Angelman Syndrome interview with Tanya O'Rourke

[@thediscoverystudio]

She's not happy because she's on the show, she's happy because that's one of the symptoms of the disease - pathological happiness. The gene deletion on chromosome 15 that causes this disease is inherited from her mother. If the same gene deletion was inherited from the father, she would have Prader-Willi syndrome - causing her to have insatiable hunger and thirst as well as emotional lability. Crazy diseases.

[@thediscoverystudio]

It's not so much that they can't display other emotions, it's that they only know how to be happy. So you could literally slap them as hard as you can and they will just laugh it off. So crazy. I don't believe that there is a cure, the only method to over come this would be through prevention. Maybe through gene analysis in utero so that if they find the abnormal chromosome they could just abort the fetus. Very sad.

[@romariolewis4287]

+Danny D You wouldn't get very far. Most angelman sufferers can't talk or have poor speech development.

[@melissa3289]

+Andrew Hillman if a parent knows they have this disease why would the risk that on their kids by having one? I don't know anything about, but if it comes from a parent who has it, I don't maybe not having children a good idea.

[@thediscoverystudio]

Most parents simply don't know they are carriers for the disease. I don't think any parent would which that life on themselves let alone their kids. Very sad situation like most genetic diseases.

[@jondalton179]

+Melissa Allan This is a genetic disorder, but it is not passed down from mother to child in the way that you're describing. Angelman syndrome demonstrates a very complicated aspect of genetics, so people often get confused. It works more or less like this: There are two copies of every gene (one from mom and one from dad). Some genes that you inherit from dad are naturally silenced (turned off), so only the mother's copy that the baby gets is used by the baby (although the baby would have both copies). This is the case in Angelman syndrome. The specific gene on chromosome 15 that is associated with Angelman syndrome is normally turned off from dad, and turned on from mom. So a person without Angelman syndrome would have both copies of the "Angelman gene" on chromosome 15, but they would only use mom's copy and dad's copy would be permanently shut off. It is confusing how things are named in genetics. Genes that are associated with disease are named after the disease. So even though you have a normal copy of the "Angelman gene", it is still called the Angelman gene. What happens in Angelman Syndrome is three possibilities: 1.) Mom's normal Angelman gene got mutated. This doesn't mean that mom is a carrier or that she has it. It means that when the gene was being passed to the baby, it somehow changed. Thus, there is no way that the mom could know, because she DOESNT have a mutated copy in her normal bodily genes. The mutation occurred during the transfer from mom to baby. 2.) Mom's gene got deleted during transfer, so baby doesn't get a mom copy. 3.) Baby got two copies of dad's genes, and no copies of mom's genes. This happens sometimes and is called uniparental disomy. All three of these possibilities result in baby getting no functional copy of mom's Angelman gene, thus the baby only has Dad's copy, which as I mentioned at the top is naturally turned off. So baby has no functional Angelman gene. This causes Angelman syndrome! Also, as Andrew Hillman mentioned, if the opposite occurs, and you miss out on functional copies of dad's genes rather than mom's, you get Prader-Willi syndrome.

[@kezza138]

Was this interviewer in a bit of a hurry?

[@englishcoachingfluency]

Totally agree! I have a 5 yr Angelman syndrome chid and she never stays still for too long, specially in a new atmosphere. So I guess before the interview they should’ve planned for that!

[@charismalorelye4516]

@@kezza138 yes lol it’s live tv they only have minutes

[@billinghamscuba]

Bless her

[@shirleywoodfield3228]

my son mark had Angelman syndrome he's 23 now

[@thelegendaryblackbeastofaa115]

Um...the way the interviewer asked about the kid's lifespan seemed....a bit too casual. 8( I was like, "what the fuck?" Hopefully this cute kid will be okay in the long run.

[@adriancallme7170]

00:08 That's so meee! eeeveryyytiiiiime

[@because12345654]

So we just not going to talk about how she escaped?

[@Hidanchi]

Cure it?

[@nataliestevens1225]

+Grimm Reaper It's a genetic disease, so there's not really a 'cure' as we cant change someones DNA inside all their cells. Some genetic diseases that result in the deletion of an enzyme can be managed with constant injections of that enzyme, so perhaps we could discover a way to make up the faulty gene function. In the case of Angelman's, there is usually a healthy copy of the gene that is 'silenced' leaving only the faulty copy - so there are researchers looking at how we can 'unsilence' the good gene, though potentially you could also affect a lot of other 'silenced' genes and that could lead to other problems.