Karyotype: 46XY del 3p (26.2-26.3), dup 4p (16.1-16.3)
E-mail: Contact Jacqueline here
Flynn is an only child. He was delayed in his milestones but didn’t appear to ‘fit’ into any recognized medical conditions, so finally after 18 months of unanswered questions to our Paediatrician we had genetic testing done.
Flynn was diagnosed at 18 months with De Novo Terminal Deletion 3p26.3 – 26.2 (around 14 genes)
and Terminal Duplication 4p16.3 – 16 (104 known genes) – Lab results: “Any DNA array finding of deletion plus duplication, both apparently terminal (as in this case) suggests an unbalanced product of reciprocal translocation”.
Born at full term by c-section, normal pregnancy. Birth Weight 3.27kg (7lb3oz), Birth Length 50cm
Had floppy baby syndrome (Hypotonia Low Muscle Tone ) Not a cuddly/snugly/ticklish as baby
Daily ‘Breath Holding’ episodes from 9 months – 2 years. When frustrated or upset he would cry so hard that no noise would come out, his whole body would stiffen with shaky movement then turn blue (cyanotic) and become limp and collapse. His body would then recover and he’d start breathing again. (Apparently this happens for 1 in 20 children) Heart beat is fine.
Little head, but growing normally
Large hands and feet from birth. (like parent)
Slept through from a very early age, and always settled well. We did wrap him tightly as a baby.
Had tucked in thumbs (low muscle tone in pad of thumb)
Dermatology tested at 8 months – has Eczema since birth
Had a pot tummy – did food allergy assessment with bloods and discovered Gluten and Dairy intolerant plus some other foods.
One ear sticks out further than the other
Ear infections: 2 months,16 months plus a couple of others
Snores or loud breathing since birth…Adenoids out – May 2009, snoring subsided a bit.
Rolled ankles – wears orthotics (custom ones since Sept 09)
Pupils really small and he’s a little sensitive to light. (Have to be aware when older as it is a sign of Opiate Intoxication!)
Disliked loud noises, he’s still not keen on un-controlled noise
First sit up: first 4.5 months more confidently by 6 months, total control 9 months
Crawl: I year – did commando crawl before that. We had a Bee on casters which he was very proficient at also.
Stand alone: 13 months
First Step: Walking at 18 months. Had a wide gate due to low muscle tone.
First Babble: never babbled – at 15 weeks was making ‘noise’ own words around 5 months
First Word: Mum, Bub, Geng around 1 year
First putting two words together: 27 months
Began speaking in sentences: not long after around 30 months
First feed himself: 7 months
Was a very hungry baby and stopped on breast feeding at around 5 months.
He doesn’t know when he is full – have to monitor food intake.
Dribbled until 2 years – (low tone in mouth)
Always had his hand in his mouth (or all 4 fingers @ 3 months) (oral sensory seeking)
First Tooth: 1 year
Teeth: Now that the 2nd teeth are starting to come through there is not enough space, so we are using plates to reshape his mouth which will hopefully allow him to breath better as well as allow his teeth room to come down.
Griffiths Assessment Aug 2008 & Mar 2010. Audiological Aug 2008 & 2011. Speech July 2008 & Sept 2008. Food Sensitivities Oct 2008. Genetic Oct 2008, final results Mar 2009. Eyes Dec 2008 & 2011 & 2012. ETN (Nose) May 2009. PDD-NOS & ADHD Diagnosis May 2011. Mineral & Hair Analysis Oct 2011. Psychological Assessment Jan 2012.
Flynn has been diagnosed as being on the Autism Spectrum with PDD-NOS as well as ADHD. However if we keep his body regulated with appropriate movement and exercise we believe a more fitting diagnosis for Flynn is Sensory Processing Disorder rather than ADHD. Yes he is very active, however he will sit and play for hours with cars, megnext or anything if he is interested enough.
Speech Therapy: started weekly at around 2 years of age. Adjusted over the past 4 years depending upon requirement. Currently doing Behavioral Speech Therapy weekly.
OT; started around 18 months for thumbs and fine motor. Adjusted over the years, now focusing on handwriting/cutting and regulating his “Engine”.
Physio: started around 18 months for wide walking gate and torso strength.
Attended Day Care: 1 day a week at 2 years old for interaction and additional growth.
PreSchool: started at 3 years old and continued for 3 years until 5 years old due to developmental delay.
Humpty Squad at 3 years – Group play which encourages co-ordination with sport.
Lifestart: Early Intervention group, started at 4 years and attended weekly for 2 years.
School: Started St.Lucy’s in 2012 which is a school for special needs children with incredible sensory facilities. We placed him here due to his current behaviour and its small size.
Things he’s not so keen on: Dress-up as items on his head or over his face worried him
Won’t stand still when being dried with a towel.
Hates having his hair cut (the noise of the scissors or clippers)
Doesn’t cope well in group time when others are in his space.
Doesn’t like singing or others singing, teddy bears or stamps on his skin
Flynn has always been pretty good at comprehending, loves to learn and picks up new vocabulary well. Good with numbers but not so good with writing. The iPad or white board is great for that!. Mechanics intrigue him and he’s always been a fan of keys and locks. Always been spatially aware, loves to swim, LOVES Dogs and Pigs. He’s a very kinesthetic kid, loves cuddles and kisses and he responds with compassion when others are sad.
Flynn is a loving, curious, determined little boy and indulges in hugs and entertaining people. Our goal is to encourage Flynn to participate and communicate in a way like all the other children of his age. He can do this as he has full comprehension; however he just needs a little help along the way.
Thanks for reading and I hope this information has assisted you on your journey.