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…