What is Angelman Syndrome?

Henri, was diagnosed with Angelman Syndrome (AS) at seven months old. AS is a neurological disorder that causes severe learning difficulties caused by irregularities in Chromosome 15. The condition was identified in 1965 by a British doctor, Harry Angelman, from whom it also gained its name. Other consistent symptoms include severe developmental delay, speech impairment, ataxia (movement or balance disorder), and seizures. Although, Angelman Syndrome is also characterised by a happy demeanour and some of the most beautiful smiles you will ever see.

To find out more about Angelman Syndrome and what it is visit the AngelmanUK website here

Now, aged 18 months old, Henri continues to push the boundaries of his potential and is a ray of sunshine to everyone he meets. It is this indomitable spirit and infectious smile that led to The Angelman Rally being founded by the love of people in his life.

 
 
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The first five months

“Corinne and I had fought hard to have a family and, when it finally came, we were over the moon. I remember the day Henri was born and how I felt holding him for the very first time. I swear I didn’t breath again until the medical staff took him out of my arms. ‘Cutting the cord’ was the most life affirming experience until the moment Henri was to open his eyes and see me for the first time. That’s the moment that really stayed with me.”

“We only remember the the first few weeks as blissful joy, mostly because Henri never really cried. When he did, you knew about it but the majority of the time, he just lay there looking cute as we gazed at him still not fully believing that he was here - and ours. We paraded him about like the proudest parents in the world but we soon started to notice things that made us concerned.”

It breaks my heart to look back on how we used to think he was waving to us and how we would wave back
— Xav

We knew something was up

“Feeding had been extremely difficult from day one and, at around four months in, Corinne became worried when Henri still couldn’t hold up his head or show signs of moving around like other little ones so, we took him to see the doctors. I had very little frame of reference to other babies so Henri seemed like a typical child to me. Corinne knew better though and insisted to me and our heath team, that something was amiss.”

“Henri would seem to nod off all the time but we just thought he was tired. He also seemed to have less control of the right hand side of his body, causing him to wave frantically and extent his right leg. It breaks my heart to look back on how we used to think he was waving to us and how we would wave back. Poor little thing couldn’t control himself. Henri’s sleep seemed to be getting harder to find at night too; and we did all kinds of sneaking into his room to help him without him knowing we were there. The other big problem was feeding. His ability to feed was extremely poor and required a lot of attention from the midwives. This had always been the case but it left Corinne completely house bound as it would take all of Henri’s waking hours to take in enough milk before he was ready for bed again.”

“Now, watching videos back, it all seems so obvious but, back then, it wasn’t clear to us. On the 4th of July, 2017, we took Henri to St Peter’s Hospital for an EEG scan, which measures brain activity, and our lives would change for ever…”

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after two months in hospital, we came home knowing nothing would be like it was before
— Xav

Hospital

“I recall going to the hospital and sitting with Corinne and Henri while the technician applied the EEG equipment. All seemed rather routine to me and I figured we would be on our way home soon with a clean bill of health. Henri kept nodding off during the examination but we just thought he was tired. I was so very wrong; They were in fact seizures and the guilt I feel for not seeing this, for what they were, sooner remains with me to this day.”

“From the EEG we were rushed to A&E and from there to a pediatric intensive care ward. We would stay there for a month while the doctors did every test they could conceive of. They wanted to eliminate all the worst scenarios before even voicing what they were looking for to save our terrified minds going haywire. I can still hear the beeping of the monitoring equipment and remember the sick feeling in my stomach as doctors updated us. I sat by Henri’s side and held his tiny hand every day but I had to work and so Corinne stayed in hospital the entire time. I just dont know how she did it; such incredible strength and devotion to our son, I should also add how incredibly caring the staff on Ash ward, St Peters are. There are people on that ward who are true heroes in our community.”

“St Peter’s eventually sent us up to St George’s Hospital, in London, where we stayed for another four weeks. We started off in the pediatric intensive care ward, where I learned to only look at the floor and never at the children in their beds, or else have tears in my eyes by the time I got back to Henri’s cot. I remember I actually prayed at his bed side, begging for Henri to be ok.”

“It didn’t feel like it at the time but, while at St Peters, we were extremely lucky to be offered genetic testing to see if that would give us any answers. Even luckier still, our results came back within eight weeks.”


AngelmanUK

“I wasn’t there when Corinne was given Henri’s diagnosis. I had to work but I would go to hospital every single day with things from home, or a cheeky McDonalds. On the day of being given the news, Maria, Corinne’s mother, was there with my little family. When I arrived, Corinne told me that the genetic test results showed, without doubt, that Henri had Angelman Syndrome.”

“I didn’t react the way one might imagine. I didnt know what AS was and I didn’t want to come apart in front of Corinne and Maria, who I knew would be looking to me for strength. It wasn’t about having a ‘stiff upper lip’, it was about putting Corinne and Henri first. I was in ‘survival mode’ and all my emotions had been put aside so I might better support a terrified new mum, who was devastated. I didn’t cry right away, that came later. In torrents. But, I did everything I could to shield Corinne and wished I could take Henri’s place.”

“We would go back to St Peter’s for another few weeks where Henri was slowly weened off milk and on to ‘solid’ food. But, after a long two months in hospital, we came home knowing nothing would be like it was before. As the diagnosis settled in we struggled in different ways. I became severely depressed and would stay awake for hours, often reading about Angelman Syndrome and what it meant. I think it was Corinne that first discovered AngelmanUK but I remember my first contacts on social media. I didnt know what to say and couldn’t articulate anything to anyone but they understood that it was all very fresh and let me make sense of things in my own time.”

“The AngelmanUK conference 2018 was the second time I had met any other ‘angels’ or their families; the first time being at the International Angelman Day back in February of that year. By now I was starting to feel a little more human, though I’m sure I still presented as a total wreck to my family. My sister, Elize, who was an immense support during this time, came with us with Rob, her fiancee. They looked after Henri while we went to seminars and made new friends. I met Rachel, and Lisa, and lots of other people from AngelmanUK and I really came away feeling like things might be ok. I knew there would be huge challenges ahead but I realized that there is actually a great big family of people out there who have answers for your questions. And suddenly, the questions seemed marginally less terrifying.”

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Henri is a terrible flirt.. the apple didn’t fall far from the tree
— Xav

Now

“At the time of the Angelman Conference 2018, TAR was little more than an idea that was starting to grow legs. I wanted to do something for these boys and girls who only had joy and love in their hearts, who were at once beautiful and vulnerable in equal measure. My paternal instinct to protect and provide suddenly extended to all of them - and the families who support one another despite the challenges they face in their own lives, of course. The conference had cemented what I wanted to do - I hoped to make my son proud of me, and I wanted everyone to know that I am going to stand and fight for our children. To help educate others, to support families and help fund research into Angelman Syndrome. If TAR has a motto it would be: for the angels, but probably in Latin or something…”

“Since hospital, Henri’s movement has become a lot better and, despite break through seizures, his development has been something we have been very proud of. Henri’s muscle tone has improved, meaning he can now sit up and has started eating solid some food, He is more aware of people and who they are. He plays nicely with his toys and shows his medical team just how determined he is to army crawl over to what he wants. He is also extremely sociable - and a terrible flirt, which has brought me tremendous joy as the apple hasn’t fallen far from the tree ;). Henri is such a precious little boy and I am extremely proud of my son. I wrote this so that you, the reader, could see my motivation for TAR. What drove me to start this, and what fuels this passion: Henri.”

Thank you for reading this father’s tale.”


Post Rally

As an update, post Rally; Henri made me so proud on the day of the Homecoming Fundraiser. Despite all the faces there, his one the only one I needed to see. Knowing how much I had missed him, mum had a little surprise for me: Henri had been busy training in his new walker while I was away and when I came home, I would see wee man take his first steps. There were tears..

A great shot and with very great thanks to Paul Jones (paul.e.jones.photos.)

A great shot and with very great thanks to Paul Jones (paul.e.jones.photos.)