Tom's Story

Hi my name is Kate and I'm from New Zealand. I have a 3 yr old son who has Waardenburg Shah syndrome.  W.S. does not run in our family, so this news shocked us initially. I would like to share our story mainly because I have not come across anyone else in our position and if I can connect with someone, or help someone else... well that would be good.

I had a normal healthy pregnancy, other than having gestational diabetes in my last trimester. I was well monitored and had many scans as we all agreed that this baby was going to be BIG!!! We initially wanted to have a homebirth, but after all the weight predictions common sense prevailed.  Tom was born by C-Section in January 2004. He was a big baby: 10lb 12oz. Tom was transferred to Neonates immediately as his blood sugar levels were low. My husband gave him his first bottle. I actually felt quite sad, as I wanted to breastfeed him as I had my daughter.  Tom took the first bottle just fine and my husband loved being allowed his first hold and cuddles with his son.  Tom later vomited that first feed and his tummy looked distended. The next day, vomit went from bile, then to fecal matter, he never passed meconum.

An X-ray showed a bowel obstruction. We were quickly transferred to I.C.U in another hospital in New Zealand. After many tests and biopsies, Tom was diagnosed with Hirschsprung's disease. He had surgery at 6 days old for a loop ileostomy. The nurses noticed Tom was not responding to sound, and a few months later Tom was diagnosed as profoundly deaf. It almost seemed that each time we saw a health professional we got bad news.  It was a rough time for all our family, but especially for Tom!

Tom's other symptoms include global delay, generalized hypotonia, reflux, nystagmus, Mondini dysplasia (meaning the cochlea of his inner ears has 1-1/2 turns instead of the usual 3 turns). He has feeding problems (but is still breastfed), had a nasal gastric tube for 20 months and now has a gastrostomy.  His surgeon did a Nissen fundoplication to correct reflux. We have spent a lot of time in hospitals.  Tom has had trouble gaining and maintaining weight and of course there have been lots of infections.  The diagnosis of Waardenburg Shah or type four came a year after Tom's birth.  The test showed that he had a gene change in one copy of the Sox 10 gene, meaning that a single letter of the genetic code is missing.

I'm pleased to say things have improved. Tom had a cochlear implant 20 months ago. He now makes sounds, although he is still adjusting to wearing the device. Having the gastrostomy and Nissan procedures was the best decision we ever made. Tom is gaining weight and growing, and is happy. He walks around furniture, rides a 'Little Tikes' scooter and attends pre-school. We love and adore our beautiful boy. Things will always be difficult for Tom because of his special needs, but he has an amazing spirit.

Thanks for the opportunity to tell our story.
Cheers, Kate

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