Check back often for more information about what’s happening with the International 22q Foundation!
22q in the News: Dr. Kecia Gaither advocates for expanded access to early detection of 22q11.2 deletion syndrome for all pregnancies.
Dr. Kecia Gaither, the Director of Perinatal Services and Maternal Fetal Medicine at NYC Health + Hospitals/Lincoln in the Bronx, NY, authored an opinion piece in RealClearHealth to explain how limited access to prenatal screenings contributes to maternal health inequities in Black and Hispanic communities. Dr. Gaither calls on ACOG to update their guidelines to formally recommend increased access to prenatal screenings for common conditions like 22q11.2 deletion syndrome in order to produce better health outcomes for families.
Read the full piece here.
A new grassroots petition urges ACOG to recommend 22q11.2 deletion syndrome screening for all pregnancies.
The International 22q11.2 Foundation is elevating the voices of patients and families by organizing a grassroots signature petition that urges health care leaders to expand access to 22q11.2 deletion syndrome screenings. These screenings, which are approved for all 22q11.2 deletions and, in some cases, suspected duplications, allow families the chance to deliver their baby in a center with high level neonatal care best equipped to offer comprehensive evaluations and appropriate interventions prior to birth hospital discharge.
Sign the petition here.
Scholarship Opportunity
The ACPA Randall/LaRossa College Scholarships
The Randall/LaRossa College Scholarship Fund was established in 2009 to honor Peter Randall, MD and Don LaRossa, MD from the Children’s Hospital of Philadelphia (CHOP). Both of them were pioneers in surgery for palatal abnormalities in children with 22q11.2 deletion syndrome.
The American Cleft Palate-Craniofacial Association awards three college scholarships annually to outstanding students born with cleft or craniofacial conditions. Please visit the scholarship website for more information and to submit an application. The deadline to apply is February 4th, 2022.
Profs. Bruno Marino and Nicole Philip-Sarles honored with 2020 DiGeorge Medal
22q11.2 Society (22qsociety.org) announce Professors Bruno Marino and Nicole Philip-Sarles as joint recipients of the 2020 Angelo DiGeorge Memorial Medal of Honor.
Read full article here.
Empowering young women with the 22q11.2 Deletion Syndrome to share their lived experience and mental health support needs.
This research project aimed to address mental health support needs by offering a vehicle through which young people could communicate their lived experiences and service recommendations to parents, educators, researchers, service providers and policy makers. It also aimed to support the development of mental health resilience by providing space for young adults to share their stories of mental health challenges and recovery. Resilience was defined as ‘the ability to bounce back after times when you felt upset by your emotions, thoughts or relationships’.
Read more here.
22q at the Abilene Zoo
Thank you KTAB Abilene,Texas (Big Country) for shining the light on 22q at the Zoo!
Watch video here.
22q in the news!
Meet 6 year old Robert Romero from Minnesota. His dream to be a police officer when he grows up. He has collected hundreds of patches from police agencies across the country.
Read more here.
Shai Ben Yaacov
Living Musically with 22q
Thank you to Shai Ben-Yaacov, WHYY Producer and 22q Dad for shining the spotlight on our 22q friend and amazing young musical talent Todd Simpson!
Read more here.
Meet Conner — a young boy with 22q
Meet Conner — a young boy with 22q, found a best friend in a dog named Ellie, who also has her own special needs. Together they embody what unconditional love is all about.
Read more here.
Shai Ben Yaacov, a 22q dad and producer
Shai Ben-Yaacov, a 22q dad and producer of the nightly public radio show NewsWorks Tonight in Philadelphia, was on the air talking about learning of his son’s heart condition and subsequent 22q diagnosis. His son has Tetralogy of Fallot, the same condition Jimmy Kimmel just made famous in a widely shared clip about his newborn son.
“22q at the Zoo” raises awareness of genetic condition
Jennifer Leslie, WXIA article raising awareness for 22q in Atlanta, Ga.
Selfies, yes selfies, could help diagnose rare genetic disease
Researchers with the National Institutes of Health’s National Human Genome Research Institute (NHGRI) successfully used facial recognition software similar to that found in airports and on Facebook to diagnose a rare genetic disease called 22q11.2 deletion syndrome using photos alone.
Read more here.
Genetic Drivers of Kidney Defects in the 22q11.2 Deletion Syndrome
Lead researcher and nephrologist, Simone Sanna-Cherchi, MD from Columbia University, in collaboration with mouse geneticist, Bernice Morrow, PhD, from the Albert Einstein College of Medicine, and Director of the 22q and You Center, Donna McDonald-McGinn, MS, LCGC, from the Children’s Hospital of Philadelphia, among others, recently reported an important link between three genes within the 22q11.2
Read more here.
Mom donates 4,600 ounces of breast milk after her infant son’s death
When Riverdale, Utah, mom Nicura Thompson gave birth to her fourth son, Colton, on October 21, she knew he wouldn’t live a long life. She found out before he was born that he had DiGeorge syndrome — a chromosomal condition that can cause heart defects and problems with the immune system — and he wasn’t expected to live past his teens.
Read more here.
New Website to help families navigate the Achieving a Better Life Experience (ABLE) Act, USA
The website includes information about the law, ABLE accounts, who qualifies and the particulars of each state’s legislation.
The Achieving a Better Life Experience (ABLE) Act, a federal law signed in December of 2014, will give many individuals with disabilities and their families the opportunity to save for the future and fund essential expenses like medical and dental care, education, community- based supports, employment training, assistive technology, housing and transportation. The law allows eligible individuals with disabilities the ability to create “ABLE accounts” which resemble the qualified tuition programs, often called “529 accounts,” that have been established under that section of the tax code since 1996. By saving for and funding critical daily expenses, these ABLE accounts will give US citizens with disabilities increased choice, independence, and opportunities to participate more fully within their communities.
Learn more here.
Girl Scout Gold Award About 22q
Special Education Girl Scout creates a PSA about 22q Deletion Syndrome. She hopes to expand awareness about 22q and help families, educators and clinicians.
22q11.2 Deletion Syndrome Featured in Leading Scientific Journal
An extensive review of the 22q11.2 Deletion Syndrome was published on November 19, 2015 in Nature. Nature is a British interdisciplinary scientific journal which is highly regarded among leading researchers and has been ranked the world’s most cited scientific journal. This journal claims an online readership of about 3 million readers per month.
This is exciting because it brings focus and education about 22q11.2DS to the scientific community. In addition, the article supports many of International 22q11.2 Foundation’s initiatives such as “The Same Name Campaign”, early diagnosis, including newborn screening, and the importance of early intervention strategies.
Read more here.
New finding regarding potential treatment of ADHD and anxiety and implications for 22q
The Children’s Hospital of Philadelphia, USA in conjunction with Medgenics has announced preliminary data regarding the treatment of ADHD and anxiety using precision medicine. The implications are far-reaching, especially for families affected by neoropsychiatric disorders and 22q11.2 syndromes.
Read more here.
Prevalence of 22q11.2 Deletion and Duplication syndromes
A new study, recently published in Prenatal Diagnosis, and based on over 9500 prenatal testing samples, suggests a dramatic increase in our understanding of the prevalence of both the 22q11.2 deletion and duplication syndromes. A prevalence of more than one in one-thousand indicates that approximately 5 million or more individuals worldwide are impacted including more than 300,000 in the U.S.
Press Releases
News Articles
May 2016: 22q at the Zoo Awareness – Alyssa Tholstrom holds her son Landon Tholstrom, 2, on her lap during 22q at the Zoo at Zoo Montana. Read full article here.
May 2016: 22q at the Zoo Awareness – Jody Jones gives an interview regarding her son Caleb Jones and raising awareness for 22q. Read full article here.
November 2015: An 11 minute interview on Raising Awareness by Rebecca Osberg with Sheila Kambin, MD, Parent and Chair of The International 22q11.2 Foundation, Inc. http://www.raredisorders.info/Ro_-_Sheila_Interview__1_.MP3
September 2013: Parents say genetic syndrome 22Q lacks awareness
April 2012: 22q at the Zoo Awareness in Cincinnati – Bettsy Leech, Genetic Counselor at The 22q/VCFS center at Cincinnati Children’s gives an interview with a parent named robin regarding 22q and our worldwide 22q at the zoo day.
May 2011: 22q at the Zoo Awareness – Former Chair of the Foundation, Carol Cavana gives an interview regarding 22q at the zoo and her son Louis.