As I approach BBGs 2nd birthday, a milestone I thought I’d never see, I was looking back at what tests and procedures she has endured over the last year, and it got me thinking: when do you say “no more”?
To me my beautiful daughter is living on bonus time anyway, she is doing things I could never have believed would happen in my wildest years. Don’t get me wrong she is still not well and still needs help however taking you back to last year when we heard 2 would be her limit probably and that she won’t ever sit up, you can understand why I just look at her and smile.
I then look and see her crying as she has yet more bloods, I see her crying as she is prodded and slight electrical waves are sent into her muscles, I see her cry as she goes under general anaesthetic to have MRI and lumbar punctures. I see her cry a lot. All for the doctors to say that they still do not know what’s wrong with her. We can rule out certain things but not everything.
When do you as a parent say enough is enough. Stop testing her and let’s just deal with her symptoms? If a significant new symptom happens we will maybe do a different test.
There is a part of me willing for her to have a diagnosis where we just need to give her a pill and she will be fine. That part of me is willing for the testing to carry on. There’s also a part of me that says, if she carries on like this then we will just adapt, if she deteriorated like expected, we will adapt. We don’t need a diagnosis to adapt.
Yesterday we were at physio therapy and occupational therapy, and I explained she is falling a lot when walking. The solution… a little baby Zimmer frame thing with a seat has been ordered. As she has broken her arm due to a fall a helmet has already been ordered and we are just awaiting an appointment to go get it. Her kidneys aren’t good, so she is on kidney medicine. Her heart goes funky so we go hospital if needed.
All her symptoms are manageable, so do we need a diagnosis? That’s the question that is keeping me up at the moment, do I need a diagnosis to tell me she is super rare? Nope! Plus a diagnosis doesn’t mean they will know her prognosis it just means they know the faulty gene.
I’ll sit and wait for the big DNA test to come through, I will sit and wait for any new symptoms but I’m not going to dwell on a diagnosis that will probably never come. I am not going to dwell on her prognosis. At the end of the day she is living past an age I never expected and she is happy! That smile is all I need to know that she is going to be ok.