Completely Appropriate

One of the characteristics of Angelman Syndrome is inappropriate laughter. What is deemed inappropriate is often subjective, and therefore the use of that term when describing my son often triggers irritation in me. Of course, being that he's MY offspring, I should remember to give people a break, because I sometimes laugh at completely inappropriate things (and times), as well. So...Angelman Syndrome, or heritage? Guess we'll never fully know!

Gabe will laugh until he can barely breathe, watching small children run in circles. He thinks Tigger plowing...er, bouncing... Eeyore is hilarious. Horton Hears a Who is one of his favorite movies. I'm his mother. I know these things. So why have I never realized The Three Stooges would probably trip his laughter trigger?



Oh my word!

He LOVES that show! On New Years Eve, one of the cable channels ran a Stooges marathon. He didn't moooooooooove from his seat. Completely mesmerized.

He doesn't talk, but the belly laughs Crack. Me. Up!

A Question of Curing

I absolutely love Jimmy Stewart. My favorite Christmas movie is It's a Wonderful Life. I cry Every. Single. Time. I watch it. He learned just how important his role was in the lives of the townspeople, and how he made a real difference. Ok, so pretend I'm a maple tree and call me Sappy - won't bother me a bit.

Savannah recently picked up Jimmy Stewart's comedy, Harvey, at the library. He plays Elwood P. Doud, a perfectly normal man, except that he is always talking to his imaginary friend Harvey, a giant rabbit that only he can see. A few of his friends go along with him, but every one else, including his sister, is positive he's lost his mind and seeks to commit him to the home for the insane. His sister manages to convince him that the curative treatment is a good thing, and because he loves her, he agrees to the fix-everything injection. He doesn't want it, and he doesn't want to lose Harvey, but he wants to make his sister happy.

After he agrees to be cured, his sister is conversing with a cab driver who routinely brings people to this doctor for the same treatment - a treatment that will make them fit in with polite society. The man tells the sister that he always enjoys the drive TO the asylum. He enjoys looking at sunsets and birds that may actually not be there. He likes the happy conversations with the people who tip generously and love largely. But he never likes the drive AWAY - after the cure, he says, those people turn into normal people who are mean, and he just doesn't like them then. The sister ultimately realizes that Elwood is just fine the way he is, and saves him from being cured just in time. They go back home with invisible Harvey tagging along.



In the world of Angelman Syndrome, we're searching for a cure. When Gabe was diagnosed eight years ago, we were told there was no cure, and led to believe that there probably never will be. This belief was premature. Researchers are now working on several possibilities to cure this chromosomal disorder, and have in fact cured it in lab mice. Scientists are specifically looking at three different types of a cure. They are unsure about how any possible cure could or would be delivered to humans. There are mountains of questions with barely a mole hill of answers.

I am excited about the possibility of a cure. Let's be honest...I'm ECSTATIC about a cure!! The idea that my son can someday walk without assistance, or carry on a conversation with me, or kiss his wife and tuck his children into bed after an exhausting day at the zoo... Who wouldn't want that for their children?

It really is more than I have ever thought possible. It is impossible for me to imagine what Gabe's life could be like if Angelman Syndrome is someday curable. Because the research is still in the early stages, the doctors have NO clue what a "cure" would look like, or if one is even achievable for older children and adults.

But...

Science and technology advance so fast. Who would have thought, 50 years ago, that the genome project would ever become reality? Heck, 50 years ago was it even being considered? (Dr. Weeber, one of the researchers on the AS project, talked about this in the February 2009 FAST Newsletter.)

Obviously, a cure is years away, and I'm not holding my breath waiting for Gabe to wake up normal someday. That word...normal...is such a challenging word to define. Shortly after Gabe was diagnosed, I was in a heated debate on one of the online AS forums, and someone told me my thinking was "fundamentally flawed" when I made a comment about how it would just be weird to wake up someday to find Gabe standing over my bed, miraculously saying, "Hey Mom! Let's go to McDonalds for breakfast!"

(I'm not goofy enough to assume that any type of cure would give immediate results - I was sort of playing Devil's Advocate), but the direction that debate was going was basically that if a cure was available and we parents didn't choose to have our affected child participate, we would be horrible parents. However, I don't intend to let Gabe be a guinea pig for something that may or may not work, just because there's a possibility he could be normal. What is normal? Would Gabe want that? How can we know that he would choose that? Would we make our decision to accept or refuse treatment based on OUR wishes, or on Gabe's? What aspects of Gabe's life would change following a treatment? Would he still be a perpetually happy person? Would he advance through all the developmental stages he's not yet reached? Would a cure mean he becomes a snarly, crotchety old man who no longer likes to have the back of his neck tickled and no longer finds amusement in simply watching other people laugh?

Accepting Gabe's diagnosis wasn't easy for me. Realizing that the child I love will never be the adult I envisioned required me to travel down some roads that were full of very painful learning bumps. Now I'm being told that there's a possibility that I could someday be traveling another road to watch my son, maybe, reach the potential that I had originally hoped.

But what does GABE want? Does he want that cure? Does he think he needs to be fixed? What Harveys will he lose if we cure him?

Thankfully, I don't have to make a decision today. On that, you may quote me.

My Cuddly Gabe

One of the upsides to Angelman Syndrome is that Gabe is very cuddly. He occasionally displays his irritation with me by ignoring me or sticking out his bottom lip, but that's a rare occurrence. He is almost always happy. He is amused by just watching people run around and act goofy. He will crawl into my lap and fall asleep, or just sit there and watch the other kids play. At 14, he's not Too Cool to hug Mama.

Gabe Should Consider a New Workout Routine

He's fine. Bruised and sore leg, but he's bearing weight OK.





Males respond so differently to traumatic situations than females do. Here's what happened today at our house, following Gabe's adventures at the Y with his school mates.

Mom and Savannah were just relieved that Gabe is OK, and both chuckled at the vision of people scurrying out of the building due to Gabe's Gym Faux Pas.

Synopsis delivered to Bucky and Preston:
Gabe fell at the Y today. Down the stairs. He pulled the fire alarm and the building had to be evacuated.

Bucky's response: "Alright, GABE!!" - round of raucous laughter

Preston's response: "Gabe set off the fire alarm??!?? Alright, GABE!!" - second wave of laughter

Dad saw the bruise when he came home from work. He asked me what happened. I told him.
Dad's response: "Alright, GABE!!" - 3rd round on the house

Imagine the testosterone if these three blokes would have actually been involved!!

Cancelled Enroute

It's the number I MOST do not want to see on my Caller ID between the hours of 8am and 2pm Monday through Friday...

"Deanna, it's the school. Gabe...(insert current catastrophe here)..."

(ok, Deanna - it's the school, not the hospital. And close your mouth, your heart's escaping.)

Today the entertainment was Gabe and his aide taking a tumble down the stairs at the Y. Why? (ha!) Well, because Gabe and his aide were working on stair-climbing skills, and the genius who placed the fire alarm near the stairway wasn't aware that someday little Gabe would decide he needed to use that fire alarm for support. Down goes the handle. Up goes the noise level. Up goes Gabe's startle reflexes. Down goes Gabe and the aide.

He'll be home shortly, and I'll have to examine him thoroughly. The report was "No lacerations, but he is bruised on his shin, and he's favoring his leg. He doesn't want ice on it. It's hurting him, though. I don't imagine anything is broken. Fire trucks didn't come."

Apparently, the entire building evacuated. Not knowing the story, the rest of the school staff members were wondering, "Hmmm. Did one of our kids do that?"

Yes, thank you. That would be the Juvenile Delinquent Gabe.

Hey, Mr. Fire Inspector:
Just a thought - maybe you should meet Gabe - Stretch Armstrong ain't got nuttin' on him!! Gauge where you THINK he can't reach, then move it 10 paces to the right. It might be out of reach then.

The Angel, Part 2 - As Told by The Angel

(translated and typed by Mom)




My name is Gabe. I'm 14. I like to smile. I'm mostly a pretty happy guy. I don't talk 'cause I have Angelman Syndrome. That means I'm missing a little bit of chromosome 15 in my DNA. The doctors don't know why it happens. Having Angelman Syndrome means I have to do some things different than other kids. Mom takes lots of pictures, so I'll show you what I mean.



I have tons of toys. I like to stay on the floor where I can get to them easy. When I make a really big mess, Mom goes around the house yelling "Where's Waldo?" We have a Waldo book - he gets lost in junky places a lot. I get her point. But my name is Gabe, not Waldo, so I don't answer.



I like to dump all my toys out and hide in the toy tub. Lots of times, I fall asleep inside. Sometimes it's the only quiet place there is in our house!



I do goofy things like scratch my nose when I'm sleeping. Mom gets mad at me. She thinks I do it on purpose right before holiday picture time.



I amuse myself with all sorts of odd toys. Flipping over cheap cardboard tables is pretty entertaining.



Being in the water is one of my favorite things to do. The last time we went to Florida, we stayed at a house where we had our own pool. I had a blast!



I love going to the beach in Florida. The water is fun to watch, and the sand blows all over my face. One time I had to go see my doctor, and he found sand way inside my ear. That was months after we got home from Florida!




I LOVE the water! For some reason, most kids that have Angelman Syndrome love water. Sometimes I get to go see my friend Matt at his work, and he helps me in the therapy pool. Those doctors think I'm working, but I'm really just there for the good time. But maybe they do know what they're talking about, because when I'm in the pool, I can walk all by myself!! All over the place! It's the weirdest thing! I wish I could walk when I'm not in water. Mom told me she'd buy me a big barrel and fill it with water and stick me in it - I think that's just her being weird again. I'd roll my eyes at her, but I've seen Bucky do that and get grounded, so I just smile and wave



Sometimes I irritate my mom because I won't sit still for pictures. How's a guy supposed to concentrate on the camera when he knows there's presents behind him? Jeez!




I like to look at Christmas lights. Mom doesn't put lights up outside very often, but when she does, I make sure I watch them. I like to drive around at night with my family and see which houses do the best job decorating for Christmas. Going to the zoo at Christmas time is lots of fun, too, even if it is freezing cold.



My mom says I'm a goofball. She's always kissin' on me. I like to sit on her lap and rock. She says I'm getting kinda big for her lap. I'm not real tall, but I guess I am kinda heavy.




My dad is pretty cool. I had donuts instead of birthday cake one time, and he helped me blow out the candle. I think he likes donuts because Homer Simpson likes donuts. Dad and I like to wrestle on the floor, and then take a nap together.




My friend Kim picks me up from school most days. Kim lets me help her with her filing. That's lots of fun - she has papers she doesn't need, so I get to shred them to pieces. She takes me on long nature walks around town. We sit on a park bench and talk to people when they walk by. (Well, she talks - I mostly smile.) Kim fixes my supper and gets me ready for bed. She helps my mom keep our house clean. That's a really big job 'cause we have a really big family. On Sundays if I skip church, Kim and I sweep and mop the floors and dust the furniture. We live by railroad tracks and a farmer's grain place, so our house is pretty dusty. After we're done with the housework, we camp on the floor with blankets and pillows and watch movies. Sometimes Kim takes me to her house to see Mr. Lee and the dogs. Mr. Lee feeds me bread sticks and spaghetti. I really like going there.



I have lots of people who help me. I need help in the bathtub. I need help feeding myself. My friend Chass is really cool - she has very long hair, and sometimes she lets me play with her pony tail. Sometimes I try my hand at being Hairdresser to the Stars.




Preston is my oldest brother. He takes really good care of me. When I first started having seizures, Preston would get me out of bed in the morning and put me in my chair, then go find Mom and Dad and tell them to get up so I could eat breakfast and take my medicine. Preston and I watch movies together a lot. Mom says I'm old enough now to watch the cool guy movies like the Mummy movies and King Kong.



Savannah plays with me a lot. She feeds me, and gets me ready for bed sometimes. She also wears my clothes! She's younger than me, but darn it, she's about 5 inches taller than I am! She likes to go walking with me and Kim. She makes sure I'm wearing cool clothes and my hair is ok.





My brother Bucky is super cool. He picks me up and carries me when I'm too tired to walk. He lays in my bed with me and watches movies. He keeps me lookin' sharp, too.



Then there's the dog! I love torturing her! I drag her all over the place with her leash. Mom says I have an evil chuckle that I use when I'm doing something I'm not supposed to do. Like strangle the dog.



One time I bit Frannie on the nose. Everybody laughed about it, but I still got yelled at.



Sometimes in the summertime, I'd like to go outside more, but since I have Angelman Syndrome, there's a couple reasons I can't. People with AS sometimes have problems with their body temperature, and that's me. I don't sweat, so when it's really humid, I have to stay in air conditioning all the time or I get sick. The medicines I take for my seizures make it even harder to sweat, so I'm stuck in the house on hot days. Besides, mosquitoes really like me for some reason, and they're really bad around our house during the summer, so I just stay inside and watch movies.



This is my very favorite blanket in the world. I take it everywhere. It was Preston's when he was a baby, then he gave it to me. It's been to lots of different hospitals with me. It went to Texas with me to see my cousins. It went to Florida with me twice. It went to Tennessee with me. It went to Michigan with me. It went to Missouri with me. It is my best blanket! I like to chew on things, and this blanket is very small now because I pull strings out of it with my teeth.



Mom takes pictures all the time, and sometimes a guy just gets tired of it!



Kids with Angelman Syndrome have problems staying asleep at night sometimes. So we have to make up for it any way we can. When I was littler, I used to stay awake all night and sleep all day. Since I go to school now, I sleep better most of the time, but every once in a while, I still have to catch up on my rest.



If I'm tired, I'll fall asleep anywhere. I even sleep standing up sometimes!



We've been to Disney World twice. It's hot in Florida, but we go in October when it isn't so humid.



Kennedy Space Center and NASA are way cool! You get two days for the price of one - a good deal, according to Mom and Dad!



I don't always cooperate for family pictures...




But sometimes I do...



Then again...



You get dibs on first rides when you have a wheelchair. At Disney, we never had to wait in line long, 'cause they have special entrances for people in wheelchairs. Besides, my mom tends to have problems with those turnstyle things.



My mom likes this picture, so she stuck it in here.



My dad is a pretty ingenious guy. I needed some kind of bed that I could take with me when I spend the night places, so he designed this kinda like my bed at home. I have to have sides so I don't fall out. Dad and Mom sewed this up, and now I can sleep at places other than home, without sending my mom into a panic that I might hurt myself.





Like I said, I'm a pretty happy guy...



I'm a normal boy that likes to have fun...



I figure God gave me this smile for a reason, so I might as well put it to good use...

I hope you enjoyed learning more about me.

To find out more about kids like me, go to this place.

The Angel, Part 1

Fourteen years ago November 24th, I gave birth to Gabriel via emergency C-section following nearly 48 hours of labor. It wasn't a miserable screaming 48 hours. The first 36 hours were spent at home. The next 12 hours were at the hospital resting comfortably, including the final 6 hours being tame enough to allow me to sleep, save for the occasional interruption by nurses checking my progress.

It just so happened that the day of Gabe's birth was also Thanksgiving. When the nurses changed shifts at 7am, my new nurse was concerned that Gabe's heart rate was decelerating frequently, so she paged my doctor who immediately ordered an ultrasound and called for the Cesarean. When Gabe was born at 9am that day, the doctor discovered the reason for the heart decel - the cord was wrapped very tightly around Gabe's neck several times. Dr. T told us that Gabe would have never survived natural childbirth. I spent that Thanksgiving under the influence of narcotics instead of tryptophan, being ever so grateful for a wise physician.

Following his birth, he seemed perfectly healthy. Other than frequent projectile vomiting after eating, it didn't appear that he was anything other than a typical infant boy. As time progressed, though, we began to notice that he might not be reaching his developmental milestones as quickly as our first two boys had reached theirs. Gabe was not feeding himself. He was not sitting up alone. He was not standing alone. He was not holding toys well. He was not talking at all. He was content to lay on the floor or be held. And he was always happy. Always smiling and laughing. A very happy little boy. By the time Gabe was nine or ten months old, it was obvious that he wasn't progressing at the rate he should have been, so our family doctor referred him to a child neurologist.

We had absolutely no clue just how much maturity we would experience during the next few years!

We visited doctors in Toledo, Ann Arbor and Cleveland. We scheduled appointments for therapies and early intervention. We became proficient at rattling off medical terms and diagnostic tests. We formed friendships with hospital personnel while they explained Durable Medical Equipment and insurance policies.

While the demands of Gabe's schedule were sometimes stressful, we felt like we were in pretty good control of our situation. That changed when he was two and a half. Two weeks before I gave birth to Savannah, Gabe began having seizures. These were no minor little things - it meant ambulance rides, calls from our doctors to bigger hospitals discussing possibilities of Life Flight, massive amounts of anti-convulsants being pumped into his uncontrollable body, and panic. The first night in the hospital, his seizures were so bad and his heart was working so hard that the doctor called for the crash cart to be brought into the room. We were scared to death that we would lose Gabe.

That first episode of seizure activity finally resolved, and after several days, Gabe was released from the hospital with a new diagnosis - Epilepsy. We still had no idea WHY he had epilepsy. It would be another 9 months before there was even a small clue about what was going on with him.

Over the next several months, Gabe became a regular at our local hospital. Every pediatric and ER nurse knew Gabe well. They knew what his favorite blankie looked like. They knew what he liked to eat. Every time he'd catch a cold, we'd worry that his fever would send him back to the hospital with seizures. Often, it did. We learned all kinds of interesting facts about anti-convulsant therapy. We religiously stuck to his medicine schedule. We read books and researched on the Internet. We suggested different drug possibilities to the doctors, and presented questions about symptoms of various diseases he could have. We knew which lab technicians were skilled. We spent a lot of time looking at hospital linen and sleeping in uncomfortable recliners.

When Gabe was three and a half, his Cleveland doctors decided to try to videotape him for 48 hours with EEG monitors on his head, so they could get a clearer picture of what type of seizures he was having. They said that a possible diet change might help control his seizures. So off we went to the Clinic, to try and keep Gabe occupied for two straight days of wires all over his body. As a precaution, they said, there was some blood work they wanted to perform to "rule out" any metabolic disorders that could worsen if they tried this diet routine we'd been discussing.

A few days after being discharged, (with no noticeable seizure activity during the stay, I should point out!) the phone rang with the news that doing this precautionary lab work proved to be very helpful, as it looked like Gabe might actually HAVE a metabolic disorder! Of course these results meant the diet changes we had been pondering would have to be nixed, but with other diet changes, IF these results were correct, Gabe might actually be able to have a normal life. We had to go back to the Clinic for further testing.

While the tests showed the doctors many different metabolic disorders that Gabe DIDN'T have, they could not pinpoint exactly which one he DID have. They decided to have us start him on the modified diet anyway, and see how it went. After consulting with the nutritionist, we began feeding Gabe a strict regimen of fruits, vegetables and very limited protein, with absolutely no meats.

Within 5 days, his seizures STOPPED completely! For several months, he was seizure free. We began to think that maybe he'd be able to stop his medications. We had tried many different combinations of drugs, and nothing had controlled the seizures nearly as good as the diet was doing.

Over the next couple of years, Gabe made lots of progress in his gross motor skills. We had to keep him on medication, because when he would be sick for any reason, he would have breakthrough seizures. By the time he was six, we had found the right medications in the right combinations that worked quite well.

Shortly after he turned six, we were visiting the Clinic for a regular followup. His neurologist happened to have hired a new nurse. Upon seeing Gabe for the first time, her reaction was to say "Has he ever been tested for Angelman Syndrome?"

Apparently not - we'd never heard of it. We consented to having more blood drawn, and went home full of questions. We knew it would be a few weeks before we heard of the results, so we had plenty of time to do our own research.

After reading just the basics of what Angelman Syndrome is, we knew what the phone call was going to tell us. We were not surprised in the least when the nurse said "The tests came back positive. Gabe does have Angelman Syndrome."

As Gabe's mom, this changed my outlook. When I thought Gabe just had a metabolic disorder, my hope was that he would "catch up" and "be normal". He could someday play ball with his brothers. He would ride a bike. He would drive a car. He would get married and have children.

Facing the information I had about what Angelman Syndrome involves, I knew the likelihood of most of those things ever happening is pretty slim. Naturally, the first thing I wondered was "will this affect his lifespan"? I was relieved to see that he would probably live a typical lifespan, and that his condition wouldn't deteriorate. But beyond that, what?

That "what" is always changing. I have accepted that my son will always need care and supervision. I have learned to ask for help. I have admitted that I just can't do everything for him. I have agreed to let others offer their expertise. I have allowed others to learn about him. I have realized that other people can love my son unconditionally. I have fought for him to be educated well. I have witnessed my other children show compassion and protectiveness. I have discovered friendships in hidden places because my son is an Angel.

I can not know what Gabe's future holds. I can not predict what might happen. I can not control the uncontrollable. I can not list what Gabe will someday accomplish.

I do know that Gabe is smart. I do know that he's creative. I do know that he's loved. I do know that he knows more than we think he knows...

Noon. This Saturday. ABC. Be There!

I told you I was thinking about it. I did it. I waited until after the obnoxious lying political ads ceased, and I made the call.



I kindly explained that I wanted the cheapest, most basic of packages available. For a mere measly 15 bucks a month, we now have Time Warner Cable. Gabe can now enjoy quality commercials like Party in My Tummy and other motivationally-intended nonsense.



Savannah has been a bit under the weather over the past few days, so the Cable Guy showed up just in time to keep her mind from being completely bored out of it's skull while she convalesces.




We all know why the cable was really installed!




Never let it be said that people in this family can't multi-task while watching the Buckeyes!




Yes, Gabe - as a matter of fact, we DID kick Illinois' butt!




Ah, Uncle Jim! So good to see you again, even with the black smudge across the screen. I've missed you!




We teach our children at home. The important stuff, naturally!




Straight home from work, pick up the baby, plunk onto a chair - no rabbit ears required. Maybe now the neighbors can return to their delusions that we're normal.

Probably not - one of Bucky's friends told us last weekend that his mother had said to him earlier in the week..."You should tell them to take down that Ron Paul stuff from their yard."



"No, they won't. It's their revolt against the election results."

She still let him spend the weekend with us, though.

And for a fitting ending...




Bring.It.On.





(sports images courtesy of google images)