To help raise awareness of Angelman Syndrome, The Angelman Syndrome Foundation has suggested 15 ways to get involved. The Firefly Garden is doing its bit to help raise awareness by sharing the facts of Angelman Syndrome and Logan’s story.
Now for the science bit, Angelman Syndrome is a rare genetic disorder first described in 1965 by Harry Angelman, an English Physician.
Features of Angelman include a happy demeanour, easily provoked laughter, developmental delay, affinity for water, sleep disturbance and mouthing of objects.
• Deletion of the AS critical region on maternal chromosome 15q11-q13 (the most common type).
• Paternal uniparental disomy (UPD) for chromosome 15.
•An imprinting defect causing lack of expression of the maternal copy of UBE3A.
• Mutations in the maternally inherited copy of UBE3A
For many people reading this the genetic causes of Angelman Syndrome will mean very little.
They don’t tell us the challenges (and highlights) of raising a child with Angelman Syndrome.
‘Logan was our much anticipated first born child. He was induced at birth and he struggled to latch on so was slow to feed.
He was kept in intensive care for his first six days to help regulate his blood sugar levels. I never felt overly worried and we were reassured this was quite common.
A tongue tie was suggested as a reason for the slow feeding. Logan soon came home and we settled into life as a family.
Having a new baby in the house is challenging at any time but Logan had particularly bad reflux and digestive problems, which themselves are associated with Angelman Syndrome.
But of course many little babies suffer similar problems.
As the months went on I discovered the words ‘Developmental Milestones’, and it soon became apparent to me that Logan wasn’t meeting his developmental milestones.
I was a first time mum with very little experience of babies and young children so I wasn’t overly sure what to expect but at six months he wasn’t attempting to sit up.
Logan wasn’t seen by a Health Visitor, his weight was charted incorrectly so it appeared he was putting on weight when he wasn’t. His reflux and digestive problems were seen as a single issue.
He was charted as having a small flat head again another characteristic of Angelman Syndrome.
None of these things were put together.
After many visits to our GP, Logan was eventually referred to a Paediatrician for ‘failure to thrive’ at one year old.
With hindsight he might have been having these seizures for a much longer period of time but they hadn’t been apparent to me.
While we were waiting for a referral to a different hospital for an EEG, my sister shared with me an article about Colin Farrell and his son.
His son James has Angelman Syndrome and I immediately related to the description of James outlined in the article.
I began to do my own research and was shocked to realise that Logan ticked the box for every single characteristic of Angelman Syndrome.
I showed the article to our Paediatrician and it was agreed that we test Logan for the syndrome.
During our wait for test results, Logan had his EEG and I explained my thoughts around Angelman Syndrome to his Neurologist.
The results shows a classic Angelman pattern of seizure activity and the Neurologist said he would give Logan a ‘clinical diagnosis’ based on the EEG if the genetic testing proved inconclusive.
As it turns out the results came back one week after this appointment and confirmed that Logan had a de novo deletion on the maternal chromosome 15q11-q13 otherwise known as Angelman Syndrome.
We found an amazing community of Angelman families eager to provide help and support. We are fortunate to have Angelman families living not too far away who have become good friends.
The ASSERT charity and Angelman Syndrome Ireland are both well-established charities providing excellent resources for families including annual conferences and workshops.
Without this help and support and being able to connect with other families, those with Angelman Syndrome and other disabilities I’m not sure where I would be today.
Logan experienced very poor health in his first few years with numerous hospital admissions for reoccurring throat infections – many parents of young children will have experienced similar.
But for Logan each infection resulted in increased seizure activity and during one bad drop seizure he knocked himself unconscious. Logan also had a tonic clonic seizure following a bad infection.
Every parent of a disabled child will identify with the difficulty in getting to every hospital appointment especially when you live in a rural area.
Finding the correct school placement and securing the right levels of therapy in a system already stretched to the limit. It often feels like the ‘system’ lets down children like Logan.
If the correct provision was available what progress might he have made? You move into wheelchair services and the wheelchairs become bigger and heavier so you need a wheelchair accessible vehicle.
Logan can crawl, pull himself to standing and take supported steps.
Although we are delighted that he has some form of mobility, he has no sense of danger so this independence brings a whole new set of problems.
Like most children with Angelman, Logan has disturbed sleep patterns so we had years surviving on very little sleep until we secured funding for a Safe Space bed which has been a game changer for us.
As has an extension to our family home, space to store Logan’s essential equipment, provide him with the sensory and soft play equipment he needs and just enjoy family life in general.
Logan also has excessive laughter another characteristic of Angelman Syndrome.
The outside world see a happy, smiling boy but we can’t tell if the laughter, his only form of communication, is masking a more sinister cause such as pain or discomfort.
Logan understands a lot that we say to him but has no means of communicating back to us, as his mum I find this particularly difficult.
Logan is a happy, sociable boy, he has a really strong bond with his Dad which is amazing to watch. Like most children with Angelman he also loves water play.
We had to keep Logan away from Emily when she was a baby because he just wanted to be affectionate to her but didn’t understand his strength or how to be gentle.
Emily is now a strong and sturdy 4 year old who gives as good as she gets. They fight like cat and dog but their bond is so tender and loving.
Emily meets Logan from the bus with his favourite toy every day and asks for a biscuit for Logan when she gets hers.
She is his voice and his protector.
With Logan and Angelman Syndrome we’re used to new challenges and our latest exciting challenge is Wookie, our black Russian Terrier.
Wookie is being trained as a service dog for Logan and has just passed his first assessment. He will respond to Logan’s seizures, provide stability and stop Logan getting into danger.
We are so excited at this new addition to our family.
Angelman Syndrome has brought times of desperation and heartbreak when the seizures are bad, or the behaviours are really problematic, making socialisation or general every day life virtually impossible,
But then there have been some really special times. Tiny insignificant moments to most people, but overwhelmingly incredible to us.
Family and friends offer fantastic support, which we are so grateful for, but it’s hard for them to fully understand the difficulties we face.
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