On Tuesday, October 05, 2010 Michigan’s Newborn Screening Advisory Board voted unanimously to add SCID to the Michigan Newborn Screening panel. Marisa was on hand to tell Jacob’s story to the Committee along with two physicians who have diagnosed and treated SCID in Michigan and the head of the Michigan Newborn Screening Lab. This is what she shared:
My son, Jacob, was born seemingly healthy on August 30, 2005. For the first 6 months of his life, he was like any other healthy baby. We were out and about regularly, he was around other children, we even went on 2 family vacations. Just before a trip, when Jacob was 6 months old, I took him to the pediatrician for a cough. His breathing was sounding “off” to me when he slept and he had a cough for a week or so. The doctor assured me it was reflux and we left for a two week trip. While away, Jacob’s breathing became more concerning. He began to wheeze and stopped wanting to eat. I went immediately back to the pediatrician when we returned to Detroit. Again, I was told Jacob had reflux and I was just worrying too much. I insisted that the doctor check Jacob’s oxygen saturation, which was at 84%. We were immediately sent to the ER and taken, by ambulance, from Providence Novi to Royal Oak Beaumont where Jacob was admitted. Initially, Jacob was diagnosed with pneumonia. After several days, the pneumonia was not improving and we were moved to the Pediatric Intensive Care Unit (PICU). After 8 days, Jacob was diagnosed with Severe Combined Immune Deficiency. We were transported, by ambulance again, to Mott Children’s Hospital at The University of Michigan. At Mott, Jacob was whisked into a reverse isolation room in the PICU. The doctors at UM confirmed that Jacob did in fact have SCIDs and PCP Pneumonia. The next few weeks were touch and go. Jacob had many very bad days. Eventually, he was put on a ventilator.
While at Mott, we began speaking with Dr. Rebecca Buckley at Duke University Medical Center, who has dedicated her career to treating babies with SCIDs. We arranged for transport to Duke. As soon as Jacob was well enough to transport, Duke sent 2 nurses and we were transported, again by ambulance to the airport and then by plane, to Duke, in North Carolina. Jacob received my bone marrow on April 11, 2006 at 7.5 months of age. We lived in North Carolina from March 2006 – August 2006, between the hospital and a rented apartment. Approximately 120 days post transplant, Dr. Buckley allowed us to return home to Michigan as long as Jacob was followed locally with weekly blood work and weight checks and remained in reverse isolation.
Jacob is one of the lucky SCID patients. Most babies who are transplanted and do not make it die from viruses contracted BEFORE transplant. Thankfully, Jacob was diagnosed within 8 days of his first illness. Most babies are hospitalized 4, 5, 6 times before an immune deficiency is even considered, unless they have an older sibling who was ill, or worse, died from SCIDs. Thankfully, I had to cancel Jacob’s 6 month well visit because we were in the hospital. Had we gone to that visit, Jacob would have received a live vaccine that could have potentially killed him. Thankfully, we lived close to Mott Children’s hospital and were able to get the needed care to save his life from the PCP and get him well enough to receive the bone marrow transplant. Thankfully, we had amazing support from our family and friends and compassionate nurses and doctors throughout our journey. Thankfully, we made it to Duke and the transplant was successful. We are so very thankful every single day for the way Jacob’s journey turned out. So many SCID babies are not so lucky. Viruses attack their bodies and they have no way to fight. If they are well enough to transplant, many still suffer lifelong affects from these viruses, or many times, the medications they were on for the first years of their lives. In other cases, they don’t live past 1 year old.
Jacob was lucky, but this is not to say his journey was an easy one. He spent 63 days straight in 3 different PICU’s, half of that time on a ventilator, had daily chest x-rays, daily blood work, a feeding tube, a pic line, a femoral line (which left an enormous scar after a serious infection in the line), surgery for a central line, a spinal tap and, of course, a bone marrow transplant. Jacob had to be isolated from the outside world until he was 18 months old. He had to re-learn how to rollover and sit up after the months of hospitalization. Eating was a struggle for many, many months after having had a feeding tube. His grandparents had to wear a mask, gloves and a gown to play with him. Thankfully, Jacob will not remember this time of his life.
Today, Jacob is an active, healthy Kindergartener. He plays tennis and soccer and is a swimmer. He receives monthly infusions of antibodies (IVIG), but otherwise takes no other medications. He has come a long way from 17 different meds per day and daily weight checks. He gets common colds, but all in all, he stays healthier than most 5 year olds. Jacob is one of the lucky ones.
I am grateful and relieved that the Secretary of Health has endorsed Newborn Screening for SCID. I truly hope that this committee will use the evidence to make the right decision. Bone Marrow Transplants done on SCID babies before they have the chance to catch any viruses are successful. Early screening saves lives and improves the quality of those lives for children born with SCID. As a parent who almost lost my child, I do not understand how anyone can put a price on a child’s life, but I do know that the cost of the screening has to be considered. Jacob’s care had far exceeded $500,000 before his first birthday. Had he been screened at birth and transplanted immediately the cost would have been significantly less. Saving a child’s life is priceless.
Thank you for allowing me to share Jacob’s journey.
In Michigan, the legislature has 30 days to oppose the vote of the Advisory Board. If they do not act, SCID Newborn Screening will become the law of the land in Michigan! Screening would actually begin October 2011. This is a wonderful victory in the fight for universal SCID Newborn Screening! Much appreciation goes to Marissa and all of the IDF volunteers striving in their own states to achieve newborn screening for SCID.
Please COMMENT below to tell us about the activities you are taking to make SCID newborn screening a reality in your own state! Comment or contact IDF through the CONTACT button at the top of the page to talk with someone about what is already happening in your state and how you can get involved.