It has been 6 months since our daughter was diagnosed with Urea Cycle disorder.
For those who are unfamiliar with this here is a brief description from The National Urea Cycle Disorders Foundation...
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.
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.
Urea cycle disorders occur in both children and adults. Newborns with severe mutations become catastrophically ill within 36-48 hours of birth. Children with less severe mutations present outside the newborn period or can remain undiagnosed because symptoms are not appropriately recognized.
Metabolic stressors -- viruses, high protein intake, excessive exercise or dieting, surgery, or a drug (valproic acid, prednisone or other corticosteroid -- can create excessive ammonia in the body and overwhelm the individual's urea cycle enzyme function, resulting in severe neurological symptoms. Seemingly normal adults with undiagnosed urea cycle disorders may present at emergency rooms with staggering, confusion, combativeness and disorientation that is mistaken for alcohol or drug intoxication. Ammonia quickly rises if untreated and causes coma and death.
Six months ago Ava 3yrs 7mths had a typical tummy ache and didn't feel like eating for a day, and mainly sipped water. We consulted our family Dr. with the usual concerns of possible dehydration etc... We woke to Ava in what appeared to be a seizure - she was completely unresponsive. The paramedics tried to rouse her to no avail; she was not responsive to pain tests etc...but her vitals were still ok. She was rushed to the hospital - they examined her very quickly...her blood ammonia toxicity levels were very high and other tests confirmed brain swelling.
They swiftly started dialysis and were able to get her ammonia levels under control. Thankfully because of the urgent care she received Ava came out of her comma later the following evening.
So far it would appear that there has been no neurological damage.
So how do we keep her healthy, and from having this happen to her again...
We hold vidual over every meal to ensure she gets the correct gram weight of protein in combination with calories and medication. Children with UCD can sometimes have extreme food aversions and often lack appetite (due to excess serotonin in the brain suppressing appetite), as a result of the condition it is extremely difficult to balance protein, calories and the required daily nutrition needed for a healthy developing active child.
Many children must have a G-Tube inserted into their tummy to receive the correct balance of protein, nutrition and meds. So far we have been lucky and Ava has been able to take in enough in careful quantities to sustain her health. We are however heading into the cold/flu season and this can be a very dangerous time for a child with UCD...it's very difficult and frankly impossible to keep her from getting sick so we are hopeful, and will see what the next few months have to offer.
If Ava becomes ill and cannot orally take the food and meds she needs she will be fed temporarily with an NG-Tube.
The next several months hold a fair amount of uncertainty for our family, but we have amazing support through Doctors, family and friends.