Glutaric Acidemia/Aciduria Type 1

Let me begin by telling you, it truly is in your best interests to NOT google this disorder. I have spent the last 4 months researching as much as possible, and I will tell you the first 3 weeks of research I read some scary and mentally/emotionally draining stories and research. Glutaric acidemia type 1 (GA1) is a rare metabolic disorder that is inherited when both parents are carriers for the disorder and pass on mutated genes to their offspring. In a relationship where each parent is a carrier, each child has a 25% chance of inheriting the disorder. GA1 patients are unable to properly break down Lysine and Tryptophan (found in protein) properly. GA1 patients are on a low lysine diet, L-Carnitine and Riboflavin supplements. Because of the inability to properly breakdown these amino acids, GA1 patients have a build up of them in their blood and urine that can cause bleeding of the brain. Following the diet is only part of the battle with this disorder. Any fever, cold, stomach bug or infection can cause catastrophic events. If sickness occurs and is not quickly caught and the patient not quickly given IV fluids and tube feedings, bleeding of the brain, stroke and seizure can and will happen. Prevention and early diagnosis of sickness is the BEST way to prevent irreversible neurological and muscular damage. Most patients that experience a "metabolic crisis" lose their ability to eat independently and develop muscular spasms and rigidity. Before 2007 in the State of Texas GA1 was not a part of the newborn screener test. Before this disorder was caught early parents were not given the chance to protect their child from becoming affected. Although we firmly believe at this time that Jackson is a carrier for this disease, I felt the need to educate others. This disorder is scary and is why we chose to keep Jackson away from the general public for his first few months. The risk of him catching even the simplest cold could have devastating affects on our family.

Parenting Hell.... and back again

Matt and I have cherished being parents. Jackson truly is a joy to watch grow and change everyday. However, there has been a dark cloud hanging over us since he was 1 week old. I am choosing to share our story today... Jackson Matthew Whigham was born via c-section at 2:29 pm on March 21, 2014. He weighed 6 pounds 12.9 ounces and was 17 3/4 inches long. He was perfect, even though he was 3 weeks early. Both sets of grandparents were able to share in our excitement as Matt went out to the waiting room and FINALLY announced, IT'S A BOY!! At 3 days old we took Jackson home, healthy and thriving. On March 28, 2014 when J was 1 week old I was called by the pediatrician, something had come back on his newborn screener. We had an appointment to talk with the doctor at 1:30. Dr. Maaytah told us she had never had a newborn screener come back abnormal for this disorder, she really thought it was only a false positive. We needed to collect a urine sample from J and after that was complete we would go to the lab to get a blood sample. After 3 1/2 hours we FINALLY catheterized Jackson to get the needed urine (who knew how hard it would be to get a newborn to pee on demand!) and headed to the hospital lab to get his blood collected. We were then told to wait for results. On Tuesday April 8th I was given the phone call that shook our little world. The urine and blood had come back as "abnormal" we would be contacted by a specialist out of Ft. Worth by the end of the day to make J an appointment with them. Matt was at work at the time, I sobbed, and waited for him to come home. When he got here I explained what I knew and we began discussing how we wished that they would just let us go tomorrow to see this doctor, we wanted/needed answers...NOW! That afternoon Cook Children's Metabolic office called, they had just had a cancellation for tomorrow and wanted to see if we would be able to drive the 6 hours to make it. We quickly said yes. That night I prepared, as best I could, to take our 2 week old half way across the state. We woke up at 5:00 am fed Jackson and were on our way to Ft. Worth. We were extremely blessed to have my parents and best friend meet us at the doctors office for moral support. We checked in for our 2:30 appointment. Before seeing the doctor, Matt and I were led into a conference room for some genetic counseling and family history. The first question they asked, "Had Jackson had a seizure?" I quickly replied no. We were then taken, with my parents, back to meet Dr. Crawford, Jackson's Metabolic Geneticist. She began with "This is a rough diagnosis." Not what we wanted to hear. She proceed to educate us on the disorder, Glutaric Acidemia/Aciduria Type 1. We were told that Jackson was literally .01 away from numerous markers being in the "normal" range. We were instructed to continue our lives as normal until told otherwise. Jackson would only need to begin taking a L-Carnitine supplement 2x a day. We repeated the blood and urine labs and left with some questions answered and so many more to ask. We were told to expect results in 10 days. We were educated at the doctor's appointment that there is not just a black and white way to diagnosis this disorder. Only 7 patients had been treated at this metabolic office by either doctor in the practice. It is extremely rare and until 2007 was not caught by the newborn screener in Texas. Parents before 2007 were not given the chance to prevent their child from being affected, they were not aware there was anything wrong until it was too late. I waited, and I waited. 10 days, 10 business days, finally 14 business days had passed and NO ONE had called with our results. I called them. They had his blood results but his urine was going to take an additional 10 business days....so frustrating. A few days later we were told that Jackson's blood, urine and repeat newborn screener were ALL in the "normal" range!! What great news. Yet Dr. Crawford did not feel like we could clear him just yet. She wanted us to submit Jackson's DNA and sequence it to see if he was 1. not affected by GA1 2. a carrier for GA1 or 3. affected by GA1. We had submitted to our insurance approval for the DNA test at our appointment, it took them 4 weeks to deny our claim. Dr. Crawford had an idea to re-submit our claim using a different lab. We did this and continued to wait. We FINALLY received approval on Tuesday June 3rd, when J was 10 weeks old. I took him to the hospital lab the next day and submitted a blood sample for DNA analysis. Again the waiting game. Monday July 14th, his DNA results were back in. He appeared to only be a carrier for GA1, however LIKE BEFORE, Dr. Crawford did not feel comfortable releasing him from her practice. She wanted to have Jackson have an MRI done to look at his brain and verify that it did not show any of the classic signs and symptoms of GA1. So that is where we are. Once again awaiting approval from insurance to have the MRI done. We will travel to Cook Children's hospital and Jackson will be admitted overnight to have IV fluids given before the MRI.