Saturday, February 23, 2008

Joey and Angelman Features

Well, we are now about 24 hours + post-diagnosis, what a ride the past day has been! Many, many calls, both incoming and outgoing. My apologies if you called and no one answered, my emotions ran the gammet yesterday and sometimes I was coherant enough to carry on a conversation, at other times I wanted to shut the world out and be miserable on my own.

I stayed home from work yesterday and spent the majority of my time reading everything I possibly could about Angelman syndrome, there's some scary stuff out there! I was led to the Amercian Angelman site, and I emailed them for more informaiton. Within 12 hours I received a response with a list of parents in Canada with an Angel child, and since then have had a phone conversation with an amazing Mom to an equally amazing Angel (Thanks Erin!) who has been so encouraging and incredibly informative. I looks like one very positive thing that is already happening is our ability to connect with other people who TRULY understand what we're dealing with. Previously I had participated in message boards for hypotonia, disabled children and even just regular parenting sites, but because Joey's issues are so unique it is difficult to relate to a lot of discussions. I finally feel like we've found a supportive community where we belong, which is a huge step in the healing process.

So, as promised, here are a list of characteristics of Angelman Syndrome, and beside each I've made a note about how it currently applies to Joey:


Developmental History and Laboratory Findings

-Normal prenatal and birth history with normal head circumference; absence of major birth defects Yes

- Developmental delay evident by 6 - 12 months of age It was actually evident even earlier in Joey

- Delayed but forward progression of development (no loss of skills) This is absolutely Joey. he has always pregrossed, albeit slowly, but has never lost a skill

- Normal metabolic, hematologic and chemical laboratory profiles Until Thursday's genetic report with the word "Positive" in big letters there has not been a single test result that has abnormal

- Structurally normal brain using MRI or CT (may have mild cortical atrophy or dysmyelination) Joey's MRI at 7 months old showed a perfectly normal brain structure, with slightly delayed myelination

Clinical Features in Angelman Syndrome
Consistent (100%


-Developmental delay, functionally severe Joey is very obviously delayed, the severity seems to have increased as time passed.

- Speech impairment, no or minimal use of words; receptive and non-verbal communication skills higher than verbal ones This fits as Joey does not currently have any words. We are unsure at this point because of his young age how his receptive communication will be. We are encourage because to date Joey does understand 2 commands ("high five"and "bonk")

-Movement or balance disorder, usually ataxia of gait and/or tremulous movement of limbs Well, this was the most obvious! His hypotonia fits right in with this description

- Behavioral uniqueness: any combination of frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with hand flapping movements; hypermotoric behavior; short attention span This is a tough one. Of course we all see that he has a very happy demeanor and frequently laughs and smiles, although not inappropriately in our opinion. He is not hypermotoric and doesn't flap his hands, his attention span is hard to guage at this point as he is only 2...what 2 year old has a great attention span?!


Frequent (more than 80%)

- Delayed, disproportionate growth in head circumference, usually resulting in microcephaly (absolute or relative) by age 2 Absolutely NOT Joey. His head circumference has always remained constant in the 50-75th percentile. He does not have a small head no has it's growth slowed at all.

- Seizures, onset usually < color="#6666cc">Joey has never had a seizure

- Abnormal EEG, characteristic pattern with large amplitude slow-spike waves Joey has had only one EEG at about 6 months of age which was normal.

Associated (20 - 80%)

- Strabismus (unusual eye alignment) Joey has been examined by both a pediatric opthamologis and an optometrist, both who say Joey's eyes and vision are perfect. However, in looking back through some of Joey's pictures I see sometimes that one eye will seem a bit öff"from the other.

- Hypopigmented skin and eyes Definitely not Joey. Lots of Angelman kids are fair, blonde and blue-eyed. Joey has darkhair, dark eyes and an olive complexion just like his Mommy!

- Tongue thrusting; suck/swallowing disorders Joey did have difficulty coordinating his suck/swallow as an infant, but doesn't anymore. He doesn'thrust his tongue at all.

- Hyperactive tendon reflexes Not sure about this one. We've always been told his reflexes are normal

- Feeding problems during infancy Hmmmm..ya think?! LOL This has been an issue since day one and I don't imagine it will magically be fixed anytime soon.

- Uplifted, flexed arms during walking We won't know for sure until Joey actually starts walking, but even sitting he does tend to raise his arms, bent at the elbow

- Prominent mandible No

- Increased sensitivity to heat Jason and I disagree on this one. I've always said Joey was very sensitive to heat, Jason says ALL babies are sensitive to heat. We'll get back to you on that one!

- Wide mouth, wide-spaced teeth Joey has a beautiful, full mouth and lips. All of his physical features were measured in minute detail when we began the genetic journey and none of the measurements were abnormal, so the size of his mouth is just fine. Actualy, this is most puzzling to the geneticist, she saw absolutely no dysmorphic features at all that would indicate any genetic disorder. You can just call him structurally perfect :)

- Sleep disturbance Definitely not at all, ever! Joey has been a perfect age-appropriate sleeper since birth. He started sleeping through the night (9pm-7am) at 15 months old and I can count on one hand how many times he's woken in the middle of this night. He even naps like a champ, 2-3 hours every day at the same time. Frankly, I'm relieved to have skipped this one!

- Frequent drooling, protruding tongue The drooling with Joey has always been directly related to either being sick and breathing through his mouth, or teething. Once his last set of molars come in we'll see if it stops. His tongue doesn't protrude at all.

- Attraction to/fascination with water The jury is out on this one! I think Joey absolutely has an attraction to all things water-related and is fascinated by aquarium toys and his actual aquarium we got him for Christmas. He has always loved the bath and swimming. I think most kids get to a point where they hate baths, at least sometimes. However, other people like Daddy and Grandma who spend lots of time with Joey think that his affinity for water is nothing more than typical. Not really a big deal.


- Excessive chewing/mouthing behaviors Ummmm, totally NOT Joey! We would love it if he would put something, ANYTHING, in his mouth. He never does, food or otherwise.

- Flat back of head Absolutely not, it's completely rounded.

So, as you can see, some things just don't qute mesh. However, in the little knowledge I've aquired in the past 2 days I'm beginning to understand that there are different "classes"of Angelman, depending on how it occurred., and there is quite a variety of chacteristics and the severeity of those afflicted. Stay tuned for more information on that as we learn more.


So, Joey being Joey he has carried on as normal, no idea that anything in our world has changed, which is how it should be. That sweet little face...ah, it melts me.

2 comments:

Laurie said...

Hi Pamela,
I got your blog link from your post on listserv. My son Joshua was diagnosed at 17mos as del+. He is just over 3 now. I'm so glad you found the listserv! Your Joey is beautiful! My blog is a hodge podge of stuff about our entire family including our beautiful angel Josh! Looking forward to hearing more about Joey and his adventures!

misrology said...

hello
very nice blog
bye