Boston or Bust

We belong to a yahoo group consisting of other families or caregivers of children with 1p36 deletions. These parents are amazing, offering support and advice to virtual strangers on a daily basis. This fall the group will hold its second annual conference (we weren't able to attend last year's in Jacksonville) and we all voted on either Cincinnati or Boston for this year's location. Any guesses as to our vote?

If everything comes together as planned this will be a trip of firsts. Neither Troy nor I have have been to Boston and we have never traveled with Brady farther than the 1.5 hour flight from Phoenix to Salt Lake City.

In my perfect world we would take along a helper so Troy and I can attend the meetings without distraction and can sneak off for a Red Sox home game which will conveniently occur during our trip. Also, Brady will be a perfect angel on the lengthy flight which will be paid for by one of the organizations I am learning about which pays for families to attend medical appointments or conferences.

In reality I just hope that we make it there in one piece, that the fall weather will cooperate and that Brady will have a seizure free trip. I will gladly search the couch cushions for funds and juggle/wrestle Brady through each and every meeting. It will be worth it to meet all of the helpful online voices in person that make up our newfound 1p36 family.

p.s. check out our new "How Is Brady Today?" counter. We are currently over four days seizure free!

The Good

Lately our days have go one way or the other - terribly bad or insanely good. I am happy to report that today was of the insanely good variety! I am learning quickly to better appreciate the good days so they can carry me through the challenging ones.

Today started off like this ...

I get a secret thrill over Brady's obsession with reading. He has a Signing Time book and can recognize what the characters are signing and will often sign back. In his own way Brady is reading. So take that, you 16-month old reading prodigy I saw on the Today Show!

Here he is a few minutes later clinging to my sweats while I am trying to get ready.

Just as I start to feel annoyed that my hair will dry funny and that my pants are falling off Brady asks for "up", grabs both of my cheeks, plants a giant kiss on me, lunges to get back down and goes about his merry way throwing toys into the bathtub. I could not ask for a sweeter boy.

Later on...

Today Raising Special Kids held their annual Special Day for Special Kids at McCormick-Stillman Railroad Park in Scottsdale. We had so much fun last year we have been counting down the days and praying Brady would have a good day.

I have to admit I was not a fan of the petting zoo. I was wearing flip flops and was way too worried about stepping in poo.

We ran into a good friend from our music therapy group at Foundation for Blind Children and watched baby Z for a few minutes. Brady is getting old enough to touch babies "soft." Woo hoo!


By the way, Brady is blessed with perfectly normal vision. The kind staff at Foundation for Blind Children took us in simply because his eyes are extremely sensitive to sunlight (why he is always wearing sunglasses in outdoor pics). We are extremely fortunate to be involved with these organizations and I really wish something similar existed in Utah.

Thanks for reading about our day. I hope yours was as good as ours. :-)

Lately

I love blogging and the opportunity it presents to record our little family's history, especially considering we don't scrapbook or write in journals. However, I have hesitated to blog about some recent events because I am having a difficult time staying positive!

We were hoping that putting Brady on seizure meds would decrease the frequency and/or severity of his seizures but unfortunately the opposite has occured. He has had 2 to 3 seizures per week lately, some of which have clustered together and turned into grand mal seizures. When this happens we administer a valium suppository and it then takes Brady two or three days to return to normal activities like walking or going to his usual therapy appointments. He is averaging one or two good days a week when he seems like himself.

We are becoming more skilled at handling each situation as it arises and no longer feel the need to call the paramedics. However, each 'event' is still incredibly frightening. It's also becoming frustrating to cancel all of our plans at the last minute and continue to sleep with Brady during all naps and throughout every night. We are finally admitting that we need some help and are starting the process of hiring a respite care provider. Respite basically consists of babysitters who are trained to care for Brady's specific needs and could watch over him while we are home and need some rest, while Troy goes on errands during the day, or in the rare possibility that Troy and I could go out on a date. It might sound insane that we have never hired a sitter since moving to AZ but we are paranoid parents who haven't really dared to ask for help followed by directions for what to do if Brady turns blue.

We have met some amazing families on our journey with Brady, many of whom have extremely medically fragile children, some with limited life expectancy. This has brought me some needed perspective and has helped me adjust my expectations of what I thought my life was going to look like once I had children. I still have my bad days but will readily admit that the positives in our situation ALWAYS outweigh the negatives. I mean, have you seen this smile?

I feel better already. Thank you, internet, for helping me stay positive.

100% Random

Not much to blog about this week. You know you're getting desperate to get out when your idea of an exciting Friday night consists of checking out the new Whole Foods store down the street. Here are some pics of a few of the people we run into each week...

This is Brady's physical therapist, Amber. Brady has worked with Amber twice a week for over a year now. I'm sure he considers her family because, without exception, he squeals with delight when we pull into the parking lot on Wednesday & Friday mornings. That stinker has even been known to give Amber extra hugs and kisses in attempts to distract her from particularly challenging sessions.

This is Betsy, Brady's new speech therapist. Speech has been especially challenging/frustrating but Betsy (along with Brady's feeding therapist Angie) never gives up! They are even traveling to the east coast this month for training which they think will help Brady work with them more effectively. We have a handful of other therapists we absolutely love but I don't have pictures yet!

Last but not least... Miss Jules, who despite her Diva appearance is actually very tolerant of BYU t-shirt wearing little neighbor boys :-)

Easter, Brady Style

Our first Easter Egg hunt! The HOA loaded the park with eggs and made all of the kids wait 15 minutes longer than initially planned. I thought there was going to be a riot - the bigger kids were angry, yelling, and grabbing the yellow tape ready to destroy!

Ready, set, go...

Brady thinks eggs are boring, eats sand and lunges for Mom's camera.

Maybe this is because Mom tried to pass off her purse as an Easter basket.

Meeting up with Dad for some pizza at Sauce was much more Brady's style.

Enough with the pictures!

Happy Easter!

More Signing Time & Sunny Days

We recently moved a mirror onto the floor since gazing at himself is Brady's current #1 hobby. I always catch him signing to himself and, I'm not even kidding, saw him laugh and sign "mom" in his sleep the other night. I'm sure I was telling a HILARIOUS joke in his dreams ;-) In reality, he laughs when I bend over and groan so I'm sure that's what was going on in his head.

Signing "hungry"...This is the sign for "hat" which Brady also uses as the sign for "dad." Both signs are done on the head and I'm positive Brady uses them interchangeably because Troy ALWAYS wears a hat. Brady's face lights up at the sight of any hat and then he signs "hat/dad" and starts looking around the house for Troy. He is pretty much just calling Troy "hat" if you think about it. This one's got a sense of humor!

Brady's current signs:

more

hi/bye

food

cookie

hungry

mom

dad

hat

brush teeth

please

thank you

sorry

dog

car

airplane

sleep

ball

all done

brush hair

I think Brady's priorities in life are obvious by this list. He has all of the boy basics covered!

Kissy kissy!

Milestones

Where oh where has my baby gone? I knew Brady might be mobile enough to do this but I had no idea he was tall enough and coordinated enough to pop up on his tip-toes and reach my stuff on the bathroom counter.

Despite the loss of some of my eye shadow it was quite a thrill (yeah, I don't get out much) to find this mess because it felt so normal. This all prompted Troy to start installing the baby-proofing stuff that we got as a gift when Brady was born and have waited so patiently to use. There were so many times we looked at that pile of little white plastic thingies and asked ourselves if we would ever need them. Yes we do!

Coming Up For Air

Remember that post about my rocking chair and how in love with it I am? I changed my mind. I have been in that damn chair, for the most part, since Saturday morning. Brady seized over and over in that chair until we were finally forced to break open our emergency pack of Valium. I won't go into the details of how you administer Valium to a toddler but it scared us to death to use it and it actually worked quickly and beautifully. We haven't had any seizures since Saturday morning, just a high fever that won't go away and one cranky little boy.


On a brighter note, the powers that be at work have assured me I can work from home whenever and as much as I want. I don't think I'm disciplined enough to make that work but it's a huge relief to know I have the option. Also, we ran to the grocery store this morning to give Brady some fresh air and find something he might actually eat. This is who we saw...

We saw him but I didn't dare talk to him because A)I was too star struck and B)hello, I looked awful and there were cameras everywhere! I am actually quite obsessed with the Oprah show and its many experts. Troy loves to poke fun at me for this and has already pointed out how ridiculous it is that I didn't go talk to "my idol."

There is one other thing that has made Troy and I so very happy lately and it is this clip. Apparently the whole world has seen this video but us. We have been speaking in bad British accents now for days.

I know it seems like all we blog about is seizures but we're just in the midst of one of those clusters. We can't seem to think about or get much else done but we know it will pass. We will get this medication thing figured out and our lives will start to feel normal again. Thank you, everyone, for your kind comments, thoughts and prayers. It boosts our spirits more than you know.

Trileptal

This has been a difficult week for us. We decided to place Brady on seizure medications as his seizures continued to increase in frequency and duration. We had discussed our options with a couple of different neurologists over the past six months and finally decided that it was time. We weighed our options with a couple of different medications (all carried side effects that can be frightening) and finally decided on Trileptal. Anyone who has gone through the process of diagnosing seizures will vouch that the process is both difficult and scary. First of all there are many types of seizures and it is not easy to identify the specific type. Brady has been through three different EEG procedures in the past year (of course he didn't have any seizures while hooked up to the machine). One of the EEG's was actually a 3 day study in the hospital (which tested all of our patience levels) that revealed no seizure activity. The picture on the "RSV SUX" post was actually taken in the Epilepsy Monitoring Unit at the hospital where we did the 3 day study. The bandage on his head was to keep Brady from pulling the wires off his head. We have tried to catch a couple of seizures on our own with the video camera but have been unsuccessful because it is too frightening to leave his side as the seizure is happening to get the camera and you don't think to grab it as you are racing in. We finally had to make an educated guess that Brady was suffering from Complex Partial Seizures which means that the seizure originates in either the right or left hemisphere of the brain causing the opposite side of the body to shake. Our best guess is that Brady's seizures are beginning on the left side of his brain (which is actually where he has an arachnoid cyst) because his eyes are usually shaking back and forth while looking up and to the left with the right side of his body doing most of the movements (usually a rythmic pumping motion). He will ocassionally bring his fist to his mouth while he is having the seizure and there is no shortage of slobber. His mouth and tongue make a smacking or clicking sound (almost as if he is tasting something) and usually end up blue in color as he struggles to breathe regularly through it all (this is the scariest part). His seizures usually last anywhere between 1-4 minutes (they seem much longer). He usually sleeps for a while immediately following the seizure...unless we call the EMT and they wake him to take his vitals and in this case he becomes EXTREMELY irritated (needless to say, we don't call very often anymore!)...
So far so good with the medicine and he is very good to take his "Medicine Candy". As Kajsa noted in an earlier post, some of our posts may seem like a little too much info but we are hoping that someone will be helped in some way shape or form by stumbling into our blog. We have learned so much from others and hope we can do the same for someone else.
The one thing we truly regret through this whole process is not buying security cameras for the house earlier in the process as we witnessed Brady having a seizure in his sleep the first day we had the camera monitors set up (if only we would have had a recorder set up at the time). All but one of Brady's seizures have been during either a nap or while sleeping at night. We realized that we don't know how many seizures he has had in his bed by himself without our knowing. This left a sick feeling in our stomachs knowing that Brady has been alone at times having seizures. Second guessing yourself is not a fun activity and we are getting way too good at it. You will find much better descriptions of seizures and medications than I gave at http://www.epilepsy.com/

(This picture was actually taken in Utah last spring...thought it may bring hope to everyone that the snow really does eventually stop!!)

All Done

Brady has been learning sign language and is up to about 20 signs. He periodically surprises me with new signs he learns with Dad while I am at work. He recently learned "mama" and often signs "mama" when I'm not home. While I don't love the fact that he is missing me while I'm at work (ooooh, the guilt!) I love that he is better able to communicate with us.
I haven't seen Brady for a few days due to working some long hours lately. When I got home last night I picked him up and proceeded to kiss, kiss, kiss on his cheeks. He took one look at me and signed "all done." He then showed me his sign for "Mom" and "Signing Time" and pointed to the TV.
Translation: "Bleh... stop kissing me already, Mom! Oh, and turn on my show."
He is growing up so fast! Thank goodness he now has a way to tell me.
Here he is signing "all done taking pictures" as he watches his favorite DVD...

And another picture because this chair and this boy make me so happy...

I got this La-Z-Boy for Christmas. It rocks while reclining and has already seen me through many sleepless nights with Brady. He goes through periods when his body twitches and jerks which wakes him up every few minutes. It helps if Troy sleeps with him and can put a little bit of pressure on Brady's arms or legs. Until we got the chair I couldn't sleep with Brady and Troy has had to shoulder this burden alone. Now I put Brady's head on the fluffy arm rest and during those nights when his little body just can't calm down he sleeps on me while I hug his arms and legs. I can sleep so much better knowing there is no risk of rolling over onto him and the fact that he can't kick me all night long in this position. Hands down, the best Christmas present ever!

Monosomy 1p36

Lately several friends have asked me whether or not Brady has an official diagnosis. I realized that while many of our friends know all about Brady’s issues and our family’s struggles over the past two and a half years, I haven’t done a very good job of informing people about what we learned from our 6+ months of genetic testing in 2006. I received a phone call in October 2006 during which our genetic counselor stated that Brady has “an interstitial deletion on the short arm of chromosome 1 and the breakpoints are 1p36.22-1p36.31.”

K. What?

Unfortunately our counselor was unable to provide any additional information and our geneticist had taken a leave of absence. Further complicating things was the fact that we had just moved out of state and had to start over with a new geneticist. We still don’t have a lot of answers but I will share what I have learned from my very official research utilizing our various doctors, Google and Wikipedia.

Each human cell has 2 sets of 23 chromosomes (one set from each parent). The chromosomes contain DNA and all sorts of information that make up each and every cell in the human body. While Brady is only missing a tiny piece of one of his chromosomes, this deletion affects every cell in his body and, subsequently, the way in which his body developed.

The technology used to diagnose deletions such as Brady’s has only existed for a few years so, as far as we know, there is no one else is missing the exact same material in the exact same place on chromosome #1. However, a syndrome called Monosomy 1p36 (or 1p36 deletion syndrome) involves a fair amount of the same information that Brady is missing. Picture a row of books containing exactly 20 books. Let’s say the people with Monosomy 1p36 are typically missing books 17 through 20 while Brady is missing books 16 through 19. This is why several geneticists we have contacted tell us that Brady does not have this syndrome and other geneticists tell us that he does. Confusing? I think so.

Regardless, Brady shares most of the same traits and issues as other children with 1p36 syndrome. Wikipedia has the most concise and easy to understand description of this syndrome, in my opinion. It was written by the father of a little girl with the syndrome. We were lucky enough to meet Nate and his family over Christmas as they live in our home state of Utah. Nate and his wife Melanie have taken it upon themselves to blog about their experiences with 1p36 syndrome. This blog (along with a couple of other websites created by other 1p36 families) has helped me understand many of Brady’s issues and has provided me with valuable advice in regards to different treatments. These parents know more than any doctor I have encountered and I don't know what I would have done without all of the information they have put on the internet. Nate & Melanie’s daughter is a year and a half older than Brady and I cannot begin to describe how uplifting it is to read about her progress and witness all of her many accomplishments.

So to keep things simple we are now telling people that Brady has 1p36 syndrome. For more information on this syndrome, you can read the Wikipedia entry here. My hope in writing this post is that someone like me, scared and confused after receiving a call from their doctor, may find this blog when they type “1p36” into Google. If so, please feel free to email me and I will try to answer your questions and offer you the same support that so many people in our new 1p36 family have offered me.

Quick Update

Wow, time flies! The good thing about posting so infrequently is that I get to report on several milestones that Brady has achieved in the past few months. At my last post Brady was 20 months old and just learning to sit up on his own. A few months later and check this out...

Yes, this is Brady standing on his own during a physical therapy session. He started crawling on his second birthday and is now pulling himself up on furniture and cruising around as long as he has something to hold on to. We don't typically dress Brady in half of a monkey suit but this picture was taken on Halloween and it was just too hot here in Phoenix to wear the whole costume.

Brady seems to have had a huge burst in development after what seemed like an extremely long time with nothing new happening. Sometimes it is hard to see the progress when you spend so much time with your child each day. I am not a patient person and this is something Brady is helping me learn every single day. I remember when he had just turned one and was still barely holding his head up and trying to roll over. We were waiting for a diagnosis and I had this recurring fantasy that I would go in his room to pick him up from a nap and I would find him standing in his crib holding onto the rails. I even moved the mattress down so he wouldn't fall out of the crib when this big miracle happened. I realized the other day that Brady's miracle did happen, just not on my own time frame. I am still trying to get used to him just "appearing" in different places of the house. I love seeing him assert himself and just crawl over to play with whatever he decides he wants. Lately when the house gets too quiet I almost always find him doing this...

Brady is always sneaking off to his room and pulling every book off the shelf. He truly loves books and while he prefers that Troy and I read to him he will entertain himself like this for at least twenty minutes a few times each day. Brady is still nonverbal and struggles to learn things every day of his life. We noticed, though, that he alway "reads" his books with the right side up. He knows what the words and pictures are supposed to look like! This is good enough for me, for now. I'm still trying to work on this thing called patience.