Doddy video, AS or ....any ideas?

[Doddys mum]

After a night of screaming, laughing seizing, screaming, laughing,seizing........
I thought we need help......
Geneticists say AS they just need to test more, Pediatrician say not AS...who do we believe?

This is a video of Doddy please give your opinions...
http://www.youtube.com/watch?v=f2A5ylBBWrM&feature=email
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Xq21.1duplication Angelman Syndrome like sypmtoms

[mmadeline]

Here's my honest feedback, this is just based on comparing with my kids, who have ube3a mutation and are considered high functioning. So, just compared to my kids and only based on that video
- Doddy's gross motor is way better than my kids. Eg walking looked good, at one point he was sort of changing from one foot to the other, which needs balance skills, he also had good squat and stand.

- If my kids were at that high chair with a tray of spaghetti, they wouldn't be playing so carefully, they would be vigorously wiping it around the tray, spraying it everywhere, or picking up handfulls and either trying to eat it or throw it, or turning around to rub it in the highchair behind them. My son would probably also flap his hands a bit in excitement.

- Doddy also looks chubby compared to mine that both had trouble gaining weight.

Anyway, that's not saying he isn't, just giving you an honest comparison to my kids, because I know how hard it is to get a straight answer sometimes.

Here are my videos for comparison - http://www.youtube.com/user/mmmadeline

Can you tell me more about when he started walking, and did I read that he was having trouble falling over?

Also where is he at with vocalisation / verbal skills / sounds?

Did he have eating difficulties?

I'm just curious because in the search for diagnosis, I have come across lots of syndrome and undiagnosed kids, so I want to see if he sounds like anything/anyone else I have heard of.
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DS 6 (GDD, Del-, Methylation-, mutation+). Walking since turned 3. Can say dada, mama, mo(re). Has some signs. Rides tricycle.
DD 4 (GDD, FTT, mutation+). Walking since just before 3. Can say dada, has a few signs.

[Doddys mum]

As for throwing food...um, yes he does that, sitting....just under 12months, walking...he just started walking in February, talking....nothing, non verbal, he can mimic a few signs. Thats about it........
Eating he loves his food he sort of grazes, but the last couple of days its been difficult getting him to eat anything. They've recently discovered he's aspirating while he's drinking.
Falling, combination of drop seizures and just loosing his balance.
As for flapping ...when he gets frustrated or excited his arms flap like mad.
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Xq21.1duplication Angelman Syndrome like sypmtoms

[Magster's Mom]

Awesome video! I LOVED the song! Your little dude is a total pleasure!

I have to say, I will be very surprised if he turns out to have Angelman Syndrome. His balance and motor skills are phenomenal!! He does have the characteristic hand posture but that's also a developmental trait that all new walkers tend to have. He could outgrow that. For a child with AS who just started walking, he's not only VERY early, he's already a master of it. Most of our kids have a much longer learning curve because they can navigate a room like he did. His ability to stand in his crib like that, at such a young age, with just one hand on the rail, would be SO early for one of our kids.

Doddy's movements have a rock steady quality without the tremulousness that I would expect in one of our kids. His motor skills are just phenomenal for the AS spectrum. He also doesn't have the sturdy build and sturdy bone structure you often expect in a child with UPD or ICD at this age.

Doddy is such a happy little dude but he doesn't have the excitability I'd expect in the majority of our kids. When he smiles, its adorable, but without the tongue protrusion that you would expect in most of our kids. He seems really happy and stimulated without the quality of "OMG, that is the MOST EXCITING thing I EVER saw!!!" that many of our kids have, every moment of the day. =>

Doddy's movements and his eating are so intentional! Most of our kids have a lot of extra movements/tremors/tremulousness/jerkiness that make things like feeding themselves very difficult. Doddy doesn't have this so his eating skills are great. This is what I'm calling his rock-steady quality.

Anything is possible but he's not typical for one of our kids. He would be at the very far end of the spectrum for his abilities. The major thing I noticed was just the quality of his movements and the control he has over his body. I will be surprised if tests come up positive for AS but if they do, he will be one more example of how broad the spectrum for AS really is.

Good luck getting answers! You are truly blessed by your little dude!

Erin
_________________
Erin Sheldon, mom to Maggie, del+, DOB 8/14/03 and Ella DOB 8/19/06. www.sheldonhickey.com

See Maggie star in her movies on YouTube: http://ca.youtube.com/user/magstsersmum

[Doddys mum]

Yes, we're blessed to have our cute little dude. Some docs say AS some dont, guess we'll find out soon. I'm pleased that he's not typical AS if nothing else. Thankyou for taking the time to watch the video.
I do have to say, Doddy was hard to get moving, which worried his father. Before it was even suggested that he might have AS we thought he had Ehlers Danlos Syndrome like his father and sister. As that condition affects gross motor skills Dave was hard on him from the start. Doddy believe it or not, has never crawled, just bum hitched dragging one leg behind him. His dad picked him up again and again pushing him to walk,like intensive phsyio for hours each day. It was like watching someone training for the Olympics it was painful!
When it was suggested that Doddy might have AS I went straight to youtube. The first video I saw was this one
[url] http://www.youtube.com/watch?v=BjZA9GF3_Kg&feature=related [url]
then I thought oh ok Doddy might have AS (shrug)
It concerns me that he's nothing like my eldest son who has Autism and ADHD, nothing like my daughter who has Ehlers Danlos, so I'm lost.
I'm wandering if the fact he had swallowed meconium when he was born and was riddled with E-coli may have affected his cerebellum......but would that give him seizures, high receptive,no speech, arms up while walking, love of water, etc?
The only logical explanation we've had so far is AS. It may also be a mixture of conditions.
I would say to any parents out there that may be concerned that their child has AS to push for testing. Until they work out why the chromosome is affected to cause deletion, mutation etc, then it's worth testing for.
_________________
Xq21.1duplication Angelman Syndrome like sypmtoms

[froggie4309]

Doddy’s mum,
I watched the video and it took me back to Triniti as 2 years. Triniti is ICD AS and her gross motor is off the charts compared to other angels. She sat at 8 months, crawled at 10 months, and walked by 20 months. Her walking was much like Doddy displayed in the video for the first 1 ½ years she walked. She was sturdy compared to other angels but compared to a “normal” child she was unsteady, feel a lot and had lots of drop seizures that contributed to it as well. Now at age 6 she is so advanced in many things that I actually feel out of place around other angels.
Just this weekend we had a angel get together here in San Antonio and I hate hearing “she is SO advanced” and “she just doesn’t look like an angel”. I am proud of how well she is doing but at the same time if I feel like I don’t belong around people with the same dx as us then who do I fit with? We left the group with my husband actually thinking we should re-do the genetic tests because he thinks they misdiagnosed her. I don’t I see the AS traits they are just subdued compared to other kids. If you feel that he has AS then keep pushing for tests. AS I said he is almost EXACTLY where Trin was at that age!
_________________
~Meredith Villarreal~
mommy to
Triniti 09/21/2003 Angelman Syndrome ICD
and
Liliana 06/16/2007 Leigh's disease
and
wife to my helpful husband Carlos

[myangeltalks]

Froggie's mom,

I think there is many of us that feel as you do we just keep silent to often. I spoke with another mom tonight that feels she is alone because of the functioning level of her child. I was so grateful to speak with her tonight. Maybe it is time for more of us to speak up just as our Angel's have. To many kids aren't being tested because of their language or functioning level. If I didn't have a great genetist my daughter would have never gotten tested because she does speak, she does have conversations with me and other people. She does many things angel's arent suppose to do.
I am not bragging but I am very proud of her and how far she has come.

So speak up and maybe someone else will get their DX because we did.

[mmadeline]

Please do speak up!!!! I know I work harder with my kids when I have something to aim for. Also I was definitely one that flip-flopped between thinking it was AS or not, thinking mine were high functioning, so it is good to hear about other kids.
_________________
DS 6 (GDD, Del-, Methylation-, mutation+). Walking since turned 3. Can say dada, mama, mo(re). Has some signs. Rides tricycle.
DD 4 (GDD, FTT, mutation+). Walking since just before 3. Can say dada, has a few signs.

[Doddys mum]

Thankyou everyone for your support. We've just got back from an appointment at the hospital in Adelaide. He saw Doddy in hyper mode! He was laughing to the point of hyperventilating, flapping so hard we were waiting for him to take off. You should have seen this poor Paediatricians face "it's...it's..Autism but there's something underlying...I think....(Doddy on the floor laughing)...it could be AS... we will need a few more bloods, there's definitely something not quite right there." he said looking quite bemused.
He ordered an EEG ASAP as was requested by our quick thinking Adelaide doctor. He is concerned about possible seizures, finally someone in the medical profession listened to us.
So I guess we just have to hold hard till thats done.
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Xq21.1duplication Angelman Syndrome like sypmtoms

[froggie4309]

My Angel Talks,

Thank you for being supportive! It is great to hear of other angels out there that are not “typical angels”. Triniti has NO words but many signs she uses to communicate. Other then the no speech she is a typical 6 year old. She can run, jump, climb, ride a trike (not quite there with a bike yet), ride a 2 wheel scooter, understands EVERYTHING said around her and responds appropriately to being told things, she listens very well (for the most part), I can sit down and let her play in the whole cul-de-sac and know she will come back when I call, she has TONS of typical peers that she plays with and overall she is just doing great. She does suffer from pretty bad seizures and her sleep is non existent without the help of clonidine but otherwise she is a normal typical 6 year old that just lacks speech.

Now if you look at my other baby she fits EVERY symptom of AS and she does not even have it (she has a mito disease). In many ways I fit in better with AS families because of Lil NOT because of my angel Trin. Lil had feeding issues from birth, has had a g-tube since 6 months, sat at 13 months crawled by 2 and now at almost 3 is just starting to pull to stand and she is trying out a gait trainer. So I do know what it is like to have a child with SEVERE delays but it is just the wrong child LOL. EVERY angel is different and develops at different times so anyone who has been told their child is too high functioning you tell them to talk to me LOL


Doddy’s mom,
Glad you got someone to agree with you! Let us know how the EEG goes and if it shows the AS pattern (this was how Trin was originally dx’ed!
_________________
~Meredith Villarreal~
mommy to
Triniti 09/21/2003 Angelman Syndrome ICD
and
Liliana 06/16/2007 Leigh's disease
and
wife to my helpful husband Carlos

[chancesmom]

Doddy's Mom, I am so glad you got a dr. on your side and I hope you get answers soon. Also I loved the video and that song is the same song my husband always dedicates to Chance when ever we hear it.. I just love it

Meredith, I just wanted to say how great it is to see how Triniti is developing and honestly when I saw you guys this weekend it really inspires me to see that Chance one day will be trying to run around Morgan's Wonderland to play like Triniti was and I agree that all of our Angel's develop differently but what is great is they all seem to share a love of life that is so wonderful to see.
_________________
Regards,
Shauna, mom to Chance (DOB 11-09-04) Del +
daniella (DOB 4-20-09)
wife to Jay

[froggie4309]

Shauna,

Thank you saying that Triniti inspires you! I am sorry I did not get to talk to you more at MW since I was chasing Trin around so much LOL. It was not you how made me feel out of place it was one family in particular who always tells me the same thing over and over (not going to name names because they mean well I just don’t think they realize it gets old). I get that Trin is advanced compared to some but it makes us shy away from being actively involved in the San Antonio get together because I don’t like feeling like we don’t fit in! Triniti IS a angel and I LOVE meeting new angel families so it just kind of sucks! Maybe I should just focus on smaller individual get together….want to get together??! Are ya’ll going to the Houston walk?
_________________
~Meredith Villarreal~
mommy to
Triniti 09/21/2003 Angelman Syndrome ICD
and
Liliana 06/16/2007 Leigh's disease
and
wife to my helpful husband Carlos

[chancesmom]

We are going to houston, are you all going? We will be there on Friday night and staying at the courtyard marriot on Lake Front Circle, so if you guys are staying in the area maybe we can meet for dinner?

I totally understand what you mean about people saying things that mean well, but just don't always feel good to be said to me. I get that alot with Chance, like " Oh he will talk one day just wait he is just waiting for the right time have hope" - of course I have hope just because I want the speech therapist to focus on Pictures and gestures vs. speech doesn't mean I don't hope to one day hear Chance say MaMa! lol but I know they mean well, I guess its something we all get to deal with at different levels. Well I hope to see you guys in Houston, if not let us know next time you go to MW and maybe we can meet up !
_________________
Regards,
Shauna, mom to Chance (DOB 11-09-04) Del +
daniella (DOB 4-20-09)
wife to Jay

[froggie4309]

Shauna,

I get that kind of talk a lot too and coming from NON-SN families it really doesn’t bother me because I just shrug it off as they don’t understand but when it comes from SN families I am like “really, ya’ll are the ones that are suppose to make me feel like I fit in”…anyway I hate griping about things so I will shut up now LOL

We are going to Houston but I have yet to decide if we will get a hotel near there or stay with our families who live south of Houston. I really want a hotel because the walk is at 8 and our families live an hour away but trying to figure out if we will have the money for it. Can I get your phone number and if we are over there I can call you to meet for dinner?
_________________
~Meredith Villarreal~
mommy to
Triniti 09/21/2003 Angelman Syndrome ICD
and
Liliana 06/16/2007 Leigh's disease
and
wife to my helpful husband Carlos

[chancesmom]

well, I would give you our cell but we don't have a cell right now , lol, but you can email me since we will have our itouch with us and I think the hotel has wifi, jayandshauna@yahoo.com, well we might have a cell by then, I will let you know .
_________________
Regards,
Shauna, mom to Chance (DOB 11-09-04) Del +
daniella (DOB 4-20-09)
wife to Jay

[Samuelsmummy]

Dear Doddys mum,

Have you got a diagnosis of AS yet. I saw your video & it said Angelman Syndrome so I am not sure if you now have a confirmed diagnosis or not as I saw another post saying the docs now think it is autism. Your son is more advanced than my Samuel as Samuel is not walking yet but he has seizures, global developement delays, drooling etc but we are waiting for a diagnosis to come back too.

Please look at a video of Samuel at 2 years 4 months http://www.facebook.com/video/video.php?v=418160155732

I look forward to hearing how you are doing as we both seem to be in the same boat.

[Doddys mum]

He's been given a clinical diagnosis of AS as he fits the criteria for AS apparently. One geneticist said technically Global developmental delay. He saw one pediatrician in a 12 minute consult that said Autism but has since been seen by another Pediatrician.
His new Pediatrician thinks a bit of Autism but there is "something underlying" which is more prevalent which he believes is AS. He's willing to keep testing and so is his Geneticist. We will have to pay for the testing from here. They've moved his EEG date to the 9th June as he appears to have worsening seizures.
So from what we understand its a mixture ........they're going with AS and Autism until they can prove genetically otherwise.
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Xq21.1duplication Angelman Syndrome like sypmtoms