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    Archived pages: 427 . Archive date: 2013-10.

  • Title: 22Q Foundation
    Descriptive info: .. Membership Information.. 22q Stories.. 22q Shop.. Press Room.. Contact Us.. Home.. What is 22q?.. Overview.. Newly Diagnosed.. Frequenly Asked Questions.. Our Foundation.. Mission.. Board of Directors.. Scientific and Clinical Advisors.. Financial.. Accomplishments.. Newsletter.. Our History.. Our Sponsors.. Newborn Screening Campaign.. Awareness.. School Bag Campaign.. 22q at the Zoo.. Same Name Campaign.. Events.. 22k for 22q.. Calendar.. 2014 Calendar Contest.. 2012 In Review.. Conferences.. The St.. Joseph’s Feeding Swallowing Approach.. Staff Development Training.. Research.. Bibliography of 22q Articles.. 22q Links.. UNCG-Duke Sibling Study.. Natera Microdeletion Family Triad Flyer.. Natera Microdeletion Prenatal Flyer.. Resources.. For Families.. For Healthcare Providers.. For Educators.. Other.. Give.. Make a Donation.. How Can You Help?.. Fundraising Toolkit.. Take your favorite activity and turn it into a fundraising and awareness event for 22q!.. Read More.. Would you like to volunteer?.. 22Q at the Zoo 2014.. Join us at the zoo and help raise awareness about 22Q on Worldwide Awareness Day - May 18, 2014.. Don't forget to visit our brand new 22q Shop.. 2014 Faces of 22q.. Submit your photo to the 8th annual Calendar Contest.. 1.. 2.. 3.. 4.. Welcome to the 22q  ...   22q11.. 2 deletion syndrome and their families; with your help, we can realize our goals of detection, care, and cure.. To learn more about 22q, please.. click here.. What's New.. +.. Click here to buy your 22q at the Zoo T-shirt! Mark your Calendars for the fourth….. National 22q11 Meeting.. Saturday May 11national 22q11 scientific meeting for parents and health professionals.. Location: Hospital La….. CHOP: 22q in Review.. 22q in Review – With a Focus on Brain, Behavior and Learning Styles 22q and You….. Dragonfly Forest Camp.. Dragonfly Forest, a 501 (c)(3) not-for-profit organization, is committed to offering a year round camp….. 22Q Stories.. See More Stories.. Resources For.. PARENTS.. Content specifically for families.. Living With 22Q.. Newly Diagnosed.. Need Inspiration?.. Birth to Five Years.. School Age.. Teen Years.. Adulthood.. EDUCATORS.. Content for Educators working with kids with 22q.. Connect.. Parents Network.. Physicians.. Become A Member.. Volunteer.. Other Links.. Newsletter Sign-Up.. Contact 22Q.. HEALTHCARE PROVIDERS.. Content for Medical Providers working with 22q patients.. CONNECT.. SHARE.. TRANSLATE.. Accent Color.. Apply.. This site was made possible by a grant from The Robert Wood Johnson Foundation.. PRIVACY POLICY.. |.. COPYRIGHT INFORMATION..

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  • Title: Newsletter Sign-Up
    Descriptive info: This option will not work correctly.. Unfortunately, your browser does not support inline frames.. PAST FOUNDATION NEWSLETTERS.. 22q Orlando Conference Special.. Spring 2012.. Fall 2011.. Summer 2011.. Winter 2011.. Fall 2010.. Summer 2010.. Winter 2010.. Fall 2009.. Summer 2009.. Fall 2008.. Upcoming Events.. No events..

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  • Title: Membership Information
    Descriptive info: Join us….. BECOME A MEMBER of the International 22q11.. 2 Foundation!.. Membership is an important part of our fundraising activities.. Your membership helps sustain the efforts of The International 22q11.. 2 Foundation and provide critical resources for families, medical and educational practitioners globally and affected individuals.. In addition to supporting the Foundation, membership entitles you to the following benefits:.. Discounts.. 22% discount on Foundation Calendar.. 22% discount on select store items*.. News.. Quarterly e-newsletter featuring news, stories and valuable and timely information about the Foundation and the 22q community.. Invitations/Events.. Informational Webcasts and educational teleconferences on a wide variety of 22q related topics.. Updates on critical challenges and advances in  ...   The first in our planned educational series: During the First Years: An Introduction for Parents of Newly Diagnosed Children.. 22q car magnet; pen and wrist band.. A printed copy of “Practical Guidelines for Managing Patients with 22q11.. 2 Deletion Syndrome” (Bassett, McDonald-McGinn, et al) published in August, 2011 in The Journal of Pediatrics (a $30 value in-and-of-itself if purchased from the Journal).. Please won’t you join us?.. For a nominal annual fee of $22 a year, won’t you consider membership for you or someone you know?.. Click here to become a member.. * Select items do not include special events such as 22q at the Zoo Worldwide Awareness Day merchandise..

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  • Title: 22q Stories
    Descriptive info: Jeff Stalker.. Jeff was born on November 23, 1992 and we immediately knew he had a cleft of the soft palate and low calcium levels.. We were told that nothing else was wrong with our son.. We took him home on Thanksgiving Day that year and he immediately began having feeding problems.. We struggled with these feeding problems for a few months even though we were constantly taking him to see the pediatrician.. We finally ended up at Children’s Hospital in Omaha, NE, because Jeff was failing to thrive.. We began feeding Jeff through an NG tube and hoped that our struggles were over.. They were not.. The feeding issues improved, but his constant infections and croupy cough continued to worsen.. It wasn’t until Jeff was six years old that everything fell into place.. The doctor that had been treating Jeff for asthma knew that there was something else wrong with Jeff and sent us to see a Pulmonologist in Omaha.. After a chest x-ray and many other tests it was discovered that Jeff had a right-sided aortic arch and vascular ring (which is a ring of vessels tightly surrounding Jeff’s trachea and esophagus).. At that point the 22q FISH test was ordered and came back positive.. The diagnosis explained everything that had been wrong with Jeff over the years: feeding difficulties, immune system deficiency, breathing difficulties and croupy cough! A month later Jeff had surgery to separate the vascular ring and things began to improve.. Jeff’s aorta will always compress his esophagus, but it doesn’t ever seem to slow him down.. He’s an awesome kid who has made our lives amazing!.. Alannah O’Malley.. Alannah was born on 7th May 2006 after a normal pregnancy and very fast delivery.. All appeared fine and we were thrilled with our little girl.. She didn't feed that well in her early months and the GP was a bit concerned about her weight which was "yo-yo-ing" but despite various checks with various medical professionals, nothing was pin pointed until she was 4 months old.. The worst day of our lives occurred on September 22nd 2008, when we went from having a happy but skinny little girl, to having a happy, skinny little girl which a heart condition.. The next day she was in emergency surgery and 2 weeks later we received the diagnosis of 22q11 deletion.. There's no denying that her first year was tough on all of us (big brother Louis included), but we kept things steady thanks to the amazing help and support from Grandparents.. There were numerous hospital trips, sicknesses and bugs too many to remember, nights spent coughing and vomiting.. I could go on! Alannah spent her 1st birthday in intensive care at the wonderful Brompton Hospital recovering from major heart surgery.. Development was slow until she was around 3/4 years old but then we seemed to turn a corner.. Nursery (with a Learning Support Assistant) did wonders for her and she moved on in her appropriate year group, to a mainstream primary school in September 2010.. She has thrived at this school and has such confidence now that we would never have imagined possible.. Sure, some things are still difficult for her but she has friends, she can talk, she eats, she can read, she can spell, she can add and subtract - all things that we were not sure would ever happen for her.. We know that it won't always be this way and that more heart (and possibly other) surgery will be needed soon, but we are grateful every day for the way our eyes have been opened and our lives changed, since having Alannah.. Elise Satterfield.. I'm Elise and I was diagnosed with Deletion 22q when I was 7 months old.. My first 7 months of life were difficult and I ended up being flown into St.. Louis Children’s Hospital with two respiratory infections.. There, a team of doctors began genetic testing and found that I had Deletion 22q and that I am the first in my family to have it.. From that point on I went through a series of specialists and especially the ENT because I have frequent ear infections, ear tubes and hearing aids.. I have also had my front four teeth capped, four molars capped and two of my bottom teeth pulled due to decay from asthma medicine and Deletion 22q.. I am little yet determined and fearless.. My therapists and teachers at daycare think I’m pretty smart for my age and I love a good challenge (child locks, unreachable places, hearing aids).. My audiologist gets a kick out of the ways I can take apart hearing aids however I have to thank Mickey Mouse Club House for being my encouragement to wear my hearing aids (nicknamed my ears).. I think they made a theme song just for me, “…we have ears, say cheers!” is my favorite part.. Isaac Davies.. During pregnancy with our first child, we found out our son had a serious heart condition – Tetralogy of Fallot.. We were told he might have 22q11 but decided not to have him tested until after he was born.. Isaac arrived pink and screaming after a quick and easy labour.. The baby doctors checked him over and we had blood from his umbilical cord sent for testing.. He was (and still is!) perfect to us, but the test came back positive after 2 weeks.. We had prepared ourselves for this and were ready for the challenges and rewards we knew he was going to bring us.. Isaac had open heart surgery at 6 months old and recovered amazingly.. He is now a happy 14 month old who is developmentally very close to his peers.. He loves waving and clapping and just started cruising round anything he can stand against.. He has poor immunity which has led to a few hospital stays with nasty infections but has always bounced back.. We love him to bits and couldn’t imagine life without him!.. Jonathan Christopher Adams.. Jonathan (“John”) Christopher Adams is now 21 years old.. He was not diagnosed with Chromosome 22q 11.. 2 Deletion Syndrome until about the age of 13.. He also has been diagnosed with Autistic Spectrum Complex.. John will be graduating from High School in June 2012.. He lives in south-central Pennsylvania in the small rural town of Richland, Lebanon County, with his parents.. John's mother, Tara Myers, is a Nurse and a Parent and Child Advocate and Mentor, who is a frequent contributor to the many online support groups.. John loves music and his electronics (laptop, iPod, cell phone, CD player).. He has two sisters and loves to spend time with his grandparents in a nearby county.. During his lifetime thus far, John has shown incredible talents and gifts, like writing poetry (he was published in the “Young Americans” series of books), painting and drawings, playing the piano (he taught himself to play “Fur Elise” by Beethoven in 5.. th.. grade, for a Talent Show – by heart, just from listening to the song), and singing.. In 2009 John made his own professional CD, writing and composing the lyrics and music, called “Jadez Life.. ” He has sold numerous copies of his CD.. Within this past year John has obtained his driver's license and is in an employment training program.. Parker Campbell.. Parker was born in Portland, Maine in February of 2005.. The first thing everyone said when they saw him was "Wow, he has the tiniest mouth I've ever seen!" Parker also had an extra toe and immediately spit and threw up out of his nose.. As time goes on he has had cancerous moles removed from his scalp, faces chronic painful constipation, had multiple hernia repairs, has an enlarged aortic root, has problems with his parathyroid, and was/is late in meeting most developmental mile stones.. The quantity of random symptoms didn't connect for our local pediatrician.. It wasn't until Parker was 3.. 5 and still non-verbal that we began to feel really frustrated and concerned.. He was finally diagnosed with Velopharyngeal Insufficiency (VPI).. In determining treatment for his VPI, we arrived at Children's Hospital Boston.. The oral surgeon immediately recommended that we see their geneticist.. After meeting Parker, hearing his story and a blood test, the geneticist quickly diagnosed Parker with 22q11.. 2.. Through the consistent specialist appointments, multiple therapies and so far six surgical procedures, he continues to grow, develop and face challenges every day.. Parker loves his cat "Watson Niles Buddy" and dessert! We are thankful for access to information that allows us to prepare for what we may face in the future.. We love Parker and pray that his life will be filled with countless happy memories and all the success he deserves.. Noah Wilson.. Noah is five years old and one of the most amazing children I have ever met! Some of Noah's favorite things include riding his bike, swimming and playing mini golf! When I had Noah he was 7 pounds 7 ounces and healthy as could be! It was around six weeks old that Noah first got sick, and I started to question things.. From that point on numerous little things started happening to Noah all of which added up to the genetic testing and discovery of the deletion when he was three and a half.. I cried mostly but was also so relieved to have an answer, and something to start treating! We have been so extremely blessed although Noah faced numerous small issues like speech and being smaller than most kids his age he does not face any heart kidney or spine anomalies! We are so truly blessed to have Noah and together we are fighting to make 22q something everyone is familiar with!!!.. Teddy Bohon.. Teddy is a typical, energetic, amazing and mighty three year old.. He loves people, loves being the center of attention, and has the most contagious laugh.. He was diagnosed with 22q Deletion at  ...   concerns and will be tested further prior to her fourth birthday.. She has been cleared by cardiac at this point.. I plan to get further consults in both endocrinology and urology.. Cassie is doing great now.. She is gaining weight and growing taller.. Her main diet consists of mac and cheese and pediasure, but boy does she eat and drink a lot of it! She talks up a storm, acts likes a princess, and loves going to preschool and meeting new friends.. She loves playing outside, hanging with her older brother, and picking on her little sister.. She is very outgoing.. Every day she changes and is growing into a very sweet little girl.. I can't wait to see what new adventures she takes us on as she grows.. Cayden Helvey.. It was a bright, overcast, Summer day in 2011.. Fearless, 33 month old Cayden David Helvey with 22q11.. 2 has overcome 5 surgeries.. He jumped into the downtown Sanford North Carolina train park fountain with clothes and all.. As a mother I watched him lick, drink, cough and jump at the water.. I was worried as I thought in my head, "Oh, please don't get sick during this fun time.. " As his mother I know how easy it is for Cayden to get a sinus infection after swimming in the water.. As Cayden was playing and having the time of his life he was splashing, kicking and running with the kids around the fountain.. Cayden heard a military plane fly over his head.. He is familiar with this noise since his daddy is in the Air Force and often sees the planes on base.. He looked up into the sky squinting his eyes to catch a glimpse of that big plane flying by.. Dripping wet with beads of water he folded his hands together as if he was praying.. Come to find out, Cayden did not get sick after spending time in the town water fountain.. Did he really say a prayer to not get sick or was it an angel he saw flying by? The name Cayden means "Fighter", and that is our son.. We love this picture because it reminds us everyday how truly blessed we are to have him, 22q11.. 2 and all!.. Connor Guillet.. Connor was born August 18, 2010.. He was left at the NICU in Orlando because he was born addicted to opiates and marijuana.. While in the NICU, he was sent for a full genetic screen due to facial features when he cried.. We got a phone call on September 16, 2010 and we were asked if we would be interested in adopting him.. We looked up 22q and read up on it.. He was born with a good heart so without hesitation, we adopted him!.. He has gone through every test possible.. Thankfully he has not shown any physical limitations other than delayed learning and physical growth.. He is currently enrolled in Early Steps and is getting assistance with speech and all develomental skills.. Connor has been a miracle to us since, as we needed him as much as he needed us.. He loves animals and loves spending time with his boxer, Chowda and his two cats, Tobie and Murphy.. He is such a happy boy who has helped complete our lives.. Jacob Kipke.. Jacob is 11 years old now and rides weekly at the Equest Center for Therapeutic Riding.. He’s been gaining confidence and steadily learning new skills – learning to trot, reverse the horse, and guide his mount through complex instructions.. Jacob has ridden several of the horses at the center but especially enjoys riding with Dakota and Grizzly.. He’s a familiar face at the center and always visits the barn cats before finding his horse.. Jacob loves animals and takes care of his own cat, Butterscotch, while the family dog, Sailor, loyally follows him everywhere.. Jacob was diagnosed with 22q11 deletion syndrome through a fortuitous encounter at his mother’s workplace.. Renee – a Registered Nurse – had brought Jacob on an errand to the hospital.. A chance encounter with a Genetics Nurse led to an immediate opinion based on symptoms and facial features which was followed up with blood tests to confirm the diagnosis.. This was after many (MANY) visits to pediatricians and specialists who were unfamiliar with 22q.. 11 syndrome and therefore unable to provide useful direction.. Jerrid Farwell.. At age 2 1/2 years of age I found myself, an educated early childhood professional, wondering if my son was hitting milestones as he should.. Knowing that children take their own time I waited until I felt something was not right.. Jerrid's teeth came in at one year old.. He crawled at 18 months; he only spoke a few words by age two.. Luckily, I was hooked up with an early intervention program in my state and had the best worker.. She spotted things in Jerrid that were out of the norm.. He wasn't speaking and had recurring ear infections, asthma, nasality, little effect, and low muscle tone.. We were referred to CT.. Children's Medical Center; the speech pathologist asked if I knew what Velocardiofacial Syndrome was.. It was that day our lives changed.. Jerrid has had many medical and dental visits.. He had surgery at three for ear-tubes and at 10 for a pharyngeal-plasty and palette-lengthening.. He is affected psychologically, developmentally, and socially.. That hardest part of this syndrome is there are very little physical differences compared to other children.. This makes my job as a mother and advocate three times as hard.. He is a strong and brave boy.. Jolie Lagania.. When your child is born, all you can hope is that they are healthy and feel secure.. Once you put them through blood tests ever few weeks and a spinal tap at just 2 months of age, you start to doubt if you are doing the right thing as a parent.. After multiple remarks of hesitation, I doubted my suspicions of Jolie’s ‘condition’ in the first year of her life.. Even after two years of looking over test results and cognitive/developmental delays, it still became a shock when the Genetics Specialist gave the results of the second chromosomal analysis.. We were told that Jolie had 22q11.. 2 when she was just 2yrs old.. Even though I had an answer to all the questions I had been asking myself about Jolie, I still teared up with the Genetic Specialist as she hugged me.. I felt as if I had been searching for Jolie’s deletion all this time, only to find that I hoped it was just me overanalyzing again.. There are many different ways to describe my beautiful daughter; saying that Jolie has something missing is not one of them.. Working with many doctors and experiencing the trials that Jolie has gone through has made us both stronger and closer as Mother and Daughter.. I thank God for my precious one and we are so proud to be a part of the 22q Family.. Lilly Hindmarch.. Lilly was born 8.. 2008.. We knew before birth that Lilly had 22q11.. 2DS but not the severity.. Lilly is classed as a complete 22q11.. 2DS (no thymus).. Lilly has had 3 heart surgeries (2 open heart), 32 surgeries and medical interventions, and many other procedures.. Lilly spent her first 17 an 1/2 months in hospital and has had many admissions since coming home.. Lilly had her tracheostomy removed (she has had it in since she came off ventilator) in December last year and has just improved so much.. Lilly has pysio, speech and occupational therapy weekly.. She has astounded doctors with her continual battle against the odds and her bright personality.. She may not be able to speak yet but she lets everyone know what she wants.. always with a loving cheeky nature.. Nevaeh Myers.. On May 19th 2008 a beautiful baby girl we named Nevaeh was born.. She was diagnosed with a Ventricular Septal Defect (VSD) at 2 months old.. We proceeded to take Nevaeh to Miami Children's Hospital to see a cardiologist.. Additional testing was performed and it was confirmed that Nevaeh did have a VSD that was very large.. Her aortic arch was going to the right, which is reverse of what a normal aortic arch is, and what caused the vascular ring that she also had.. The cardiologist called her condition “heart failure.. ” After monitoring it was determined that Nevaeh would need corrective open-heart surgery.. On January 6th 2009 Nevaeh had her surgery to correct her heart defect and also remove the vascular ring around her esophagus and trachea.. Her surgery went very well and we were told that Nevaeh was going to have some developmental delays due to her condition.. It was not until we went back to Miami Children's Hospital for her one-year post surgery check up that her cardiologist expressed concerns with the delays in her achieving her milestones.. She proceeded to review the notes of the surgeon who performed the operation and she discovered that the surgeon did mention that he had not seen evidence of a thymus gland.. At this time, her cardiologist ordered a Fluorescence in Situ Hybridization (FISH) test.. The results came back positive for a condition known as 22q11.. 2 deletion syndrome.. Nevaeh is 4 years old now and is still non-verbal but reaching some milestones.. You are not alone! Above are stories you have shared with us.. These stories will help you gain an understanding and shed light on some of the milestones, setbacks, and steps of dealing with the disorder.. Each story is as unique as the person the story is about.. Together the stories help us learn about our community.. Do you have information you'd like to share about a child or adult with a 22q11.. 2? In a few weeks we will have an online submission form for you to share your story on the website and our annual calendar..

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  • Title: Press Room
    Descriptive info: Download Our Press Kit.. Media Backgrounder.. Press Releases.. 2013.. 04.. 29 - 22q Zoo Press Release.. 2012.. 05.. 31 - 22q Meeting Press Release.. 22 - 22q Zoo Press Release..

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  • Title: Contact Us
    Descriptive info: Contact The 22q Foundation.. We'd love to hear from you.. ! Fill out the form below to.. send us your questions or comments, and a representative from the Foundation will be in touch with you as quickly as possible.. Our Mailing Address:.. The International 22q11.. 2 Deletion Syndrome Foundation, Inc.. P.. O.. Box 2269.. Cinnaminson, New Jersey 08077.. USA Telephone:.. 877-739-1849.. Email: info@22q.. org.. Name*.. Email*.. Phone.. Comments*.. Enter the code.. Powered By ChronoForms - ChronoEngine.. com..

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  • Title: Overview
    Descriptive info: An Overview of 22q.. Because of the way our understanding of the 22q11.. 2 deletion evolved, several different names continue to be used for what we now know to be the same condition.. These older terms include DiGeorge syndrome (DGS), velo-cardio-facial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, and Cayler cardiofacial syndrome.. Genetically speaking, there is no detectable difference in the microdeletions found in people with VCFS versus those with DGS or the other related syndromes.. Individuals with these diagnoses all have the same underlying condition:.. the 22q11.. Rather than further dividing our small 22q community, the Foundation aims to bring us all together by educating the public and professionals about the deletion's many names.. Learn about the Foundation's Same Name Campaign.. Further complicating the 22q story, a known deletion involving different genes further down the chromosome is associated with an entirely unrelated and far less common disorder called 22q13 deletion or Phelan-McDermid syndrome.. If you are looking for information about 22q13, please visit the.. Phelan-McDermid Syndrome Foundation.. The Syndrome.. A syndrome is a recognizable pattern of physical and behavioral features.. The 22q11.. 2 deletion syndrome is caused by a missing section (microdeletion) of chromosome 22 which is present from the time a child is conceived.. Present in 1 out of every 2,000-4,000 live births, in 1 in 68 children with congenital heart disease, and in 5 to 8 percent of children born with cleft palate, the 22q11.. 2 deletion is almost as common as Down syndrome, a widely recognized chromosomal disorder.. The deletion has the potential to affect almost every system in the body and can cause a wide range of health problems.. No two people are ever exactly alike, even when they have the same syndrome, and not every person with the deletion is affected in the same way.. Though not always present, the key characteristics of this syndrome include combinations and varying degrees of:.. heart defects.. palate differences.. feeding and gastrointestinal difficulties.. immune system deficits.. growth delay.. kidney problems.. hearing loss.. low calcium and other endocrine issues.. cognitive, developmental and speech delays.. behavioral, emotional, and psychiatric differences (ADHD, autism, anxiety, etc.. ).. Inheritance.. 2 deletion is most often a "de novo" event, meaning that it is not inherited from either parent and does not usually run in a family.. Only about 10% of children with the 22q11.. 2 deletion have a parent who is also affected.. In the majority of individuals, the deletion happens sporadically without a previous family history of the condition.. There is nothing the parents did or failed to do that caused the deletion to occur.. For parents who do not have the deletion, the chance that a future child might be affected is very low.. For individuals with the 22q11.. 2 deletion, there is a 50% chance of passing on the deletion to a child with each pregnancy.. Individuals within the same family who have the deletion may or may not be similarly affected.. For example, a mother could have very mild manifestations of the 22q11.. 2 deletion, while her child may have a severe heart defect needing surgery immediately after birth.. Treatment.. Although there is no cure for the 22q11.. 2 deletion, many therapies and medical interventions are available to help address its associated symptoms.. The earlier these symptoms are detected, the more doctors can do to help.. That’s why, when diagnosed with this condition, evaluation is recommended in the following areas:.. Audiology.. Cardiology.. Child development and psychology.. Cleft palate.. Ear, nose and throat.. Endocrinology.. Feeding / nutrition.. Genetics.. Immunology.. Neurology.. Orthopedics.. Urology.. Even if a child doesn't have a known heart defect, a cardiologist's evaluation is important, although the likelihood of finding a previously unrecognized problem is low.. An evaluation usually includes a chest X-ray, an electrocardiogram, and an echocardiogram.. Children with a 22q11.. 2 deletion may have learning style differences requiring some extra help in school.. In addition, young children may have delays in their developmental milestones and might benefit from early intervention, such as physical, occupational, and speech therapy.. That's why it's important to have developmental testing on a regular basis.. If your child is noted to be behind in any areas, appropriate interventions will be recommended.. Children with  ...   areas, he or she should be referred to a specialist.. Coping with the Diagnosis.. Most children and adults with the 22q11.. 2 deletion do quite well both medically and as members of their families and communities at large.. As with anything that is unexpected, coming to terms with the diagnosis is often difficult at first but becomes easier as more information becomes available.. Families can benefit from the opportunity to meet other children and adults with the 22q11.. 2 deletion and/or to converse with them through diagnosis-specific internet sites.. In addition, attendance at family meetings and picnics; contacting support networks; and sending children to camps specifically designed for those individuals with a 22q11.. 2 deletion is often helpful, as families realize they are not alone.. Learn more about coping with the diagnosis.. Need more answers? Visit our page of Frequently Asked Questions.. 2 Duplication Syndrome.. 2 Duplication is about half as common as the 22q11.. 2 deletion (so found in about 1/4000 newborns).. But because there are likely so many individuals who remain undiagnosed, it is hard for doctors to estimate the prevalence of this syndrome.. The duplication has the potential to affect many systems in the body and can cause a wide range of health problems.. No two people are ever exactly alike, even when they have the same syndrome, and not every person with the duplication is affected in the same way.. Many people with the duplication have no apparent physical or intellectual disabilities.. Often times, parents of children with the duplication find out that they also have it only after their child is diagnosed.. feeding and gastrointestinal difficulties including reflux.. immune system deficits including neutropenia.. growth delays and short stature.. weak muscle tone or hypotonia.. occasional endocrine issues including low calcium and thyroid differences.. Frequent upper respiratory infections, asthma.. behavioral and learning differences including ADHD, autism, Asperger syndrome, etc.. seizure disorders.. macrocephaly , or large head.. 2 Duplication is caused by an extra piece of genetic material on the 22.. nd.. chromosome.. In most cases, the extra genetic material contains about 40 genes.. Diagnosis.. 22q11.. 2 Duplication Syndrome is not detectable by routine genetic testing (called karyotyping.. ) Most individuals with 22q11.. 2 duplication are identified either by something called array genomic hybridization (array GH) testing or by multiplex ligation-dependent.. probe.. amplification (MLPA) testing for.. Both of these tests are performed with blood work but can be diagnosed in pregnancy using cells from the placenta or the amniotic fluid.. About 70 percent of individuals with the duplication inherit it from one of their parents.. In other cases, the duplication is not inherited and occurs as a random event during the formation of the child.. Any person with the duplication has a 50% chance of having a child with the same duplication.. 2 duplication, many therapies and medical interventions are available to help address its associated symptoms.. Neurology, Urology and Endocrinology if recommended.. 2 duplication may have learning style differences requiring some extra help in school.. Children with the duplication should see a plastic surgeon who specializes in cleft palate and velopharyngeal incompetence.. 2 duplication may also have hearing loss, your child would benefit from a hearing test (audiogram), as well.. Occasionally, children with a chromosome 22q11.. 2 duplication have problems with low calcium when they're newborns and may need a calcium supplement.. 2 duplication often have feeding difficulties, especially when they're newborns.. 2 duplication.. It's important for a child with the duplication to have a yearly evaluation, so the geneticist can answer questions about his or her general care, as well as the chances that the disorder will recur in future generations of a family.. Some newborns with a 22q11.. 2 duplication have problems with their immune systems, so they may have trouble with infections or certain vaccines.. A child with the duplication should be evaluated by an immunologist at least once.. 2 duplication have a seizure disorder (unrelated to low calcium) or balance problems which require a neurologist's services.. 2 duplication do quite well both medically and as members of their families and communities at large.. 2 duplication and/or to converse with them through diagnosis-specific internet sites.. 2 syndromes is often helpful, as families realize they are not alone..

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  • Title: Newly Diagnosed
    Descriptive info: Living With 22q | Newly Diagnosed.. Medical Resources | Newly Diagnosed.. What are the medical needs of children with the 22q11.. 2 deletion?.. Educational Resources | Newly Diagnosed.. We are working to make the 22q.. org website the destination for information on various topics.. New Information is being posted on a regular basis.. Please bookmark this website and check back for the most up to date information as it becomes available.. An Introduction for Parents of Newly Diagnosed Children.. Psychosocial Resources | Newly Diagnosed.. Resources For Educators | Newly Diagnosed.. 2 deletion? Once the diagnosis of a 22q11.. 2 deletion has been made, what should happen next? Since children with a 22q11.. 2 deletion may have problems in many different body systems, for example, heart, palate, and learning style, it makes sense that they should have a comprehensive evaluation of all areas which could be affected.. At The Children’s Hospital of Philadelphia, we recommend that all patients with a 22q11.. 2 deletion have the following evaluations, at least once, to rule out any potential problem.. (This list is continuously changing as new findings are recognized amongst patients and is, therefore, not all inclusive.. Also note that same problems, such as speech delay, for example, are not obvious at birth and can only be identified over time): Cardiology - If the child does not have a known cardiac defect, an evaluation with a cardiologist is important, although the likelihood of finding a previously unrecognized problem is low.. An evaluation may include a chest x-ray, electrocardiogram (study of the electrical impulses of the heart), and an echocardiogram (ultrasound of the heart).. Child Development and Psychology - Children with a 22q11.. 2 deletion may have a difference in learning style requiring some extra help in school.. Therefore, it is important for patients with the deletion to have developmental testing on a regular basis is determine if there is a problem, and to identify appropriate intervention when needed.. Cleft palate team - All children with the 22q11.. 2 deletion should be seen by a plastic surgeon who specializes in cleft palate and VPI (velopharyngeal incompetence).. In addition, they should be seen by a speech and language pathologist who can also assess speech, language, and feeding (in a young child).. Some teams also have growth specialists and dentists who monitor the growth of the  ...   a problem already existed.. Genetics - The geneticist is the most likely person to have an overview of the diagnosis.. These would include keeping up to date with the new findings associated with the 22q11.. Therefore, a yearly evaluation with genetics is often beneficial in answering questions regarding the patient’s general care, recurrence risk, and the availability of prenatal diagnosis.. Immunology - Many newborns with the 22q11.. 2 deletion have problems with their immune systems and, therefore, may have trouble with infections or trouble handling certain vaccines.. Most children outgrow this problem by their first birthday, but some patients continue to have some trouble into later childhood and adulthood.. We suggest that every patient by evaluated by the immunologist at least once.. Neurologist - Rarely, children with a 22q11.. 2 deletion have symptoms such a seizure disorder or problems with balance which require the services of a neurologist.. We suggest that an initial evaluation with a neurologist may be helpful in some cases.. Urology - Some patients with the 22q11.. 2 deletion have problems with their kidneys, including a missing kidney, which would be detected by a renal ultrasound.. In addition, some children have difficulty with urinary tract infections, bedwetting or urinary frequency, and would benefit from seeing a urologist who is a specialist in this area.. Other - Some patients with a 22q11.. 2 deletion commonly have: constipation, leg pain, and differences in the carotid arteries (blood vessels in the neck which lead to the brain).. Other patients with the 22q11.. 2 deletion have problems which are seen fairly infrequently, these include: bony abnormalities such as extra fingers, extra ribs, a missing bone of the forearm, and problems of the vertebrae (spine) which sometimes leads to scoliosis (curvature of the spine); spina bifida, juvenile rheumatoid arthritis, eye problems, premature fusion of the “soft spots” or fontanels (craniosynostosis), and emotional or psychological problems.. Patients who have a problem in one of these areas are referred to the doctors who care for that particular problem.. 22q and You “Dedicated to Teaching, Learning, and Caring for patients with a 22q11.. 2 deletion” Clinical Genetics Center - The Children’s Hospital of Philadelphia Wood Bldg Room 1080 - One Children’s Center - 34th St Civic Center Blvd - Phila, PA 19104 Phone (215) 590-2920 - Fax (215) 590-3298 - Email: mcginn@email.. chop.. edu..

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  • Title: Frequenly Asked Questions
    Descriptive info: 22q Frequenly Asked Questions.. Ask a new question.. Type your question.. General Questions.. Healthcare Guidelines.. How common is the deletion?.. 2 deletion occurs in approximately 1 in every 2,000 to 4,000 live births, although this is likely a gross underestimate of its prevalence.. It is thought to be almost as common as Down syndrome.. In addition, it is the most frequent cause of syndromic palatal defects, and it is found in 1 of 68 children born with a heart defect.. Despite this prevalence, many physicians are still not familiar with the diagnosis or its extreme variability.. Because of this, a family may search for years for an explanation for a child’s problems, as well as for meaningful help.. Sometimes patients are in their late teens or even adulthood when the diagnosis is made, and many people never get properly diagnosed at all.. Was this helpful?.. 159.. 121.. Thank you for the feedback.. How common is the duplication?.. It is not yet known how common 22q11.. 2 Duplication is.. Because there are likely so many individuals who remain undiagnosed, it is hard for doctors to estimate the prevalence of this syndrome.. Best estimates fall in the range of 1/700 live births.. 128.. 123.. My child has VCFS.. How is this related to the 22q11.. There is a lot of confusion about various diagnoses given to children affected by the deletion.. Other names that have been used for the 22q11.. 2 deletion include DiGeorge syndrome, velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome, Opitz G/BBB syndrome, and Cayler cardiofacial syndrome.. These are all older names given to a collection of findings by different sub-specialists before anyone knew about the true cause of the various findings – the chromosome 22q11.. For example, Angelo DiGeorge, MD, an endocrinologist, focused on problems with calcium; Robert Shprintzen, PhD, a speech pathologist, concentrated on palatal differences; and Dr.. Kinouchi and others in Japan looked at heart defects.. In 1997, Donna McDonald-McGinn, MS, CGC likened this phenomenon to a group of near-sighted veterinarians trying to describe an elephant by each examining a separate part.. Each was accurate in describing his or her own area of interest but none was able to see the big picture; so too was the case of the 22q11.. 2 deletion prior to the availability of a laboratory test for this chromosomal deletion.. We now know that children with velocardiofacial, DiGeorge, conoctruncal anomaly face, Opitz G/BBB, and Cayler cardiofacial syndromes all have the same condition: the 22q11.. Learn about the Foundation's.. Same Name Campaign.. 120.. What tests are used to diagnose the deletion?.. Today there are many genetic blood tests that can identify the 22q11.. They include: FISH (fluorescence.. in situ.. hybridization), comparative genomic hybridization (CGH), whole genome or SNP array, and multiplex ligation-probe amplification (MLPA).. A routine chromosome study can only identify this very small deletion about 25% of the time, so one of the more specialized tests above needs to be requested in order to detect it.. 138.. What tests are used to diagnose the duplication?.. 126.. 118.. Is the deletion hereditary?.. Most times, the deletion is not hereditary or “running in the family,” and parents without the deletion are not at increased risk of having a second affected child.. However, a person with the deletion has a 50% chance of passing it on to his or her child with every pregnancy.. In addition, as the findings in people with the 22q11.. 2 deletion are so variable, it is impossible to predict how mildly or significantly affected a child will be.. It is important for parents to keep in mind that nothing they did or failed to do could have caused the deletion to occur.. It is common for parents to initially feel a sense of guilt over the fact that their child has a "genetic condition,” but it is clear that this was out of their control and not anyone’s fault.. 145.. Is the duplication hereditary?.. 132.. 125.. What are the medical needs of those with the deletion?.. Unlike early reports of children with DiGeorge syndrome, many of whom died in early infancy prior to the availability of sophisticated cardiac surgeries and antibiotics to fight infections, the mortality rate in children with the 22q11.. 2 deletion is very low (~ 4%).. Those children who do succumb to problems associated with the deletion often pass away at a very young age (~ 4 months).. However, many children and adults  ...   require more complex care from an Otolaryngologist.. · Gastrointestinal and feeding difficulties: Around 35% of children have significant feeding and swallowing problems such as gastroesophageal reflux (GERD) and dysmotility leading to reflux and constipation; less common problems include umbilical hernia, intestinal malrotation, an absent anal opening, Hirshsprung’s disease (where the child has severe constipation/blockage of the bowel), a diaphragmatic hernia where loops of bowel can be in the chest.. Most common feeding problems exist in the newborn period and often resolve with medical assistance by school age.. · Blood disorders: Rarely, a child has had problems with bleeding due to the deletion of a gene that codes for clotting on the chromosome with the deletion and a non-working gene on the other chromosome 22 called Bernard-Soullier syndrome and occasionally children have had problems with their blood counts due to an autoimmune problem such Idiopathic Thrombocytopenia and Autoimmune Neutropenia; some children have rarely had a tumor, most notably in the liver (hepatoblastoma) and sometimes elsewhere such as the kidney (Wilm’s tumor, Renal Cell carcinoma) or thyroid; as well as an occasional individual with Leukemia or Lymphoma.. With the exception of Bernard-Soullier syndrome, these problems are likely related to the individuals’ “pokey” immune system as well as other genes on other chromosomes that may predispose them to having these problems.. · Immunological and rheumatological issues: 77% of children have immunodeficiency regardless of whether or not they appear to have recurrent infections including things like recurrent infections, not mounting a normal response to vaccines, and not being able to receive live viral vaccines.. Most problems resolve in infancy but some older children and adults have chronic infections.. In addition, children and adults are more prone to autoimmune diseases such as Juvenile Rheumatoid arthritis, Idiopathic Thrombocytopenia, Autoimmune Neutropenia, Grave’s disease, and Vitiligo.. · Neurological findings: Rarely, children have seizures unrelated to their low calcium levels and/or structural brain differences/a small head.. An occasional child will have spina bifida.. · Eye differences: Some children have eye problems such as droopy eyelids (known as ptosis); differences in the whites of their eyes (scleracornea); differences in the colored parts of their eyes (coloboma); and differences with their eye muscles.. Some of these problems need surgical treatment or other interventions such as patching of the eyes and others do not.. · Bone troubles: Approximately half of children have differences in the way the vertebrae of the spine are formed at the neck causing decreased room surrounding the spinal cord at the neck in a very small subset of children which often benefit from surgical correction; differences in the bones of the spine in other areas such as the chest (butterfly vertebrae); curvature of the spine (scoliosis); extra ribs, extra fingers and toes; differences in “wing bones (scapula); and occasionally premature fusion of the bones of the skull (craniosynostosis) all of which are able to be helped surgically if needed.. Many children also have unexplained leg pain.. · Genito-urinary issues: Around 35% of children have differences in the way their kidneys are formed or how they work such as a single or malformed kidney and/or kidney reflux, as well as, problems with infections, potty training, and differences in the way the genito-urinary system may be formed (hypospadias in boys where the opening of the penis is not at the tip and undescended testes and occasionally an absent uterus in girls); and hernias in the groin.. 191.. How should individuals with the 22q11.. 2 deletion be followed medically?.. Ideally, children with the 22q11.. 2 deletion should receive coordinated care from centers that offer multidisciplinary teams of clinicians, often drawn from more than 20 specialties.. Centers address each child’s individual health problems, as well as issues such as speech or learning delays, in order to help these children and their families lead the best life possible.. See our bibliography of medical and professional articles on the 22q11.. Upon initial diagnosis, the standard assessment and work-up for all ages generally includes:.. Endocrinology.. Speech/Language/Developmental Assessments.. A Renal Ultrasound (to check the kidneys).. X-rays of the neck (in children old enough to cooperate and where the bones are well ossified – so ~ 3 to 4 years of age)·.. Deletion studies in both parents when available.. Thereafter, the work-up is individualized, depending on the symptoms, but may include any or all of the following:.. Plastic Surgery/ENT/Audiology.. Gastroenterology/Feeding Team.. Hematology.. Urology/Nephrology.. Orthopedics.. Ophthalmology.. General Surgery.. Dentistry.. Rheumatology.. Neurology/Neurosurgery.. Psychiatry.. 164.. 130..

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  • Title: Mission
    Descriptive info: Our Mission.. Improving the quality of life for individuals affected by the 22q11.. 2 syndromes through family and professional partnerships..

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  • Title: Board of Directors
    Descriptive info: Board of Directors.. Sheila Kambin, MD.. Chairperson, Parent.. Broomall, PA.. Marc Weinberg, Esq.. *.. Vice Chairperson, Parent.. Holland, PA.. Suzanne DiCamillo.. Treasurer.. Moorestown, NJ.. Anne Bassett, MD.. Medical Director, Psychiatrist.. University of Toronto.. Toronto, Canada.. Colleen Ciak.. Secretary, Parent.. Delran, NJ.. Missy Disibio*.. Parent.. Cherry Hill, NJ.. Melissa Maisenbacher, MS, CGC.. Genetic Counselor.. Gainesville,  ...   The "22q and You" Center.. The Children's Hospital of Philadelphia.. Philadelphia, PA.. Christine Moriconi, Psy.. D.. , RNC, LMFT.. Huntington Valley, PA.. Edward M Moss, PhD.. Pediatric Neuropsychologist.. Bryn Mawr, PA.. Paula Uccello.. Colchester, CT.. Part-Time Assistant.. : Swati Patel.. Advisor:.. Marilyn Cohen, BS.. Speech Therapist.. Cooper Hospital.. Camden, NJ.. * Founding Board Members..

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