting and re-connecting with our syngap family.
We truly believe amazing things can happen through collaboration.
my Name is Verena Schmeder. My son Jamie is nearly 5 years old. I have a Bachelor degree in "International Business and Management" and I was the co-leader of a patient support group for my own rare disease for 10 years. When it turned out that my little one is a special needs kid, I decided to focus my efforts on his rare disease.
I am the leader of the German Syngap Family Support group called "SYNGAP Elternhilfe". To date we count 20 syngap patients in Germany. We have 6 more German speaking families living abroad, who are participating in our group. And we know for sure that there are more out there.
Our ways of group communication
Everything started with a small WhatsApp group. Meanwhile we set up a website http://www.syngap.de and added a German Facebook group. Where we can be in touch nearly every day.
Events we attended
In 2016 we had an information stand on a conference about "syndromic autism" at a famous epilepsy center.
In the end of 2016 we took part in the 1. International Syngap Conference for families and researchers in Houston Texas. We plan to attend more conferences in the future.
As it is really challenging for our families to attend one big national Syngap meet-up, we decided to have several small meet-ups in local areas. In 2017 we had amongst others meetings in Vogtareuth (Bavaria), Berlin, Leipzig and Bremen. Hopefully we will manage to have a big syngap family weekend in 2019.
In summer 2017 we supported a small research project of the "Schön Klinik" Vogtareuth/Bavaria about "eating epilepsy" in syngap kids. It was supported with videos and data of syngap kids by international families from Australia, France, United States, Switzerland and Germany. The results were already presented at two conferences.
Annual Meeting of the German Society of Epileptology in Fürth/Bavaria (Germany)
Genetic Channelopathies Conference in Copenhagen (Denmark)
Hopefully the paper about "Eating epilepsy in SYNGAP patients" will be out soon.
In future we will work together with our international friends from SGN to support research. Today we reached out to 2 German researchers, who will work together with Jacques Michaud.
Some of our active patient families are engaged to spread syngap awareness in social media. We mainly do that in groups for GDD, epilepsy and special needs kids. On top we seem to have the biggest population of #syngapbloggers (at least 4 families). This really helps to speed the word SYNGAP. If there pops up a new syngap patient somewhere, our network of friends detects them within about 1 hour to 1 day.
Yet we did not collect any donations as it requires a legal status. However we can and already did apply for health insurance funding for non-profits.
We are still 8 families diagnosed in Spain, although thanks to the diffusion that we are giving SYNGAP1 and its characteristics, families with children diagnosed with other rare diseases have contacted us to know first hand what activities we do, how we organize ourselves , etc.
We maintain telephone contact between families, and we are already talking about a possible next meeting, although we do not know if it will be in the last quarter of this year or at the beginning of 2019.
One of the mothers in Barcelona is working very closely with the San Juan de Dios hospital to try to organize a conference dedicated to SYNGAP1, where the doctors of that hospital can meet our children in person, learn about our stories and have our clinical data to facilitate them, with our consent, to other hospitals or laboratories that can investigate this disease.
But it is something that, due to its complexity, could not be done until at least the middle of 2019.
Finally, we continue to use our social networks to disseminate the SYNGAP1, publicize its characteristics and help other families that have not yet been diagnosed to identify the symptoms of their children.
We keep working and moving forward!
Republic of Ireland
My name is Michele Giblin and I am the Family Awareness Contact for SYNGAP1 in the Republic of Ireland. You can contact me at email@example.com.
On this website (www.syngapglobal.net) you will find a Republic of Ireland Awareness Pack as well as a SYNGAP1 Resource Guide.
My youngest daughter has a SYNGAP1 mutation and was diagnosed in June 2016. There are perhaps four diagnosed cases of SYNGAP1 in the Republic of Ireland, and recently I made contact with one family. We are hoping to meet up in the next six months.
I attended the Rare Disease Day (Ireland) Conference in Dublin in 2017, and this gave me a good understanding of how many rare diseases there are, and also how things work in relation to orphan drugs, and also about supports and structures within the EU and globally (eg. European reference Networks, Orphanet). I met some really helpful people.
Through IPPOSI (The Irish Platform for Patient Organisations, Science and Industry ), I also met great people who are advocates for their own rare disease organisations.
I also attended the ICIC Conference (International Conference on International Care) also held in Dublin in 2017. I learned a lot about the commonality of needs across all patients and families with diseases (rare or otherwise), and also age related diseases. This is an international conference held in May of each year.
All of these combined, enlightened me to the importance of making connections , thinking wide, and working collaboratively across the many organisations in Ireland and also beyond, who have common themes around rare diseases and total care needs.
I also work closely with my local intervention services and always look for opportunities to improve care outcomes for our special children.
I hope we can Connect Local and Collaborate Global to better enable our SYNGAP1 families.
Hello, my name is Robert Punt. I live with my wife and four children in the Netherlands. Our youngest kids are identical twins with the syngap syndrome. They are 3 years old and we know they have syngap for 1,5 year.
The Dutch and Belgium Facebook group has 38 members. And we are starting to have our first family meeting.
We have taken part in a TV show with our private funding to get a wheelchair bus. After that we were asked for an tabloid where my wife told her 'secret' story about the twins.
Swiss consist of only two syngap families, both of which are representing SGN Switzerland.
No event are planned yet but as the main country languages are French and German, we will leverage French and German events and meetings when possible.
No specific funding effort exists in Switzerland and the main efforts are around content creation for SGN (videos, pictures, texts ...).
My name is Reetta and I have a Syngap daughter Ilona born in 2007. Ilona is half French and half Finnish and even though we live in Montréal Canada, I represent Finland in the Syngap Global Network.
Ilona was diagnosed by Dr. Michaud in Montréal in 2011 and she was one of the first children to receive the diagnosis. At the time very little was known about this gene, and there was no community around the mutation. We are now happy to know so much more of our children and their possibilities in life.
There are currently 2 Finnish individuals diagnosed with Syngap besides us. I will be happy to connect with anyone new to this diagnosis!
My name is Charlotte Nordholmen. I live in Norway with my boyfriend and our two children. Lilly, 4 years with Syngap and Kevin, 1 year. Our daughter was diagnosed in June 2016.
As far as I know there are 5 patients with Syngap in Norway.
Just recently started a Facebook group; «Syngap1 Norge» for families in Norway. No planned family meeting or events yet.
Best Regards Charlotte
My name is Sandra Winkler and I do live in Austria. Our little 2 year old son is currently the only one in Austria. We have set up an org called www.leonandfriends.org (it will be available in English soon). We will work together with the University of Vienna on an early stage screening sheet and do hope to find new Syngapians soon. Also we will organize a research. Research details are not fixed yet. We will have three newsletter articles in the next few weeks. I have also contacted the Austrian Epilepsy foundation and Autismn group. We have started with crowdfunding and raised EUR 16.000 in one week now.