Sarah Grace’s Story

It was just before Thanksgiving in 2005 when we discovered I was pregnant with our third child. We were both shocked and excited. Our daughters, Kaitlyn, 5 and Hope, 2, were very excited about becoming big sisters. My pregnancy was pretty normal and we were gearing up for a late June/early July birth. When there was no baby by my due date, we scheduled an induction for July 6(we thought she would come before I was induced, after all, my other two were born within 1 day of their due date).
She didn’t come on her own and on July 6, 2006 we went to the Hospital to have a baby by induction. Sarah Grace was born at 6:15pm, weighing 8lbs, 3oz. A beautiful brunette (we were used to redheads) who was perfect in every way. She scored an 8 and 9 on her apgar. She latched on and fed 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 easily settled into a nice routine. Sarah loved to eat and sleep. Her sister’s loved helping with diaper changes and holding their baby sister. 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 GA 1 or Glutaric Aciduria Type 1. She explained the need for further testing to confirm the diagnosis and made it very clear that this was something very serious. She then contacted our pediatrician. We waited the rest of the afternoon for him to call us. Hours of worry over our wonderful Sarah Grace and wonder about the next step filled our mind and our hearts. The pediatrician finally called and said he had scheduled an appointment for us at Johns Hopkins for the very next day. A nurse from Johns Hopkins also called to confirm the appointment. Our minds were overwhelmed with anxiety.
We arrived at Johns 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 GA 1. 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 because Sarah showed no signs of the condition. She did not have a large head, nor did she have any suspicious body movements.
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 GA 1. The tears came. What did this mean? What was going 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 swimming in my head, they sent my husband to the pharmacy to get the prescriptions filled. The doctors and nurse left to consult other doctors and I was left alone with Sarah Grace and a box of tissues in the examine room. I sat and wept and prayed.
When we left the hospital that day, I began a prayer 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 l-carnitine, bicitra, riboflavin and singulair. We visit her doctor at Johns Hopkins at least 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 definitely wrong. I rushed her to the local hospital. Because they did not understand this rare disease, they were very slow with her treatment, even though I had an emergency letter. When I finally convinced the nurse to call Johns Hopkins instead of waiting for the ER doctor, they finally understood the severity of the situation. 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 Johns Hopkins.
This was the first of 5 hospital stays for Sarah Grace, but thankfully her only crisis to date. In December she had a second stay because she was not feeling well. In January she stayed (another ambulance ride) because she was not eating or eliminating. With this stay she was stuck nearly 20 times by the nurses and doctors at 2 hospitals trying to get an iv started and blood tests. She has always had been a difficult stick, as they say, so in February 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 bleak.
We have many question and very few answers when it comes to Sarah and her condition. What will the future bring? Will we be able to keep her from having another crisis and doing further brain damage? What is the full extent of her current brain damage? Will she walk? Will she talk? The list goes on and the only answer is that time will tell. And the only thing to sustain us is the knowledge that God is in control.