Miss Ava was diagnosed with Urea Cycle Disorder in March 2012. This is winter number two. I first posted about her condition here.
Another year has passed with another year of experience in Ava's living with Urea Cycle Disorder.
What is UCD? Here is a brief description from The National UreaCycle Disorders Foundation. A urea cycle disorder is a genetic disorder caused by a mutation that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted to a compound called urea in the blood. Normally, the urea is transferred into the urine and removed from the body. In urea cycle disorders, the nitrogen accumulates in the form of ammonia, a highly toxic substance, resulting in hyperammonemia (elevated blood ammonia). Ammonia then reaches the brain through the blood, where it can cause irreversible brain damage, coma and/or death.
We have spent the last two days in a children’s hospital, but are home safely now. Ava contracted a gastro infection and sadly she was unable to eat, but she was doing amazingly well otherwise and we were very encouraged by her blood results. When Ava is admitted her blood is tested for ammonia and in her case they like to see it stay under 20, and it was!!
Colds and infections are a usually frequent part of a child’s life, and in most cases they recover quickly at home. It is not a fun experience, but we all find our way through – as is with our son Xander. There are sadly so many illnesses that will change this story. In Ava’s case being a UCD child, the story can be very different. Ava’s protein intake can neither become too high or too low. If she takes in too much there is a risk her body won’t be able to deal with the waste nitrogen in her blood and thus rising ammonia levels - on the other hand if she doesn’t take in enough her body may start to break down it’s own stores and flood her body with unwanted protein and the same will happen. It is always a balancing act.
It has been nearly a year to the day since her last hospital admission and sometimes... momentarily... we drop our guard and it can feel like this illness has never touched our family, we are so grateful for those moments. We are also very grateful that we have had so few admissions, and that despite the struggle of maintaining her diet Ava is growing and thriving.
Our main challenge moving forward is working with the food aversions Ava developed in her first few years before diagnosis, that she carries with her.
Ava has had such an amazing year filled with beautiful experiences and and so much learning!!
We have an amazing Doctor and Dietitian, that take such great care of her. We are so pleased with her team, because they really take into account her individuality. They involve us on every level, and we feel cared for and listened to.
Our family and friends are so supportive. We are very lucky because this can often feel so frightening, and difficult to manage.
Miss Ava is our sweet little lady, and we are looking forward to the
coming year. She is a wonder and a treasure to us all, as is our
sweet Mr. Xander.
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