A day in the life of a family of four with MECP2 Duplication syndrome
(written by Sasha Gersohn)
Waking up sounds like alarms beeping.
It’s time to change the continuous feed milk as our son, Zac, is fed through a GJ tube due to swallowing and reflux issues. Removing a bipap mask, providing respiratory support during his sleep, and charging the oxygen and heart rate monitor.
Then the day can begin…firstly, with medications to prevent reflux and improve iron levels.
Multiple therapies are scheduled for the day: occupational therapy for coordinating fine motor skills, physiotherapy for working on gross motor skills and strengthening the muscles, speech therapy for learning alternate ways of communicating and trying to improve swallowing skills.
Within a couple of hours all of the hard work leads to Zac’s exhaustion and grumpiness and the first nap of the day is needed for him…preferably in his bed with the bipap for a better sleep.
When waking again, it is time practising standing and moving around. We use the specialised equipment until it is nap time again.
In the evening, medications are given through the GJ tube. We use a nebuliser daily to prevent chest congestion. When it is bed time, we connect the bipap, the thumb splints providing open-thumb support during the night, the oxygen monitor and change the milk bottle for the third time that day.
If Zac is unwell, most of the days activities involve chest physiotherapy, extra nebulisations and nasal sprays to prevent pneumonia. If Zac has a cough we immediately use antibiotics – this may happen once every couple of months and symptoms of illness can take up to a month to disappear. On a 6-monthly basis, trips to the Children’s hospital are arranged to see specialists: neurologists, sleep specialists, pneumologists, gastroenterologists as well as the paediatrician.
Daycare is not an option..avoidance of people with illness and large crowds is always a must..so Zac requires home support or the care of a parent. This also limits what can be done as a family for fear of illness.
This is the day in the life of a child and carer dealing with MECP2 Duplication syndrome.
Waking up to our daughter sounds like footsteps running down the hallway, jumping on to our bed and giving us morning snuggles. Whispering to us how much she loves us and what she would like to do today. Her possibilities are endless. Swimming, bowling, playing in the park, spending time with school friends.
She doesn’t get tired or struggle to express her emotions. Sickness doesn’t worry her or us. Her future is bright, she is intelligent and fun, strong willed and loving. She has no health concerns. This is the type of day and future that we want for all of our children.
For caregivers, the constant thoughts about medications, therapies, illness and wellbeing are draining and stressful for carers.
The energy to play and the parent is taken away from siblings, while their guilt is always high. Breaks and holidays are always there to escape the hectic schedule of that everyday life. Communication with partners, friends, family or therapists is extremely important as a means of unpacking the feelings that come with having a child with special needs…
