November 2019

Venetia  is a determined, sociable, happy, loving 9 year old girl.   She lives at home with her Mum, Dad and brother.  She loves being at home with her family.  She has 2 little dogs called Oscar and Arnold who she will kiss, pull or bite their tails and generally love (terrorise!). She loves her cousins, her brother Aston, her mum and dad and her family. Her interests include playing with toys, watching YouTube on her iPad, and looking through books. She likes blankets and getting cosy, she loves babies and enjoys playing with other children.

She spends one day a week (Sundays) with a support worker (her OT and her family) where she explores the outdoors, doing things like horse riding, swimming, girl guides and attending lots of fun events.

This family is like a second family to her and a huge support to our family.

She attends before and after school club and loves her friends Morgan and Callum. She will laugh if you talk about these boys!

Venetia is learning to use the toilet consistently. She needs prompting and still wears pull-ups, but we’re getting there!

Since I wrote my last family update 7 years ago, life has been a rollercoaster to be honest.

We started her at a mainstream kindy at age 4. It did not go well. Venetia was still crawling and the school was not set up or trained to support a child with special needs. It was disheartening and we felt we had been discriminated against. I removed her from that school after 1 term and some robust conversations, and took her to a wonderful education support centre that is literally a special school that was run within a mainstream school. I am eternally grateful to that school for welcoming Venetia with open arms. She was carried in and within 6 months she was walking. The staff encouraged her to lean on furniture they placed around the room and to walk places – no crawling allowed. That, coupled with hippotherapy (horse back) she built up the core strength to walk on her 5th birthday.  This was an exciting time for us! Over the last 4 years she has become stronger and stronger and now rarely falls over!

School also facilitated introduction of a robust alternative communication device – PODD book. Key word sign was also encouraged and Venetia uses these two methods along with her words to get her point across. We continued to access therapy in the form of physio, OT and speech.  Both through the school and privately.

The last year has been the best we have seen with Venetia.  Before that Venetia’s behavior was challenging.  She was so frustrated not being able to communicate well that she reverted to self-injurious actions such as head banging, punching herself in the nose and pinching and scratching others. This past 12 months we have not seen any pinching or scratching of others and the self-injurious behavior has reduced a lot. I think it is because she can communicate better and is maturing.  She continues to be a handful when we take her out and about. Venetia is disinhibited and will frequently approach unknown people when in a social or community setting.  Venetia appears to have less control and regulation over herself when in the community, strongly relying on 1:1 supervision to ensure her personal safety due to her unpredictable behaviour at these times.

This year we have moved house and she has settled in well. We have noticed that she has made some strong friendships and connections with mainstream students so we have taken the big leap of faith and decided that in 2020 she will change to our new local mainstream school – Year 4 class. This is daunting and scary but at the same time, Venetia has developed so much since that first experience of a mainstream setting and we hope that she will learn and grow even more with the this new class.  She is extremely socially motivated and if all goes well she will create new friendships and her peers can model good behavior and communication to her.

In the past, Venetia would often get overwhelmed at Christmas and birthdays so we couldn’t make a big deal about Santa or sing ‘Happy Birthday’.  However this year she successfully celebrated her 9thbirthday with a party at McDonalds with her school and day care friends all in attendance.  I expect Christmas to be a positive experience this year if last year’s was anything to go by. She wanted the presents to flow continually throughout the day and went as far as opening everyone else’s!

Venetia is a pleasure to my husband and I as she’s almost always by our side. She reaches over and holds your hand when you’re driving and smiles sweetly at us. She gets into our bed (after coming down a long flight of stairs independently) and falls back to sleep right when we need her to get up and get ready for school! She is sweet and happy and always very hungry!  We are excited about the next few years and look forward to seeing her go from strength to strength in the new school setting.

See gallery of recent (2019) images below.

Beginnings

It was January of 2010 that my husband Paul and I thought it was about time to give our cherished son Aston a sibling. He was 5. We knew he would make a kind and caring brother….. who knew he would have a sister that needed that kind of love and support so much….

Although this story is not about Aston, it is important that I record our history with him as a background to Venetia but also because I have never really documented it for him to read as an adult. When Aston was born, he was immediately diagnosed with a very rare condition called Neonatal Alloimmune Thrombocytopenia (big word… I know…. Try spelling it!) Basically my antibodies were destroying the baby’s platelets, leaving him with a platelets count of 3, normal count should be somewhere around 150 if my memory serves me correctly. He was rushed to intensive care at Princess Margaret Hospital in Perth and given platelets transfusions.

After each transfusion they would put another tiny needle in his even tinier veins to sample the blood and determine if the platelets were increasing in volume. They would increase after the transfusion for 12 hours or so then drop back down. Eventually Red Cross found a platelet match in a person on the other side of Australia, and thanks to his many donations, our baby, only days old, managed to avoid any disastrous bleeds in his brain or other organs . After 7 days in intensive care he was returned to me at Mercy Hospital where we spent another 5 days (still receiving transfusions) and went home to our family on Xmas eve. We would go back to hospital for 5 or so more weeks after that to receive transfusions, with longer breaks in between until eventually Aston’s platelets increased on their own and we did not need any more horrible needles. His feet, arms, hands and head were all bruised and shaved! In order to administer the platelets and antibodies. 🙁

The unusual condition, known as NAIT, is undetectable until birth and effects any future pregnancies more severely, so we were offered counseling and hence the delay in deciding to have another child.

By the time I was pregnant with Venetia, treatment for NAIT had become less invasive. I was treated from 20 weeks with weekly replacement antibody infusions and regular scans. At 35 weeks they noticed the baby was not growing as it should. So she was delivered at 36 weeks and 6 days. I was happy they delivered her early because I didn’t like being pregnant that much but also because I was impatient – I wanted my baby! Had I realised at the time, I would have wished she stayed in and grew.

As expected, her platelet count was low – 7. She weighed only 2230 grams and needed resuscitation (not a great moment to think back to) She was taken to the special care nursery and given antibody infusions and a platelet transfusion over the coming 10 days. She was tube fed for the first few days as she was having difficulty feeding. She was also jaundiced and was experiencing several dusky episodes.

I persevered with breastfeeding her in hospital – a shield eventually made it a little easier for her but it just seemed that she would choke easily. She stopped breathing after a choking episode at one point and was whisked away by a nurse and given oxygen. Venetia was also born with cardiac anomalies – one of them will require surgery when she is older (a VSD).

Eventually we took her home – she was tiny. I remember strangers would gasp when they saw us holding her in public. Our son was a big chubby baby so it felt strange. She did not feed well and she continued to choke often- I tried to breast feed her for the first few months but when she wasn’t putting on weight I was advised to give her top up feeds of formula. It became apparent that she preferred the bottle and after expressing for several months, I eventually succumbed to bottle feeding (not that I have a problem with that – It was that I enjoyed breast feeding my son and found it easy, it seemed a shame not to be able to do the same with Venetia). Her weight gain was slow and her screaming was loud! After a few days she became more and more unsettled. Eventually she screamed almost 20 hours of the day. She was suffering from severe reflux and there wasn’t a lot we could do to help her.

In the first 3 months things were tough. The dusky episodes continued at home and we were asked to come to the hospital for child resuscitation training. Venetia was so tiny and so unhappy. We had episodes where she would turn blue in her car seat. Apparently because of the angle of her neck was making it difficult for her to breathe. Eventually I got to a stage where I didn’t want to go out. We spent hours and hours trying to comfort her but all she did was scream… It was heartbreaking and disappointing. 🙁

I had some very helpful mums from Aston’s school who gave me support and advice. I was recommended to a local doctor who specialised in women and babies. After seeing her for several weeks she eventually sent us to PMH for tests as she agreed something was wrong. I’d had experience with babies and it was apparent that I was not wrong to suggest that there was a problem with this wee one.

After all sorts of scans and test later we were discharged from hospital none the wiser. I knew in my heart there was more to find out. The pediatrician left a lot to be desired in the way of a bedside manner but we attended the follow up appointment 3 weeks later none the less. The genetic testing that had been done showed Venetia tested positive to Cri Du Chat Syndrome. The doctor had never seen a case of this before and she proved this by Googling Cri Du Chat on her computer and then turned the screen to show us the pictures that came up of other people who clearly suffered the same syndrome. This was shocking and unbelievable to me. In short she brushed over it saying we could expect some large orthodontic bills and some learning/behavioral difficulties for Venetia in the future. Goodbye. I promptly discharged Venetia from that woman’s services after a few other issues which are not even worth me typing! Say no more. 🙂 Venetia was 4 months old.

We were alone then.

There was some relief because at least I knew I hadn’t been crazy and at least now I could research and find out how to help my baby. But the main thing I remember is grief. My husband took it remarkably well. I suppose I did too but it was awful at the time. I had to let go of the image in my head that I had for Venetia and all the plans and visions for her. I had to accept this ‘other child’. I didn’t want that child I wanted the one I thought I was getting (I know that sounds terrible but that’s part of the story). I was torn because she was still my child and she needed me more than anything. I also didn’t want my son to have to bear the burden of having a sibling with special needs. It felt like we’d been punished.

As time went on things got easier – as it always does. When I look back in time Venetia has made amazing progress. But it’s not until you really think about what she couldn’t do this time last year and now what she can do that you realize and appreciate her achievements. Aston has also been remarkable. He loves her to bits and is ever so caring and loving towards her.

As soon as she was diagnosed we started using key word signs as much as possible. I took her to a pediatric physiotherapist every week while we waited to be accepted into disability services early intervention provider. This happened one year later. We continued to see the feeding team at Princess Margaret Hospital which helped us with Speech and Occupational Therapy and introduced us to other families. We realized then how lucky we were – Venetia was a bright, alert and happy baby. She mimicked people which made us happy. She loved books and faces. While her feeding improved, she was still tiny but it didn’t worry me because I knew so much more about the syndrome, I knew it was normal. I would add cream and butter to all her solid foods and give her chocolate and increased calorie milk. She got quite a few upper respiratory infections in that first 15 months that landed her in the emergency room once or twice.

This last year she has had a wonderful physiotherapist who currently takes her in the pool once a week. She’s gone from laying on her back all the time to now sitting up independently, ‘commando style’ crawling and just recently getting up on all fours. I am hoping soon she has the strength to pull herself up onto couches etc. Venetia has also been working with a speech pathologist and she can say “tickle tickle”, “mum” “dad” ” bra bra” for brother, “woof woof” and a snorting noise for a pig!!. Her signing took a while to come and even now she is temperamental with it. But she can sign ‘more’, ‘milk’, ‘food’, ‘bird’, ‘dog’, ‘time to go’ ‘home’, ‘phone’, ‘bed’, ‘school’ most of her aunties and uncles, and several others.

Her Occupational Therapist is lovely and always thinking of ideas to help Venetia. We are currently working on feeding herself independently with a spoon…. but it’s a messy affair! We have ordered a standing frame which should arrive soon. Venetia also loves the iPad.

I discovered a school that runs Conductive Education parent and child classes. We have been going for 2 terms. I can’t recommend it highly enough. In my opinion it has progressed Venetia’s development 10 fold. She can sit unaided at the little table with her friends, she tries to sing along to the songs, she waves hello and goodbye and so much more. She now knows the actions to lots of nursery rhymes and although she protests at school and tries to wriggle away, I’ve since seen her watching play school and joining in with the actions when no one is watching! Ha ha! I’ve seen her personality evolve since going to the classes twice a week. She’s funny! She makes everyone laugh 🙂 The teachers and staff are also a huge source of support and information. We are starting to use a PODD book at CE as a means of communication which is exciting and daunting at the same time.

I’m excited to see Venetia enjoy Christmas this year as she is stronger and bigger and more able. She is adored by all of her family and friends and I know what people mean when they say a child with Cri du Chat is valued and well liked within their community. We don’t know what will happen regarding school at this stage but I am trying to not look that far ahead.

Lately Venetia has been unsettled and grizzly, but I think it’s because she can’t get her body to do the things she wants… While other 2 year olds are running around and jumping she’s often strapped in her pram or lying on the floor. 🙁 We are trying our best to involve her in as many normal activities that we can. She is going to go to daycare one day a week next year which will hopefully help.

In closing, this has been the most difficult 2 years of my life, but I truly believe the worst of it is over and our family has been sent Venetia for a reason. She has taught us all so much already and we are excited to see her meet her milestones and charm everyone along the way!