Bastian was born in 2008 and is the youngest of three children. His older siblings are ‘typical’. Bastian was a happy baby who appeared to be in good health. We first noticed that something was wrong when he was about three months old. He was floppy and wouldn’t bear weight on his legs. Everyone just believed he was a late developer because he was lazy. We really had to push for help and so began our journey of hospital visits, blood tests, MRI scans, appointments, assessments, therapies and so on from about six months old.
Bastian is delayed in all areas. His muscle tone is low and this made standing, crawling and walking difficult. He wore a specially adapted safety helmet because he fell over so much. We began an intensive program of speech, occupational, and physical therapies. His speech wasn’t developing although he was noisy with sounds and shouts! He wore special boots to support his ankles. He finally walked just before his third birthday but speech continued to elude him. Bastian received his official diagnosis of Phelan-McDermid Syndrome at the end of 2013 after two years of genetic testing.
Sleep has been an area of difficulty since Bastian was born. In the early days, he was very similar to any typical new baby but as time progressed and with the developmental delays and communication difficulties, he soon developed sleep disorders. We would put Bastian to bed in a toddler bed with a bed guard to prevent him falling out but he wouldn’t sleep. He would lay awake for hours and frequently scream and cry. If he did fall asleep, he would then wake again crying and screaming. It was impossible to console him and because he couldn’t tell us what was wrong with him, we didn’t know if he was sick, in pain or having nightmares. The sleepless nights would go on and on, frequently waking the whole household. One of us would often spend the night with him in his toddler bed. Things started to get progressively worse after Bastian learned to walk around age three. Of course we were thrilled that he achieved this milestone but with this new skill, came new challenges. He was then able to maneuver himself around the bed guard and go wandering at night. I lay awake every night listening to each sound he made wondering what he was up to. We could close his bedroom door and keep him reasonably safe in his bedroom. We had to make sure sockets were covered and windows were locked and I was paranoid about the hundred different ways he might hurt himself in the night. When he learned to open the bedroom door, we used a stair gate. We were constantly playing catch up and adapting to new challenges and difficulties every day. Suffice to say, I didn’t sleep a great deal for the first five years of Bastian’s life!
Eventually when Bastian was about 4 years old and after seeing a clinical child psychologist, he was prescribed melatonin in the form of Circadin tablets. “Melatonin is an important hormone which is produced in our body during the night hours. It has many important functions as a signal to the internal biological clock in our brain, thereby allowing the adjustment of biological functions such as sleep, blood pressure and certain hormones with the night period. Melatonin production is inhibited by light and is diminished with advancing age and in some medical conditions.”
Circadin is a prolonged-release melatonin and is only available on prescription and is approved for treatment of primary insomnia. There are very few side effects. The only problem we found with the tablets is that Bastian had trouble swallowing them even when crushed. However we have since found another melatonin product called Kidmel which is available as a liquid and you will need to ask your GP for a prescription. Melatonin does not need to be used every night to work and it is recommended to take it for short periods at a time, not for long term usage. It’s a tool to shift sleep and circadian rhythms. We only use it when we feel it’s really necessary and can see the benefits. This is usually after an extended time of nightly crying and when Bastian hasn’t slept for a long time. It may or may not be a placebo effect but it’s always worth trying it to see if it helps.
However, what has made the most difference to our lives, was purchasing a custom made safety bed for Bastian. After extensive research, we found a product called the Tomcat Safeguard Bed. This is an amazing product and can be custom made for your own needs. We have the standard single high sided bed with a Visco-elastic pressure relieving memory mattress. The gate can be closed (and locked if necessary). Although the bed is very expensive to purchase, it is future proof and should last him into adulthood. It was part funded by friends and family and the rest of the cost was matched by the Newlife Foundation, a charity which supports disabled children and children with terminal illness. Although sleep is still an area of difficulty for Bastian, having the safety bed makes everything a lot easier. We practise good sleep hygiene techniques such as a warm relaxing bath before bed, dark room, no caffeine etc but if he is awake all night at least he is safe.
We are still experiencing new sleep challenges all the time. Bastian is doubly incontinent and wears pads day and night. Bastian started removing his pyjamas in the night. He often wakes up soiled and wet. One way we have got around this is by purchasing special sleepsuits which zip up at the back. These are available from several suppliers.
Difficulty falling to sleep and staying asleep is a fairly common problem in individuals with developmental disabilities and/or neurological dysfunction. Nearly half of all individuals with Phelan-McDermid Syndrome will experience problems with sleeping. This is also reported by the charity Unique.
If you are experiencing sleep difficulties, please do speak to your GP or Paediatric Consultant for advice.
Bastian is a happy, busy little boy. He enjoys doing jigsaw puzzles and playing with trains. He adores Thomas the Tank Engine and loves visiting train stations. His favourite snacks are bananas and he could eat them all day. He is very affectionate and loves cuddles. He still cannot speak but if you meet him, he loves to smile and will give you a high five!