A Pediatrician’s Quick Thinking Saved Maggie Grace

Jan 23 2013 :: Published in Newborn Screening and Genetics

By Trish Cook, Maggie’s mother

Baby Maggie

On June 27th 2012, Maggie Grace was born, the only little girl on both sides of our family. With her unexpected red hair and bright blue eyes, she was the most beautiful girl I had ever seen.

The day after she was born was perfect. Friends and family came to the hospital and cuddled her for hours without her making a fuss. Not even her super-excited three-year-old brother could coerce a cry from her. At the time, we thought she was simply a very easy-going baby. My only nagging concern was that she wouldn’t nurse. Experts marched in and out of the room during every feeding with limited success, but told me to keep practicing and that she would soon catch on.

Day three was when everything changed. Since Maggie had been so mellow the day before, my husband Chris left the hospital to run some errands. The nurse came in to take Maggie so I could shower and eat. She commented on how Maggie felt a little cold, but did not express any concern. The morning came and went. I finally called the desk to remind them that it was time to feed the baby, and they told me she had been taken to the NICU. I dropped the phone and started down the hallway as fast as I could go. My cell phone was in my pocket, and I called Chris to tell him that when he finished with what he was doing he needed to come on back to the hospital. What he heard was hysterical crying and gulping with no intelligible words at all.

At first they thought she might have some kind of infection. A close friend who happens to be a pediatrician called me often so she could help interpret the tests they were doing. It sounded routine. I kept thinking that anytime Maggie would start to improve, and we could take her home. But she wasn’t responding to the treatment. Her temperature was too low, she wouldn’t eat and wouldn’t stay awake. We watched our cherub-like angel shrivel into a little grey sickly looking baby, and there wasn’t anything anyone could do about it. Based on some of the testing, the neonatal pediatrician began to suspect that Maggie was suffering from some sort of metabolic disorder and recommended we move her to Children’s Medical Center. She had been so kind and caring with us, I could hardly believe she was the same woman I heard barking to someone on the phone about rushing Maggie’s newborn screening results.

The next couple days were a blur as we waited on the newborn screening results. Endless experts and specialists flowed through the hospital room offering opinions and explanations. Wonderful nurses offered comfort. I lost more than 20 lbs while I watched Maggie waste away. We couldn’t hold her because of the IV in her belly button, but we stayed with her in the room when allowed and slept in the visitors’ area when the doctors were with her. When the newborn screening results came back, the attending physician met with us and explained the diagnosis. He told us Maggie had a rare genetic disease called Isovaleric Acidemia and explained how the disease prevented her from processing leucine protein. The disease is very manageable and, once treatment started, Maggie began to improve immediately. When she cried, the nurse tried to shush her, but it was music to my ears since she previously had been too weak to cry.

She came home July 11 and, as of today, she continues to thrive. Her disease is managed by a strict diet that allows a limited amount of leucine protein. She shows absolutely none of the negative side effects many children suffer when they go into metabolic crisis.

Maggie is almost 7 months old now and growing like crazy. At her six-month, well-baby visit, she was in the 80th percentile for height and weight. She is a very happy baby and loves interacting with people.

Here’s an adorable video of Maggie doing her favorite thing — jumping!

While most babies would have started solid food already, IVA babies start solids a little later. We go in for lab work every week so they can monitor her leucine levels. She has had plain rice cereal a couple of times, but we have to wait to hear what our doctor has to say about the latest lab results before she can try anything else. The biggest challenge so far has been educating our family! Maggie is a seventh generation Texas princess. We Texans like our BBQ so our family is having a hard time understanding that Maggie can’t have things like that.

Despite having to do things a bit differently from other babies, Maggie is in excellent health and that can be credited 100% to the newborn screening that allowed for early treatment.  We are eternally grateful for every day we have with our baby girl.

 

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What We’re Reading This Week

Mar 01 2012 :: Published in What We're Reading

  • The secret (and amazing) world of public health laboratories – Kim Krisberg took a tour of the Texas state public health lab.  Her takeaway: public health labs are “seriously cool.”  We happen to agree.  Her post gives a terrific glimpse into a public health lab.  This is definitely a must-read!
  • US disease agency in fiscal peril – The current federal budget situation is pretty grim across the board.  This article does a great job explaining the budgetary woes with regard to CDC.  Scott Becker, APHL’s executive director, likes to use the term “train wreck” to describe it (the budgetary situation, not the article).
  • New Facebook Feature Lets You Mark Yourself as ‘Safe’ After Major Disaster – After a disaster it can be hard to reach loved ones by phone or email to see if they’re ok.  So now there is this app on Facebook that helps with that situation.  Both cool and practical!
  • FIRST Lego League examines foodborne illnesses – File this under my favorite category: Awesome things that awesome kids are doing to make their world healthier.  Teams of fourth through eighth graders in Iowa designed and built robots out of Legos and then wrote computer programs to solve problems with food safety in the food chain.  I believe Whitney Houston had it right when she sang, “I believe the children are our future laboratorians…” Ok, so maybe I added the “laboratorian” part.

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A Story of Life, Loss, and Advocacy

Nov 07 2011 :: Published in Newborn Screening and Genetics

By Jennifer Garcia

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My name is Jennifer Garcia, and my husband John and I would like you to meet our two sons, Gavin who is 5, and Cameron who is forever 9 months old. You see, Cameron passed away from complications of an identifiable and treatable disorder known as Severe Combined Immunodeficiency or SCID on March 30, 2011; the day he turned 9 months old.

Cameron was born on June 30, 2010 in Texas. He underwent state newborn screening, and was discharged from the hospital as a “normal newborn.” Little did we know that our state does not screen their newborns for SCID.

Brothers

Cameron’s older brother 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, and was usually in the 90% in both height and weight. At times he even exceeded his brother at the same ages. 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.

Hospitals

After a week at our local hospital being treated for pneumonia and with only minimal improvements, we were transferred to Houston, Texas which is considered to be a major medical center. Even though our pediatrician had transferred us, we were all still optimistic and thought it just a tough case of pneumonia we were dealing with. We were so confident that things would be fine, John stayed behind with Gavin while I followed Cameron. No one could have ever imagined what was in store for us once we arrived in Houston. Within 4 hours of arriving at the hospital in Houston, Cameron was intubated and put into a coma to protect his little mind from what was thought to be seizures. These seizures appeared to have begun in the ambulance during the one and a half hour ride from College Station to Houston. I felt helpless as doctors tried to figure out what was going on with Cameron, and we transferred from room to room as well as continued to be bumped up in level of care. It was after 1 AM before Cameron was admitted into the PICU and intubated. I sat alone in the waiting room in the middle of the night for hours waiting to see him and wondering: what just happened? What was going on with my baby boy? And wanting to hold him knowing that he must be terrified. Truth is, 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.

As a family we waited anxiously by his bedside as Cameron remained in a coma and endured many tests to try and figure out what was happening to his little body: CAT scans, MRIs, EEGs, spinal taps, blood transfusions and massive doses of anti-seizures, anti-bacterials, anti-virals, and anti-fungals, just to list a few. Eight teams worked on him daily: Critical Care, Pediatrics, Neurology, Epileptology, Toxicology, Immunology and Infectious Disease plus Respiratory Therapists.

Ten days after arriving at a major medical center Cameron was diagnosed with X-link SCID.  It was March 13, 2011 and Cameron was 8 months old.

SCID

The diagnosis of SCID brought great confusion to John and me. What was SCID? Why had we never heard of this before? After all, I had done all the prenatal testing as well as the newborn screening. Wasn’t that all I needed to do? I knew there were no other cases of SCID in either of our families’ medical history. What I didn’t know was most cases of SCID have no previous family history.

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Immediately we began to research SCID for ourselves in addition to the information that our doctors were sharing with us. What was it? And what were our options? This is when we found out that if SCID is identified in the first months of life, such as through newborn screening, and before severe infections occur, most infants are successfully treated by a bone marrow transplant. If SCID is not diagnosed before infections, survival rates drop dramatically. Unfortunately for Cameron, he was not diagnosed as a newborn and each day that passed his chances at survival were diminishing. Although chances were slim, we had his superhero brother, Gavin, tested to see if he could possibly be a bone marrow match for Cameron. Luckily, Gavin was blessed to have been born free of this deadly condition. Four grueling weeks of treatment went by as we waited and hoped Cameron would recover enough for a bone marrow transplant. As much as we did not want to accept it, Cameron was unable to fight off the deadly pneumonia that had taken hold of his little body and crippled his little mind. After all the weeks of intense treatment and prayers we were informed that we needed to say goodbye to our baby boy and let him go. On March 30, 2011, the day he turned 9 months old, we finally got to hold Cameron in our arms as he slipped away from us.

After his death we requested Cameron’s newborn bloodspot, which luckily we opted to have stored, be screened for SCID in a small pilot program that had begun in October 2010. We were informed that Cameron did test positive for SCID at birth after his newborn blood spots were screened. We found out 9 months too late for our Cameron.

With SCID newborn screening, Cameron’s life and our lives would have been much different. The night we left the hospital without Cameron I dedicated myself to doing what is in my power to educate and advocate for newborn screening. Since that time I have become a volunteer educator for the SCID pilot study in Texas as well as an advocate and supporter of the Save Babies Through Screening Foundation. Education about newborn screening is something that I will continue to passionately help others with in Cameron’s memory.

Does your state’s newborn screening panel include SCID? Find out here

 

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