I'm thankful for all the hard work it has taken to move this regulatory action this far and hope the momentum continues. This is such an important issue for the infants and children in the Commonwealth of Virginia. No child should die from a disease which can so easily be detected. This test makes sense as a health initiative, as a budgetary issue, and as an ethical issue. Now lets finish the job and move the Regulatory Action on to completion!

July 21, 2014

Dev Nair, PhD, MPH
Director, Policy and Evaluation Division, OFHS
Commonwealth of Virginia
Patrick Henry Building
1111 East Broad Street
Richmond, VA 23219
 

RE: Support for Amendment to Administrative Code 12VAC5-71: Amend regulations to add Severe Combined Immunodeficiency (SCID) to the Virginia Newborn Screening System core panel of heritable disorders and genetic diseases.

In response to the proposed rule change to add SCID newborn screening to Virginia’s newborn screening protocol, the Immune Deficiency Foundation (IDF) would like to provide you with comments in support of this vital decision. 

Founded in 1980, IDF is the national patient organization dedicated to improving the diagnosis, treatment and quality of life of persons with primary immunodeficiency diseases through advocacy, education and research. These diseases occur in persons born with an immune system that is either absent or hampered in its ability to function. The World Health Organization recognizes more than 200 primary immunodeficiency diseases. Severe Combined Immune Deficiency (SCID), also known as “bubble boy” disease, is one of the rarest and the most devastating of these diseases. 

The diagnosis of SCID very early in life is a true pediatric emergency, and the decision to screen for SCID will literally save the lives of infants in Virginia.  Affected infants lack T lymphocytes, the white blood cells that help resist infections due to a wide array of viruses, bacteria and fungi. As a result, these babies, who appear healthy at birth, are extremely susceptible to serious illness and usually die if left untreated. 

The good news is that if a baby is diagnosed and treated, usually with a bone marrow transplant, within the first months of life, studies show that there is over a 90% survival rate.  If diagnosis is later, after infections have set in, even a successful bone marrow transplant does not guarantee survival and can still leave a patient with persistent health problems. There is but a small window between life and death for these babies. 

Considering the prevalence of SCID, it is estimated that 2-3 babies in Virginia will be born with SCID each year.

Twenty-one states, the District of Columbia and the Navajo Nation have already implemented newborn screening for SCID. Based on the screening done in these states, SCID is estimated to occur in approximately 1 in 40,000 to 1 in 70,000 births.  Newborn screening has led to the identification and treatment of dozens of infants with SCID and many more with other kinds of T lymphocyte deficiencies in those states that are screening.  All of these babies will now have the opportunity for early treatment and the chance of a normal, healthy life because they had early detection. 

Your approval of the pending regulations will save the lives of babies in Virginia.  We hope that Virginia will join the 21 other states that are currently screening for SCID.  If you need further information, please contact Emily Hovermale at ehovermale@primaryimmune.org or 443-632-2544. 

Sincerely,

Lawrence A. La Motte

Vice President, Public Policy

 Having lost a grandson at six months to SCID we are definitely in favor of testing all pregnancies for SCIDS.   The enormous cost emotionally, mentally and economically make this a focus that is a small investment for a huge return.

My wife and I have lost one child to SCID and had another who fights for his life everyday. My 3rd child, Brody, passed away on 7/7/8. At the time, the doctors didn't know why. When my 4th, Brayden, was diagnosed with SCID, everyone was very confident that Brody died from complications from SCID and was never diagnosed properly. The test costs so little and can save so many lives. The sooner SCID is diagnosed, the easier it is to treat. This is a 100% no brainer that must, must, MUST, occur!!

Here is Brody's virtual memorial page. Honestly, if this doesn't move you to work towards this, I do not know what will. And it must happen now. 

http://www.virtual-memorials.com/main.php?action=view&mem_id=14431&page_no=1

Once there was a time that I'd never heard of SCID. Then I met my friends who lost a son to SCID. A few years later, they almost lost another before they had it diagnosed.  No family should  ever have to suffer the loss of a child due to medical incompetence.  Our children NEED this screening.  A vote against this Is a vote against the health and well-being of our future generation. 

As the grandmother of a beautiful grandson who lost his battle with SCID at 5 months of age I implore you to add this test to newborn screenings in Virginia.  SCID is highly responsive to treatment if diagnosed at birth (94%-97% success rate). 

I have dear friends who lost one child due to a lack of screening, and almost lost another. Only through traveling to another state and putting forth some very drastic expense for bone marrow transplants were they able to save the life of their second child born with SCID. These amazing parents have made a conscious decision to have no more children because they can't bear again to go through the heartbreak they've endured for two children. This is a simple test. My heart breaks to think about the parents out there who could lose a child due to ignorance of their child's propensity for this condition, when screening could easily educate them. I'm a very fiscally conservative person, but I would be more than happy to earmark my tax dollars for screening. 

Seems a simple matter to add testing for SCIDS to newborn screening and it has the potential to avert great suffering for affected infants and their families.

Please include SCID testing as a mandatory newborn test! This is an extremely important test that could save many children's lives and should be done nationwide!!!

Please Pass this Bill, as no one needs to go through the horror of losing a child.  With such a simple test at the beginning,

this is

The RIGHT THING to DO!

It is of vital importance to pass this in order to start screening for SCID . It is the only humane thing to do and it will also be cost effectve. Pass this, get it done now.

Charlotte Hisey

This is a devastating condition and could be helped by infant screening.  For minimal cost devastation could be possibly avoided.  Thank you for your consideration.ts here. 

I support the adding of SCID to newborn screenings.  No one, neither affected baby nor parents, family and friends who love them should have to go through a highly preventable-when-detected loss.

Please vote in favor to amend regulations based on recommendations of VA Genetics Advisory Committe.  Getting regulations passed to test for Severe combined immunodeficiency (SCID) in newborns is critucal.

Thank you.

please amend this law to save lives and families. It will help keep medical costs down as well with early screening and treatment.

Please add SCID to routine newborn screenings - it can save lives.

I kept up online with the difficult hospitalization and death of a baby afflicted with SCID. Although I did not know the parents personally, I was deeply affected, as anyone would be, to witness such a loss. If the parents of newborns who suffer this disease are recommending that it be added to newborn screenings, I suggest that we listen to them. 

I am in favor of SCID Newborn Screening. Early detection is key.

This screening should be mandatory in the state of va. It would save lives and I personally see no reason to NOT do this screening! I know several families effected by this awful monster and screening would have prevented tremendous heartache. 

This is an affordable test that will save the live of affected babies through newborn screening.  Why would you not add SCID to newborn screenings? 

Please vote for SCID screening for newborns.

Please add SCID to newborn screening tests.  Our family lost a beautiful boy at 5 months of age to SCIDs. The heartache and devestation that this causes is insurmountaable and even more so knowing that it could have been detected and prevented.  Please add SCID to newborn screening tests so that childrens' lives can be saved.

I am writing to urge you to add SCID testing to the list of routine testing done for newborns.  I am a mother of young twins who lives in Virginia.  I am fortunate to have healthy kids, but others aren't as lucky.  We need to do all we can to prevent childhood diseases, but especially those like SCIDs that are largely preventable with appropriate, early screening.  It would save money, but much more importantly, it would spare parents and other family members from such pain and suffering.  Let's do it!

I am a grandmother whose 5 month old grandson died because the doctors had no idea what his illness was.  They tried everything possible to cure him but to no avail.. Two years later another grandson was born and became ill also.   One doctor thankfully recognized that he too must have the same illness as the previous baby and immediately sent him to Duke for a bone marrow transplant.  This baby was saved.  If testing had been available the first baby could have been saved and the second one could have been diagnosed much sooner.   Please pass the necessary legislation to test for this disease.  ype over this text and enter your comments here. You are limited to approximately 3000 words.

Please add SCID Newborn Screening to the routine testing done in the state of Virginia for infants.  Having watched a wonderful family go through the agony and grief of losing a 5 month old son to this disease, I would like the state to add this regulation so that this preventable and potentially fatal illness doesn't strike another family just beginning to enjoy their time with a new life.  Preventing this for more families would be a fitting tribute to little Hayes..

I’ve never read your blog before, but, seriously, thanks for writing this article justice