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!!
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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I am so happy to hear that Miss Ava is well. This must be very challenging for all of you. Wishing you and your family health and wellness!
ReplyDeleteThank you so much! She is doing so well:)
DeleteI hate hate hate, that our kids have to go through these hospital visits when a simple cold, stomach flu, etc. gets to them...But LOVE LOVE LOVE hearing ammonia under 20!!!! Great job Mama!
ReplyDeleteThank you Shanna <3
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