In December 2006 the Advisory Committee on Heritable Disorders in Newborns and Children, ACHDNC, met at the Hilton Washington Hotel in Washington, DC. I presented public comment during that session on why it was important for the committee to consider recommending SCID to the Secretary of Health. To date, the committee, which had been created in 2004, had not recommended any new test. The committee was still reviewing the history of newborn screening and trying to determine the criteria by which it should operate. Below is my public comment from that event. 

I want 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 mother of a boy with X-linked SCID. His name is Ray. Eleven years ago I created a network of SCID families dedicated to supporting one another in this journey we call SCID row. I am also a member of the Board of Trustees for the Immune Deficiency Foundation, the only national patient organization that has always been dedicated to improving the diagnosis and treatment of patients with primary immune deficiency.

Knowing that this committee has heard from Drs. Buckley and Puck for statistics on how many late diagnosed SCID children they’ve been able to document as having died as a result of that late or missing diagnosis, I wanted to bring to you a different perspective. I want you to understand what it often means to be a SCID survivor with a late diagnosis. When discussing SCID children who were not diagnosed at, or immediately after birth, my son Ray is one of the lucky ones. He’s still alive! When you review those statistics presented by Drs. Buckley and Puck, I want you to all remember that the survivors of late diagnosis are made up of kids like Ray. When he was born he seemed perfectly normal with great APGAR scores. Over the next several months he thrived, gaining weight and percentile while I nursed him, until he was 10 1/2 months old. This is when he was hospitalized with what turned out to be PCP pneumonia. He spent 4 1/2 months on a ventilator, was on the oscillator vent 3 times, had 13 chest tubes, and was trached. He was also diagnosed with an enteral virus. He received his first bone marrow transplant at a year old, while on the ventilator in the Duke PICU. Despite treatment, the enteral virus persisted, ultimately causing severe GI damage. The unrelenting infections also caused Ray’s transplant to falter. He partially engrafted, but as the immature immune system began to fight the infection, it wasn’t yet able to distinguish when it should stop killing. Consequently, Graft vs. Host disease began to ravage his body as well. The uncontrollable Graft vs. Host ultimately caused the graft to fail. He has since received 2 additional booster transplants.

His GI tract has never fully recovered from the damage which was caused first by the virus and then compounded by the Graft vs. Host. To this day, 12 years after his first transplant, he remains fed by both enteral and parenteral means. To the amazement of many respiratory therapists, Ray did come off the ventilator and his trach was removed. He does have severe lung damage and scaring which impacts his ability to participate in normal childhood activities. A consequence of the lung damage is that his heart must compensate for the reduced oxygenation his lungs can produce. He requires twice daily nebulizer treatments to maximize his breathing potential and immediate attention when he begins even the slightest cough. His daily medication list includes Singular, Bactrim, Prevacid, specialized vitamin supplements, rotating antibiotics for bacterial overgrowth, and every other week IVIG.

All the infections which ravaged his body had to be fought. Multiple antibiotics, antivirals and antifungals were pumped into his body. Unfortunately, many of these medications have their own nasty side effects. Ultimately, we learned that one of the antibiotics used to save his life had also left him deaf. Not a candidate for another implanted device, such as the cochlear implant, he wears biaural hearing aids and is taught in a hearing impaired special education program.

My son’s medical costs to date have already maxed out a $2 million insurance policy vs. the estimated $10,000 it would’ve cost to treat him had he been diagnosed as a newborn. I also want to emphasize that all my sons quality of life issues are a result of infections contracted during the delayed diagnosis period and are not inherent to SCID.

Infection is always the greatest risk to our SCID children. Viruses can be scariest of the communicable diseases because there’s not always an antiviral that is effective against which ever virus happens to be the one which attacks your child. It’s incongruous that in the era when we finally win the fight to stop the standard use of a live polio vaccine for out children as a protective measure, that we’ve recently approved other new live virus immunizations such as Flu-mist and Roto-Teq. Is it not unconscionable that we’ve approved a live rotovirus vaccine to be administered to children as young as 6 weeks, without first providing a method to identify those children for whom this vaccine could be devastating? Roto-Teq’s own literature states: “No safety or efficacy data are available for the administration of RotaTeq to infants who are potentially immunocompromised, including: those with certain disorders of the bone marrow or lymphatic system…” How are we to know that a 6 week old infant has SCID unless there is a mandatory screening test for newborns? With the growing acceptance of this new vaccine by pediatricians, the responsibility to protect those children who are most at risk of injury from the vaccine now lies with you, the members of this committee. As the realization that modern mutations of viruses are more and more a risk to the general population, more live virus vaccines will be developed and approved only compounding the risk to our undiagnosed SCID babies.

The current newborn screening panel provides a false sense of security to new parents because too few diseases are included in the panel. It is not ethical to not test, simply because the US does not have a universal health care system.

As to the excuse that a false positive could have dire effect, I must say that the effect of this would depend entirely on how the physician informed a family that additional testing was required. While a request for additional testing will cause concern, a proper approach by the physician can prevent it from being devastating news at this point.

I’d like now to share the thoughts and feelings of some of the parents of SCID children. Many of these parents have lost children due to a lack of a timely diagnosis and others are living with children with complications of late diagnosis ranging from neurological damage, to GI or respiratory damage.

From Clark: “Please stop the needless suffering of our children and institute a newborn screening policy.” Clark’s son has now been diagnosed with developmental delays as a complication to SCID.

From Joanne: New born screening will give our kids a greater chance at a long and healthy life, and it will take away the risk that the diagnosis comes too late.

From Mary: Had my son been diagnosed as a newborn, I would’ve never have had to endure threats from the State Department of Health and Rehabilitative Services, that my child would be taken away from me for neglect due to his failure to thrive and repeated infections. It was months after his death before I learned that he had died of SCID and was able to clear my name.

From Lisa: My son lives with the struggles of Cerebral Palsy everyday of his life because of his time on ECMO, which would have been prevented had he been diagnosed at birth instead of 4 ½ months.

From Michelle: Life is enough of an adventure – without wearing an iv and oxygen all day everyday – it’s too late to make my daughter’s life easier (while she waits for a lung transplant) but, with newborn screening, you can help other children have a better quality of life.

From Felicita: Please, give me the chance to thank you someday.

Repeatedly parents echo the sentiments of “please give future children a better chance than my son/daughter had”… “Please save our babies”… etc. I think this particular sentiment was expressed best by another mom named Lisa:

Newborn screening would have detected my first son’s abnormally low white count thereby pointing to an immune deficiency and prompting additional testing before he became seriously ill.

Or put this way:
Cost in time: 2 1/2 years of hospitalization & 10 years, so far, of grieving for ^James^

Cost in dollars: Over $1.2 million in medical bills alone

Cost in procedures: 2 haploidentical bone marrow transplants, 1 cord blood transplant after chemotherapy, innumerable infections, bone marrow biopsies, sedations, operations, medications, ventilatory support, antibiotics, blood draws, catheterizations, & the list could go on

Newborn screening that detects SCID or at least prompts additional testing when there is a concern: Priceless.