D-day (diagnosis day)

Had appt with Dr Pilidis today. She went through all the results so far and still didn't diagnose her.

I asked if she felt that with out the chromosome test did she not feel she had enough symptoms to diagnose DBA and she said she did. It's just that Reagan seems to manage to hold onto her blood pretty well, her MVC is not majorly high although she did say that this is difficult to judge in little ones.

So while she has all the diagnostic symptoms they're not severe.

We talked about treatment and she said she would start her one steroids soonish, we questioned whet it would bebetter to go straight to transfusions but the steroids could possibly send Reagan into remission, so it's a good idea to try them.

She had another blood test which she once again amazed me with. She had no cream or any kind of numbing stuff and she didn't even murmur!! What a trooper, she's soooooooo brave.

She also had an x-Ray on her hands to see if she has any deformity of her thumbs, that was fun! Ever tried getting an 8 mth old hold their hands completely still. So we'll have to wait and see if its ok.

I also asked if she could look at the x-Ray that they took when she was first born and had pneumonia. Because another symptom is a fused vertebrae at the top of the neck that gives the person a turners syndrome type neck. Which is an excess of skin at the back of the neck. Rememeber I told yoj Reagan has this? So she is gong to request the xray from Frimley because if she has it then it will show on there and it saves getting another xray and exposing her again.

Lastly she requested a scan on her abdomen, sometimes they have mis shaped kidneys. That won't be done till Nov though, when we Go back for our next clinic appt.

So the long and short of it is that yes she has DBA, at ten moment it seemed mild but she said we just have to see how she holds her blood over the next couple of months.