Hello, my name is Owen. Mum and Dad call me their young warrior because
every day I continue my battle against a condition I was diagnosed with when I was three months old.
I have a rare genetic brain malformation condition called Lissencephaly.
It’s quite a mouthful but it means that my brain is smooth like an egg and
doesn’t have folds and grooves in it like most other people
As a result of my Lissencephaly I also have spastic quadriplegic cerebral palsy,
cortical vision impairment, epilepsy tendencies and global development delay.
Despite my tough start, I’m a happy little guy. Every day I try my best at my
therapy sessions and I’m working really hard on trying to roll, sit up and stand.
I find these tasks really challenging but I continue to improve.
When I’m not at therapy I smile a lot and shower my mum and dad with love and laughter.
My family is passionate about raising awareness of Lissencephaly and
we need your help. Thanks for stopping by and showing your support.
Love Owen – the young warrior.
Here is an insight into our journey so far…
Owen was born a healthy 3.140kgs and 50cm in length, For the first few weeks of Owen’s life he presented like any typical baby – breastfeeding and sleeping well. At around three – four weeks of age Owen woke up to the world, he was opening his eyes more and not sleeping so much. This was also when the crying began. Owen was very irritable and it seemed if he wasn’t sleeping or feeding, he was crying. At first, the doctors put it down to him being a newborn, then the possibility of an allergic reaction to breastmilk, then reflux, then colic.
After months of persisting with appointments but with no clear answers we noticed Owen wasn’t reaching the typical milestones of a baby. He didn’t smile for the first time until he was about ten weeks old when usually a baby starts smiling at around five weeks, and he remained upset and irritable.
At three months of age ,Owen’s paediatrician sent him for blood tests, urine tests and an ultrasound on his brain.
The ultrasound confirmed things weren’t ‘normal’. It showed that the ventricles in Owen’s brain were enlarged and the normal grooves and folds on the outside of his brain were missing. He was immediately referred for an EEG and MRI at Princess Margaret Hospital.
After an EEG and a lengthy MRI we met with Owen’s now neurologist Dr Lakshmi Nagaaran who officially diagnosed our baby boy with Lissencephaly and Double Cortex Syndrome.
We were told the future could look grim as he would be globally delayed he may never be able to hold his head up, sit, crawl, walk, talk, feed himself, look after him self and do anything that a typical child would do. We were also told his life expectancy would be shortened.
We were broken . It was devastating that all we imagined for our child and our life as a family was gone. Our journey as parents was about to take a totally different direction than what we had thought.
After Owen’s diagnosis he was admitted straight into the early intervention program at Princess Margaret Hospital where he began physiotherapy, speech and oral therapy, occupational therapy and hydrotherapy.
All of this to help give Owen the best possible start to life. Owen finished up therapy at PMH in April 2015 and now receives therapy from various providers.
Read more about what Owen receives now here
Credit: Ryan Murphy – Vargamurphy
After Owen’s initial diagnosis we were referred to Genetic Services of Western Australia
where Owen under went genetic testing. Owen’s array testing showed that he had a deletion or a bit
missing from the X chromosome at band 23. Thus he has an Xq23 deletion of approximately 0.7Mb in size.
This deletion encompasses three genes including part of the DCX gene.
The DCX gene is the gene associated with X-linked Lissencephaly and Double Cortex Syndrome.
It also includes PAK3 gene which is associated with X-linked mental retardation,
and the CHRDL1 gene which is associated with megalocornea (large corneas of the eyes)
and there may be other associated eye abnormalities which would increase the risk of glaucoma.
Further to Owen’s testing, us as parents were sent for our own chromosome array testing
to see whether we carried any similar abnormalities. As it was X-linked – the focus was more on mine as the Mother.
My array testing did not show this deletion and my routine chromosome did not show any translocation
or abnormality that would predispose to the deletion in Owen.
Thus, Owen’s deletion is a new abnormality that occurred in the egg that went to make him.
Due to this we have been told there would be a low chance of reoccurrence in another pregnancy.
We can not be given a 0% chance as we do know that germinal mosaicism can occur.
This is where there might be more than one egg with the chromosome X abnormality
and could result in another child having the condition. In addition there is a possibility of somatic mosaicism
(where you have the deletion but only in a very small number of cells and no it is not possible to identify).
Nevertheless, these possibilities would be quite small, most likely less than 2%.
We came to the conclusion that even though the very small chance, prenatal testing could be done on any further pregnancies.
It’s amazing all the things that need to line up perfectly to have a healthy child,
there we were thinking that genes just determined things like eye and hair colour.
Share in other children's journeys
Owen's Liss Buddies
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If you have a family member with Lissencephaly, and would like your story shared here, let us know.