4 years ago Boo was diagnosed with a rare genetic disorder called  Chromosome 1q21.1 Duplication . And in that time we have had practicall...

4 years ago Boo was diagnosed with a rare genetic disorder called Chromosome 1q21.1 Duplication.

And in that time we have had practically no support.

Boo has never been seen by a paediatrician and over the years when we have been trying to get various screening and tests done for him we have been palmed off by several doctors, mainly because they know so little about his genetic condition.

Just over a week ago Boo was due to have his tonsils removed.

He had a pre-operative check 2 days before his operation.

At this time (and several times before) I expressed my concern about Boo's health.

He has been complaining of chest pain almost every day for several months now.

I have taken him to see our GP about it in the past and bloods were taken, with the results being normal.
I asked the doctor if it was possible that the pain could be an indication of a problem with Boo's heart but was told that it was highly unlikely and that we should just 'keep an eye on it'.

I have researched Boo's genetic condition.

I know that a heart defect is a huge risk factor.
Even if he wasn't born with one it can still develop as he grows.

Despite this, my concern was dismissed and I was once again treated like an over protective parent.

On the day of Boo's operation we were booked onto the ward, all of the relevant checks done, and told that we were 4th on the surgical list that morning so there would probably be a little bit of a wait.

This wasn't a problem as it was something I had prepared for.

Secondary to his genetic condition, Boo also has autism, learning difficulties, an eating disorder, suffers with anxiety and struggles greatly with changes in routine.

I had spent several days preparing him for his operation, explaining everything to him over and over again, and answering his questions to the best of my ability.

He was extremely anxious when he was admitted into hospital but the nurses were absolutely amazing with him.

They made sure that nothing medical was discussed in front of him, and that he was made to feel relaxed and cared for.
He was given a portable DVD player so that he could put his headphones on and watch his Harry Potter movies, which are one of his biggest comforts when he is feeling anxious or upset.

The play therapist came to see him and took her time to explain everything to him and offered to come down to theatre with him if he wanted her to.

They were all brilliant.

But then it all went wrong.

The anaesthetist came to discuss everything with us and to go through Boo's medical history.
Once again I explained my concerns, but this time I was actually listened to.

After going away and researching Boo's genetic condition the anaesthetist came back to tell me that he was going to cancel the operation and refer Boo for heart screening.

He didn't feel comfortable giving Boo a general anaesthetic when there was such a high risk of a heart problem and no screening had ever been done.

Boo and Me

Unfortunately for Boo by the time all of this had taken place it was past 1pm, we had been on the ward since 7:30am and he had been nil by mouth since midnight the night before.

We were apologised to profusely, but it doesn't really fill you with much confidence when you ask why no one has done anything before now (considering I had been telling anyone who would listen) and you are told "I'm really sorry... you just slipped through the net"!

I have to admit I didn't take it very well at the time and had to sneak off to the ladies room for a little cry while the play therapist sat with Boo for a while.

I think it was more from frustration than anything else.

All of the time I had spent trying to get doctors to listen to me, all of the preparation to get Boo ready for his hospital visit, and all a big waste of time.

It didn't just affect Boo on that day either.

Dealing with changes in routine can be very difficult, and Boo had been prepared to be having an operation and then having 2 weeks off of school.
This meant that when it came to getting ready for school the next day he went into meltdown and couldn't understand why he wasn't having the time off any more.

I had to contact the school to let him know he wouldn't be in that day after all, and then I spent the next couple of days preparing him for going back to school on the Monday.

The day after his operation should have been completed an anaesthetist rang me and asked if we could come back in to the hospital to see them.

We went in to see them on the 28th, an ECG was performed and it was decided that it would be best to refer him to the cardiologist from Great Ormond Street Hospital.

So now we have to wait.


If he has a heart condition then it will be treated accordingly.

If he gets the all clear from the cardiologist then his tonsillectomy will be rescheduled.

It took us over 4 years to get doctors to listen to us and to get a diagnosis for Boo.

Now it has taken another 4 years for us to start getting the medical support and health screening that Boo needs.

And believe me... it's not through lack of trying.

I am fighting a constant battle to try and get my son the help and support he needs, both medically and educationally.

But I feel like I am constantly being failed by the system.

Surely not understanding a medical condition is not a good enough reason to be pushing a patient to one side and allowing them to 'slip through the net'.

I am extremely grateful to the staff from the Luton & Dunstable Hospital's paediatric ward.

They went above and beyond for Boo that day to make sure that his anxiety wasn't triggered, and because of them we are now on the road to getting the appropriate screening and care that Boo needs.

I will continue to fight the battle for Boo, as any parent would/does.

But it should never have to be this difficult.

Missy x

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