Petition Closed

Children born with 22q Deletion syndrome often go undiagnosed for years while struggling to stay healthy... 22qDS is second to Down Syndrome but often missed by clinicians because of the wide disparity of mild to SEVERE symptoms. Here are a few ways this simple addition to the newborn screen would help.

A Message From: Texas Rangers Pitcher, Ryan Dempster and The Dempster Family Foundation. Ryan's daughter was diagnosed with 22q in 2009. We would like for all children to have the benefits of being diagnosed early

* Inform parents that their child is at risk for over 180 mild to severe issues so they have a fighting chance to manage treatments based on 22q DS protocols (published in just this year in the Journal of Pediatrics)

* 22q is second to Down Syndrome but far more difficult for doctors to recognize. (Thus many sick children go undiagnosed for years)

*Drastically decrease unnecessary health care costs associated with 22q Deletion syndrome's avoidable medical emergencies.

*Allow parents and physicians to manage patient care proactively by at the very least getting a proper diagnosis before unexplained and sometime critical issues arise.

    A year ago, we received an email from Dr. Jack Routes, a clinical immunologist/physician scientist at the Medical College of Wisconsin. He described one major focus of his research was to develop and then implement an inexpensive, sensitive and specific test that would identify newborn infants with 22q.11.2. He went on to describe that he, along with Dr.Aoy Mitchell had indeed developed such a test and that the next step would be nominating this inexpensive option to the Secretary’s Advisory Committee on Heritable Disorder in Newborns and Children.

This syndrome is associated with approximately 180 different diagnostic findings that range from mild to life-threatening.
This wide disparity between diagnosis, degree of affect and related multi-specialty physician interaction, often leads to delayed or missed diagnosis. Some of the most prevalent health concerns are also the most challenging for the affected child, their families, healthcare providers and education professionals. Conditions such as; heart defects, cranial-facial differences, breathing difficulties leading to frequent tracheotomies, gastrointestinal issues leading to feeding tube placement, immune deficiencies, hearing loss, low calcium and other endocrine issues.
Learning disabilities are often recognized later in the child’s development pathway with ADD/ADHD/Autism/Social Awkwardness/Anxiety. There is also a potential for additional psychological effects. Conversely, this diagnosis can also be associated with a unique awareness or a heightened ability to excel in areas such as; art, music, literature, engineering or many other sensory-related fields.

The Dempster Family Foundation has identified 22qDS education and awareness as a key foundation initiative during 2012. The DFF is positioned to assist the global 22qDS community with educational support, parent empowerment programs, awareness campaigns, research grants and physician education that ultimately lead to earlier diagnosis and treatment. 

The Dempster Family Foundation

Director of Development,  Michelle Breedlove Sells
Email: mbreedlovesells@dempsterfamilyfoundation.org www.DempsterFamily Foundation.org


A Message From: The International 22q11.2 Foundation

Why do we care about newborn screening? Because newborn screening will prevent late diagnosis.

Why should we want to prevent late diagnosis? Because when children are missed important problems such as heart defects and low calcium may be overlooked which can lead to other medical issues such as seizures, problems with learning and development, or even death. Children will be offered early interventions and therapies which will substantially improve their outcomes. In addition, parents can be spared the emotional roller coaster of seeking medical and educational answers to seemingly unanswerable questions.

With newborn screening, the lay public, educators and clinicians will finally learn how common this syndrome is. The press will finally begin to talk about it. The awareness battle will be won. This will drive funding for research that will improve understanding of this complex condition. Improving understanding drives further research that will improve outcomes for our children. A brighter future for our children and grandchildren will be ensured.

Where do we currently stand on newborn screening for 22q11.2?

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 Ryan and Jenny Dempster 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) have agreed to begin a rapid and restricted fund raising campaign to allocate the necessary funds for such an endeavor.

What you can do to help?

If you have not already done so, please consider making a donation to any of the respective funds as soon as possible. And please sign the attached petition as well as post on Facebook and forward to your entire address book. Gaining support in number with this petition may very well help to generate the interest and monetary support needed from potential donors to really make this happen.


We need your support - please don't let us down!

 The International 22q11.2 Foundation, Sincerely,Sheila P. Kambin, Executive Secretary to the Board, 
  

The Dempster Family Foundation has identified 22qDS education and awareness as a key foundation initiative during 2012. The DFF is positioned to assist the global 22qDS community with educational support, parent empowerment programs, awareness campaigns, research grants and physician education that ultimately lead to earlier diagnosis and treatment.

The Dempster Family Foundation

Director of Development, Michelle Breedlove Sells
Email: mbreedlovesells@dempsterfamilyfoundation.org www.DempsterFamily Foundation.org
 

 

 
 

 

 

Letter to
US Secretary’s Advisory Committee on Heritable Disorders in Newborns US Secretary’s Advisory Committee on Heritable Disorders in Newborns
I just signed the following petition addressed to: US Secretary’s Advisory Committee on Heritable Disorders in Newborns.

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Add $6 Test that can save infant lives to the US Newborn Screen

Please put all possible measures in place to save the lives of children born with 22q Deletion syndrome, who often go undiagnosed for years while struggling to stay healthy... 22qDS is second to Down Syndrome but often missed by clinicians because of the wide disparity of mild to SEVERE symptoms. Here are a few ways this simple addition to the newborn screen would help.

* Inform parents that their child is at risk for over 180 mild to severe issues so they have a fighting chance to manage treatments based on 22q DS protocols (published in just this year in the Journal of Pediatrics)

* 22q is second to Down Syndrome but far more difficult for doctors to recognize. (Thus many sick children go undiagnosed for years)

*Drastically decrease unnecessary health care costs associated with 22q Deletion syndrome's avoidable medical emergencies.

*Allow parents and physicians to manage patient care proactively by at the very least getting a proper diagnosis before unexplained and sometime critical issues arise.


From: Texas Rangers Pitcher, Ryan Dempster and The Dempster Family Foundation.
A year ago, we received an email from Dr. Jack Routes, a clinical immunologist/physician scientist at the Medical College of Wisconsin. He described one major focus of his research was to develop and then implement an inexpensive, sensitive and specific test that would identify newborn infants with 22q.11.2. He went on to describe that he, along with Dr.Aoy Mitchell had indeed developed such a test and that the next step would be nominating this inexpensive option to the Secretary’s Advisory Committee on Heritable Disorder in Newborns and Children.

This syndrome is associated with approximately 180 different diagnostic findings that range from mild to life-threatening.
This wide disparity between diagnosis, degree of affect and related multi-specialty physician interaction, often leads to delayed or missed diagnosis. Some of the most prevalent health concerns are also the most challenging for the affected child, their families, healthcare providers and education professionals. Conditions such as; heart defects, cranial-facial differences, breathing difficulties leading to frequent tracheotomies, gastrointestinal issues leading to feeding tube placement, immune deficiencies, hearing loss, low calcium and other endocrine issues.
Learning disabilities are often recognized later in the child’s development pathway with ADD/ADHD/Autism/Social Awkwardness/Anxiety. There is also a potential for additional psychological effects. Conversely, this diagnosis can also be associated with a unique awareness or a heightened ability to excel in areas such as; art, music, literature, engineering or many other sensory-related fields.

The Dempster Family Foundation has identified 22qDS education and awareness as a key foundation initiative during 2012. The DFF is positioned to assist the global 22qDS community with educational support, parent empowerment programs, awareness campaigns, research grants and physician education that ultimately lead to earlier diagnosis and treatment.

For more information contact:
Michelle Breedlove Sells
The Dempster Family Foundation
Email: mbreedlovesells@dempsterfamilyfoundation.org
www.DempsterFamilyFoundation.org