It doesn't have to happen to another child...

Shaun, the girls, and I visited some family members this weekend who built a house nearby. My Aunt Susan was one of the people who consistently visited Gabe and I in the hospital and was there for us in more ways than one. She happened to be there on some of the most challenging days we endured. She's a great woman.

She receives the newsletter for the Immune Deficiency Foundation... I used to get them, thought I still did, still may in fact, but did not receive this particular one. She showed me a startling article about newborn screening for SCID that manages to make me furious, sad, passionate, and hopeful all at the same time.

Many people don't realize that Gabe's "primary diagnosis" is not his ventilator dependency, or a brain injury, or respiratory failure. These were all secondary to his primary diagnosis of Severe Combined Immune Deficiency - a.k.a., The Bubble Boy Syndrome. When Gabe was born, we thought he was healthy and whole. His routine blood work was normal, he passed his hearing test, and after 3 days he went home. Up until the age of three months, we had no idea anything was wrong with him.

However, at 3 months old, he had a cold that wasn't resolving and severe projectile vomiting. I took him into the pediatric emergency room, not expecting for one second that anything more than a cold and feeding issues were to blame.{I'm sorry for all you who already know this story, for some reason tonight I'm feeling like I need to vent & get this off my chest so please bear with me as I retell Gabe's story}

They told me in the emergency room that his chest x-ray showed pneumonia. I was SHOCKED. Then he was hooked up to a pulse-oximeter (pulse-ox as I sometimes call it) to measure his oxygen levels and I remember they were in the 80's (not that that meant anything to me then) so they hooked him up to oxygen.

"He's going to have to spend the night here tonight in the pediatric intensive care unit," they told me. I cried; it was Christmas Eve. No dinner with the family, no stuffing stockings, no Christmas morning with the rest of my family?! Gabe would end up spending Christmas, New Years, Valentine's Day, St. Patrick's Day, Easter, Memorial Day, and Fourth of July in the hospital without his family. :(  Or, at least without all of us. Together.

After a week at Shady Grove Hospital, his pneumonia wasn't getting better, his chest x-rays weren't getting better, and his oxygen requirement was still above 0.5 liters. The head pulmonologist wanted him transferred to a speciality hospital.

We had the choice of University of MD, Johns Hopkins, or Children's....

In hind-sight, all the "What if's?" start.

What if we'd chosen Johns Hopkins, or UMD? Would Gabe's outcome have been different? Too bad life isn't one of those "Choose your path books"... if you don't like the way the story turns out, you can go back and change your mind and make another choice.

Children's seemed like the most logical choice at the time.

He arrived at Children's on January 5th. I remember the ambulance ride on a dark wintery Friday night. Everything within me wanted to grab the wheel of the ambulance and turn it around and head straight for our home. I had no idea what was in store.

Children's was a lot different than Shady Grove. The PICU at Shady Grove was small, it was colorful, even homey. Gabe was placed in the Respiratory Care Unit on the fourth floor at Children's. The hospital seemed so "institutional." Cold. Bare. Empty. Lonely.

I remember we must have arrived right at about shift change. We couldn't find anyone to help us. By help us I mean answer our questions. Give us some sort of peace of mind and helpful assistance. Everyone who came in wanted to ask us all the questions. I was tired of answering questions. The nurse that was assigned to us must have been going off duty. I had 101 questions for her... Shaun was chiming in, and she literally turned on her heel and walked out of the room. "I need to go," she said. And she was gone!

That made me feel much better.... once I got Gabe to sleep that night in his prison cell / crib, I cried and cried on my chair / bed.

Gabe would go on, in the following 3 months, to endure:
...a lung biopsy
...sweat test to rule out CF
...diagnosis of lymphocytic interstitial pneumonia (lymphocytes/immune cells in his lungs, presumably went to fight the infection and stayed)
...high heart rates (160's-200's)
...high respirations (60-100 on a bad day)
...panting, sweating, crying, pain
...difficulty feeding/breathing at the same time so he could no longer breast feed
...NG feedings (tube down his nose)
...pacifier shoved in his mouth to try to satisfy his suck reflex :(
...formula aspiration due to medical error
...his first code. the first scariest moment of my life.
...his first "CAT call", his first intubation (on the floor), his first PICU stay
...days on end of difficulty breathing
...vomiting. failing to thrive. losing weight.
...fevers. antibiotics.
...blood sticks. 5 am. angry baby and angry mommy
...g-tube placement. hernia repair. nissen surgery to help correct reflux.
...second "CAT call," second intubation (on the floor), second PICU stay
...full-blown cardiac arrest in the PICU. sepsis. blue. chest compressions. epi. oscillator. swollen. kidneys stopped working. miraculously peed again after about 8 days, just before they were going to do dialsysis.
...diagnosis of pulmonary hypertension. nitric oxide. sildenafil (viagra).
... diagnosis of Severe Combined Immune Deficiency. 6 months old. Critically ill. Numerous infections. lungs, heart already affected and ill.

I'll stop here for now to tell you why I wanted to give this background. This Immune Deficiency Foundation article (which I encourage you to read, it's the same one from the newsletter) states that:

"If a baby with SCID receives a bone marrow transplant in the first 3.5 months of life, the survival rate can be as high as 94 percent. However, the survival rate drops to less than 70 percent for infants who are transplanted after that age. The main causes for the drop in survival rate are serious infections babies with SCID develop prior to transplantation."

The exciting/hopeful/yet still sad and angering news is that:

"On January 21, 2010, the Advisory Committee on Heritable Disorders in Newborns and Children voted unanimously to add screening for Severe Combined Immune Deficiency or SCID - commonly known as bubble boy disease — to the core panel for universal screening of all newborns in the United States....

The Advisory Committee’s policy recommendation will now be presented to Kathleen Sebelius, Secretary of Health and Human Services. Ms. Sebelius has 180 days to consider and respond to the committee’s proposal."

I don't get that passionate about many things medical... the fighting we have to do isn't something we enjoy and I'd much rather focus my time and energy elsewhere, but this is something worth getting excited over. I feel like this doesn't have to happen to any more children. I feel funny saying this, but Gabe is one of the lucky ones. In the sense that his immune system is working. He had his transplant, it took, and now he can fight off infections. He doesn't need any infusions of immune cells anymore. He doesn't need a second transplant, thank the Lord.

Had he not experienced a severe hypoxic episode while in the hospital, he could very well be walking, talking, running, playing right now, with his fully functioning immune system.{Enter feelings of sadness and anger}. Yet we have to trust that the Lord is in control, that Gabe is in his hands, and we HAVE to focus on the many good things God has done for Gabe. He is now without immune deficiency, lung disease, heart disease, and cortisol dependency to name a few.

More than anything I don't want anyone else to have to go through the "not knowing"... the unsuspecting parents.... the sick child that no one can diagnose... the repeated infections... the risk of death.

I hope and pray that the legislation would pass for SCID to be screened on all newborns. It seems like a rare disease (I think the statistics are 1/100,000... I think but I could be wrong), but for those whose lives are affected by it, many children could be saved.

Thanks for letting me get on the soapbox tonight. Thanks for your love and support and prayers. ...


"We have already lost way too many children to this disease, and newborn screening is the only way we can put an end to the pain and suffering these children are forced to endure." ~ Heather Smith (who lost her son to SCID)