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Stephen was born on 13 October 2006 with a normal delivery, he weighed 2,83 kg (6.23 lbs) and was 49cm (19.29in) long. He was healthy at birth except for high levels of jaundice which he needed to be treated for.  After about a week of treatment the jaundice subsided.

He developed normally but we were always a bit concerned about the fact that he only started smiling at 12 weeks, his head control was poor and his hair looked different.

At his 6 month checkup the pediatrician raised concerns about his development and possible problems that Stephen might have. We immediately had blood tests done which were sent to the Kennedy Institute in Denmark. Simultaneously to this we visited several specialists who all diagnosed Stephen with Menkes.  The final confirmation came when we received the positive blood tests back from the Kennedy Institute. Up until this time, although delayed in his development, he could still reach for toys in his cot and he used to smile quite often.

At 7 months, Stephen started having his first seizures. He was immediately put onto medication for it, unfortunately this made him very irritable and he was moaning and crying most of the day unless he was sleeping and unfortunately, he also stopped smiling. The medication was however effective in reducing his seizures and from about 11 months his behavior started to improve considerably.  Unless he is sick or teething he is in a good mood most of the day. He also started to give us the occasional smile again and recently has started laughing!

Stephen has had ear infection twice and has been submitted to hospital for bronchitis once, other than this he has been generally healthy.

Stephen is still eating and drinking well and is a big boy he is now 18 months and weighs 12.5kg (27.55lbs) and is 92cm (36.2in) long. Stephen still gets seizures but with the medication it is better controlled. 

As a family, it has been a real adjustment caring for him.  Our parents look after him one night a week and we have assistants who come in another two nights a week to help.  At the moment he is sleeping relatively well and most nights we are able to get a good night’s rest. During the day we make sure that he gets lots of exercise by exercising his legs and arms.  He also receives physiotherapy twice a week and reflexology every two weeks to stimulate his muscles and he really seems to enjoy this.

Although Stephen can’t do the things that normal children of his age can do he is such a strong little boy and is doing the best he can, he bring us lots of happiness and joy and we love him so much, he is our little angel here on earth!

Stephen’s parents,
James & Erma
South Africa, Johannesburg

Posted: May, 2008

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Sadly in the early morning hours of Sunday, July 5th, 2009, Stephen left this world. He went very peacefully with Erma and I by his side.  Although we are very and heart broken, we know now that he is now at peace and free from all the problems that he had to face here.

Stephen’s parents,
James & Erma
South Africa, Johannesburg

Posted: August, 2009



 

 
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