Beau-Lyn is a very energetic and cheeky girl who loves the people closest to her.
She makes everyone laugh with her funny character and a smile that can melt your heart and she’s always telling the people she cares for, ‘I love you’ or ‘you’re my best friend’. On a different note, she is a girl who loves to be seen and heard, so can be very loud and repetitive! Even so, she is sensitive to noises, so has to take her ear defenders everywhere she goes.
Beau-Lyn likes being outside, playing in the garden or the park, on equipment or doing activities. She loves hands on, messy and creative play, and especially loves water, either playing with it or swimming in it! Though she likes to be on the go constantly, she needs routine to feel comfortable.
We first noticed Beau-Lyn’s differences when she was around 6 months old as she wasn’t meeting milestones. I expressed my concerns that Beau-Lyn had autism from age 2 but the paediatrician told me she that she had a Global Developmental Delay, along with suspected PICA (an eating disorder), behaviour and sensory difficulties.
After years of fighting, when Beau-Lyn was 5 years old, she finally got put forward for an ASD Assessment. We had a portage worker who did Makaton with her for her speech and language difficulties, but an EHCP request was denied.
When Beau-Lyn was in Year 1, her EHCP finally got accepted and she started school in an additionally resourced provision (ARP) within a mainstream school. This has been the best thing ever for her as she copes much better and has improved in so many areas.
Beau-Lyn had a genetic test in early 2015, but no results were found. Her behaviours were believed to be as a result of ADHD, so when she was 7.5 years old we started her on medication to see if she had any improvement. After trying 3 different types, I decided to take her off the meds, as it was having no positive effects.
I requested for Beau-Lyn to have genetic testing again which is when we found out her diagnosis of DDX3X in July 2020. Since then, she has been diagnosed with Autism, epilepsy and mild scoliosis. She recently had a cognitive test where we were told that she works at the level of a 4-year-old intellectually and has a Moderate Intellectual Disability.
Her conditions to date are a Moderate Intellectual Disability, sensory difficulties, Autism, challenging behaviour, epilepsy, bilateral tight tendon – Achilles with wide based gait, mild genu valgus deformity, microcephaly, mild scoliosis and a congenital facial nerve palsy. She also self-harms by picking at and biting herself.
When we got Beau-Lyn’s diagnosis of DDX3X, we were so relieved that we had an answer to why she had these difficulties in life, but soon realised that we would still need to fight for help and support. It took over 5 years to get her diagnosis of ASD and fighting for sensory integration support has been ongoing for years.
Beau-Lyn’s challenging behaviour is a big thing for her. She can self-harm and hurt her siblings at times, usually because she is told she has to wait or she can’t have or do something. Difficulties with self-expression leads to frustration. Sometimes she tries to climb out of her car seat, putting us all in danger! After at least 8 years, we finally had our first CAMHS appointment but not much feedback was given.
An OT referral would be useful as sometimes she falls out of her bed. I’m afraid that she may have a seizure, but have, as yet, no support. So far referrals to the OT have been rejected and we’ve been told to supply equipment ourselves (for a specialist bed we are talking about several thousand pounds!).
My advice to other parents would be to research, do small courses around your child’s needs and use the groups for support and advice! DDX3X groups and local groups for SEN are so much more understanding! You know your child best, so keep fighting for what you feel they need and don’t give up!