I wanted to answer some of my blogging friends who have asked me how they could do their part in spreading awareness for Bella and I and the disorder we have.
Now is your chance to help promote something that effects both Bella and I.
Helping others who have 22q vcfs and I want your help to bring awareness that adults and children have this disorder and no two people with this disorder are effected the same way. That is the message I need to get across.
VCFS Awareness 22q11.2 August 28 wear pink and blue. I want the usa to also take part if they are not all ready doing so.
Friday Aug 28 is wear Pink and Blue in support of VCFS 22q around the world.
This is what Bella and I have. I have been living with this genetic disorder for 32 year years and raising a beautiful girl named Bella
Today I want to share the below post from the VCFS FACEBOOK Page
Use the image of the puzzle piece for your profile photo on Twitter and Facebook to help spread awareness.
Very sad news from America – VCFSEF (VCFS EDUCATION FOUNDATION) is saying “Good Bye”
It is with sadness that the VCFSEF’s 22+ year era of sharing knowledge and hope is coming to a close. But as the quote below states, new experiences await us all. Thank you to all who have contributed to this worthy organization.
Founded in 1992 by Dr. Robert Shprintzen along with a small number of dedicated families and professionals, the “EF” has provided information, resources, and networking opportunities for hundreds of individuals, families, lay people and professionals, alike, for the past 23 years from all around the world (France, Spain, Italy, UK, Africa, Asia, Australia). We owe a debt of gratitude to our founding director,
Dr. Robert Shprintzen, (a.k.a “Dr. Bob”) for his vision and tireless clinical, research and educational efforts. Even after his tenure as executive director came to an end, he served the Foundation in an advisory role helping the “EF” to maintain international connections, support state-of-the art research projects and provide social networking opportunities through our annual international scientific meetings. To this day he continues to share his expertise about the syndrome through the Virtual Center for VCFS. Dr. Shprintzen has figuratively, literally, and “virtually” touched so many of our lives. We cannot thank him enough for his ongoing commitment to individuals, families, and the professionals who are involved with those affected by the syndrome.
In 2004 the leadership torch was passed to Dr. Shprintzen’s long time, respected colleague, Dr. Karen Golding-Kushner. During Dr. Golding-Kushner’s tenure, the Foundation expanded its presence in the world holding international meetings in France, Italy, and Australia. Dr. Golding-Kushner’s diligent oversight of the VCFSEF resulted in the creation of a website, regular newsletters, and informational brochures about VCFS translated into multiple languages. Dr. Golding-Kushner continues to provide guidance to families through the Virtual Center for VCFS.
In 2011, the proverbial torch was again passed to the very competent hands of Dianne Altuna who, as the third executive director, expanded the educational aspect of the foundation by providing webinars on relevant topics with cutting edge information for lay and professional people on a wide variety of topics. Under her leadership, funds were established to support the learning and social networking needs of young adults with the syndrome through regional meetings and social events. (Via www.vcfsef.org)”
I had some readers ask me what were my experience with the VCFS foundation over the years.
I am sharing the above post because I wanted to express my desire to still continue to bring awareness. It was about 10 years ago that I had discovered I had 22q11.2 deletion velocardiofacial syndrome DiGeorge syndrome. As you see all of these names were on the FISH test that I took to discovered that’s why I wont change the name for others convenience. After my siblings were tested positive my parents were tested too and then my father was tested positive for VCFS all test minus my step mothers came back positive.
I was tested because she does not have 22q12.2 deletion vcfs DiGeorge syndrome but I did. Same father different mother. Was the reasoning to have testing done on me. My father was the carrier. There is huge debates on weather or not this can be passed on from one generation to the next. There have been family’s who I have chatted with online even back then who have only had one child tested positive or one adult tested positive and none of the other family members had it. It’s kinda like a nasty game of Russian roulette. There is always a 50/50 chance. There is even a 50/50 chance that I could have another child with out the disorder or have a child with the disorder.
At the time I was part of the online community there was nothing on adults who were older then 19 years old. I have searched and then found some friends who are well beyond my age who I have developed virtual friendships. There was a chat with some Doctors and it offered encouragement and support over the years and I am forever grateful to them for passing on their knowledge because with out them I would be lost I wouldn’t know what to look for when it comes to how it effects me because physically the only thing different with me is I look younger then my age and I have stomach issues. I also had a very high risk pregnancy when I had Bella. I was 24 when I became pregnant but I knew I had this disorder since I was 21. My husband has been my biggest support we have had our ups and downs but he has stayed with me though my illness and health. I am always finding out new things when I go to the doctors.
I know what it comes to look for when it comes to Isabella because of my siblings also having it. My 6 year old brother passed away and he too had it. I have a half sister and a half brother who also have it who are in their teens now late teens who will be entering adult hood. There symptoms were sever as a child but over the years have gotten better with time and care. My father shows no signs other then he recently had a mild heart attack. I am almost sure my grandfather had it as well but he was too stubborn to get tested so we will never know if his heart attack was do to his other health issues or a genetic link. I don’t get to talk to them do to the relationship with my father so I can’t tell you much more about that here on my blog.
I have had Bella seen by a heart specialist 4 different heart specialist to double check and she has been discharged each time healthy as a ox just like me while when it comes to heart issues. We also have multiple minor issues like she has a mild form of spastic cerebral palsy and I have gasteropareses I have just been diagnosed 2 years ago with my stomach disorder but I have been living with the knowledge I have had 22q11.2 deletion VCfS which is sort for velocardiofacial syndrome. This syndrome also effects everyone so differently that is why it is important that awareness is given. Knowledge is power.
Aug 28th is VCFS 22q11.2 awareness day and my desire is for anyone who reads this to wear pink and blue and if you have me on Facebook or twitter tag me with VCFS 22q11.2 awareness showing your wearing pink and blue.
I would love to have VCFS 22q11.2 trending on Twitter.
Change your profile photo for a week to the puzzle piece
Wear pink and blue
No you don’t have to donate to the foundation or even to my blog. I don’t blog to earn a income any ways.
Just wear Pink and Blue and take a picture to support us on Facebook and Twitter.
tag me in it if you like and say hi
Are there causes you like to help support and spread awareness for ? That I can help return the favor if so let me know in the comments below.
Thank you everyone for all of your encouragement and support since I have started blogging about our medical journey.