Sabina's metabolic disorder

 A few weeks after her birth the final diagnose was known; she had a rare inherited metabolic disorder, called D-2 hydroxyglutaric aciduria. At that moment, only 8 children were known to be affected by the same disorder. The pediatrician who told us this news said the prognosis was bad, and, according to him, the only thing we could do for her is to try and make her life bearable. Again, we felt like there was no ground under our feet. But she kept on fighting and so did we. In the meantime, medication was adjusted; the Phenobarbital was discontinued and Dilantin was started. Sabina began to be more and more awake. At six weeks of age, she started smiling at me and for me this was a sign something good was going on in those harmed brains of hers. The only thing that kept us from taking her home at that moment was her feeding problems; she vomited a lot and kept on loosing weight. They decided she may need a jejuno-tube to feed her, but during that surgery, they discovered she had a pylorus stenosis and they removed this and decided a jejunostomy was not needed. She had to be fed by gastro-nasal tube and we learned how to do so.

When she was 2,5 months old, we finally took her home and we felt so rich, so happy. After one week, we were able to remove the tube from her nose and she drank all of her bottles by herself and with much pleasure. She even began to look more chubby and feeling good. These were wonderful months. We even discovered that she reacted well to additional glucose in her feedings; she even had less to no seizures when she took enough glucose. In April 1998 she began to vomit again and we went to the hospital to check what was going on; she had reflux but they told us there was nothing to worry about. But she kept on vomiting and losing weight which was attributed to an atonic stomach. They suggested to try a jejuno-tube; this surgery was performed on August 18, 1998 and it almost killed her. The tube was misplaced; she got peritonitis, a perforated bowel and four major surgeries in one week, followed by 9 months of hospitalization due to other complications (thrombosis, sepsis, infections, etc.) and other incredible mistakes made by the medics. But she survived and finally on May 13, 1999 we were able to take her home again.

During the months that followed, we had to go to the hospital a few times, because of pulmonary problems, colds and tonsil’s which had to be removed. Her immune system got weaker and weaker and the pneumonia’s followed one another. In October 2000 we finally went to see another specialist who saw her as a little girl and not as a case. He told us she had been given the wrong medication for too long; we would have to discontinue the Dilantin and Tegretol as soon as possible; it had broken down her immune system, caused bone problems (scoliosis and other irregularities) and had made her drowsy and less alert as she could have been without them. In the week we started to build down the doses, she started to sit by herself and grasp for toys; she even started making noises and laugh about them. This was just a confirmation to us that this specialist was right.