Texas Born~Newborn Screening in the Lone Star State: SCID (Severe Combined Immunodeficiency)

I recently had the opportunity to virtually “meet” Jennifer Garcia, an amazing mom on a mission. This is her story of her son, Cameron, and his battle with Severe Combined Immunodeficiency (also known as the “Bubble Boy Disease“). I am honored to know Jennifer and blessed that she has allowed me the opportunity to share her and her son’s story in an effort to increase awareness about Newborn Screening, specifically in Texas.

From Jennifer:

photo courtesy of Jennifer Garcia

On behalf of Cameron, our family and all families living with the effects of SCID we would like to ask for a few minutes of your time to hear our story. We are Cameron’s parents. Cameron passed away from complications of SCID on March 30, 2011, at 9 months old.

Cameron was born on June 30, 2010 in Texas. Cameron underwent state newborn screening, and was discharged from the hospital as a “normal newborn.” Little did we know that Texas does not screen their newborns for everything nationally recommended.  If we had lived in Massachusetts or Wisconsin, Cameron would have been screened at birth for SCID. If that newborn screen had been available for Cameron then his journey, our journey, and our lives would have been much different.

Brothers…

photo courtesy of Jennifer Garcia

Cameron has an older brother, Gavin, who is now 5. Gavin has been healthy all of his life. We expected nothing less from Cameron. We considered ourselves blessed to have two beautiful, healthy boys.

Months passed and Cameron thrived, met milestones, was usually in the 90% in both height/weight, and at time s even exceeded his brother at the same age markers. Cameron’s only ailment was recurrent ear infections, not unlike many babies including his brother. Like Gavin, Cameron got tubes in his ears at 7 months, but he continued to have cold symptoms. Cameron would be hospitalized for pneumonia shortly after he received his tubes.

 February 24th 2011 would be the beginning of our journey, changing our lives forever…

               Hospitals…                                                    

photo courtesy of Jennifer Garcia

                   

After a week at our local hospital being treated for pneumonia with only minimal improvements, we were transferred to Houston on March 3rd, 2011. Within 4 hours of arriving at Children’s Hermann Memorial Hospital in Houston, Texas, Cameron was intubated and put into an induced coma for what was thought to be seizures.

We would not get to hold Cameron in our arms again for over 4 weeks, until the last moments of his life, and he passed away.

 Cameron endured many tests: CAT scans, MRI’s, EEG’s, spinal taps, blood transfusions and massive doses of antibacterials, antivirals, and antifungals, just to list a few. Eight teams worked on him daily: Critical Care, Pediatrics, Neurologists, Epileptologist, Toxicologists, Immunologists, Infectious Disease, and Respiratory Therapists.

Ten days after arriving at a major medical center Cameron was diagnosed with SCID on March, 13th 2011. Cameron was 8 months old. For some infants diagnosis can take months, or is failed to be determined at all.

SCID…(Severe Combined Immunodeficiency)

SCID occurs in approximately 1 out of every 33,000 live births. Some states currently screening are finding that it could be as frequent as 1 in 22,000 in the Hispanic community. The expected occurrence of infants born in Texas with SCID each year is 18-20.  Most cases of SCID have no previous family history. There was no history of SCID in our family.

If SCID is identified in the first months of life, such as through newborn screening, and before severe infections occur, 94% of infants are successfully treated by a bone marrow transplant. For many, this is a cure.  If SCID is not diagnosed before infections, survival rates drops dramatically. Unfortunately for Cameron, he was not diagnosed as a newborn because Texas does not screen newborns for SCID.  Each day that passed Cameron’s chances at survival were diminishing.

Treatment costs for infants before severe infections occur can be as low as $50,000 Cameron’s medical treatments have totaled almost $1,000,000 to date. In addition to the stress of medical bills, our baby’s funeral expenses were over $3,800. The national estimated cost of the newborn screening test for SCID is a mere $5 – $7 per infant.

Screening…

SCID was added to the National Recommended Uniform Newborn Screening panel in 2007. Texas, however, has failed to act. Texas is the home state of David Vetter, the “Bubble Boy”, and the most famous SCID case known. Texas has a special place in history for SCID, yet some 30 years later we have not started screening our newborns for SCID.

After his death we requested his newborn blood spot be screened for SCID in a small pilot program currently being conducted in only a few Texas hospitals through the Texas DSHS for research purposes.

photo courtesy of Jennifer Garcia

We were informed that Cameron did test positive for SCID at birth after his blood spots were screened.

We found out 9 months too late for Cameron.

With SCID newborn screening, Cameron’s life could have, and would have been saved.

Please support newborn screening for SCID; it is an identifiable and treatable condition!

Editor’s note-  Jennifer’s and Cameron’s story does not end here. I first read about Jennifer in this article, just a few short months after loosing her son to this horrible disorder. Jennifer became a mom with a mission and was successful in lobbying for the state of Texas to start a pilot program for SCID which has now led to the approval for implementation of SCID to the  Newborn Screening panel in Texas which was to begin in  September 2012 but has now been delayed until December 2012. Cameron’s legacy will live on in Texas as his mom has done everything in her power to make sure another family does not endure the loss that her family endures, due to Severe Combined Immunodeficiency.

In honor and memory of Cameron, please share this blog post with a mother you know who is expecting a child soon so they can be sure their child is screened at BIRTH for this disorder. To see if your state screens for it, click here. If your state does not screen for it but you would like to have your baby screened for it you can request a supplemental screening kit from Perkin Elmer Genetics for $49 here, or a supplemental screening kit (includes SCID plus others) for a $100 donation (to Grey’s Gift) here.

Editor’s Note-

As of December 1st 2012.. SCID is being done in TEXAS… thanks to Jennifer Garcia!

Congratulations to Jennifer for being named “March of Dimes Outstanding Volunteer Advocacy for Texas 2012

The Press Release is here

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This entry was posted in Advocacy, Genetics, Medical, Newborn Screening, Texas Born and tagged , , , , , . Bookmark the permalink.

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