Family testimonial: the Gersohn family

A day in the life of a family with MECP2 gene duplication syndrome

(written by Sasha Gersohn)

In the morning, the alarm sounds. 

It's time to change the continuous feeder, as our son, Zac, is fed through a GJ tube due to swallowing and reflux problems. We are removing a bipap mask, which provides breathing support while he sleeps, and recharging the oxygen monitor and heart rate monitor.

The day can then begin... first with medication to prevent reflux and improve iron levels.

A range of therapies are planned for the day: occupational therapy to work on fine motor skills, physiotherapy to work on gross motor skills and strengthen muscles, and speech therapy to learn other ways of communicating and try to improve swallowing skills. 

In the space of a few hours, all this hard work leaves Zac exhausted and grumpy. He then has to take his first nap of the day... preferably in his bed with the bipap for a better night's sleep. 

When you wake up, it's time to practise standing up and moving around. We use the specialised equipment until it's time for the second nap. 

In the evening, medication is administered via the gastrointestinal tube. We use a nebuliser every day to prevent lung congestion. At bedtime, we connect the bipap, the thumb splints that support the open thumb during the night, the oxygen monitor and change the milk syringe for the third time that day.

If Zac is unwell, most of the day's activities involve chest physiotherapy, extra nebulisations and nasal sprays to prevent pneumonia. If Zac has a cough, we use antibiotics immediately - this can happen once every two months and the symptoms of the illness can take up to a month to disappear. Every six months, visits to the children's hospital are organised to see specialists: neurologists, sleep specialists, lung specialists, gastroenterologists, as well as the paediatrician. 

Day care is not an option, as sick people and large crowds must always be avoided, so Zac needs support at home or the presence of a relative. It also limits what you can do as a family for fear of infection. 

This is the daily life of a child and a carer faced with MECP2 gene duplication syndrome.

When our daughter wakes up, we hear footsteps running down the corridor, she jumps on our bed and cuddles us in the morning. She whispers how much she loves us and what she'd like to do today. Her possibilities are endless. Swimming, bowling, playing in the park, spending time with her friends at school. 

She doesn't get tired and has no trouble expressing her emotions. Illness doesn't worry her and it doesn't worry us either. Her future is bright, she is intelligent and fun, strong-willed and loving. She has no health problems. This is the kind of day and future we want for all our children.

For carers, the constant thoughts about medicines, therapies, illness and well-being are exhausting and stressful. 

The parent is deprived of the energy needed to play with the brothers and sisters, and always feels guilty. Breaks and holidays must be planned to escape the hectic pace of daily life. Communication with partners, friends, family or therapists is extremely important to unpack the feelings that come with having a child with special needs...