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Glutaric Acidemia, Type 1

My name is Stephanie. My husband Bruce and I are the parents of Nathan our 3 year old who has Glutaric Acidemia Type 1. Nathan was born on March 6, 2006. When I was 6 months pregnant my doctor became concerned because Nathan stopped growing, but assured us that this is common because for unknown reasons the placenta stops working. We were not concerned because I had an amniocentesis and everything was fine. I went to the hospital once a week to get non-stress tests and the baby passed every test. I had a c-section at 37 weeks, Nathan weighed 5lbs 1oz, we were so happy, he was small but everything was fine. We stayed in the hospital for 3 days and were preparing to take Nathan home when the doctor told us that Nathan’s newborn screen came back and it was not normal. He said that we would need to go directly to the University of Minnesota to meet with a specialist in metabolism and genetics, he told us that Nathan would probably just need to be on “special diet”. We were immediately discharged from the hospital. When we arrived at the University of Minnesota we met with Dr. Susan Berry. The first thing she said to us was, I’m so sorry to have to give you this terrible, terrible news. She explained to us that Nathan’s newborn screen came back and it appears that he has Glutaric Acidemia Type 1, however sometimes the test is not correct so they wanted to do some lab work to confirm the diagnosis. I was terrified as she started to explain the disease to us. Now looking back at that moment I wasn’t even listening to her, I was in shock and my entire body just went numb. I was crying harder than I have ever cried before. She assured us they would work with us and do everything they could do to try to prevent Nathan from having any negative reactions from the disease however she explained that there is no cure and no guarantees.

When we got back home the first thing I did was went on the internet and I was terrified about what I read. One week later the test came back and they confirmed the diagnosis. We were going to see Dr. Berry once a week, we met with a nutritionist we started Nathan on a special diet consisting of Glutarex 1 and Similac. They did an excellent job explaining to us how to care for Nathan. We learned that anytime Nathan gets sick with even a cold we would probably have to have him hospitalized.

The doctors suggested that if possible not to have Nathan go to a daycare due to the risk of getting sick more often. Bruce is a self employed General Contractor and I also work full-time and would not have the option of staying home with Nathan because I carry the health insurance coverage through the company that I work for. We are very fortunate to have my parents. My Mother retired about 1 year before Nathan was born and agreed to give up her retirement to watch Nathan full-time so we could work. We are very grateful to have such a wonderful support system. My Father just recently retired also. Nathan loves to go to Grandma and Grandpa’s house everyday!

Besides Nathan not being a big eater the first couple of months were fine. Then he was diagnosed with acid reflux, and tortcullis which required us to start physical therapy and he was fitted for a helmet. At 3 months of age Nathan had a couple of staring spells, we seen a neurologist and Nathan was given an EEG. The Doctor explained to us that the test was “not normal” but not abnormal” and there was nothing to worry about. At 5 months of age he began having episodes where his body would jerk forward. These occurred in clusters several times per day whenever he would wake up from sleeping. We took him back to the neurologist and had a repeat EEG which revealed hysparrhythmia consistent with infantile spasms. Nathan was immediately hospitalized for four days to begin receiving ACTH steroid injections to try to stop the seizures. He was on ACTH injections for six weeks, during this time he had and increase in appetite and weight. Unfortunately he continued to have seizures throughout the ACTH therapy. At that time Keppra was started which decreased the seizures. He was having one or two clusters of seizures per day lasting five to ten minutes. We tried a couple of other seizure medications however the seizures continued. His development was delayed, he had low muscle tone and after being on the ACTH injections his appetite decreased. We started going to physical therapy once a week and eating therapy once a week.

The seizures have been our biggest battle. Currently Nathan is doing much better. His seizures have decreased. He has currently been seizure free for 7 weeks! He is on only 1 seizure medication. His development is taking off! He is a happy 3 year old with a ton of energy. We runs and plays and is a very happy little boy. He gives hugs and kisses and loves playing with our dog Buddy and our cat. He loves listening to music and rocking with Grandma. He spends a lot of time with his Grandma and Grandpa. He gets so excited when we pull up in front of their house. He loves to go for car rides. We have a cabin that we go to on weekends in the summer and he loves to play outside. He will be starting school soon so we are very excited about that.

He isn’t talking yet, he goes to a speech therapist once a week. His Grandma and Grandpa take him to play group once a week at school so he is able to play with other kids. His eating is better, he only likes salty foods. He doesn’t like any sweets. He is behind in his development however he continues to learn new things everyday. We are so happy and blessed with the progress he is making.
Our family has been through a lot but it has made us stronger. We were able to attend the conference in Pittsburgh this past summer. We were glad we had the opportunity to meet all of the other families and hear their stories.

We have an excellent support system, between our family and the doctors and therapist we have. We are so thankful to have Dr. Susan Berry as Nathan’s metabolic doctor, she is absolutely wonderful!

Thank you for letting me share Nathan’s story with you.
Stephanie and Bruce 
South St. Paul, MN

From the Winter 2009 OAA Newsletter

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