I have a small pineal gland which is usually the case with people who have aniridia.
I have low vitamin D levels (probably because I live in England and I don’t go out in the sun much) I have some tablets to take and then I need to get my levels checked and take a supliment if they are fine.
One lot of cholestrol is high which is due to obesity, it’s strange as I don’t eat much fat but I have eaten more fat here. I also had a few high blood pressure readings but I think that is probably stress as at home they are usually perfect.
I have protein in my urine but apparently although it is high for their lab it is not high for other labs and the nephrologists aren’t concerned. Strange because it isn’t the protein which is related to obesity! But it is nothing to worry about.
I have perfect hearing but I have difficulties with auditory processing as I cannot tell where sounds are coming from when there is a lot going on. That is also common with the PAX6 mutation and something that Dr Han and I had already talked about. I think that is where some of my anxiety and panic attacks come from.
I have a small uterus and ovaries but this could be due to the contraceptive implant but I won’t know until I come off it and try to have kids.
I have tendonitis in my right tendon due to having stiff calves. I need to stretch and exercise but not do anything which causes pain to let it heal. This may mean walking the great north run 😦
I am still waiting for results from the sleep study, psychology, smell testing and a few other things as well as my genetic mutation.
I feel it has confirmed most of my gut feelings about the things I had that were related to my mutation. Hopefully this will help me to manage things better now I have more of an understanding of why my sleep pattern is mucked up and why I have trouble understanding people and song words, learning music etc.
I also feel like I have done my bit to help the aniridia/WAGR community as we are such a minority and there is so much to learn.
It’s also left some questions, like is there anything in the kidney protein that is related to PAX6 and the ovary/uterus thing? After all no one really knows where the ‘G’ bit of WAGR lies specifically I don’t think. Maybe something will come up in my mutation or maybe these things are co-incidental. They just seem to be too close to home not to be related. I can see how the toe walking is a general VI thing for example but these other things just pose a few questions.
My next step is to make an appointment with a nice GP and get a few things sorted to see if they will check my cholestrol and vitamin D in a few weeks time and to see if I can get the referral I didn’t get a few months ago.