ALYSIA SHERLEY-PRICE

…Is a Diagnosis

Important...?…A Parents

Perspective…Genetic Alliance 08th July 2014

THE EARLY YEARS – UP TO 2 YEARS OLD

Alysia had a “Relatively” complicated birth From early stage:-

Alysia showed lack of emotional response – as parents we did not receive much feedback

Alysia did not sit up until 9 months, crawl at 15months , “basic” walk over 2 years old.. Very limited speech

As first time parents - still in “unknown” territory , was this behaviour normal?

Initially we were competitive parents

COMING TO TERMS WITH THE UNKNOWN

At 2 years Alysia was confirmed with Global Developmental Delay (GDD)

Initial thoughts – denial

Like all parents – there were challenges:- Difficult for Alysia’s younger sister, Isabelle

to adjust Watching Isabelle overtake Alysia and

ultimately take on a “junior” caring role

Not sure if we were going to be in Limbo for years to come

MANAGING THE “MIND”-FIELD…

It is difficult for parents to obtain the full “end to end” level of information

Project management skills – do we need them?.

Authorities – find it difficult to process you without a label.

Google helps and hinders – helps parents, but can be dismissed by some professions..

Aside the medical profession, there is help:- Other parents Prior to SWAN, there were no specific

groups for children without diagnosis.

SCHOOLING – A PERSONAL CHOICE…

As we still did not know if she would “catch up” we wanted to try mainstream

Fantastic school provided 121 support..

However there are also challenges…

Outside of school activities were limited Invites to parties and visits to other

peoples houses had to sometimes be very considered

You have to be careful not to become slightly recluse

Inclusion can become exclusion

WHY IS A DIAGNOSIS IMPORTANT ? – ITS NOT ABOUT THE LABEL..

Frustrating to find some medical professions frequently asking – what difference would a diagnosis make?

As parents – it’s critical…why? You have a starting point – a focus on research It may give an indication of the future for

Alysia Are other family members affected, is this

hereditary? Potential for support groups in the diagnosed

field Your future as Parents and family

The easiest label is “Autism” Would a lottery win change things?

DIAGNOSIS - THE NEWS WE WERE WAITING FOR…..

STXBP1- a memory etched

Immediately relaxed us.

Not only we knew what the issue was……We also knew what is was not…… Not issues with the brain Not a Chemical imbalance. No longer had “possible” guilt as parents Not going to affect the rest of the family… &, &, &…

The start of a New Chapter….

SO WHAT IS THAT NEW CHAPTER…?

After 10 years – we Can now start “stage 2” A Starting point:- World wide research for the future…

Adden Brooke’s hospital Cambridge We are definite about our choice of school We are more understanding of Alysia’s

behaviour and hence “psychologically” more equipped to deal with the challenges

Opens up to new support groups – although limited

For us, THIS is why it is important to have a diagnosis..

IF A DIAGNOSIS IS IMPORTANT TO PARENTS ….SOME CONSIDERATIONS ARE…..

Joining local support groups e.g. GA & SWAN. You learn a huge amount from networking with other parents

Be determined – you know YOUR Child better that anyone & they rely on you to fight for them

Don’t be afraid to ask and question, you have more rights than you realise..

How will you know the latest research and who will inform me?

Be prepared to assume the project manager role

Don’t be afraid to ask for help as parents - it’s tough!

THE FUTURE…UNCERTAIN YET MORE CERTAIN…?

Alysia has now moved to a special school in Hampshire

We now feel we have a relationship with a team of great professionals – but this has taken many years to build…

There are still some unknowns.. We would like her to be as independent a

possible to achieve her maximum potential. Historical evidence would suggest that she will

continue to learn Hope for new developments in the medical &

technical fields e.g. Advances in genetic science

So what’s around the corner…?

THANK YOU FOR LISTENING TO MY STORY…