British mum's discovery of her son's Angelman Syndrome

Gulf News

A British expat living in Dubai has explained how she found out about her son’s rare genetic condition called the Angelman Syndrome.  Mother of two, Emily Ray said her second child – Sami – was not reaching his milestones as a baby.  Read the full story here: https://gulfnews.com/uae/watch-how-british-mum-discovered-her-son-has-angelman-syndrome-1.97234359  See more videos at https://gulfnews.com/videos Read more Gulf News stories here: https://bit.ly/2HLJ2km  Subscribe to Gulf News on YouTube and watch more of our videos: https://www.youtube.com/user/GulfNewsTV  #UAEnews #Dubai #AngelmanSyndrome

Transcript

00:00Sam has Angelman syndrome, which is a really rare genetic condition. He was diagnosed with

00:13it when he was 21 months old. He hadn't been walking or talking or rolling over or crawling,

00:20so I'd investigated him for his hearing to see if that was why he wasn't talking. And

00:25then we finally saw a developmental paediatrician, and he took one look at him and just said

00:33he has Angelman syndrome. And I said, what is that? Nobody's ever heard of it. I didn't

00:39know what it was. He knew what it was, luckily, because he'd seen three patients with it in

00:44the UK. So once you have seen a child with AS, you can recognize it sort of from the

00:49smile and from how happy they are, and they flap their arms when they're excited and so

00:53on. So that is when we first found out about Angelman syndrome. They are missing one gene.

01:00Only one gene that isn't working. Everything else for him is working. Every single thing

01:05else that we know of is working, but this one isn't. It's called UBE3A, and it expresses

01:10protein and so on in the brain. So it is a neurological condition. If he doesn't have

01:15this gene in other cells of his body, it's not a problem. So if it's not in his heart

01:20or his skin, it's fine. It's not a problem. It doesn't cause other medical issues, but

01:26it affects his brain. So it affects his brain in terms of the cognitive ability, the developmental

01:31delays. Obviously, his ability to speak is not there. He is able to make lots of noises.

01:36The happy noise you heard, very, very nice. If he's doing something and he's really happy,

01:41you just get a, uh, uh, uh, uh, he's very happy. And if he's not happy about something,

01:47he will scream and he will tell you very clearly. So he's missing that one gene. And

01:53the reason is that it exists on the maternal and paternal copy, but on the maternal copy

01:59for about 80% of people with AS, it's been deleted. So that gene has gone along with

02:05some other genetic material. He has two paternal copies, no maternal. And on the paternal copy,

02:15the body switches the gene off. So the body says, we don't need two copies of this gene

02:21to be working. They turn it off, but he doesn't have a maternal copy. He has two paternal.

02:27So he has, he has two copies of what he needs, but they're not active. It's always a journey.

02:33It's a learning, it's a learning curve. You don't know what he's going to be able to do

02:36next. So you can't always plan and predict what he's going to do. So you often end up,

02:44uh, kind of just winging it, you know, and you, and you say, Oh, look, he can do this

02:50now. Oh, great. We've learned a new skill. Okay. What can we do next? So, you know, from

02:57being able to even drink from a bottle, that was a big deal. Then you move to being able

03:02to drink from a straw, all those kinds of developmental things that babies do, but he

03:06does much later and it takes him a lot longer to do. And you also don't know if he's going

03:11to do it. You always have a kind of a celebration of even a little milestone, you know, Oh my

03:16goodness, he's drunk, you know, drunk through a straw today. He's held his bowl with two

03:21hands today. Um, he hasn't thrown the food, you know, he can sit and he can feed himself.

03:26So there's all these little steps that he does, um, and that you realize he can do them

03:32and then you go, Oh, excellent. So what can he do now? What can we try and practice next?

03:38When we first saw the doctor, we didn't know if he was going to walk right now, obviously

03:44he walks and he runs and he jumps and he climbs everywhere. Uh, but at the time you don't

03:49know that. So you just have to be very flexible, very open-minded and always think he's going

03:54to do something, what it's going to be next. We don't know, but he's going to achieve something.

04:00We're very fortunate in the sense that he doesn't need extra medication for AS. What

04:05they're looking into and they're trying to work a lot on is gene therapy. So it's about

04:10trying to make that gene, you know, switched on, uh, how they do that. And the fact that

04:16he has two copies of it, what would happen if he does ever get it switched on, he would

04:22maybe have too much, right. Being expressed because he's still got two copies. So, um,

04:28it's a very big unknown, but they are doing a lot of research. They've done clinical trials.

04:32They are trying to move forwards, um, in terms of either replacing, um, that gene, um, or

04:39in terms of switching on the one, uh, that the patients, the individuals have, but that

04:46doesn't work. We have a little group, a very nice little supportive group of a few children.

04:51There aren't, there aren't many. One of the main reasons for raising awareness, which

04:54I do on social media a lot with lots of posts and, and very lovely people like yourselves

04:59who helped me get the message out further, is that then I get random messages, for example,

05:04uh, from a lady who said, my friend's son has just been diagnosed with Angelman syndrome.

05:12She was very surprised that I knew what it is and I know what it is because of Sam. So

05:18thank you so much for raising awareness. Please, can you talk to this mom? So that is kind

05:23of my number one reason for raising awareness so much is that when someone comes across

05:28it, it won't be a complete unknown anymore. A.S. is one in 15 to 20,000 and the reason

05:34why he has it, he's, he's a very rare, uh, within A.S. His reason for having it makes

05:41him one in 375,000. So he is very rare. So if you don't raise awareness, nobody is ever

05:48going to know about it. And the more you know about it, the more people come up and they

05:51say, hi, I'll thank you for his, you know, sharing his story. My key one is always trust

05:57your instinct. If you think something isn't quite right, you get it checked out and you

06:02don't, you don't only go with one opinion. You get it checked again or again or again

06:08until you get, uh, an answer because the key thing is early intervention. If possible,

06:15it's really, really important. Um, and, and just believe in your child that your child

06:19will achieve, you know, something, you know, they don't have to achieve the same as, you

06:26know, a neurotypical child, but he will achieve something and he achieves by making connections

06:31with people, by making lives brighter, you know, making people smile.

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