[spectrum] redefined MORE CELLS TESTED MAY INFLUENCE DIAGNOSIS AND Increase CARE

Context & Overview of Mosaic Pilot Study - Sonya Cabral and Brandy Hellard

DOWN SYNDROME: What actually is Down Syndrome?

The answer today - Trisomy 21 is a genetic chromosome 21 disorder causing developmental and intellectual delays. It's the most common chromosomal condition, and the largest genetic disability.

The term Down Syndrome wasn't widely used until about 1970. That was long before scientists discovered water on the moon, invented the iPhone, and made extraordinary advances in genetics.

Today, we are on the edge of new advances where science, healthcare, education, technology, and patients converge. It is possible that we are not finished defining what Down Syndrome really is - or the spectrum of people on it (or other chromosomal conditions). A diagnosis of Mosacisim has often suggested that we are the outliers. We have been told we are the 1-2%.

As a result, we are comfortable outside of conventional norms.

At the International Mosaic Down Syndrome Association (IMDSA) we believe there is a spectrum - where individuals who may not meet conventional criteria can be left undiagnosed, and as a result missing out on early intervention, and vital health care services.

Mosaic Down Syndrome

Mosaic Down Syndrome (Mosaicism) is the least diagnosed form of Down Syndrome. Individuals with Mosaicism challenge conventional diagnosis because they may:

  • Be high functioning
  • Not present conventional physical traits
  • Not test positive on prenatal or standard genetic tests

The International Mosaic Downs Syndrome Society receives volumes of calls, emails, posts, and photos from concerned parents who have been through genetic testing - but still believe their child has some form of Down Syndrome.

50 TRILLION vs 20: The real risks of a negative diagnosis

The standard genetic tests for Down Syndrome today examines 20 cells. Yet our bodies have over 50 TRILLION cells.

Individuals who are very high functioning, do not have conventional physical traits, or test negative may still possess the inherit health risks associated with Down Syndrome.

The IMDSA is launching a campaign to fund a pilot that will expand the testing beyond 20 cells for individuals who may have Mosaicism but don't test positive with a standard 20 cell genetic test covered by insurance.

The real risk of a negative diagnosis: Genetic testing cracks children fall through

If a child has a diagnosis of ADHD, Autism, or Down Syndrome in most places they are automatically eligible to receive vital services. Health care providers have likely been trained to monitor and screen for health conditions that may impact them. Educators design learning experiences to help them excel.

There are several post-natal tests to diagnose Down Syndrome:

  • Standard: covered by insurance (20 cells)
  • Buckle swab: which tests skin (300 cells)
  • Blood draw: blood test (500 cells)

20 cells is not enough.

If a child with a chromosomal diagnosis such as Mosaicsm goes undiagnosed through a lab test they may not have access to the same medical or social services as an individual with a formal diagnosis of Down Syndrome.

About the International Mosaicism Pilot:

The IMDSA is launching a campaign lead by Dr. Colleen Jackson-Cook to fund a pilot study that will expand the testing beyond 20 cells for individuals who may have a Mosaicism but don't test positive on the traditional Down Syndrome genetic test. Dr. Colleen Jackson-Cook and her team, from Virginia Commonwealth University, will be leading the research for this study. Dr. Jackson-Cook’s qualifications include expertise and board certification in clinical cytogenetics and medical genetics (PhD). She has studied people with mosaic Down syndrome for over 29 years.

For some parents and caregivers who are working through their normal insurance providers the cost for testing can often be prohibitive or impossible.

Our goal of raising $10,000 will empower leading Down Syndrome researchers to gather blood samples (500 cell count samples - not just 20) to tests for Down Syndrome.

There are multiple ways you can help with this important study:

  • Contributions: Make a contribution which will help other families seeking an accurate diagnosis. Funds will directly empower leading Down Syndrome researchers to gather larger cell count samples to help lead to more accurate diagnosis.
  • Participate: If you (or your child) would like to participate in the study, and meet the basic criteria below, please contact us today as spots are limited - but we do seek to help every family.
  • Join us: Stay close as we break the mold, challenge convention, and work to connect families, researchers, donors, and doctors.

To be eligible to participate in the pilot study:

  1. Pilot participants have to have completed the standard genetic test for Down Syndrome
  2. Participants can not yet have a diagnosis of Down Syndrome
  3. Additional eligibility information is available online and if you have any questions about eligibility you can simply call us at 1-855-IMDSA-21
"Never doubt that a small group of thoughtful, committed citizens can change the world; indeed, it's the only thing that ever has." -Margaret Mead Read

If you are new to Down's Syndrome Community or are seeking to learn more, the groundbreaking research about the future of chromosome therapy in Downs Syndrome from Dr. Jeanie Lawrence of UMASS,

Credits:

Created with images by wonderferret - "Auckland train station decorations" • multanka - "agate druza stone" • mandam - "chromosome" • BLM Nevada - "2017 Reveille Wild Horse Release"

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