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Message: <blockquote data-quote="Bluenosesol" data-source="post: 165603" data-attributes="member: 20149">Hi Ally,  the condition is known as CHARGE syndrome, which refers to the physical impacts of the disease (coloboma, heart, artesia, retardation of growth,ear or hearing abnormalities). There are about 200 child aged cases known to the NHS. To be honest the consultant involved at the birth unit, quickly became irrelevant and as the condition is extremely rare, I could understand the problems involved. What I did take exception to was the consultant's attitude to me personally. Though in fairness he was both amased and extremely apologetic after the dust had settled. My biggest concern at the time, was that the pediatric nurses were trying to feed him and he was not physicaly abe, he required a jpeg tube. The feeding could have led to major problems associated with matter finding its way to his lungs. We are now tied in to experts in the disease, including the man perceived to be the "global expert" and the lead UK consultant works closely with our support group, so I have no residual "issues" with the initial medical team.BTW the condition is usually caused by mutation of the CHD7 gene, which in my grandson's case was confirmed by a blood test.All the best - Steve.</blockquote>

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