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Gluatric Acidemia, Type 1

Cheyenne was born on August 31, 2005. She is now 3 ½ years old and growing every day! Her story is like so many others with Glutaric Acidemia Type I that I have read through OAA. She started off healthy, but we had very limited newborn screening in Alabama at the time of her birth. She spent much of the first 2 ½ years of her life in & out of the hospital for circumstances ranging from minor colds to severe seizures and vitamin/mineral deficiencies. She has undergone 4 surgeries and is expected to have another one soon. Her first was at 5 weeks for a g-tube. She has since had 2 depo-ports and a Broviac. Her depo-port has stopped giving a blood return (although we can still use it to give fluids & meds while in the hospital) so we are looking at getting that replaced soon.

Cheyenne’s medications include Carnitine, Lamictal (for seizures), Panthothenic Acid, Riboflavin, CoEnzyme Q10, an Iron supplement and Flintstones multivitamins. Her diet consists of 14 grams of Protein per day, 99 grams of ProPhree and 15 grams of Glutarex-2. She is exactly 3 feet tall and weighs 34 pounds. She has short blonde hair and the bluest eyes you have ever seen! She has a crooked little smile and an infectious giggle.

Cheyenne started talking around 10 months (simple words like mama, dada, dog), but a seizure at 13 months caused her to digress. She now only says about 5 understandable words (mama, dada, bubba for brother, bye bye, night night). She attends the Chilton County Preschool Program—P.A.L.S. She is in an inclusion classroom and goes 2 days a week. We combine this schooling with 2 hours per week of speech therapy at the University of Montevallo. Although she is non-verbal, she is a very bright girl! She started “school” just after she turned 3 years old. At that time, they tested her verbal & non-verbal capabilities. She, as we suspected, scored in the 6-9month old range for verbal abilities; but her non-verbal score put her at the level of a 4 year old! She continues to learn more & more everyday. She’s hungry for knowledge. She knows all of her basic colors, how to pick out what she wants for dinner, how to show you how old she is, how to get dressed by herself and, to the doctor’s surprise, has been completely potty trained since just before she turned 3. I am so very proud of her!

Overall, Cheyenne is doing very well. I’m glad I haven’t had much to report! She went an entire year without a hospital visit due to her GA-1 (she did break her leg in October climbing on the lawnmower). Her doctors are very impressed with her accomplishments and unbelievable feats. She has beaten the odds and continued to grow, mature & develop into a vivacious, confident, precious, smart, beautiful 3 year old little girl whose hero is her big brother, Cody.

Birmingham AL

Cheyenne Posey, Age 10 months

Hi Y’all! A little southern greeting to start our story! My name is Lacy Posey. My husband, Shannon, and I have 2 children, Cody and Cheyenne. Cody was born on December 15, 2002. Although we are facing the “extremely picky eater” phase, he is a happy, healthy, rambunctious 3 year old boy unaffected by any metabolic disorders. Cheyenne was born on August 31, 2005. She has Glutaric Acidemia Type I (GA-1).

My pregnancy with Cheyenne was perfect. I gained 30 pounds, ate fairly healthy and stayed active. We opted out of the prenatal screenings because we didn’t care if she had any type of disorders or syndromes; that wasn’t going to change our minds about the pregnancy. No one in our families had ever exhibited any signs of genetic disorders before. Besides, no one ever thinks that it will happen to them. We weren’t informed of exactly what tests are done on delivery or the option of having more done. I don’t know that even with that information we would have done the screenings because of the lack of family history. We now realize how important it is to get the word out about the availability of these tests and how crucial they can be to your baby’s health.

 My delivery was induced because I was 2 days past my due date. When I arrived at the hospital at 6:30 am I had begun labor, so it was more of a help-along rather than an induction. The delivery lasted less than ½ an inning (the TV was on ESPN). Cheyenne Grace was born at 1:03 pm weighing in at a healthy 7 pounds 11 ounces and 20.5 inches. She was so perfect! Our well baby stay was uneventful. We were released after 48 hours.

I took Cheyenne by my & my husband’s offices on the way home. Then we went to our new house (we had only moved in 5 days before she was born) to see her brother and grandparents. About an hour after arriving home, Cheyenne was hungry. I got my new rocking chair, Boppie and blanket all ready in her new room to nurse. She wouldn’t latch on right away so I waited a couple of seconds and tried again. The lights were off, so I couldn’t see very well. Shannon came in to check on us and when he opened the door and the lights from the hallway landed on us, I could see that Cheyenne was blue. I handed her to Shannon immediately. He tried talking to her and moving her around to get her to breathe. When that didn’t work, he began rescue breathing. I was on the phone with the paramedics. Cheyenne began breathing again, but soon had another apnea episode. When the paramedics arrived she was back to normal. Their devices are not made for 2 day old infants, so they suggested that we take her back to the hospital for a complete evaluation. We left for the hospital—thankfully only 10 minutes away. I want everyone to know that during all of this, my son was amazing. He wanted to know what was wrong with his sister and why “those men” were there. He has gone through just as much emotional strain as we have and he is an incredible big brother!

At the hospital, I asked for the pediatrician on call and the nurses immediately took Cheyenne to the NICU and us to a room. I was crying by this point. I had no idea what was going to be done. I thought we had just gone in to talk to the doctor and go home. I didn’t realize the seriousness of the situation. The NICU RN asked us lots of questions about the events at home, pregnancy, delivery and well baby stay. I was so rattled! A few minutes later she came back in and asked to sign a consent form for all kinds of test. We agreed.
I went home to be with Cody while Shannon stayed at the hospital. I came back a couple of hours later. The first time that I got to see her, they had started an IV in her head and she was in an NICU bed under the lamp without anything on except a diaper. The doctors didn’t want to take any chances of there being an infection before the test results came back, so they started antibiotics for a brain infection as well as anti-seizure medications. Her small veins had a difficult time tolerating the IV lines for more than 24 hours. Shannon and I stayed at the hospital continuously. They were gracious enough to let us stay in an unoccupied room only 2 doors down from the NICU. It didn’t have a shower, but we would take turns going home to clean up and spend as much time as possible with Cody. Cheyenne had 5 more episodes during the first 24 hours in the NICU. After beginning the anti-seizure medication, they stopped. As for feeding, I continued to breastfeed the entire time she was in NICU. She seemed happy and healthy…especially compared to the infants around her. She was by far the biggest one in there! On day four the doctor ordered CT, MRI and EEG. The EEG was normal, but the CT and MRI showed bleeding and excessive fluid in her head. Thank God that we had a doctor that was educated enough to order a full battery of tests, including metabolic. I have heard so many of your stories about doctors that didn’t even know a metabolic condition was in the realm of possibilities. We were released on September 8, 2005 after 6 days. Still no answers, but seizures were the best diagnosis and the nurse said that we would be receiving test results over the next 2 to 30 days.
On September 13, 2005 around 6 pm, we got the call. I knew it was strange for our pediatrician to call us and especially that late, but he had always been great so I just shook it off and answered the phone. He said that one of the tests had come back abnormal. He told me (of course my husband and son were out getting dinner!) that Cheyenne had Glutaric Acidemia Type I. He told me all about what he had researched, but urged that I not look it up until we see a specialist. I agreed. The only metabolic doctor in Alabama happens to practice near us. She called that night and scheduled us to come in for a 2 day admission to have more tests run, teach us about the disorder and start her diet. I thought “This is nothing…no meat, no problem! Wow, was I wrong! I don’t think it ever really hit me until we got home and I began to read through all of the pamphlets and books we had been given. We had to switch to Similac (my breastfeeding was out the window…I cried), Glutarex-1 began being shipped and the talk of G-Tube surgery began. Our metabolic doctor still does not believe the apnea seizures are related to Cheyenne’s GA-1, so we are blessed to have found this disorder.
Cheyenne has only had 1 admission for metabolic issues. She was vomiting (not extensively), but our doctor wants to be overly cautious because she thinks that Cheyenne’s condition was caught before any major damage was done. We had the G-Tube placed soon after this admission when she was only 6 weeks old. She eats so well by mouth. During one of our check ups, our doctor recommended physical therapy (PT) services to keep her on track. We are provided these through Early Intervention. Our PT has stated that Cheyenne’s movements are erratic but not excessive. She also has been right on schedule with her cognitive, social and emotional skills, and her motor skills were only slightly delayed…but she has made up for that already!! She only comes out to our house once a month and it is mainly for monitoring purposes; she will come more often if the need arises. Since the initial PT visits, Cheyenne has not shown any more signs of a movement disorder… YEAH!!
Cheyenne began solid foods on schedule with infant cereal and now eats just about every vegetable, fruits and even spaghetti! She loves food! As for medication, she is on carnitine, riboflavin, zantac, pantothenic acid and co-enzyme Q10. She is allowed 6.5 grams of protein per day (soon to increase to about 10 when she is a year old). We only use her g-tube to feed her once a day for medicine and to keep her & us used to using it. Our doctors are so impressed that she eats so well by mouth! She weighs almost 21 pounds and is 31+ inches tall with big blue eyes and the blondest hair—like a little angel.
Overall Cheyenne’s development has been typical. She smiles, laughs, plays and loves so much! She adores Cody and he is very protective of her. I believe that they are best friends. The dogs, Chloe & Chyna, are even in on the action and she loves to play with them. She just got her first pair of shoes and will be walking any day now! I am thankful that we do not have any major medical, financial or emotional difficulties. My husband and I both work full time. I work for the Shelby County School System in the Special Education Department and he is in the building industry. My parents, sister and in-laws take turns keeping the children during the week so we have a wonderful support system. We all wear the NBS bracelets. Every time someone asks, we are eager to tell our story. We are blessed to have Cheyenne’s condition caught even without NBS and so early in life. With the tools to manage her disorder, we feel that we are already ahead of the game. As she continues to meet her milestones, we continue to be cautiously optimistic and enjoy every day we have with each other and our wonderful, beautiful children!
Thank you for listening and all of your feedback from the list serve. This support has been enlightening, heartfelt and appreciated!
Lacy & Shannon
Montevallo, AL

From the Summer 2009 OAA Newsletter

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