Clinic 6: Chromosome abnormality?


Today we went in to Clinic 6 to see Annie’s cardiologist.  We didn’t really know what to expect as this was our first outpatient appointment.

Clinic 6 is where very sick children in Cambridge are seen by various specialists.  There are some very poorly children there, but if you ever wanted to be inspired… by the truly amazing medical teams, the children themselves or their parents/carers … I’d definitely suggest some people watching!   #inspiring_and_they_know_it

The meeting started well.   Our consultant told us that the genetic results were back.   Before he finished talking I was reading his screen and could see the good news!   Charlotte couldn’t believe it – what a relief.   I had prayed, that if we received bad news that I would be able to receive it with grace and treat as a blessing.  I hope I could have done, but thankfully I didn’t have to.   If Annie had had 22q deletion, for example, she could have had learning difficulties and be at additional risk of infections etc., which could complicate her cardiac issues.   Depending on the research you read, there was a 25-40% chance of a chromosome issue being identified, so again, we were very blessed.

From a cardiac perspective, not too much had changed.  There’s a chance that between 6-8 weeks of age Annie may develop some breathing difficulties, but we’ll deal with that if/when it comes.

I rushed out of the clinic to call my dad to share the news.  Charlotte spent a long talking to one of the cardiac nurses.  She is truly an expert and exceptionally knowledgeable.   However, what I will always remember is how much she cared.  She listened deeply to Charlotte and reassured where she could.  Nothing was too much trouble and she took her time.  I’m not sure you can teach what she gave us that morning… but I’ll never forget it.

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