OUR FAMILY CONSISTS OF:
A cheeky 11–year-old boy named Asher, myself (Alli) and my husband Liam, our Elijah who is no longer with us and our new kitten, Atlas.
WHERE DO YOU LIVE?
We live in a suburb of Sydney called Rouse Hill, close to Westmead Children’s hospital (about 20 mins) for Asher. We are currently very limited as to where we can live due to how quickly Asher can ‘crash’ and go into septic shock. Thankfully though we LOVE Rouse Hill!
WHAT IS YOUR CHILD’S DIAGNOSIS AND HOW DOES IT AFFECT THEM?
Asher has a life-limiting and often very life- threatening syndrome called MECP2 duplication but he is not boxed by that diagnosis. We were told that he would never walk or talk and that it was likely that he wouldn’t make his 5th birthday. Today, at age 11 he has 43 words and walks holding our hands or using a Kaye walker and he continues to achieve things we were told he never would.
As part of his MECP2 duplication syndrome Asher has global development delay, hypotonia, dystonia, a compromised immune system, chronic constipation, dysphagia, he is unable to regulate his body temperature and he has autism and epilepsy. Just to keep things interesting he also has severe anaphylaxis to egg! He is a real cheeky chops and loves washing machines, dryers, cooking and watching YouTube Kids.
WHAT LED TO THE DIAGNOSIS?
This is a really hard one for me and I always need to take a deep breath before answering this question, but if sharing our journey helps one person then it is more than worth it.
Asher had a beautiful big brother named Elijah (Lijey); our boys were 16 months apart as we wanted them to grow up close and be mates. Both pregnancies were miracles as due to severe stage IV endometriosis we weren’t sure at all if we could have children naturally.
Elijah was born a few weeks early due to pre-eclampsia and had some difficulty feeding (he had no suck reflex) and ended up in the NICU. He would cry up to 17 hours a day and would only settle when I stood him in front of the venetian blinds (he LOVED stripes!).
He wasn’t hitting developmental milestones and I became worried (mums, always trust your instincts). After two paediatricians who dismissed our concerns we found one that would listen to us and we were referred to a geneticist. After running all the tests available we were told that he may have some genetic abnormality but his diagnosis was most probably autism and global development delay.
We started early intervention with Elijah which connected us to so many other parents, it was like a whole new world had opened up to us. These parents got it and we weren’t the odd ones out.
Then, on February 27, 2008 our world came crashing down. After one of our regular paediatrician appointments, which we returned from with no major issues or concerns, Elijah passed away in his sleep that night.
Nothing can prepare you for the pain of losing a child this way and my heart still hurts today. Elijah’s brother, Asher, was a baby at this stage and without him I’m not sure I would have been able to get up in the mornings. That period was a blur of tears, flowers, cards and unanswered questions. We waited agonising long months to find out what had happened to our beautiful boy but no one had any answers for us.
Then one afternoon I received a call from the genetics office Elijah had been to. A new test (CGH array) had just become available in Australia; they wanted to know if they could run a sample of Elijah’s DNA and I told them to go ahead.
I had started to notice a few behavioural similarities to Elijah in Asher who was then 8 months old but doctors felt it was just my grief talking. I persisted and took him back to the doctor and demanded they assess him again.
The doctor we saw took a deep breath and said that he had literally just received the results of the genetic test I had agreed on and there was a result….
This was when my world came crashing down for a second time as I heard the term MECP2 duplication syndrome. The first words I could get out of my mouth were “Asher?”. The doctor said that this genetic condition was X chromosome linked and that Asher had a 50 per cent chance of having the condition that took my first son’s life. He told me he had to Google the condition. handed me a print out he had found on the internet and said “well, now you know as much about the condition as I do”.
I felt so alone; there were only 80 known cases of the syndrome in the world and none in Australia at that time. This was when the doctor told me that Asher, if he had the same condition, would never walk or talk and would be unlikely to make his 5th birthday. I remember leaving the room and just sitting in the toilet cubicle sobbing and throwing up.
Fast forward to the day the results came in and I could tell by the look on their faces, Asher had been diagnosed with the same condition too.
IS YOUR CHILD IN SCHOOL? HOW ARE THEY DOING/HOW ARE THEY SUPPORTED?
Asher loves “gool” as he calls it and asks to go even on weekends sometimes. He is at a special school called ‘The Ponds’ and goes five days a week. He has begun to use 2-3-word sentences and won the school communication trophy last year. He is in a class of six made up of medically complex students with one teacher and one support worker, has a bestie called Neil and a girlfriend called Caitlin who blows him kisses and always wants to hold his hand. Asher’s still playing hard to get, I’m not sure he’s into the whole girl thing yet!
WHAT THERAPIES DOES YOUR CHILD DO? DO YOU HAVE ANY TIPS/TRICKS FOR FITTING THERAPY INTO YOUR LIFE?
Asher has physiotherapy, speech therapy and occupational therapy. It has just become our routine and rather than doing big blocks at a time we break it into bite-sized pieces and follow what the therapist suggests in our everyday lives, applying it to things that Asher loves; for example using the PODD system on Asher’s iPad, we are continually expanding the vocabulary on it and Asher uses it to express his feelings/wants/ thoughts throughout the day rather than a block of time where we just sit and use it at a table. He requests ice-cream a lot!
WHAT CURRENT GOALS DOES YOUR CHILD/FAMILY HAVE?
To live and value every moment and celebrate life – never take a second for granted.
Asher is currently working on time toilet training and he’s doing really well, his other current goal is to help assist with getting dressed.
WHAT ADVICE WOULD YOU GIVE SOMEONE STARTING OUT ON THE SPECIAL NEEDS JOURNEY?
You are not alone. There is a whole community of support there to do this journey with you who will also ‘just get it’. Find a local group, Facebook group, connect with other SN parents. And nothing is impossible, don’t let your child be put in a box just because of a diagnosis – it doesn’t change who they are.
WHAT’S THE MOST ANNOYING/ UNHELPFUL/STRANGE ADVICE YOU’VE BEEN GIVEN?
I could write a book on this one! I once had a lady say “oh well at least you still have one left” referring to Asher. And a doctor once said to me when Asher was in hospital “I heard your son went (insert raspberry noise) and there’s every chance this one is going to go (insert raspberry noise) too”. Needless to say, a formal complaint was made by us and the nurses and he is never allowed to see or treat Asher!
We have an idiot of the week award going at our parents’ group where we share ‘war’ stories and laugh them off. Some people won’t get it – don’t waste your time on the ones that aren’t going to believe in your child and champion them.
WHAT DO YOU DO FOR ‘YOU’ TIME?
With the NDIS, Asher has been given a carer so for the first time in over 10 years I have been able to go back to work part-time. My husband and I launched a project with Rouse Hill Salvation Army called CSC (connect, support, build community) where I work directly with families with medically complex children or families of children with disabilities. I love my job, so far, we have run inclusive Christmas carols, inclusive and switch adapted cooking programs for families every week, a parent support group called ‘Tribe Parents’, hospital visits, home visits, meals for families at short notice, bereavement support and financial support towards medication costs.
In my spare time I love spending time with my boys; Liam and Asher are my world and I love doing life with them. We often take day trips up to the Blue Mountains together and it is so lovely being in nature and all the cute shops of course!
WHAT ARE YOUR HOPES FOR THE FUTURE?
A cure for MECP2 Duplication syndrome.
WE WOULD NEVER MANAGE WITHOUT THE FOLLOWING:
Products we love:
• iPads and wifi!
• Molicare nappies
• Lucas’ pawpaw ointment
• Asher’s ‘Hannah’ safe surround bed
PEOPLE (OR BUSINESSES) WE LOVE:
- Asher’s grandparents – they are his favourite people
- Source Kids – we LOVE everything they do and the connection, resource and inspiration they create
- Wonsie – these are so essential for Asher and the quality is great, I love the ones with the snap button for Asher’s quick tube feeds.
- SAMI activity monitor has literally been a life saver!