VCFS 22q11 Awareness Week

Hi everyone,

I have been very busy lately and I haven't blogged for a while. So now is the perfect time. This week is the VCFS 22q11 Awareness week in Australia and in many other states across the USA. I feel its is very important for us to share information about this condition.

VCFS affects approx. 1 in 2000 - 3000 persons making it the second most prevalent genetic syndrome after Down syndrome

VCFS is the most common genetic syndrome associated with cleft palates

VCFS is the second most common genetic syndrome associated with congenital heart defects

99% of the VCFS population will have a learning difficulty or disability

30% of the VCFS population will develop a mental illness

VCFS has more than 180 anomalies associated with it

I read an article the other day where a man was not diagnosed until he was 43 after 30 years of seizures!!!! Why oh why does this have to happen. If VCFS 22q11 affects 1 in 2000 why on earth do most professionals in the medical industry not know about it?? LETS CHANGE THAT

It doesn't take a lot to spread the word. I urge all of you to share information about VCFS 22q11 on Facebook, Twitter and all other social media avenues. Email friends and family world wide. Share a link to our website.

I am dedicated to making this disorder a household name. Some might say its a bit of an obsession with me. Well they may be right. I just feel that I cannot sit back and let people go untreated, mis diagnosed or not diagnosed at all .

Please help me on my mission!!!

Maria Kamper
President
VCFS 22q11 Foundation
http://www.vcfsfa.org.au/

VCFS 22q11 Foundation Conference Sydney 2011

2011 Conference & AGM

28th August 2011 , 9.00am

The Children’s Hospital Westmead

Lorimar Dodds Auditorium

                              

AGENDA

8.30am                Registration / Morning Tea

9.00am                Maria Kamper - President Welcome

9.10am                Laurie Taylor – AGSA , What does AGSA do & Sibling workshop

9.30am                Tony J. Simon, Ph.D , UC Davis M.I.N.D Institute  -Integrating Cognition, Emotion & Psychiatry for Treatment in 22q11.2DS Via Video

10.00am              Dr Linda Campbell – Centre for Brain and Mental Health Research University of Newcastle

10.30am              Madeleine Randell (Hons student) - "Attitudes to sexuality, relationships and parenting

10.40am              Emma Gallagher (Prof Doc Clin Psych student)- Depressive symptoms in adolescents with velocardiofacial syndrome as they transition into emerging adulthood"

10.50am              Lisa Phillips (M Clin Psych student) -"How do young women with Velo-cardio-facial syndrome view their personal relationships, sexuality and parenthood?"

11.00am              Brooke Sinderberry - (PhD candidate) "Resilience in children with chronic illness"

11.30am              Neil Nicoll – Behavioural Psychologist -  Social Skills

12.00                             AGM

12.15 pm              Lunch with the Experts

Meredith Wilson – Clinical Genetics Westmead Childrens Hospital

Neil Nicoll – Behavioural Psychologist

3.00pm                Kathy Angkustsiri, M.D., Behavioral Pediatrician, UC Davis M.I.N.D Institute -  Anxiety in Children with 22q11.2DS and its Effect on Functioning Via Video

3.30pm                Maria Kamper – VCFSEF 18^th Scientific conference review

4.00pm                Afternoon Tea

Workshops

9.30am – 3.00pm        Sibling Workshop (children to join craft at conclusion of their workshop)

9.00am – 4.00pm        Craft/Activities Workshop

Treadmill for 22q

On the 25th August 2011 a very special person will be taking to the treadmill in her local gym to raise awareness of VCFS/22q11.2 Deletion Syndrome. @carolinedwyer found out her daughter had 22q only recently. Her daughter is 13 years old.

Our website http://www.vcfsfa.org.au/ will soon have details of how you can sponsor or donate to Carolines treadmill walk. All money will go towards the VCFS 22q11 Foundation.

We will also soon have wrist bands to support this cause as well.

If you have any prizes you could offer as a donation towards the raffles Caroline will be holding during this walk please contact the foundation.

It is so great to see so many people taking the challenge to raise awareness of 22q and VCFS.

It is the 2nd most common genetic syndrome in teh world but still so many  parents are waiting so long to get a diagnosis. We need to bring this syndrome to the pulic arena and help others who have not been diagnosed

22q at the Zoo 65 Cities

If you are a part of the VCFS/22q11 community it would have been hard for you to miss out on all the hype that has surrounded the last 24 hours across the world in relation to VCFS/22q11.2 deletion/DiGeorge/Shprintzen Syndrome etc..

In 65 Cities and in more than 13 countries spanning 3 continents thousands of people joined in the campaign to raise awarenss of 22q11.2 Deletion Syndrome. The second most common genetic syndrome in the world!!!

This initiative began as a local awareness campaign organised by the International 22q Foundation, the 22q and You Center and The Dempster foundation, however with social media it has become a phenomenom for all those affected by 22q11.2 Deletion

It really doesn't matter what organisation you are a part of, support, rely on etc...  This day has proven that we are a community. A community of medical professionals, patients, celebrities,  families, educators, not for profit groups and support groups.

Our qualifications, prestige, celebrity, income and demographics were pushed aside for the first time and we were all equal and joined in our reasons for being a part of this day. That is to RAISE AWARENESS OF 22q 11.2 DELETION SYDNROME.

Lets keep this rolling, lets continue to be united as one, lets forget the arguments about what it should be called, lets put our egos aside, lets learn from each other!!!!!!!

We are all in this together that is for sure. Lets remember the saying

"UNITED WE STAND DIVIDED WE FALL"

Congratulations to each and every member of the VCFS/DiGeorge/Shprintzen and 22q community.

Maria

VCFS 22q11 Foundation: 1/2 Marathon for kids with VCFS

VCFS 22q11 Foundation: 1/2 Marathon for kids with VCFS: "This year we not having a fundraising dinner for VCFS, however we do have a fantastic guy/ parent of a VCFS child who in the past 3 ye..."

1/2 Marathon for kids with VCFS

This year we not having a fundraising dinner for VCFS,  however we do have a fantastic guy/ parent of a VCFS child who in the past 3 years has turned his life around from fat couch potato to Iron Man.

He is 3 weeks away from participating in the Port Macquarie ½ Iron Man Marathon. He is running for VCFS and raising funds to  help send the kids on a much needed retreat/camp. This would be the first camp of its kind in Australia for VCFS Kids.

I urge you to read his blog and if you are able donate to the cause,  so all the kids get this fabulous opportunity.

Also remember to send Scott a word of encouragement.

Sometimes it takes special people to go out of their comfort zone to help raise awareness and money. I know there are many people in our communities that do this, but obviously this is one close to our heart. It is people like Scott that make me feel like all my work on the VCFS 22q11 Foundation is worthwhile.

http://slongden.wordpress.com/

You can also visit the VCFS site for details  www.vcfsfa.org.au

Scott in action wearing his VCFS hat.

PS: We are having a VCFS 22q at the Zoo day on May 22 . Just $14 pp  A fun day at the zoo that’s it! see our website for details http://www.vcfsfa.org.au/

WHO'S WHO OF VCFS / 22Q

As we know VCFS has many names and here is a list of the most common

• Velo Cardio Facial Syndrome
• 22q11.2 Deletion Syndrome
• DiGeorge Syndrome (DGS)
• Shprintzen Syndrome
• CATCH 22
• Conotruncal anomaly face syndrome
• Cayler cardiofacial syndrome

Whatever the name we are all in the same position; looking for information and support.

I have been chatting a lot lately to many different people and organizations from around the world and I must say it can be confusing trying to figure out who is who and which organizations are support groups or for research,  which are treatment programs and which ones are information/education organizations.
Well I have decided to group some of the main organisations so we know who is who of VCFS and 22q. There may be many more, however these are the ones I know. The information about each organisation has been taken directly from their websites and are not necessarily the views of the VCFS 22q11 Foundation or myself. I am not connected to any of these organisations except the VCFS 22q11 Foundation Australia of which I am president. I am a mother with a child who has VCFS/22q11.2 Deletion Syndrome.
I felt it important to separate the organisations to help us as parents understand what each organisation is for and what each can offer us as parents.


What I as a parent and President of the VCFS 22q11 Foundation would love to see in the future is all these groups coming together to form a collaborative or alliance to share information and treatments for the betterment of those affected and to assist in raising awareness of VCFS/22q across the international community.


Education Organizations


VCFS Education Foundation – http://www.vcfsef.org/ 
The Foundation is an international not-for-profit organization dedicated to providing support and information to individuals who are affected by Velo-Cardio-Facial syndrome, their families, physicians and other practitioners. The Foundation is independent of -- and not affiliated with -- any particular institution. The foundation is run by volunteers and the head of the foundation is currently Executive Director,  Karen J. Golding-Kushner, Ph.D.


The VCFSEF is the only group I can find that is absolutely for education and information of VCFS/22q11.2 Deletion Syndrome. They are Not for Profit. They have an international conference every year and everyone in the VCFS/22q community internationally is invited to present and attend the conference. They are NOT a support group; they are NOT a research or treatment group. Their mission is to increase awareness and disseminate information to educate those with an interest in the syndrome. They provide clinical and research information for professionals and for those affected, and provide educational, clinical, and scientific information to the professional and lay communities. They do not recommend any treatment program over another, they do not recommend any support group over another, they do not provide funding for research, and they do not offer financial assistance for any person or organisation.


It is important to understand that the VCFSEF is purely to provide Education and Information about VCFS/22q to the international community. They do this through their website, conferences and newsletters. 
To me this is one of the most important organisations in the world. They provide unbiased information to aid in the education of the community about VCFS/22q11.2 deletion Syndrome.  I personally would urge all people in the international VCFS community pay the USD$40 membership so the conferences can continue in the future.


Treatments/ Research Centers (in no particular order)


M.I.N.D Institute (UC Davis CA) http://www.ucdmc.ucdavis.edu/mindinstitute/research/cabil/


The MIND Institute's Cognitive Analysis and Brain Imaging Laboratory (CABIL, pronounced "cable") is directed by Dr. Tony J. Simon and funded by the National Institutes of Health. CABIL's mission is to investigate, explain and eventually treat the impairments in cognitive function experienced by children with neurodevelopmental disorders.


Upstate University Hospital NY http://www.upstate.edu/uh/ent/vcf/ 
VCFS Center


In 1997, Dr. Shprintzen established the most comprehensive program designed to assess the needs of people with VCFS and to develop the most effective treatments.  The Center has a faculty of over 30 professionals from more than 20 medical and ancillary disciplines who are devoted to the special needs of children and adults with this common genetic condition. The Center is a full time program with the most comprehensive care available anywhere and a large and active, full time research program devoted to this single disorder.

Children’s Hospital of Philadelphia 22q and You Center 

www.chop.edu/service/22q-and-you-center/home.html 


At the "22q and You" Center — established in 1996 — The goal is to provide the finest diagnosis, treatment and follow-up services to these children and their families. They also continue to lead the way in researching the 22q11.2 deletion, hoping to find out more about what causes it, how it affects children and how we can make their lives even better.
The national and international medical community recognizes our Center as the premiere site for the diagnosis and multidisciplinary management of children with a chromosome 22q11.2 deletion. Our staff includes geneticists, genetic counselors and other medical personnel specializing in the disorder.


The VCFS Clinic at Mater – Brisbane Australia
http://www.mater.org.au/Home/Services/Velo-Cardio-Facial-Syndrome-Clinic


The VCFS clinic at Mater has been developed to support children and young people to the age of 18 and their families. The clinic is co-ordinated through Kids in Mind and involves professionals from other parts of Mater Children’s Hospital.
The children and young people who attend the clinic may already be supported by other teams within Mater Children’s Hospital, other hospitals and other health professionals. The VCFS Clinic has been established to assist families coordinate their child’s care between a number of health practitioners while also helping to reduce gaps in services where they exist.
The clinic has two primary aims:
to provide coordination, clinical, and support services for children and their families

to have a significant research role in Australia and with international experts.

Chromosome 22q11.2 Deletion Syndrome Specialty Clinic - Colorado http://www.thechildrenshospital.org/conditions/genetics/22q.aspx


The Chromosome 22q11.2 Deletion Syndrome Specialty Clinic at The Children’s Hospital evaluates children with 22q11.2 Deletion Syndrome and provides comprehensive management and ongoing multi-disciplinary care for children and families affected by the syndrome. Our specially trained clinicians, who work with specialists at National Jewish Health, provide patients and families with the resources necessary to understand the diagnosis, determine the appropriate treatments and therapies and cope with the challenges involved with the syndrome.


I am sure there are other clinics across the international community. I have listed the most commonly known about clinics.


Support Groups
There are many groups around the world for the support of VCFS/22q11.


The VCFSEF has Regional Directors that can put you in contact with a support group in your area. http://www.vcfsef.org/international_network/about_international_network.html Visit the web site for information.


The VCFSEF United States Support groups Link http://www.vcfsef.org/support_groups/us_groups.html


The VCFSEF International Support Groups Link
http://www.vcfsef.org/support_groups/international_groups.html

As well as this here is a very short list of sites I know;

• VCFS 22q11 Foundation Australia http://www.vcfsfa.org.au/
• 22q Central http://www.22qcentral.org/index.html
• International 22q http://www.22q.org/
• The Dempster Foundation http://www.dempsterfamilyfoundation.org/about_foundation/
• 22q Ireland http://www.22q11ireland.org/
• Max Appeal UK http://www.maxappeal.org.uk/

There are many Social Networking Groups and Chat rooms. I will not list them here; however some of the sites listed do have links to them.


Research
There is much research being conducted across the world. Most of the websites listed above have links to the research projects.  To list them all here would be too difficult. The VCFSEF through the International Scientific Conference has speakers who provide information about the current research and outcomes. The smaller conferences around the world also provide information, results and outcomes as well. Keep yourself updated by regularly visiting the websites listed above.


Remember, support groups are NOT medical advisory groups or services; they are there to offer support and provide information. All medical treatment and related services should be referred through your medical practitioner and your medical care team.


I hope that the information I have given here is helpful and takes out confusion of the Who’s Who for VCFS and 22q.


Cheers
Maria Kamper