Stories with soul: Source Mamas raising their kids with disabilities. The tears, the triumphs, the raw and the real.
How did you first become aware that there might be a concern about your child’s health or development?
Tim was very sick at 2 weeks old with a bowel infection. At 4 months old, he was considered failure to thrive. At 13 months old, he had surgery for strabismus (where both eyes turned out). He was my second child and I noticed he was delayed in all areas but I thought it was his rough start to life and he just needed to catch up. Then I noticed he never babbled or made any cooing noises but was constantly happy and smiling.
It wasn’t until we had a visit from a friend who was a physiotherapist and worked with kids with disabilities, who was brave enough to suggest that Tim might have Angelman syndrome. That led us to seek genetic testing and we received the diagnosis at 18 months old.
Can you tell me a bit about the diagnosis your child received.
Tim has Angelman syndrome, which is a deletion of the UBE3a gene on chromosome 15. Most children are globally delayed, struggle with speech and in most cases, don’t speak. Tim communicates such as gesture, body language and AAC (augmentative and alternative communication – a PODD book).
Children with Angelman syndrome also have an intellectual disability, most have epilepsy, huge sleep challenges (just like a newborn or sometimes worse), and a balance disorder. They generally have a happy demeanour and this is true of Tim, he is always smiling or laughing.
Tim can walk but only short distances. He is extremely food motivated, in such a strong way that we need gates to our kitchen so he can’t access the fridge and pantry. He doesn’t know when he’s full and will eat till he vomits. With all of these challenges, it’s hard for Tim to participate in every day life with his siblings or peers without adequate support.
How has the diagnosis impacted your family dynamics and daily routines? Have there been any specific challenges or adjustments you’ve had to make to support your child?
My oldest son, Josh, 14, has had to step up and be responsible and mature far beyond his years. He is Tim’s other carer besides us. His little sister, Lilli, 8, also helps take care of her big brother. They’ve learnt how to stay calm during seizures, how to administer medication, how to change nappies, how to prepare his food and so on. They are becoming such compassionate and kind people.
We try our best to spend dedicated time with each child (including Tim) to stay present and involved with them. We don’t want them to think that our lives revolve around Tim and his needs. Sometimes Tim’s disability means we need to miss out on certain events or outings because Tim can’t participate but we generally lead a normal life and take Tim with us everywhere we go. We still go out to eat, attend church each Sunday, go on hikes or bike rides. We just make adjustments so Tim can participate.
He requires 24/7 care so we are constantly on alert even at home, about where he is and what he’s doing. Since Tim cannot speak, if we call his name, he can’t answer us and also he wouldn’t be able to call us if he needed to. So one of us is always required to be with him. He loves to escape out the front door so it needs to be dead locked at all times. His sleep challenges mean we are constantly sleep deprived but my husband and I are a great team and the one with more energy will always support the one with less.
What kinds of treatments, therapies, or interventions has your child been receiving? How have these approaches helped your child’s development and well-being?
Tim receives speech therapy, physiotherapy and occupational therapy. When he was young, he attended ECDP (early childhood development program) and then started special school. He transitioned to mainstream school in year 2 with a 1 on 1 support. Being in mainstream has made a huge impact on his development. He is well known and well liked at his school and not only has it been great for him, but it’s also been great for the school community to have him there. They have worked hard on changing the meaning of inclusion and how to make adjustments for students like Tim in their classrooms.
He loves being able to go to school with his little sister. He gets a lot of peer modelling throughout the day such as staying seated at his desk, lining up with the class, sitting in assembly and so on.
As a parent, what are your primary concerns and hopes for your child’s future in light of their diagnosis? How can those around you offer support during this time?
There are therapeutic treatments that are currently in clinical trial and many more that are being developed, to cure Angelman syndrome. My hope is that one of these treatments would help ease Tim’s challenges so he can participate in the community and contribute to the community one day. I want Tim to be accepted and know that he doesn’t belong in just the disabled community, but he belongs everywhere.
The best support for us would be for those around us to love Tim and get to know him. Involve him and talk to him directly. If they want to support us as a family, check in with each of us to see how we’re going. Continue inviting us out even if we say no, let us complain sometimes about how tired we are and there’s always laundry to fold!