Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. Meet Nate, a child we have supported at Hannah’s House who has a rare chromosomal disorder.
Age: 5 years
Primary Diagnosis: Edwards Syndrome/ Trisomy 18 Syndrome
Occurrence: 1 in 8,000-10,000 live births
More Info: http://bit.ly/2wdnGuJ
How was it for you as parents receiving the news your child was born with a rare chromosomal disorder?
We received Nate’s diagnosis of having the rare genetic disorder of Trisomy 18/ Edwards Syndrome when I was just 16 weeks pregnant after markers were seen in several ultrasound scans and receiving a positive result from an amniocentesis. Receiving the news was completely devastating, to say the least. It felt like our world and our hearts had shattered into a million pieces with that simple sentence voiced by the doctor delivering the news “your baby has Trisomy 18”. Our dreams for our second son came crashing down around us.
With the diagnosis, Nate was given a very bleak prognosis even before taking his first breath. The doctors told us that Trisomy 18 was “incompatible with life”. They cited statistics that 90% don’t even survive pregnancy and birth, and the 10% who do survive birth rarely live longer than a week, and only a very few may reach their 1st birthday if they are lucky. The doctors gave us the option to “interrupt” the pregnancy, but Leon and I couldn’t do that, we couldn’t terminate our already much-loved son. Instead, we decided to continue with the pregnancy and let Nate write his own story. And here he is, about to celebrate his 5th birthday next month!
How have you adjusted to Nate’s day to day care needs?
It has definitely been a long journey in adjusting our lives with all that Nate needs, catering our days to care for him, and I imagine it will continue to be a journey as his needs change and grow as he becomes older. He is non-mobile and non-verbal, so those challenges in themselves make caring for him and his needs very high. He is slowly meeting some milestones like he can now hold himself up in a sitting position for short periods of time, which makes tasks like dressing him and feeding him a little easier, but he is still very delayed in his development so his needs are still very high and unlike a typical 5 year old.
What does your life look like now – how are your days filled?
Nate needs a lot of hands-on care, he is very much dependent on us for all his needs. He may be nearly 5 years old, but he is like looking after an infant. He is fully dependent on us for bathing, dressing and feeding. He is non-mobile so there is a lot of lifting and moving him as he cannot do this himself. He is not toilet-trained and is in nappies so he needs regular changes throughout the day. He is non-verbal so communicating with him is very difficult, especially during times when he is upset and we cannot work out what is wrong: is he feeling unwell?; is he in pain?; or is he just frustrated and that’s why he’s upset and angry?
Our days are busy with him from the get-go, from getting him out of bed, feeding him breakfast, changing his nappy, getting him dressed for the day. Then Nate attends numerous therapy sessions and hospital appointments throughout the week, so there seems to be an appointment to go to nearly every day of the week. In the evening there’s bathing him, which as he gets older and bigger and becomes more difficult especially for me as I’m only 5 foot myself, so I imagine in the future we will need more equipment like hoists to help lift and move him, especially during bathing times when water is involved and the risk of slips and falls becomes higher.
And then there’s the bedtime routine, Nate isn’t a great sleeper so settling him down for the night takes time, and then he will wake on average 3 to 4 times a night where he can be awake from half an hour to an hour or two before we can settle him to sleep again. And then before we know it morning is here again and a new day begins! He does suffer from seizures, thankfully not consistently at the moment, but when they do occur there’s that additional care to ensure his airways are clear and he settles. He also is immuno-compromised so he can catch viruses and bugs very easily, and when he does, he can become very unwell very quickly and often needs hospital admission for oxygen and suction, and IV antibiotics, when he’s unwell.
How easy has it been to get the support you felt like you needed?
To be totally honest there seems to be no support from government agencies to help us with the care for Nate. We had asked multiple times in the past, putting our hands up saying we need help and asking for some assistance with caring for Nate, but always told that there’s no funding for such support. We are not in NDIS yet so maybe in the future that could change? We hope so. Instead, we have been so very fortunate to have had help from Hannah’s House in the past, and currently now.
How does Hannah’s House help to support you?
It’s amazing what a difference it makes to our week when we have someone come into our home for the day to help care for Nate, meeting his needs, thus allowing me a few hours to catch up on things like housework, run errands, do grocery shopping, and even “escape” the house for an hour or so to catch up with a friend for a coffee or go get a haircut, simple tasks that are often difficult when Nate is with me.
Caring for Nate’s high needs day in and day out is exhausting, and it continues into the night as he’s not a great sleeper, so I’ll be truthful in saying that it’s very hard and tiring, and can be depressing at times. But now just knowing I’m not completely alone and that for a few hours a week I have someone come into our home to help me with Nate has been a lifesaver, both physically as well as mentally and emotionally. Thank you Hannah’s House!!!
You can support Hannah’s House to help provide care, comfort and joy for children just like Nate.
Visit our donations page here.