On 2/26/09 The Advisory Committee on Heritable Disorders in Newborns and Children met at the Pooks Hill Marriott. This is the committee who decides whether or not to recommend any new newborn screening tests to HRSA. The committee has been meeting since June 2004 and so far has not recommended one newborn screening test. The newborn screening test for SCID came closer to being recommended on Thursday the 26th. But, ultimately the committee decided to wait. Why? mainly because neither of the 2 ongoing pilot studies, Wisconsin and Massachusetts, has yet to diagnosis an actual case of SCID. The fact that they’ve diagnosed 2 cases of DiGeorge and one neutraphil defect that is so rare that this is only the 2nd diagnosed case ever, wasn’t convincing enough. They want to see an actual case diagnosed. I could see their argument if there was a question on whether or not the test COULD pick up a case of SCID, but that’s not the concern. They just want to see it happen. So, in the meantime, if your child is not born in Wisconsin or Massachusetts and they have SCID, you just get to wait until they get sick to find out. Of course, that will likely be after they are past the age of 3.5 months, which is the point at which the success rate for transplantation decreases. Are you starting to wonder what tests are done on babies in your state? Look here.
Below is the public comment statement which I read to the committee on behalf of SCID families. Apparently, the evidentiary review that was done for the committee didn’t even bring up the fact that live virus vaccines are a huge risk to these undiagnosed children.
I would like to thank the committee for this opportunity to represent the families of children with Severe Combined Immune Deficiency. My name is Barbara Ballard and I am the mother of a boy with X-linked SCID. I am also the administrator for group of SCID families dedicated to supporting one another in this journey we call SCID row.
It was 25 years ago this week that David Vetter, the “Texas Bubble Boy” died. Despite being diagnosed as a newborn it took doctors years to offer any treatment other than a plastic bubble because transplants were only an option if you had a matched donor. There were no donor registries, and half matched transplants would not be available for more than another decade. Today bone marrow transplants are the standard of care for the majority of SCID patients. An effective method to diagnose SCID from a simple blood spot now exists. SCID families passionate to improve the rate of diagnosis have given their children’s very blood toward improving the rate of diagnosis.
Let me talk a moment about Quality of Life for those children who are lucky enough to be survivors of this disease. Specifically I want to talk about those children who were not diagnosed as newborns, those children who had to be sick before doctors could diagnosis the problem. My son Ray is one such child. Ray is now 15 years old. Born seemingly normal, he thrived for several months until he caught his first cold. Within days of first entering my pediatrician’s office with a child that I thought might have a virus, he was in the PICU and on a ventilator with PCP pneumonia. He spent 4 ½ months on a ventilator, had 13 chest tubes, and was trached. He received his first bone marrow transplant at a year old while on the ventilator in the Duke PICU. An enteral virus ultimately caused severe GI damage. His GI tract never fully recovered and he remains fed by enteral and parenteral means. Infection and Graft vs. Host disease caused his graft to fail and he has required 2 additional booster transplants. He managed to come off the ventilator and his trach was eventually removed, but he has severe lung damage and scarring which significantly limits his ability to participate in normal childhood activities.
All the infections had to be countered with multiple antibiotics, antivirals and antifungals. Ultimately, we learned that one of the antibiotics used to save his life, had also left him deaf.
My son’s medical costs maxed out a $2million insurance policy by the time he was 5 years old. Though Ray survived when many have not, his life will continue to have many costly challenges which could have been prevented. Benefits of early diagnosis for him would have been a life without these ongoing costs and challenges.
My son is not alone in having long term medical complications resulting from a delay in diagnosis. As the administrator for a support group of SCID families, I can tell you many similar stories. It is for all the SCID children, surviving and lost, that I speak today.
Modern viruses are becoming more of a risk even to the general population. The best way to battle many of them has been the development of live virus vaccines. It is now considered “safe” to give a live rotavirus vaccine to an infant who is only 6 weeks old. How is a pediatrician to know that a 6 week old infant has SCID, unless there is a mandatory screening test for newborns? It is unconscionable that the administration of a live vaccine to children as young as 6 weeks has been approved without first providing a method to identify those children for whom this vaccine could be devastating. The responsibility to protect those children who are most at risk of injury from these vaccines now lies with you, the members of this committee. As more live virus vaccines are developed to protect the general population it compounds the risk to our undiagnosed SCID babies and compounds your obligation to protect them.
There are those who would argue that a false positive test for SCID would be too dire for the family involved. I disagree. When I asked the SCID families their perspective on this argument; those families were overwhelmingly shocked to learn that there was more concern for a family with a healthy baby who might be asked to repeat a test, then for a family with an undiagnosed SCID baby who might not learn of that diagnosis until after they have buried their child.
SCID is a disease which cannot be seen or identified at birth without a blood test. Children with SCID are born looking and acting seemingly normal. A simple and reliable test for SCID now exists. We can easily identify affected children before they contract their first cold. Without this early diagnosis and the now standard medical treatments, the damage caused by infections allowed to ravage the bodies of these children, will cause irreversible damage and very often death. How many children must suffer with a diminished quality of life, how many children must die before you say that it’s too many? We have the technology, we have the science, we now need the prudence to step up to the plate and make this test a standard of care.