Skye's Condition

What we didn't know then was that she had been born with a genetic condition known as Urea Cycle Disorder (UCD) that would mean she would not be able to process the proteins found in real food. She was unable to convert ammonia into urea due to missing enzymes in the liver. Ammonia is toxic to the body, and as its levels built up in her blood it was damaging her internal organs; especially her brain.

During the fourth day Skye became very slightly less animated and interactive. On the midwife's advice, and only as a precaution, we took her into hospital. At that time we had no reason to believe there was anything more wrong than slight dehydration or low blood sugar.

Her progress from A&E through the hospital eventually to the Neonatal Intensive Care Unit was desperately traumatic. We gradually gathered through the enormously compassionate and patient pediatric consultants that something more serious was underlying her unresponsiveness. By the following morning she was unable to breath on her own, and was placed on a respirator.

The next day she was transferred to Great Ormond Street Hospital since the preliminary diagnosis was a metabolic disorder such as UCD. This of course turned out to be correct, and Great Ormond Street have significant experience with these conditions.

It is possible, though distressing, to live with UCD. However, in newborns the ammonia can build up so quickly that when undetected it is often been diagnosed posthumously as a form of Cot Death. In a round about way we were lucky to have caught the build up early enough to have at least had the opportunity to try to control it, although ultimately we were not successful.

Results from her blood tests confirmed there were exceedingly high levels of ammonia in her system; some of the highest seen in a baby of her age. The immediate concern was that even short periods with an ammonia level of a third of her current level could lead to significant brain damage. She had sustained this high level for some time so there was no doubt that serious brain damage had already occurred.

In past medical records we were told that there was a sharp cut off in the survival rates of babies with high ammonia levels. No babies were known to have survived at all with levels even half those of Skye's. No further known treatment would have done anything to improve Skye's prognosis, and in all likelihood her brain was already irretrievably damaged.

The decision was therefore taken to let nature take its course, as it would undoubtedly have done had we not intervened. Once the various wires, drips, and respirator tubes were removed, we held her in our arms and talked to her through her final moments.

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