On wednesday we had our follow up appointment after the eye exam under anaesthetic and to our devastation, the consultant took back all the good news she had for us immediately after the eye exam. She talked to the professer in the meantime and he said it was very clearly a rare eye condition that we'd worried about. All the blood tests came back negative, she told me now that they were testing for antibodies to viruses, that I might have had during the pregnancy. She's going to refer us to a Genetics Consultant, they drew more blood from Emm (poor girl!) and examined my eyes, which were clear, no sign of the disease (it's believed that for most people with a gene mutation for this disease, there are only very subtle changes on the retinas, that are never noticed and never cause any problems), to pass this information on the the Genetics person. The baby will have to be examined as soon as it's born, too.
Emm also needs laser treatment to the scars as soon as possible, within the next two weeks. They don't think she's a candidate for drug treatment, which might stop abnormal blood vessel development. However, the consultant and the professor have only seen one case of this before, so they are trying to get 2nd opinions. It'll be hard to find them in Ireland, as it's just too rare, but apparently there's one specialist in Michigan, and there are some people in the UK and other, bigger, countries, that have several patients, rather than just one.
We weren't told if the disease is active at the moment, if there are abnormal blood vessels, if there's exudate (fluid that leaked from blood vessels and seperates the retina from the back of the eye), what stage she's at, but I think it's a matter of the consultant not being sure herself yet. The angiogram pictures were extremely blurry, nothing like the examples I'd seen online, so it might be hard to tell from them, unless there are others that are clearer, that I haven't seen. We're not sure if both folds had been there all along, or if she developed one of them in the last year.
I phoned the secretary on Friday, trying to see can I talk to the professor maybe, I couldn't. I was trying to get some more information, saying that I was doubtful they'd find a specialist with enough experience in Ireland, and of course lost it and got all choked up with tears again. They assured me that they are consulting specialists abroad, and that the consultant would call me on Monday and let me know if she's heard back from anybody.
After a two week break where we were recovering from the stress of the day procedure and MRI, starting to be just happy that it wasn't progressive and that she didn't need any treatment, even if it confirmed that she had very reduced vision, where we were getting back to celebrating birthday and halloween, cooking, baking, shopping, outings to the beach and market... now we're back to frantically trawling the internet for any information we can find, specialists, and how people find dealing with them, treatments, prognoses... It's heartbreaking to read the stories of children's vision deteriorating, the problems they have dealing with it, the horrific operations some of them need to have... We'll have to work out a way of getting back to living in the moment, to dealing with what's happening with Emm now, rather than worrying about the future. But I feel I have to be sure first I am not missing any vital piece of information that might help us! So it's long nights on forums, and google, trying to read medical papers where every second word is new to us, looking for information in english, german, i even worked my way through a dutch page, using the 'translate' button and what patchy knowledge I have of dutch. A lot of the information out there is outdated, there have been a lot of new discoveries in the last ten, five, two years.