Our Story
We'd been married a couple of years, done heaps of travel now settled back in our home country and decided it was time to start a family.......
November 2004 after losing our 3rd & 4th little angels way before their first breath, we'd had enough. Testing for this that and the other we decide to go IVF thinking our chances would be better - but no such luck. Then in 2006 our gorgeous boy was born. We treasured every moment of his little life. He slept very well, cried only for a purpose but started these "breath holding" episodes around 3 months. He'd cry so hard, his little skinny body would go rigid, he'd turn blue and pass out. Then when his body was relaxed, he'd catch a breath and be all floppy, but breathing. I wanted to video what happened so others could see, but I would dissolve into tears and just hold him. This went on every couple of days, then down to weeks and finally when he was two years old they stopped. We had to watch where he was at all times as he'd crash to the floor unexpectedly. The Doctor said that there was nothing wrong and he'd grow out of it. Looking back now we think they stopped because his vocabulary started to develop.
During this time we decided that it would be nice to have another child .... three more miscarriages later and by now we'd got a diagnosis for Flynn, we decided at this point that it was too heartbreaking to continue. Some of the babies that we'd lost were diagnosed with varying chromosomal disorders, none of which were ever the same, others were fine. There is speculation that I could perhaps have reproductive cells carrying a balanced or unbalanced translocation. You could say we were a unique case... Those who have been down this path know that it is not possible to test for every known chromosome disorder, just a collection.
So around 18 months Flynn was diagnosed using a test called a Agilent 44K Array, a little more complicated than the standard DNA testing. So we have this report, now what does that mean and what do we do?
If you checked the links on related diseases with the relevant chromosome disorders you'll fall over as there is so much information. So we treated what we knew and are mindful of the rest.
We started intervention very early with Speech, Physio and OT. His speech was quite delayed, he walked with a wide gait, rolled ankles and had tucked in thumbs. He was also 'low tone' or floppy so was happiest on the floor. The low tone impacted his speech as he dribbled and was very oral with his hands or any object for that matter.
Some of his early characteristics:
He was a great sleeper but rarely slept in the car.
We did a couple of road trips from NSW to QLD (13 hrs) and he'd sleep half an hour max!
He was always hungry - didn't know when he was full.
Dislikes loud noises.
Not ticklish or a cuddly baby.
Didn't babble - made noises around 15wks.
Always likes to be busy.
Didn't start walking until 18 months, he did the commando crawl and was very proficient at it.
Loves spinning and being hung upside down
Never bumped into anything very spatially aware, however no concept of road danger or strangers.
Then as he became more vocal and upright:
Sensitivity to types of fabrics and clothes labels.
Has very small pupils for the majority of the day.
Dislike to certain textures of foods.
Requires a more structured routine.
Lacks reasoning.
Unaware of others personal space - very cuddly and loving.
Dislike to certain toys/animals.
Could navigate his way into the highest kitchen cupboard by dragging the closest object to climb on.
Very good upper body strength in arms and a great climber - very strong!
Requiring more rumble time - or self regulation.
Incredibly inquisitive.
Loves his face being squashed.
November 2004 after losing our 3rd & 4th little angels way before their first breath, we'd had enough. Testing for this that and the other we decide to go IVF thinking our chances would be better - but no such luck. Then in 2006 our gorgeous boy was born. We treasured every moment of his little life. He slept very well, cried only for a purpose but started these "breath holding" episodes around 3 months. He'd cry so hard, his little skinny body would go rigid, he'd turn blue and pass out. Then when his body was relaxed, he'd catch a breath and be all floppy, but breathing. I wanted to video what happened so others could see, but I would dissolve into tears and just hold him. This went on every couple of days, then down to weeks and finally when he was two years old they stopped. We had to watch where he was at all times as he'd crash to the floor unexpectedly. The Doctor said that there was nothing wrong and he'd grow out of it. Looking back now we think they stopped because his vocabulary started to develop.
During this time we decided that it would be nice to have another child .... three more miscarriages later and by now we'd got a diagnosis for Flynn, we decided at this point that it was too heartbreaking to continue. Some of the babies that we'd lost were diagnosed with varying chromosomal disorders, none of which were ever the same, others were fine. There is speculation that I could perhaps have reproductive cells carrying a balanced or unbalanced translocation. You could say we were a unique case... Those who have been down this path know that it is not possible to test for every known chromosome disorder, just a collection.
So around 18 months Flynn was diagnosed using a test called a Agilent 44K Array, a little more complicated than the standard DNA testing. So we have this report, now what does that mean and what do we do?
If you checked the links on related diseases with the relevant chromosome disorders you'll fall over as there is so much information. So we treated what we knew and are mindful of the rest.
We started intervention very early with Speech, Physio and OT. His speech was quite delayed, he walked with a wide gait, rolled ankles and had tucked in thumbs. He was also 'low tone' or floppy so was happiest on the floor. The low tone impacted his speech as he dribbled and was very oral with his hands or any object for that matter.
Some of his early characteristics:
He was a great sleeper but rarely slept in the car.
We did a couple of road trips from NSW to QLD (13 hrs) and he'd sleep half an hour max!
He was always hungry - didn't know when he was full.
Dislikes loud noises.
Not ticklish or a cuddly baby.
Didn't babble - made noises around 15wks.
Always likes to be busy.
Didn't start walking until 18 months, he did the commando crawl and was very proficient at it.
Loves spinning and being hung upside down
Never bumped into anything very spatially aware, however no concept of road danger or strangers.
Then as he became more vocal and upright:
Sensitivity to types of fabrics and clothes labels.
Has very small pupils for the majority of the day.
Dislike to certain textures of foods.
Requires a more structured routine.
Lacks reasoning.
Unaware of others personal space - very cuddly and loving.
Dislike to certain toys/animals.
Could navigate his way into the highest kitchen cupboard by dragging the closest object to climb on.
Very good upper body strength in arms and a great climber - very strong!
Requiring more rumble time - or self regulation.
Incredibly inquisitive.
Loves his face being squashed.
We were handling things okay so decided to try for another child, however in 2009 we had yet another miscarriage with another different chromosome disorder! By the way did I tell you that both my husband and I have been tested and nothing unusual came up with either of us.
Hardest period so far: 13 to 18 years.
Highlight: When he says the most beautiful things to people.
Such as when he said to a family friend who was dying from Leukaemia “I wish I could give you some of my energy”
So.... Flynn is our only child, not for the lack of trying, and we aim to give him the best opportunities that we can. If he can socialise and communicate with regular kids then that is a brilliant start.
Hardest period so far: 13 to 18 years.
Highlight: When he says the most beautiful things to people.
Such as when he said to a family friend who was dying from Leukaemia “I wish I could give you some of my energy”
So.... Flynn is our only child, not for the lack of trying, and we aim to give him the best opportunities that we can. If he can socialise and communicate with regular kids then that is a brilliant start.