Understanding Velo-Cardio-Facial Syndrome (VCFS)
by Dr. Robert Shprintzen
Tuesday, March 24, 2009
Quinn's Guide to Friendship, Dating and Self-Confidence
Velo-cardio-facial syndrome, usually called VCFS for convenience, is listed as a rare disease because it occurs in less than 200,000 people in the United States. This is the equivalent of a population prevalence of 1 in every 1500 people. However, VCFS is one of the most common multiple anomaly sy...
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Anonymous
Friday, April 03, 2009 at 12:20 PM - Truncus
mrscpyle
Tuesday, April 28, 2009 at 11:57 PMHi Dr.Shprintzen,
My son Brett is 29 years old and has Truncus type 1 and suffers seizures and ITP and we just found out he has DiGeorge Syndrome.Brett was born 6-24-79 I was wondering
why did it take almost 30 years before finding out?is this common?It just seems to me
with all the Doctors he has had someone would have discovered it.Thankyou Cheryl Pyle
replyre: Truncus
Dr. Robert Shprintzen
Wednesday, April 29, 2009 at 10:41 AMCheryl,
It is not really possible for me to answer that question. Because Brett was born at the earliest time in the process of understanding VCFS, at that time, very few people knew about it. The diagnostic tests to identify the deletion from chromosome 22 were not available until 1993 in some places and later than that in most places. Sometimes it is simply an issue of being in the right place at the right time.
<!--StartFragment-->
Dr. Robert Shprintzen, Director
Professor of Otolaryngology
Professor of Pediatrics
VCFS International Center
Upstate Medical University
Syracuse, NY, USA
Center web sight: www.vcfscenter.org
Center email: vcfs@upstate.edu
<!--EndFragment-->
replyre: re: Truncus
mrscpyle
Tuesday, June 23, 2009 at 01:47 PMDear Dr.Shprintzen, I'am sorry for posting the same question I saw your answer after I asked it again.Thankyou for taking the time to answer me but it's still hard for me to understand how this could have been over looked for so long.Brett has suffered all of his life in 2001 after his third open heart we almost lost him he was in the hospital for 13 weeks it was awful.It's nice to to talk to a doctor who knows so much about this syndrome.Thankyou again Cheryl Pyle
reply - Di George Syndrome
mrscpyle
Tuesday, June 23, 2009 at 01:34 PMI have a question, is it normal for us to just now to be finding out that our 30 year old son Brett has Di george syndrome? he has Truncus type 1 and has had three open heart surg.He also has I.T.P and sezures and many other problems.How could the Doctors have over looked this?I'am not happy! I feel Brett has suffered because of not being treated for this syndrome.Thankyou for your time Cheryl Pyle (Mother)
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Would you be interested in coming to Ottawa, Ontario Canada to speak about your experience?
Learning Disability Resources, Tips and Tools
Dear Dr. Shprintzen
I am a teacher in Apple Valley, California. I know of a 10 year old student who fits the description of VCFS. He cannot be understood by anyone except his family and myself when he speaks and is having a very difficult time in school. He looks different from his parents. He is currently in speech to no avail and is falling behind in school. His behavior is worsening as his frustration grows. He is an intelligent young man who wants to be a veterinarian. Do you know of a doctor in this field I can recommend to the family? Are you taking patients and how can we reach you?
Thank you, Debbie Priestley
e-mail---priestgj@verizon.net
phone---(760)961-0409
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