After two emotionally draining days in the hospital, (a morning for the MRI and until half 6 in the evening for the eye exam) we got some good and some bad news. The MRI brain scan seemed to be clear, at first glance from the radiologist, which is a big relief. The fluoresceine angiogram did not show up any abnormal blood vessels, which means if we're dealing with an exudative retinal disease, like it is at least not active at the moment. Coats disease was ruled out by the consultant, which is good news as well. The photos they took of the back of her eyes however showed that she indeed has two retinals folds, one on each eye, covering the macula (area of central vision, the area you use for fine detail, like reading) reaching all the way to the optic disc. There's also scarring of the peripheral retina on both eyes. The specialist thinks it happened before birth, and may not lead to further scarring or damage, but this kind of bilateral retinal folds is very rare, so she is going to consult another ophtalmologist to look at the photos. Emm will need 'help with her schooling' is as the specialist put it, they can't say how much she actually sees at the moment. We don't know will she be legally blind, or visually impaired, or if she will require a special needs assistant in school. She seems to be doing OK at the moment, as far as we can tell, so we can only hope that there won't be any deterioration to her vision.
They drew 5 vials of blood which are being sent off for testing, but she wouldn't tell me what they are testing it for. We are guessing genetics, or maybe antibodies to a virus, as there are some viruses that can cause retinal damage to the unborn baby. I asked a nurse could I have a look through the file, which was one the counter, and she said I'd have to make an official freedom of information request!
That peed me off quite a bit. But I was in no shape to argue, as I'd been crying on an off the whole day, beginning as soon as we walked in, with the registrar asking for a 90€ fee, that I had not been informed about in our appointment letter. I really am pretty useless under stress (and under the influence of pregnancy hormones). I was so upset that they would ask people to pay a fee when it's tests that one of their consultants has ordered, without warning the parents beforehand, 90€ is a lot of money and there are more costs involved, with travel costs and days off, and not everybody can just pull out their wallet and present that kind of money. It turned out that, as we have her covered under my husband's health insurance, the fee was waived, but it took some phone calls to get her policy number, as we hadn't been told that the health insurance would be involved in this (all the previous appointments, including the MRI, had been free of charge). The registrar was pretty unfriendly with me, saying I should know that there's always a charge with the day ward, and that I'd have to pay it every time (setting me off again, realising I'd have to come for more tests with her!).
I'm so glad P was with me! He kept his head and let me cry it out while he took Emm to the waiting room which had lots of toys. She had been fasting since 7 that morning, with no water after 9.30. We were asked to come in at 11.30, and we'd been told that they'd start the procedures around one, or one thirty. That actually meant that they started the 'list of patients' at one thirty! Emm's name on the board had all the boxes ticked and we expected to be next, for ages, Emm soon turning into a very unhappy, cranky, angry child being so hungry, at half two we were told that it wasn't her turn for another while, and that we should try to get her to sleep a little, at half 3 another little boy came back from theatre screaming, really upset, and not stopping until it finally was Emm's turn at ten to four. I was allowed to go into theatre with her until she was asleep (with gas), but was then immediately more or less frogmarched out to the staircase, and asked to wait downstairs.
I couldn't bear to be any further away from her than strictly neccessary, and after P tried and failed to take me for a walk we waited right outside the elevator doors. She was crying when they brought her down, at about a quarter to five, and it took a little while to settle her. She finally took some water, and then some toast, around five. Ten hours of fasting is a really long time for a not even two year old who's only 10.7 kg! We were allowed to leave at half six, and Emm was back to her usual form by then. P and I hadn't eaten all day either, so we stopped at a burger king on the way home, not our usual choice of venue, but we were so hungry by then, we didn't care... Emm loved it, of course, and ate lots of fries and played happily with her crappy plastic toys, but she's not a fan of the chicken bites (they are vile) and wouldn't have much of her juice, either. We finally got home around 8 that evening and were fit for nothing, which is exactly what we did, after putting Emm to bed. I actually went to sleep soon after her, around nine, and P stayed up a little longer, having a beer and watching a DVD, winding down.
We've been googling some more but it really must be an extremely rare occurence, as we can't find any more information! I have however found one similar case in Germany, and contacted the parents, to find out what they've found out, about their daughter who is only a little older than Emm.