Ethan and Family Grapple with Glutaric Acidemia Type 1

February 24, 2014

Ethan was diagnosed with Glutaric acidemia Type 1 from his Newborn Screening Panel. It is not tested for in all states or countries, but luckily for us, it is included in PA. The levels were only slightly elevated so believing it was human error that caused a false positive, they called us back to the hospital for a second round of screening. This one was also slightly elevated so the pediatrician scheduled an appointment at Children’s Hospital, without even discussing anything with us. We didn’t even know why we had to go until we got there. More tests were taken, including a skin biopsy to determine whether or not he did in fact have this disease. That helped fuel our denial after terrifying us. We started treatment at 3 weeks old before he was “officially” diagnosed by the hospital.

There were so many unanswered questions and we spent hours every day trying to find the answers, but only turned up more questions. It was an uphill battle with so many roadblocks. Between 7 and 8 months old, he was refusing to eat and drink his metabolic formula. It got so bad that he was losing weight and ended up in the hospital a few times. He was also falling developmentally behind and being referred to GI, feeding clinics, and therapies.

At 8 months old we hit a huge turning point when we finally found the right doctor. We traveled nearly 500 miles round trip every 6 weeks for treatment. The combination of excellent care, with the correct mixture of his formula, and adding occupational therapy has resulted in huge improvements. He’s on a low protein diet in addition to his metabolic formula and medication. He just turned 2, which is a huge milestone where the risk of brain damage significantly decreased! We now only have to see his specialist every 3 months.

GA-1 is an inherited metabolic disease where the body cannot break down certain amino acids. The build up of this can cause brain damage that can impair their ability to move as well as their intellectual function. “Symptoms appear as a “metabolic crisis,” an episode marked by low blood sugar, vomiting, lack of energy, difficulty feeding, irritability, and poor muscle tone that causes the body to seem floppy. If unrecognized and untreated with a special diet, these episodes can progress to cause spastic and jerking muscle movements, seizures, swelling and bleeding of the brain, coma, and even death. They can often be triggered by illness, fever, or going too long without eating.”

Since it is very critical to try to avoid illness we hibernate during the cold and flu season. It’s a lot harder than is sounded and the isolation is so tough, but worth it in the long run. We have our own “normal” and eventually you learn to how to deal with it. It’s not easy by any means and while other parents are deciding dinner on a whim, I meticulously weigh out Ethan’s meals to figure out all the protein and hope that he eats it all so I don’t have to end up doing more math by subtracting what he didn’t eat and finding something else to feed him.

Lastly, if I can offer any advice it would be to never give up! Don’t take no for an answer! I have fought so many battles to get Ethan the care he needs. The answers are out there, but they don’t always come easy. You DO have options, even if you think (and are told) you don’t. Never stop looking and never stop fighting!

For more info on GA-1, feel free to like Ethan’s page.

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