Yesterday I finally got to see the geneticist to have a discussion and some bloods taken so we can try and work out if I do have a faulty gene(s) and what we can do to help me.
If you are a regular reader, you will know I have various health issues which you can read about here.
The clinic was at the local Children's Hospital and I must say how much I liked the waiting room. It was lovely and bright with lots of toys and books for the children to play with. All of the staff were lovely and friendly and unlike normal waiting rooms, it felt cosy and warm. Despite whatever reasons the children were there for (of which I have no clue) they all seemed really quite happy and entertained, even though I soon realised some of them had seen a number of different people and been there for some time.
After a short delay I was taken to an office and was greeted by a geneticist. And three other people. A trainee, the secretary and a Dr.
The geneticist asked if I knew I why I was there and I told her I did and said my neurosurgeon thinks a have at least one faulty gene based on the conditions I have and that my brother, H and I look so alike. I took along the photo album that was made for me for my birthday, for which she was very grateful and all of them commented on how alike we all look.
When I told her about my brother's temporary blindness last year she asked if he had an ECG and I didn't know so she said the secretary will write to him and tell him to get in contact with them. I did mention that after speaking to his GP last month, my brother had been ordered a CT scan and I commented that I didn't think that would show up any neurological issues since mine only showed in MRI scans. So the secretary kindly said she would suggest a MRI for him as well.
The professor definitely wants H tested too and said that she suspects that his growth gene is faulty (and probably mine and my brother's too). With H, if that is the case, they can give him injections. Therefore I have to ask my GP for a referral for him to paediatric genetics. And also for an ECG.
I am to have an ECG too. And I was sent off to the hospital next door for bloods. Whilst she has a rough idea of what could be wrong and so some results will take 6-8 weeks to come back, others will take up to 6 months. I am also being referred to someone about my circulation in feet since my feet are almost always blue. My next NS appointment is on 4 March so I guess that will be postponed yet again since none of the results will be back.
She has ruled out what I thought it was which is Ehlers Danlos Syndrome.
So more waiting... But slowly slowly seem to be getting somewhere.