Hi I'm Debbie and my little girl Gabriella has IP which was a spontaneous mutation. We didn't know there was anything wrong until she was 3 months. We had noticed from around 3 weeks her left eye would drift out but when we mentioned this to healthcare professionals it was dismissed as normal lack of control over her eyes. When finally at 3 months a Dr referred us to a specialist we discovered that Gabriella was already more or less blind in the left eye and that there were issues with her right. The retina in her left had been pulled right out and had folded and abnormal blood vessels had leaked and scarred her lens severely. We spoke to a surgeon but decided against surgery because he wasn't confident he could save any sight and she might lose the eye altogether. Her specialist decided to keep a close check on the right eye but didn't think anything would go wrong there. However when we returned for a check up 2 weeks later the blood vessels had started growing very aggressively and were bleeding. Despite 2 extensive laser surgeries the Dr was unable to save her sight in the right eye and Gabriella was registered blind on May 15th 2013 aged 7 months.
Throughout all of this the specialist was sure that Gabriella had IP but she hadn't presented with any skin issues. Blood was taken and whilst we awaited the results a large blister appeared on her hand when she was 5 months old. This turned warty but we hadn't realised this was IP until our specialist saw her and knew immediately. The blood test confirmed it about 3 weeks later.
Gabriella does have issues. She is not walking or talking yet but is incredibly bright. She receives a lot of support from physio and occupational therapists and they are confident her issues are from blindness rather than due to any physical manifestation of IP. Her teeth are not right. She only has 2 top teeth and these are misshapen and she does not appear to be getting any on her left side at the bottom.
Other than that she is a very happy little girl whom I adore. She is smart and feisty which will stand her in good stead later in life. I worry about the challenges she faces both in terms of her blindness and having children later due to the ip as we have seen some of the worst effects of the condition.