Dear members of the US Secretary’s Advisory Committee on Heritable Disorders in Newborns: We call upon you to add 22q Deletion Syndrome to the U.S. Newborn Screen: Please put all possible measures in place to save the lives of children born with 22q Deletion syndrome, who often go undignosed for years while struggling to stay healthy.
* 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.
*Drastically decrease unnecessary health care costs associated with 22q Deltion syndrome's avoidable medical emergencies.
*Allow parents and physicians to manage patient care proactively by at least getting a proper diagnosis right out of the gates.
22Q People, Projects, and Campaigns You Should Know About!
This petition closed about 3 years ago
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...
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.