The Facts

Just the Facts

On this page I am simply going to list when he reached all his milestones and his current capabilities.  Just a note to other Angelman parents: I was astounded when I was looking through his baby books to compile this information just how many, many, many times we noted that he was the happiest baby.  We even had complete strangers comment on his belly laugh and his happiness. ♥

You can go on the Angelman Syndrome Website to learn more about this syndrome.
http://www.angelman.org/
Angelman Syndrome facts
http://www.angelman.org/_angelman/assets/File/facts%20about%20as%202009%203-19-10.pdf

The following are things specifically about Scotty and his development.  He is currently 25 years old.
He was diagnosed in 1993 with UPD**

**Paternal Uniparental Disomy (UPD) – 3%In this case, Angelman syndrome is caused by the presence of two, normal paternally derived number 15 chromosomes. Since the maternally derived chromosome is absent (and it is the one that expresses the Angelman gene in the brain) Angelman syndrome occurs.

MILESTONES

Scotty was the product of a full term uncomplicated pregnancy.Weighed 7lbs 15 oz and 19.5 inches long.  Had some jaundice and difficulty regulating temperature.Had a lot of difficult breastfeeding switched to formula.  Still had difficulty and it seemed like more formula dribbled out of his mouth than went in but he was gaining weight and content.

2 Months- starting laughing
3 Months- developed huge contagious belly laugh, turned towards sounds and made gurgling noise when "talking"
4 Months holds toy, hold bottle, reaches for objects, put objects in mouth, started solid food, slept all night
5 Months rolled from tummy to back, could sit up with help
7 Months rolled back to front, play peek-a-boo
9 Months Says "AH", sit alone , waves bye- bye, rolls all over house as a means of getting somewhere
12 Months starts to G.I. Joe crawl favoring right side, eats finger food, drinks from a cup, stands leaning on furniture if we stand him up, shakes hands, high fives, follows simple directions like..Get a diaper, or find the dog...Screams AH to get our attention. Can identify eyes , lips, nose and mouth, points to pictures in a book like duck frog tiger and all the Sesame Street characters ( This is just a sample of his cognitive development)

G.I. Joe crawling 13 months...Oh that little face♥ 

14 Months first tooth
16 Months pulled himself to standing
17 Months started climbing on furniture and crawled on all fours
21 Months walking around furniture and climbing up and down stairs taking a few steps

Our fancy therapy stairs...
diaper boxes filled with newspapers :)

2 years started saying "B" sound.

Little guy trying SO hard to talk♥

21 Months he started a program called Helping Hands because he was lagging behind peers
23 Months he started walking unassissited.  He had a typical Angelman's wide gait arms up.
2 years 10 months  he could feed himself, play basic games like patty cake, Itsy Bitsy Spider etc.
Unfortunately this is when his sleeping problems also began....BAD!
3 years  noticed how incredible his memory was for people and places.  He could ride a big wheel and a little red trike, he was taking horseback riding lessons and competent in basic sign language-eat, drink, more, please, thank you , sorry, to name just a few.  He probably had about 20 signs at this time.
12 years toilet trained and mostly dry at night


Scotty Today

Bathroom Issues
Those without Angleman kids might want to skip this...trust me on this unless you like to talk about poop!
This is ALWAYS the first thing everyone wants to know.  He is completely trained and does not use a diaper.  He sits down to pee. He still needs help pulling up his pants, washing his hands and wiping his bottom, but he is pretty much self sufficient.  He occasionally wets the bed, but not very often.  Our biggest struggle right now is getting him to wait to pull his pants down until he gets in the bathroom.  It is almost as if he thinks I have to go and drops his drawers wherever he is at the moment.
It took us about 10 years to train him and it wasn't pretty.  The worst of it lasted a few years when he decided to use his poop as an artistic medium and we would walk into his room and everything was covered in poop including him.  That was absolutely the worst, grossest thing we have ever had to deal with.  Not something you can talk to your friends about that's for sure.  My mother designed pajamas that zipped up the back so he couldn't access it, but of course he was able to bypass any attempt we made to fix this situation.  Finally he just stopped. Thank the Lord!

Sleep
Or lack thereof I should say.   Scotty stopped sleeping when he was two and didn't pick it up again until he was 8 and that was with the help of medication.  For those years he slept 4 hours a day...A DAY!  And they were never in a row.  We were the walking dead and he was the happiest sleep deprived human I have ever seen. We tried absolutely everything.  Sleep training, music, warm baths, exhausting him, a water bed (which actually worked until he figured out how to take the plug out!)  What finally worked and for the most part still works today even though we still have nights or a series of nights when he barely sleeps at all and I must say that was a lot easier to handle when I was younger.  We medicate him about an hour before bed.  He takes clonodine and one benadryl that usually gets him through the night. He has a TV/DVD/VCR in his room and weirdly enough he knows how to work it.  We used to put a gate up in his room until he learned to climb over it, now we lock his door.  It is for his safety, if there is an emergency we need to know where he is at all times.  I also worry that he will leave the house.  We have locks and alarms but I swear he is a reincarnated Harry Houdini and is quite an accomplished escape artist...just ask the neighbors:)  Bottom line, we can usually get a decent night sleep although we will never be able to catch up for all the lost hours over the years.

Eating
Scotty will eat anything and everything, we have all cabinets in our house locked...although he can get in them if he tries hard enough.  When he was younger he would literally eat until he threw up.  He has no button that says stop you are full, hence the locked cabinets.  As he has gotten older that has changed he doesn't eat nearly as much as he used to and will get up from the table when he is full.
He can feed himself with a spoon and a fork.  He still needs his food cut for him.
His favorite foods are bananas, pizza, salad, hamburgers,cookies, donuts and water.  He really will eat anything.  The only thing he turns his nose up at is bacon.

Dressing
Scotty gets a shower everyday as soon as he gets up.  We assist in all aspects of his grooming.  He washes his hair, dries himself (mostly), brushes his teeth (we redo it), puts on deodorant, and my husband shaves him and cuts his nails.  We lay his clothes out and can completely dress himself.  He can't do zippers or buttons.  We have velcro sneakers and he can put those on, usually on the wrong feet.

Communication See Blog Post June 6, 2012 These are the Signs of our Lives


To be continued....


Behavior
Medication
General health
What he likes
What he doesn't like
Life skills
Work