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Sarah Grace PDF Print E-mail

Sarah Grace was born at 6:15pm, weighing 8lbs, 3 oz. A beautiful brunette (we were used to redheads) who was perfect in every way. She scored an 8 or 9 on her apgar. She latched on right away and was born with a curiosity to know everything going on around her. After 2 nights in the hospital we were thrilled to bring our precious bundle home. We thanked God for the love Sarah added to our family. When Sarah was only 6 days old we received a call from the health department. Our perfect baby wasn't as perfect as she seemed. The kind doctor on the other end of the phone was calling to inform us that through the newborn screening done in the hospital, Sarah tested positive for a rare genetic disorder called GA1. She explained the need for further testing to confirm the diagnosis and made it very clear that this was something very serious.

A nurse from John Hopkins called to confirm an appointment for the nest day. Our minds were overwhelmed with anxiety. We arrived at John Hopkins the next day for a morning appointment with a pediatric genetics doctor. They took Sarah's height, weight and head circumference. They also took a urine sample to test for GA1. After examining her and talking to us, the doctor said that we should hang around the hospital for the results. If the test came back negative, then we could go home. If the test came back positive, they would meet with us and give us all the information we would need as well as a treatment plan.

The doctor was hopeful that the test would come back negative beause Sarah showed no signs of the condition. After spending hours hanging out at the hospital, they called our cell phone. We were not going home. We went up to meet the doctors with heavy hearts. This can't be true. She's fine. The doctor, a resident, and a nurse took us into an examine room. Sarah did indeed have GA1. The tears came. What did this mean? What was doing to happen to our precious Sarah? It was explained to us that Sarah would seem normal, until she were to get sick. Not just really sick, but even a common cold/virus especially with a fever. Anything that would interrupt her eating pattern. She would need to be hospitalized for every common and uncommon ailment. Sarah lack's the enzyme needed to metabolize certain amino acids. These acids can accumulate in her brain, especially during times of sickness. This accumulation can result in a metabolic stroke. A stroke that could cause brain damage which could include physical and/or mental disabilities and in extreme cases could be fatal. Sarah would need medication and a special diet. With this information I sat and wept and prayed.

When we left the hospital that day, I began a praryer that I have yet to stop. I have always prayed for my children. But now I need God to carry me through this time in my life. Sarah is on medication daily, including I-carnitine, bicitra, riboflavin and singulair. We visit her doctor at John Hopkins atleast once a month. And I prayed that God would make it clear to me when Sarah needed medical intervention. Until she was 5 months old, Sarah grew and developed as a normal baby. Then just after Thanksgiving, Sarah woke up one day unable to hold her head up. Something was definately wrong. I rushed her to the local hospital. After 3 hours of waiting, an IV was finally begun (only after the doctor was told that the next step for Sarah could be respiratory arrest). An ambulance meant for someone else was given to Sarah and we were off to John Hopkins. In Feb. she had an IV port and a feeding tube placed. Two days after she came home from the surgery, she was back with a fever due to a viral infection. This winter has not been easy for us. I am grateful for all the people who have been praying for Sarah and our family. We know God is on our side and has a plan to make this situation work to his glory. Sarah Grace can brighten the whole room with her smile. And although we were dealt a blow when the doctor diagnosed Sarah with Cerebral Palsy, we stand firm in the faith that God will work good out of a situation that often seems bleek. And the only thing to sustain us is the knowledge that God is in control.

 
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