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Propionic Acidemia – Newborn Screened!

Our family and friends were quite surprised when we told them over the Christmas Holiday 2006 that we were having a baby. We had been married 13 years and we were excited and a little anxious about having a new addition to our family. I felt terrific throughout the pregnancy. Due to my “advanced maternal age” we did chromosomal testing at about the 11th week of the pregnancy, and the test results showed that everything was fine. Kate (Kathryn Elaine) was born May 25, 2007 and weighed in at a healthy 7lbs, 3oz.

After going home, we didn’t notice anything out of the ordinary with Kate. But since she was our 1st child, we didn’t have any past experience to compare to. Kate slept more than the other babies I had heard about. But she was very alert when awake and had an interest in eating. We were concerned about Kate’s milk consumption and body weight, and we watched this closely—keeping a log of her intake in order to discuss with her pediatrician, Dr. Michael Agyepong. Kate was checked by her pediatrician when 1 week old and he noted her weight loss (about a pound). Other than her weight loss, Kate looked good. But I was still worried that something wasn’t right.

When Kate was about 11 days old, I received a call at home from her pediatrician. He explained to me that Kate’s newborn screen had come back indicating that there was a possibility of some type of problem, and that we needed to bring her in for additional testing. I knew that my gut instinct that something wasn’t right was true. We ran additional tests and were told it would take about a week for the results to come in. Kate’s pediatrician told us he had been in contact with a metabolic specialist and also gave us reading material about metabolic disorders – Propionic Acidemia and Methylmalonic Acidemia. I spent some time reading about PA and MMA on the internet also but I was getting scared and upset about everything that I read. So, I quit reading and tried to convince myself that her test result was a false positive. And we waited for the next phone call.

The phone call came at noon on Wednesday June 13, 2007. Our pediatrician said Kate’s tests were back, and yes, there was further indication of a problem. The rest of the events unfolded very quickly. Kate went through more blood tests that day and was admitted to the hospital in Wichita Falls, and then was transferred to Cook Children’s Hospital in Ft. Worth. We met with Dr. Alice Basinger and were told of Kate’s official diagnosis of Propionic Acidemia. Kate’s lab work indicated that she was headed for trouble and she was moved to ICU. Kate received her new special formula and nutrition through an NG tube and we began learning more about her special diet needs. Kate quickly showed improvement when her diet was changed and her blood ammonia started to drop from its high of 450. After 2 days in ICU, Kate was moved to a private room where we began working on bottle feeding and began increasing her daily formula intake. She was released to go home from the hospital when she was able to consume her daily calorie needs. We spent a total of 10 days in the hospital during Kate’s diagnosis.

Fast forward to now… Kate is almost 9 months old. We have been extremely fortunate as she has been stable, healthy and growing since she was released from the hospital in June 2007. We work very closely with her metabolic doctor and nutritionist. We carefully monitor her food intake. Kate has a good appetite and is a very compliant eater, and is eating solid foods in addition to her formula mix of Propimex-1 and Similac. Kate takes two doses of Levocarnitine daily. Kate is monitored by a Physical Therapist and a Child Development Specialist and we are thrilled that she is meeting all of her developmental milestones. She sits up on her own, has started to “army” crawl and has 8 teeth! Everyone who cares for Kate is very involved in monitoring her food intake and watching for any cues that may indicate that she is headed toward a metabolic crisis. With her doctor’s guidance, we have adjusted Kate’s diet and formula intake when she appeared to be getting sick, but we have been able to make these changes at home and Kate has not had the need for hospitalization.

We are thankful for so many things. We believe that Kate’s life was saved because of Newborn Screening. If Kate had not been diagnosed early, we believe that she would have decompensated and would have become deathly ill or severely impaired due to the crisis. Where we lived, we did not have access to the specialized medical care that Kate would have needed. The newborn screening was expanded in Texas about 6 months before Kate was born to include Propionic Acidemia. I am eternally grateful for the people that worked to get newborn screening expanded in Texas and throughout the US. Our home town was 3 hours away from the Children’s Hospital, so we moved to Dallas in order to be closer to specialized medical care if Kate needs it in an emergency. We have amazing support from our family and friends. My parents moved from Austin to Dallas to help with Kate’s care and Landon’s parents are in Dallas frequently to help also. Kate has a wonderful babysitter that is very attentive and caring. Our friends are especially careful about when they come around Kate and know that we can’t chance her getting a cold or virus for the impact on her can be quite severe. We have a wonderful relationship with all of Kate’s doctors and medical providers. They are truly concerned with Kate’s well-being. I am thankful for the opportunity to network with other families that have children with PA and other metabolic disorders. These parents share information, provide support and have first-hand experience managing PA and the other metabolic disorders. We hope to be a support to other families in the future. Although we don’t know what path Kate will take in the future, we are hopeful and optimistic that she will continue to be healthy. She is a very loving and happy girl, and we strive provide the best opportunities for her development and health.

Sarah and Landon

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