Petitioning Congressional Down Syndrome Caucus Cathy McMorris-Rodgers and 21 others

Support CHARLIE HART'S RULE as a rider to the Kennedy Brownback Law (aka The Prenatally and Postnatally Diagnosed Conditions Awareness Act)

Prospective Sponsor: Representative Doug Collins[R-GA]

Bill No:

Charlie Hart’s Rule

As proposed by U.S. House of Representatives

A bill to amend the Public Health Service Act, as a rider to The Kennedy Brownback Law (aka The Prenatally and Postnatally Diagnosed Conditions Awareness Act), to ensure precise diagnosis and rule-out missed mosaicism, in order to accurately give scientifically sound information, appropriate medical care, and support services of a chromosomal condition such as Down syndrome or other prenatally or postnatally diagnosed conditions.

Whereas, Down syndrome is the most common genetic disorder caused by chromosomal abnormality, with approximately 1 in every 800 being diagnosed every year. Mosaicism for Down syndrome is less commonly diagnosed due to lack of legislation mandating sufficient numbers of chromosomes being examined. Exclusion of Chromosomal Mosaicism with Tables of 90%, 95%, and 99% Confidence Limits by EB Hook (Am J Hum Genet 29:94-97, 1977, item 1) illustrates that mosaicism for a chromosomal condition cannot be ruled out confidently when less than 500 cells are examined.

Whereas, every year, 92% of mothers who receive a prenatal diagnosis of Trisomy 21 Down syndrome, based on 20 cell counts, choose to terminate their pregnancy. (Mansfield et al., 1999;Egan et al., 2011; items 2, 3) Many mothers are aborting fetuses, which would have otherwise been diagnosed with mosaicism or not diagnosed with Down syndrome at all, based on 20 cell counts; this could be the cause of human error in testing due to lack of legislative intent.

Whereas, with mosaicism, there is a tendency towards normal cell lineage (Medical Care in Down Syndrome, Rogers and Coleman, item 4); someone with mosaicism has a lessening percentage of trisomic cells with age for the betterment of the child.
Whereas, Trisomy 21 Down syndrome and Mosaic Down syndrome are similar, but not under the same diagnostic criteria, which would call for standards in testing currently not in use due to lack of mandated guidelines. The number of cells examined when testing for a chromosomal condition appears to be of an insufficient nature to give accurate diagnostic information regarding a chromosomal condition, and emergency public law must be put in place to mandate that a minimum of 500 cells be examined whenever chromosome testing is performed.

Whereas, So it be said, chromosomal testing has been found to be likely inaccurate, with incorrect information being provided about prenatal or postnatal diagnosed chromosome conditions, when any less than 500 cells are examined during chromosomal testing.

Whereas, So it be said, parents are entitled and afforded under the Prenatally and Postnatally Diagnosed Conditions Awareness Act to have scientifically sound information and support services regarding diagnosed chromosomal disorders.

Herein, we have heard overwhelming evidence showing the need for CHARLIE HART’S RULE. The impact of wrong diagnosis can affect the lifelong care of the child.

CHARLIE HART’S RULE shall go into effect immediately upon passage of the House of Representatives and the Senate and after being signed by the President.

Therefore, So it be said, From this ___________ day of _____________ in the year 2015, CHARLIE HART’S RULE, as a rider to the Prenatally and Postnatally Diagnosed Conditions Awareness Act under the Public Health Service Act, be enacted to mandate all prenatal and postnatal chromosomal testing must be performed by examining a minimum of five hundred cells to ensure more accurate and correct, scientifically sound information is provided about a prenatally or postnatally diagnosed condition such as Down syndrome.

Charlie Hart’s Rule
A bill to amend the Public Health Service Act, as a rider to the Prenatally and Postnatally Diagnosed Conditions Awareness Act, to ensure precise diagnosis and rule-out missed mosaicism, in order to accurately give scientifically sound information, appropriate medical care, and support services of a chromosomal condition such as Down syndrome or other prenatally or postnatally diagnosed conditions

Definitions:

Mosaicism: means that the cells in a body do not all have the same chromosomal makeup; some cells may be affected by a trisomy, for example, whereas other cells have a normal number of chromosomes.

Trisomy: a specific type of chromosome abnormality in which an individual has three rather than two copies of a particular chromosome.

Trisomy 21 Down Syndrome: is when an extra copy of chromosome number 21 is present in 100% of the cells within the body.

Mosaic Down syndrome: a chromosomal condition where two or more cell lines are found through diagnostic testing, and only a percentage of the cells are affected by trisomy.

Terminate (pregnancy): the artificially induced expulsion of an embryo or fetus with destruction of said embryo or fetus.

Chromosomal testing: a laboratory procedure in which cells of the blood and/or skin are examined to determine or rule out chromosomal abnormality.

Letter to
Congressional Down Syndrome Caucus Cathy McMorris-Rodgers
GA Rep Lynn Westmoreland Kevin Davis
GA Rep Rob Woodall Janet Rossi
and 19 others
Scheduler
CWA Alexandria Paolozzi
Congressman 9th District Doug Collins
Director, CWA, Georgia Chapter Tonya Ditty
Representative Dan Gasaway
Congressman Doug Collins Office-Scheduler Darren Kendall
Congressman Doug Collins office Jacque Borstock
GA Rep David Scott Lauren Lattany
GA Rep Austin Scott Jessica Robertson
GA Senator Johnny Isakson
GA Rep. John Barrow Thomas Hill
GA Rep. Sanford Bishop Jonathan Halpern
GA Rep. Phil Gingrey Robert Horne
GA Rep. Tom Graves Jason Murphy
GA Rep. Hank Johnson Scott Goldstein
GA Rep Jack Kingston Kristyn Vermeesch
GA Rep John Lewis Michaeleen Crowell
GA Rep Tom Price Laura Holland
GA Senator Saxby Chambliss (GA Senator)
I just signed the following petition addressed to: Representative Doug Collins, Congress, the President et al. Please advocate for this emergency legislation to clarify the existing law regarding The Prenatally and Postnatally Diagnosed Conditions Awareness Act. The Kennedy Brownback Law states that "accurate, up-to-date, and scientifically sound information must be provided" whenever a chromosomal diagnosis is sought; however, this law is being broken everyday because there are no guidelines in place to mandate how one obtains the most accurate, up-to-date, and scientifically sound information. Mandating a minimum of 500 cells be examined would give the patient a diagnosis with 99% confidence limits. One wrong diagnosis and incomplete or inaccurate information can severely impact a child's life and cause irreversible damage to the child's well-being because one wrong diagnosis inevitably leads down the path of medical maltreatment and future misdiagnoses. For some families, an inaccurate diagnosis and inaccurate information can mean the difference between the life and death of an unborn. For others, a wrong diagnosis can mean delayed treatment or no treatment in a case of a missed mosaicism and no diagnosis at all; a few cells out of 20 being closely examined out of trillions in the human body are not sufficient in number to rule a diagnosis in or out, and this is the current unwritten standard in the medical industry. Certain speech conditions are associated with particular types of Down syndrome. Apraxia is more common in children with Mosaic Down Syndrome and mild speech delay is more commonly associated with Trisomy 21 Down syndrome; being mistreated for what is thought to be mild speech delay when the child actually has apraxia associated with MDS can severely impact a child's speech, language, and literacy for a lifetime. Early intervention is critical for our children and correct treatment is vital to their well-being and care. There is nothing wrong with a correct diagnosis, but there is something inherently wrong with an incorrect diagnosis. The common unwritten standard in the industry is to closely examine a few cells out of a mere 20 cell count; this simply is not quantitative and leads to most being incorrectly diagnosed whenever chromosome testing is sought. Many people are not finding out until they enter research where researchers examine 1,000 cells to be certain of their diagnosis (because diagnoses are important), oftentimes as an *adult*, that their condition is mosaic instead of the full blown condition. The medical field has different coding for the different types of chromosomal disorders, with Mosaic Down Syndrome and Trisomy 21 Down syndrome being coded differently, because they are in fact different and the children often follow different therapy paths. There are many different types of Down syndrome, with four major types. Parents, as well as the patients themselves, have just as much right as researchers to know which type of chromosomal condition their child has; they deserve to know everything there is to know about their condition.

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Sponsor the BILL; Pass "CHARLIE HART'S RULE"; and make it a LAW

Prospective Sponsor: Representative Doug Collins[R-GA]

Bill No:


Charlie Hart’s Rule



As proposed by U.S. House of Representatives

A bill to amend the Public Health Service Act, as a rider to the Prenatally and Postnatally Diagnosed Conditions Awareness Act, to ensure precise diagnosis and rule-out missed mosaicism, in order to accurately give scientifically sound information, appropriate medical care, and support services of a chromosomal condition such as Down syndrome or other prenatally or postnatally diagnosed conditions.

Whereas, Down syndrome is the most common genetic disorder caused by chromosomal abnormality, with approximately 1 in every 800 being diagnosed every year. Mosaicism for Down syndrome is less commonly diagnosed due to lack of legislation mandating sufficient numbers of chromosomes being examined. Exclusion of Chromosomal Mosaicism with Tables of 90%, 95%, and 99% Confidence Limits by EB Hook (Am J Hum Genet 29:94-97, 1977, item 1) illustrates that mosaicism for a chromosomal condition cannot be ruled out confidently when less than 500 cells are examined.

Whereas, every year, 92% of mothers who receive a prenatal diagnosis of Trisomy 21 Down syndrome, based on 20 cell counts, choose to terminate their pregnancy. (Mansfield et al., 1999;Egan et al., 2011; items 2, 3) Many mothers are aborting fetuses, which would have otherwise been diagnosed with mosaicism or not diagnosed with Down syndrome at all, based on 20 cell counts; this could be the cause of human error in testing due to lack of legislative intent.

Whereas, with mosaicism, there is a tendency towards normal cell lineage (Medical Care in Down Syndrome, Rogers and Coleman, item 4); someone with mosaicism has a lessening percentage of trisomic cells with age for the betterment of the child.
Whereas, Trisomy 21 Down syndrome and Mosaic Down syndrome are similar, but not under the same diagnostic criteria, which would call for standards in testing currently not in use due to lack of mandated guidelines. The number of cells examined when testing for a chromosomal condition appears to be of an insufficient nature to give accurate diagnostic information regarding a chromosomal condition, and emergency public law must be put in place to mandate that a minimum of 500 cells be examined whenever chromosome testing is performed.

Whereas, So it be said, chromosomal testing has been found to be likely inaccurate, with incorrect information being provided about prenatal or postnatal diagnosed chromosome conditions, when any less than 500 cells are examined during chromosomal testing.

Whereas, So it be said, parents are entitled and afforded under the Prenatally and Postnatally Diagnosed Conditions Awareness Act to have scientifically sound information and support services regarding diagnosed chromosomal disorders.

Herein, we have heard overwhelming evidence showing the need for CHARLIE HART’S RULE. The impact of wrong diagnosis can affect the lifelong care of the child.

CHARLIE HART’S RULE shall go into effect immediately upon passage of the House of Representatives and the Senate and after being signed by the President.

Therefore, So it be said, From this ___________ day of _____________ in the year 2015, CHARLIE HART’S RULE, as a rider to the Prenatally and Postnatally Diagnosed Conditions Awareness Act under the Public Health Service Act, be enacted to mandate all prenatal and postnatal chromosomal testing must be performed by examining a minimum of five hundred cells to ensure more accurate and correct, scientifically sound information is provided about a prenatally or postnatally diagnosed condition such as Down syndrome.










Charlie Hart’s Rule
A bill to amend the Public Health Service Act, as a rider to the Prenatally and Postnatally Diagnosed Conditions Awareness Act, to ensure precise diagnosis and rule-out missed mosaicism, in order to accurately give scientifically sound information, appropriate medical care, and support services of a chromosomal condition such as Down syndrome or other prenatally or postnatally diagnosed conditions


Definitions:

Mosaicism: means that the cells in a body do not all have the same chromosomal makeup; some cells may be affected by a trisomy, for example, whereas other cells have a normal number of chromosomes.

Trisomy: a specific type of chromosome abnormality in which an individual has three rather than two copies of a particular chromosome.

Trisomy 21 Down Syndrome: is when an extra copy of chromosome number 21 is present in 100% of the cells within the body.

Mosaic Down syndrome: a chromosomal condition where two or more cell lines are found through diagnostic testing, and only a percentage of the cells are affected by trisomy.

Terminate (pregnancy): the artificially induced expulsion of an embryo or fetus with destruction of said embryo or fetus.

Chromosomal testing: a laboratory procedure in which cells of the blood and/or skin are examined to determine or rule out chromosomal abnormality.

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Sincerely,