NewBorn Screening Campaign:
Newborn Screening Campaign in January 2012, groups from throughout the United States, Canada, and the United Kingdom had the opportunity to present before the US Secretary of Health’s Committee on Heritable Disorders and Newborn Screening to rally support for newborn screening for 22q11.2. These representatives came from The Children’s Hospital of Philadelphia, The University of Toronto, The International 22q Foundation, Max Appeal, Children’s Hospital of Wisconsin, and The Dempster Family Foundation (now called the 22q Family Foundation). In an interesting turn of events, the Committee had already predetermined that the application to add 22q11.2 screening to the current federally mandated list of newborn screening studies be denied, prior to any public comments or proponent group presentation, based on a lack of pilot study evidence to support the proposal. However, following an extremely convincing and eye opening presentation by the Newborn Screening Proponents, the Committee agreed to re-hear the proposal once pilot data was obtained and submitted into evidence. To this end, the collaborating parent organizations (The International 22q Foundation, Max Appeal, and the Dempster Family Foundation – with hopes that other such organizations will join in the very near future) agreed to begin a rapid and restricted fund raising campaign to allocate the necessary funds for such an endeavor.
From left to right: Michelle Breedlove Sells, Jack Routes , MD (Children’s Hospital of Wisconsin) Carol Cavana (International 22q 11.2 Foundation), Donna McDonald-Mcginn , MS, CGC (Children’s Hospital of Philadelphia) Anne Basset , MD (University of Toronto) Julie Wootton (Max Appeal) Sheila Kambin (The International 22q11.2 Foundation,) Aoy Mitchell , PhD (Children’s Hospital of Wisconsin) – Missing is Stu Berger , MD from Children’s Hospital of Wisconsin
In April, 2013, Julie and Paul Wootton from Max Appeal arranged a meeting at the British House of Commons for Parliament Members and invited speakers, including our very own Founding Board Member Donna McDonald-McGinn, MS, LCGC. It was an impressive and inspiring event hosted by Max Appeal and Donna presented a compelling argument for newborn screening and was actually quoted in the British newspapers. Following some key sidebar discussions by our Medical Advisory Chair, Anne Bassett, MD and a Member of Parliament in attendance, we supported Max Appeal as they gained serious consideration for setting up a Parliamentary Committee to investigate and further support 22q11.2. As a result Max Appeal has permanent meeting space in the House of Commons. We are all hopeful that the topic will be brought to the Floor of the House of Commons for a full public discussion where all proceedings were streamed live on the BBC.
Since 2013, great things have happened, as Missouri has passed legislation for newborn screening for 22q11.2DS but a clinical lab has not yet been identified to perform such studies. However, research studies are ongoing at (1) Newborn Screening Ontario at the Children’s Hospital of Eastern Ontario in Ottawa, Canada and (2) the Children’s Hospital of Philadelphia. The Foundation continues to advocate for screening in the newborn period.
In order to bring this effort to fruition, please consider making a donation to any of the respective funds as soon as possible. We need your support – please don’t let us down!
Click here to view our infographic designed for our advocacy campaign.