|Diagnosis||46 , XX , der (4) t (4 ; 10) (q35 . 1 ; q23 . 32) pat . nuc ish (4qterx1) , (10qterx3)  , (RB1 , D18Z1 , D21S259 , D21S341 , D21S342 , DXZ1) x2 |
|Parents||Christie and Jason Barsley|
|City||Kuranda, Queensland, Australia|
Ivy's karyotype: 46 , XX , der (4) t (4 ; 10) (q35 . 1 ; q23 . 32) pat . nuc ish (4qterx1) , (10qterx3)  , (RB1 , D18Z1 , D21S259 , D21S341 , D21S342 , DXZ1) x2 
Jason's karyotype: 46 , XY , t (4 ; 10) (q35 . 1 ; q23 . 32)
I viewed the presentation by Daryl Anderson and this was extremely interesting and helpful, it's been hard to find information. I will pass it onto her doctors, OT and physio as it is such an unknow syndrome.
Ivy has a lot of the features outlined in the presentation; narrow eye openings, arched eyebrows, arched/high palate, flat noise bridge, bow shaped mouth, small low set ears, short neck, sloping sholders.
We had Ivy's heart checked soon after leaving hospital and no abnomalities were detected, expect a small hole (6mm atrial septal defect), which we were told should heal itself - follow up when she is 3. Also no kidney abnormalities detected, however they did detect a small amount of blood in her urine which has never been explained.
Ivy has bilateral ptosis and has had two procedures to lift her eyelids. It has made a big improvement, however she still holds her head back to see and has a left lazy eye. Her eye sight itself is fine.
Ivy has 'glue ear' and as a result has mild hearing loss (40 db). She wears a soft conductive hearing aid and goes to fortnightly speech thearapy as she is not yet speaking - she does make noises and can say mum, dad, nan nan and yum. Her otolaryngologist tried to put grommits in earlier this year, however her ear channels are too narrow, but he did remove her adnoids which made a slight improvement (was 50db before the procedure). It is disappointing/frustrating that she can't have grommits as the ear itself is fine. During this procedure they raised the concern that she also had narrow airways. Since birth Ivy has had a strider and she was referred to another otolaryngologist who diognosed larynomalacia and in April he lasered the muscle in her voicebox - she no longer has the strider.
Ivy is not yet walking, however since her laser procedure see has more energy and I believe is not too far off crawling. She definitely has hypotonia and also tremours when she concerntrates on grabbing or picking objects up, however this is improving as her muscle strength and movement improves.
Ivy suffers from cronic constipation, this has been since birth and she also has difficulties with bowl movements. Initially she would even strain and struggle to pee, now she still suffers to do number twos. She has had rectal biopsies to rule out hersbrungs disease. Her low muscle tone is likely the cause, so hopefully this will improve as she moves around more.
Ivy also has scoliosis - consultation booked in July.
Aside all of the above, Ivy is a happy, healthy two year old. She has unbelievable strength and a very strong, determined attitude.
We live in Australia and have recently moved back near Kuranda, Queensland, closer to family support.