Monday, November 26, 2012

Appointment from hell

Today we had an appt with the neuro at 3. So I got J early from school and all 4 of us went. Miss A was tired from kindy and was not happy. When we saw the neuro she started to have a meltdown. He kept talking as a new person came in . She is the new metabolic specialist just hired. The hematologist had told us about her. She was seeing the worst of Miss A and was asking if this was part of her condition. After throwing her muffin on the floor and jumping on my lap I was still trying to talk to both of them. Then a nurse came in and asked who was having a biopsy? My answer no-one here.
Little did I know...
I didn't even know the new specialist would be there.
In the end the nurse came back and took J and A out so we could talk.
The Dr spoke to me for 30 mins about how B12 is absorbed into the system and the multitude of ways it can go wrong. Also why Miss L is an enigma and why her testing is so strange.
She said that she was at a conference with the world leader Dr David Rosenblatt.
http://www.mcgill.ca/newsroom/channels/news/vitamin-b12-deficiency-tracking-genetic-causes-217756
They were talking about Miss L and what tests would be most suited. So strange to think that my little girl has world leaders in health talking about her.
After all that talking she explained that due to the fact that Miss L was exclusively breastfed the easiest path to an answer was to test me and my genetics. So I'm off tomorrow for blood tests done under her leadership. No need to wait for hematology she would be keeping the cases linked. In the meantime Miss L needed another lot of blood tests and some would be genetic as well. For now though she would need a skin biopsy. Part of the talk at the conference was how to find new problems and new faults in B12...in laymans terms of course!
After this I had to sign off on pages of paperwork and I was warned it could take 6 months for answers. They take a circular piece of skin and grow it in a lab. They then send it to Canada to the lab in the link above. It is broken down into the DNA and genetic code to look for faults. It is a long slow process that may not give an answer.
So into the next room where the nurse joined us meaning my 2 big kids were alone.
They laid Miss L on the bed and gave her a local anaesthetic. She squirmed a lot meaning they has to hold her tighter and the needle was getting bent. So not a sight to see. Then after a few minutes the not so nice bit. A needle goes in and punches a hole. They then lift the flap of round skin and cut it with a scalpel. Leaving me feeling like I was going to throw up-a first for me.
During this of course Miss A walks in and gets upset as L is crying and I can't talk to her and she won't leave the room. The next 15 mins didn't get any better as eventually I put A in he pram, held onto L while trying to put pressure on her leg. We made it to the car and I drove home in peak hour traffic.
An appropriate end to the most f'd up appointment ever.
No warning, no planning, 3 kids at the end of the day. Bad,bad idea.
Now I have to go tomorrow and get bloods taken a job I hate doing but better than having it done to my kids.

                                End of a long day and she gets her new favourite treat- an icy pole.
                                                        Poor red eyes from crying.

3 comments:

  1. Oh poor baby! I hope the new tests give you some definitive answers. x

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  2. Yep... I'm glad I finally got a chance to read this! When I was a kid, mum used to soothe me with banana lollies! Fingers crossed for some answers!! <3

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  3. Yep... I'm glad I finally got a chance to read this! When I was a kid, mum used to soothe me with banana lollies! Fingers crossed for some answers!! <3

    ReplyDelete