A diagnosis and a little background

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Isla was born after a normal pregnancy and is the 3rd child in our family.  She progressed normally reaching all her milestones normally.

We sought help early as she wasn’t babbling or talking.  Firstly she was referred to ENT and had a tongue tie release and adenoidectomy in October 2010 and grommets inserted.  When the surgeon told me there was no fluid in her ears I pretty much knew we couldn’t blame glue ear for the lack of speech.  A hearing test further proved it wasn’t her hearing that was causing the speech delay.

We first saw a Pediatrician in January 2011 when Isla was 2 and her speech still hadn’t improved.  Her understanding was age appropriate but she had less than 5 words and didn’t babble or try to attempt words in picture books.  She was interactive, busy and we didn’t think there was anything else wrong.  No evidence of pervasive developmental disorder was found.  We were referred to Special Education and Isla started receiving speech therapy.

After a year of speech therapy we requested a review by the pediatrician.  She was referred for another hearing test and told to continue speech therapy.  We were told there was no evidence of autism and it was just an isolated expressive language delay.

On 16 July 2012 when Isla was 3 years and 6 months we went to see a private Pediatrician as we had concerns it was more than a speech delay.  My intuition told me that something wasn’t right.  We were right to seek further help as she was diagnosed with mild-moderate Autism Spectrum Disorder, hyperactive behavior and development delays especially expressive language.  The pediatrician requested a Molecular Karyotype and Fragile X testing.

The Fragile X test came back normal but I received a phone call from the Pediatrician on 6th September 2012 saying that Isla’s Molecular Karyotype Report had come back abnormal and we had been referred for Genetic Counseling.  Isla’s report says she has a chromosomal deletion involving the interstitial region or 2q23.1 otherwise known as 2q23.1 Microdeletion Syndrome.

Not knowing where else to turn I googled everything I could about this syndrome and found the Facebook group which saved me and to this day provides continued support. I am now one of the Moderators. When I joined there were about 20 children now there are over 60 with new children being diagnosed all the time although we are still the only ones in New Zealand that we know of.  I discovered epilepsy is a major part of this syndrome so we went back to the pediatrician and requested an EEG, eye test, bloods, and help with her sleep.

Isla had an EEG on 12 October 2012 and sure enough it came back that Isla was having a small amount of generalised epileptiform activity (maximal anteriorly).  She had a few brief pale episodes with drooling and absences/staring when she was younger but we hadn’t thought much of them at the time. Now 6, Isla has since had quite a few small seizures and is now medicated. Pain and shock are triggers for her but her medication keeps her epilepsy mostly under control.

The first year after diagnosis was a period of grief, denial and then finally acceptance when I set about getting a workable plan organised to get Isla all the help she needs to maximise her potential. We sought help from speech therapists, physio and a OT.  We attended autism courses, Hanen More than Words course which was hugely beneficial and learned Makaton signing.  As early intervention is key, as I kept being told, I felt I was given a deadline to help her develop.  Isla had other ideas and progressed at her own pace.

As Isla has become older the traits of this syndrome have become more evident.  Her autistic traits more stereotypical – she doesn’t like change and is sometimes so fearful of new situations will shake like a leaf.  She has sensory dysfunction that is responsible for her ADHD (as she seeks input constantly) her stimming (she bites her hand and “eees” when excited) and her sensitivities.  She now speaks in sentences which I never thought would be possible but her speech is still very much on a needs basis unless she is asking why!  She cannot write well and struggles to read.  She attends a Satellite Class in a mainstream school which meets all her needs….lots of visuals, behaviour support, a quiet environment, being able to move around and learning at her own pace.  She is also obsessed with toys…Paw Patrol and Shopkins although has developed a great imagination to play with them with help from watching toy reviews on the internet!

New research papers are coming out all the time, mainly in regard to disruption of the MBD5 gene that seems to be blame for her intellectual disability and autism. We are constantly trying to raise awareness to raise funds for further research in the USA.

All of this aside I cannot imagine Isla simply being Isla.  My heart bursts constantly when she achieves something and she is just so cute. She makes us see the world a different way and she loves making others laugh.  She has taught her tween/teen sisters a maturity beyond their years and her mum and dad much patience!

Published by Sara Stythe

Hi my name is Sara Stythe and I am a mum of 3 beautiful girls. This is a place to share knowledge, resources and information I have learnt along the way on this unexpected journey with our unique youngest daughter. Isla is missing a tiny bit of her 2nd chromosome (2q23.1 Microdeletion Syndrome, recently known as MAND) causing autism, epilepsy and development delay. If you would like to receive my new blog posts by email you can subscribe. Thank you

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