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maggie1Written by Angel Mom, Sarah

Maggie, our July Angel for 2009, has an important story! Her condition, Isovaleric Acidemia, also known as IVA, was detected at birth with newborn screening.Since that time, Maggie has had a great quality of life and no hospital visits! That is exceptional and represents the importance of comprehensive newborn screening for all newborns,and the wonderful care of her Mother and Father. Below, find Maggie’s story shared by her Mother, Kamala, as first presented to the BBAF Forum, along with a few follow-up questions since it was submitted:

“It’s odd to think that our 16-month old daughter already has a story to tell. Her life has only just begun, but what a whirlwind it has been. As a mother of three other children, I thought I had experienced just about everything. That was until the day we received a phone call from our pediatrician when Maggie was only 5 days old.Her Newborn Screening had come back with an abnormal result for Isovaleric Acidemia, or IVA. Our pediatrician struggled to explain the disorder, he had never heard of it.

 

My husband and I immediately started to look for any information we could find online.What we found was frightening. How could our seemingly healthy child have this rare disorder? We convinced ourselves that the result must have been a false positive. We had three healthy children,and Maggie wasn’t showing many of the symptoms listed. She was sleeping I felt more than the other three did at that age.She also didn’t seem to like the formula I was supplementing with while nursing.However, she had only lost an ounce since birth, and when she was awake she was very alert. I was convinced these were just normal newborn issues.

maggie2The very same day we were contacted by the Metabolic Section of our local Children’s Hospital.They wanted us to bring Maggie in right away.I remember being so nervous as we drove to Children’s. What if she did have this rare disorder?What would she have to endure, and what would her quality of life be? So many things were rushing through my mind.

When we arrived we were greeted by one of their Genetic Counselors. He spent some time with us asking questions about Maggie, and our family’s medical history. He also gave us some general information about IVA. It was all very overwhelming.Then my husband asked the question that was on both of our minds. What was the possibility of a false positive. His answer, “less than two percent”. I couldn’t hold back my tears any longer.

Maggie’s diagnosis was confirmed the next day with a blood and urine sample that Children’s had taken. I’m happy to report that to date, Maggie has not required any hospital stays. She’s on a protein restricted diet, and a Glycine supplement. She is growing and developing normally. I attribute all of this to Expanded Newborn Screening. I often wish I could shake the hand of everyone who has made ENBS possible, and offer them my sincerest gratitude. Without them Maggie’s story could have been very different.

maggie3How has Maggie been doing since you posted her story?

Maggie still has been able to avoid a hospital stay.She did have the flu about a little over a month ago. However, she was able to fight it at home.I really don’t know that I do anything any differently than any other parent who has a child with a metabolic disorder. I try to avoid taking her out as much as possible during the cold and flu season. I run my errands when my husband gets home from work. If I do have to take her out, I try and keep her away from as many people as possible.Not always easy to do especially when well meaning people just want to make over your baby!I make sure her older sisters wash their hands constantly. Other than that I have to attribute the rest to Maggie and her immune system. We feel so blessed to have her in our lives. She reminds us everyday what a gift life really is.

What have you begun to appreciate since learning about Maggie’s condition and NBS- that maybe you didn’t before?

We had no idea about the extent of Newborn Screening before Maggie’s diagnosis. We had never heard of metabolic disorders. We were surprised to learn that all 3 of our oldest children had been screened at birth for IVA and several other disorders. Our oldest was born in 2000, at that time it was at the discretion of the individual hospital what to screen for. We are so thankful for ENBS as we feel that it has made all the difference for Maggie.

Have you met other IVA families and whathave you learned from them?

We have met several IVA families. They have been such a wonderful support system. It’s so nice to know that you’re not alone in this. If we ever have a question or concern they are willing to help in anyway they can.

What advice would you give to families expecting a new baby? What do you wish could have been said to you earlier in Maggie’s diagnosis?

Anyone expecting a new baby, I would say demand ENBS. What you learn could save your child’s life. I wish that we would have been more informed about ENBS. I feel it is important for those in the Obstetric and Pediatric fields of medicine to be more informed about these disorders.”

Thank you Kamala for your bright and positive perspective! We’re excited to have Maggie as a BBAF Angel!

Keep enjoying your summer!

Sarah
Honorary Den Angel Mother