Today we had Freddies genetic appointment. For the past 2 years the gentics team have been trying to work out what mystery syndrome Freddie has.
We were at a different hospital today so we hadn’t seen this team before and I really wasn’t looking forward to dragging everything up from the past 2 years. How the pregnacy was, how the birth went, what he was like as a baby, it’s a lot of heartache to speak about.
Thankfully the man we saw was incredibly lovely. So kind & understanding. In the past when we have seen other genetic doctors they have been quite blunt & to the point. He had read up on Freddies notes and was very sensitive in the way he dealt with us. The appointment was still hard tho, every little problem with Freddie was noted.
In our ‘normal’ life Freddie to us is just Freddie. We overlook everything. Sometimes at home, when we are on our own I almost feel that Freddie is ok…maybe he doesn’t even had a syndrome. That may sound silly but you get so used to everything that it just becomes so normal, we live in our own little bubble.
I don’t see the trigonecephaly or the sparse hair, things like dribbling, tongue protruding & teeth grinding is just what Freddie does, his bent, curved fingers & toes are just perfectly normal, every part of Freddie that makes up his dysmophic features are normal to me. His severe delays are just…normal, i can’t even remember what a 2 year old is supposed to do.
We discussed all of Freddies issues, the epilipsy, developmental delays, the skull problems, sleep issues. We spoke about what tests he’d had & what research study he was on. We spoke about having more children and the chances of this happening again. Freddie was stripped & had a thorough examination, every problem from top to toe was written down.
The genetist unfortunatly had no answers. He spent a long time just looking at Freddie, racking his brains for an answers “Well he obviously has something…..but what….It will just be so rare”
Leaving the appointment I felt like somebody had burst our bubble. Obviously for a two year old to dribble to Freddie extend, tongue protrude & grind his teeth isn’t ‘normal’ He obviously has something.
There’s no words to really describe how the appointment has left me feeling. Like any other parent I love my child. I want the best for my child.
I don’t want this for him. I hope that people see Freddie as I do, I don’t want them to see his problems, I want them to look beyond that and see the little boy he really is, my Freddie. My beautiful, perfect little boy.