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Allison Upchurch PDF Print E-mail

Our family has been very fortunate and I thank God every day. I have no idea where we would be today without NeoGen and their newborn screening test. During the last year my step mother was fighting the battle of leukemia and my husband and I decided to save our babies cord blood for future use for her or my husband or children later down the road. So we researched and decided to go with cord blood registry. We were VERY THANKFUL that the newborn screening test was included in our cord blood kit. We have never heard the new "tandem mass spectrometry" (MS/MS).

My pregnancy and labor went very well. Alli came two days early with a big amile 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 we decided let's do it. Northside Hospital would not do the test for us, they said they were only allowed to do the PKU test. So on our first visit to the pediatrician, 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 GA1. GA1 is an inheritied disorder of amino acid metabolism. Which 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 the genetic disorder so he referred us to Dr. Blackstone and Dr. Elsas at Emory University. They immediately ordered a blood sample and a urine sample. Both test came back positive for GA1. So, next they took a skin sample to verify that the test results were not false positives. 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 GA1 which I think made us even more worried about Alli's future.

Looking at Alli you would never know there was any type of problem she acted and looked just like an other 3 1/2 week old baby. Not knowing how Alli's body is going to react under certain ullnesses and not having the knowledge of how to help our Alli under this crisis is very frightening. After waiting about 3 months for the skin results, we had a positive result for GA1.

Alli is now eight months old. She is so adorable. She smiles and laughs all the time. She is also starting to crawl. She weighs 18lbs and is about 27 in. long My husband and I are a lot more at ease. We have talked to several doctors who have GA1 pateints that were diagnosed by the expanded newborn screening test. They have excellent results and their patients are living a normal life. Our child's life depends on the special formula and special protein-free foods available. Wehave complete confidence with Dr. Singh at Emory University to help monitor Alli's diet. We have an emergency plan available if needed. Without the proper nutrition Alli would not have a normal life. 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 your or someone you know please give us a call (770-449-8668) or email us as This e-mail address is being protected from spambots. You need JavaScript enabled to view it

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