ALLI

This is a personal story shared by a family whose child has GA-I.

Our family has been very fortunate and I thank God every day. I have no idea where we would be today without Pediatrix (formerly known as NeoGen Screening) and their newborn screening test. When my stepmother was fighting her battle with leukemia, my husband and I decided to save our baby's cord blood for future use for her, or for my husband or children later down the road. We researched and decided to go with a cord blood registry. We were very thankful that the newborn screening test was included as part of the testing done on cord blood submitted in our cord blood kit. We had never heard of the new "tandem mass spectrometry" (MS/MS) testing. My pregnancy and labor went very well. Alli came 2 days early with a big smile and is the perfect baby. I never thought about anything going wrong especially since our first child was healthy. Since the expanded newborn screening packet was free of charge with the cord blood storage program, we decided let's do it, why not? Northside Hospital, where she was born, would not do the test for us; they said they were only allowed to do the state newborn screening test. So on our first visit to the pediatrician when she was one week old, they pricked Alli's heal and we mailed off her test, not ever expecting to hear anything back. But within two days, we had the results. She had tested positive for glutaric academia, Type 1. Glutaric academia, Type 1 is an inherited disorder of amino acid metabolism. This diagnosis means our child cannot use the amino acids lysine and tryptophan in a normal way. A special diet is the only treatment. Our pediatrician had no knowledge of this genetic disorder so he referred us to Dr. Fernoff at Emory University. They immediately ordered a blood sample and a urine sample. Both tests came back positive for glutaric academia, Type 1. They used skin biopsy test to confirm these results. Dr. Singh (our nutritionist) started Alli on a special diet immediately; Alli was 3 1/2 weeks old. Leaving the doctors office in tears and not having a cure for your child is an unexplainable feeling. My husband and I started looking on the Internet to research and to find out as much information as we could about glutaric acidemia, Type 1, which I think made us even more worried about Alli's future.

If you looked at Alli, you would never know there was any problem; she acted and looked just like any other 3 1/2 week old baby. Now, given her diagnosis. not knowing how Alli's will react to certain illnesses and not knowing how to help our Alli during a potentially critical illness is very frightening. After waiting about 3 months for the skin results, we had confirmation of her dianogsis of glutaric academia, Type 1. Alli is now 27 months old. She is so adorable. She smiles and laughs all the time. She weighs about 25 lbs. and is about 31 inches tall. My husband and I are a lot more at ease. We have a speech therapist and physical therapist who help Alli, and she is doing wonderfully. We have talked to several other doctors who have GA-1 patients who were diagnosed by the expanded newborn screening test. These patients are living normal lives. Our child's life depends on the special formulas and special protein-free foods available. We have complete confidence with Dr. Singh at Emory University to help monitor Alli's diet. We have an emergency plan ready if needed. We pray every night that Alli will have a normal life.

Thank you for taking the time to read about our daughter. If we can be of any assistance to you or someone you know please give us a call (770-449-8668) or email us at graysonup@comcast.net. If you have any information about GA-1 please share with us. We are always interested in learning as much as we can. Thank you.

Sincerely, Donna Upchurch Updated August 4, 2004 by Donna Upchurch Mother of Alli (GA1), born April 29, 2002

If you would like to share your own family's story, please contact us at email@savebabies.org.

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