Ed’s Story

Our Edward is 9 years old.  He had a natural birth at full term.  During pregnancy, scans revealed that he had short long bones in his arms and legs. His head measurement was larger than expected and his stomach was distended.  Ed’s hands were tightly clenched in a fist formation.  We were told that there was a possibility that Edward had a chromosomal disease.  Regular scans were made throughout pregnancy.

When he was born, Ed had a seizure and prolonged acute jaundice and spent the first two weeks in the Special Care Baby Unit at Winchester hospital.  Once home, Edward was slow to feed and very floppy.  He was never an active baby and it was clear that he was becoming unwell.  At eight weeks of age, Edward was admitted to Southampton General Hospital with hypertension and acute renal failure.

This was the beginning of a nine week stay in hospital, during which time he had peritoneal dialysis and emergency surgery for a perforated duodenal ulcer. Initially we were told “it does not look good” as Ed was so unwell.  Surgery for the duodenal ulcer was successful, but with Ed’s kidney problems, we were told that Ed would probably never pee again. However, they had not reckoned his stubborn determination!

Ed did start peeing again, but he had high levels of protein in his urine and was diagnosed with Congenital Nephrotic Syndrome (loss of protein through the kidneys).   Ed had a kidney biopsy performed to try and find answers for his acute renal failure, but he suffered an internal bleed which required more surgery.  He had an embolization to stop the bleed.  He has 30% loss of function in his left kidney as a result.  However, over time, Ed’s kidney function has slowly improved and at three years old, the Nephrotic Syndrome resolved itself!  He now has a pretty normal kidney function.

During his stay at Southampton General Hospital, Ed’s Renal Consultant, Dr Rodney Gilbert, suggested testing for CDG.  He said that it was “a long shot” but he wanted to tick it off the list of possible causes for all of Ed’s problems. 

The results came back positive for CDG Type IIx. 

Since that time, a number of tests have been carried out to establish Ed’s sub-type.  Sanford-Burnham Medical Research Institute in California discovered that Ed did not match any known sub-types, but has a mosaic mutation of this. Ed’s CDG is not hereditary, but a spontaneous mutation.  He is SLC35A2-CDG.  At the time, Ed was one of three children worldwide with SLC35A2-CDG and the results were written up in the American Journal of Human Genetics.

Ed had severe reflux and was in a lot of pain and discomfort with it.  It was also affecting his ability to gain weight.  A couple of years ago Ed had a fundoplication, via keyhole surgery, to stop his gastroesophageal reflux.  This has helped Ed to gain weight.

Ed still has poor muscle tone, but has a great deal of determination.  It has taken him a while, but Ed can now hold his head for a short while and has mastered rolling over.  He is trying to crawl by pushing his knees forwards, but he does not have the upper body strength to weight bear with his arms.  Ed is tube fed and only eats a small amount of solids a day.

Ed cannot speak but he does vocalise and is trying hard to make words.  He can say “Edward”, “mummy”, “brother”, “Hello”, “yeah” and “babby” (daddy). We and the school believe that Ed will one day speak a few words!  Ed also loves to blow raspberries!!

Ed started school just before his fourth birthday.  He settled in straightway and particularly enjoys hydrotherapy, sensory play and tactile music activities.

Ed is a happy smiley and very determined little boy. Everyone who meets our happy, smiley little boy falls in love with him.

Would you like to share your family’s experience?

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