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Ben Silvester |
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Mark and I were living in London having arrived there in January 1991 from New Zealand when I became pregnant with our first child. We were really excited and I had a brilliant pregnancy. After discussions with our GP, we decided to have the baby at home. Ben was born a week early on Monday, the 5th of December 1994. He weighed 6 pounds and his apgars were 9 & 10. We were so thrilled with our perfect wee boy. He began breast feeding and the mid wife was happy to leave us. He did not feed much that day and when the midwife checked him at 11am on Tuesday, she was satisfied he was doing well. However, he stopped feeding at lunch time. About 8pm Ben began to cry and did not stop till about 8am. Wednesday morning when he appeared to fall into a deep sleep. I phoned the hospital |
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during the night and was advised to give him water on a spoon The mid wife got my message and called in at 11am. She was immediately concerned about his drowsiness and floppiness and we took him to the local hospital, 5 minutes away. By the time he was assessed his core temperature was really low and he was not rousable. The doctor admitted him to the ward, however he was transferred shortly afterwards to the neonatal unit. Mark and I were terrified and could not believe that things were going so horribly wrong. We still had not told all our friends and family back home that we had Ben before we had to call our parents to let them know he was extremely ill and no one knew why. Ben was the first grandchild on both sides of our family and everyone was eagerly awaiting his birth. Mark and I stayed in the unit that night and on Thursday when we went into Ben�s room he fitted and stopped breathing. We were devastated. He was ventilated briefly and had a maximum of 7 IV lines in. All the while the doctors were trying to diagnose his condition and we were feeling guilty about the home birth thinking he had septicaemia or meningitis. It was not till the afternoon on Friday that one of the tests showed something that was picked up by a great paediatrician and he contacted the metabolic professor at Great Ormond Street hospital. He was transferred there that night and was kept sedated for about 2 weeks. The diagnosis was a relief to know but as we learnt more over the next few weeks we realised how uncertain and difficult Ben�s future was going to be. It was also hard to come to terms with the fact that we were both carriers despite no family history on either side.
During Ben�s first 2 years of life he was in hospital monthly. It was difficult finding the right balance between diet, medication and his growth. Often he would wake us in the middle of the night with severe vomiting and floppiness. At 18 months he developed febrile convulsions which led to general fits. He has fitted between 20 � 30 times. Now that he has grown out of the febrile stage he is a lot better and has not fitted for 2 years. Since he was 2 years old Ben has been attending outpatients every 4 months or so. We have always known that his liver was enlarged but know very little about the significance of this or the state of his liver enzymes. He used to be pretty unstable but falls a lot less nowadays. As he gets older Ben seems to becoming stronger and more stable. He is in a main stream school in New Zealand now. We moved back in February 2000. The country is currently setting up it�s first metabolic unit. Ben is achieving all his milestones later than normal. His speech is markedly delayed and he is still wearing pull up nappies. Through out it all Ben has grown into a caring, sensitive and sociable little boy. Despite his communication difficulties he has an innate ability to draw people to him. Every day we marvel at him and his achievements and know how blessed we are to have such a beautiful loving child. Mark and I would do anything for him and are keen to learn as much as we can to help him. |
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Ben's Information as of November 2000 |
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Contact: Mark & Michelle Silvester
E-mail: [email protected]
Birthday: December 5, 1994
Home: Auckland New Zealand
Age at Diagnosis: 5 days
Other Diagnoses: Low iron, potassium, and zinc, Seizures
Siblings: Aria, (February 13, 1999), not affected (tested in utero)
Amber (August 15, 2000), not affected (tested in utero)
Protein Allowance: 22 grams per day
Weight: Approximately 22 kilos
Medications: Arginine, Sodium Benzoate, Tegretol, Potassium,
Seravit (vitamin supplement), and Multidextrin (Calorie supplement)
Liver status: Enlarged liver
Developmental Status: Global delay, particularly language and toileting. Low muscle tone. |
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Ben, age 9 and sisters Aria (in pink) and Amber (in blue) |
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