Since Freddie was a baby a team of genetic doctors have played a big role in trying to help find what syndrome Freddie has. They have done various different tests on Freddie but all have come back normal leaving him a bit of a mystery to them.
Today we had an appointment at the hospital to meet with the genetic team. Genetics appointments can be very full on and hard for parents to sit through and today’s was no different and I spent most of the appointment wanting to cover Freddie’s ears so he didn’t have to listen to all the things that were being said about him.
Alot was discussed in the appointment and it’s very hard to take everything in but here’s a quick overview of what happened –
I’ll start off with the negatives of the appointment – Freddie being stripped to his nappy while the doctor pointed out to us all of his dysmorphic features – and there was alot! Right from the tips of his toes to the top of his head. Every little detail of what is wrong with Freddie was pointed out, an incredibly hard thing for a parent to listen to about their child. Hearing a doctor tell you your child’s brain is wired wrong and that they have major problems is just heartbreaking to listen to, even though deep down you already know it. But we appreciate all that was done is necessary in order to help find out what syndrome Freddie has and the doctor was very kind and thorough with Freddie.
And the positives – The doctor thinks it is unlikely that any future children we have will be affected and Freddie is just a one off! Which is amazing news for us and will also mean that it won’t be something that Evie carries and could pass on to her children. They obviously can’t tell us for sure until we have a firm diagnosis but it has given us some hope for the future.
Also the doctor is actually going to test Freddie for a specific syndrome!! It’s a new syndrome that has only recently been found but the doctor thinks Freddie has some traits of another of his patients who has just been diagnosed with it. Hes not massively hopefully Freddie has it but thinks its worth testing for. So we will hear back in 2-3 weeks if its positive or not. I don’t know anything about the syndrome but if Freddie does have it we know the other patient is a young adult so he has made it through childhood and his teenage years! And as we know alot of syndromes come with shortened life expectancy so this is a massive positive to us.
A possible new problem was also spotted with Freddie when he was being examined so we will need a referral to the appropriate team and the doctor took some photos of Freddie so he can show Freddie to his colleagues to see if they have any ideas of what syndrome Freddie could have.
The appointment was tough on all of us but particularly Freddie. He really doesn’t like being touched by anybody and was very upset during the examination. So to cheer him up we had a nice bubbly bath and are now having big snuggles before bed.
Our perfect little boy.