Happy Halloween

Little Big Man

7 going on 27

(in his dad's shirt)

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It's been another uneventful week. Heck, it's been an uneventful year for the most part.   Well, I suppose it depends on what you mean by uneventful. It's actually been quite eventful  --- all in a good way.  I've had the opportunity to travel to St. Louis, New Jersey, Colorado, and New York and enjoyed several weekend visits with out-of-town friends.  Definitely not my typical schedule to say the least.  I'm not sure what I did to deserve such a good year, but I'm just going to accept it, appreciate it and try not to read between any imaginary lines.

Jack's doing well, although he's been a little more "junkier" than usual (my fellow trach moms understand what I'm talking about).  Even after all these years, I'm still not a big fan of snot, especially snot that flows from a hole in the neck. But, he seems fine.  So far, we are all fine (translation: no H1N1).  I asked Eric if there were a lot of kids out in his class and he said no.  I'm still waiting to get "hit".

Next week is Jack's 11th birthday.  I haven't been inspired to write anything profound for his special day ... as of yet.  There are some years where I have much to say and there have been a few years where I feel like I've said it all and there's nothing more to add.  Jack's birthdays are always emotional for me, in ways that I can articulate and in ways I can't. Regardless, all of Jack's birthdays are special.

We don't have any big plans for the Halloween weekend. Poor Eric, being the youngest, he gets totally gypped on most the childhood traditions.  Of course, he thinks he's an adult anyway, so I don't know that he feels like he's missing out on anything.  He does have a costume, so we might head over to my sister's house and see if we can con my nephew (who is in high school) into a little trick-or-treating.  Jack will stay home with his dad and help hand out candy ... or something like that.

Have a fabulous weekend and don't eat too much candy!

Sedona, AZ

I had the privilege of meeting another "trach mom" this weekend. Sarah and I "met" on the tracheostomy.com message board several years ago. Sarah lives in California and she came to Phoenix for the weekend. We drove up to Sedona - which is by far the prettiest part of Arizona. We went on a six mile (roundtrip) hike through Oak Creek Canyon. Even though I've spent most my life in AZ, I've never hiked Oak Creek before - it was amazing. I've definitely found a new hiking place! Here are some pictures from our day in Sedona.

Chapel of the Holy Cross

Sedona is known as "Red Rock Country"

Pictures from our hike through Oak Creek Canyon

From the road ... heading home

I just thought this was fun!

Somehow, I managed to delete the only two pictures I had of me and Sarah on my camera (it was a great picture of Sarah and a lousy picture of me ... but it wasn't intentional, I swear.)  It was a fun weekend. I hope Sarah feels rested and refreshed - she has a lot on her plate and was definitely due for some respite.

Have a great week everyone!

(sorry this is a repeat for all those who follow FB)

A Hilary Project

Hilary shared with us her first animation project, so I thought I'd share it with you.  It's a "cut-out" project - which is self-explanatory when you watch the 10 second clip.  Every movement involved moving the position of the pieces, taking a picture, moving the pieces, taking a picture, etc. and then putting it all together.  She said it was a lot of work and took a long time, but she had fun.  I think she did a great job!

Make video montages at www.OneTrueMedia.com

Hilary also said it's starting to get cold and she's having to wear lots of layers - a new experience for an Arizona girl (considering it was 102 degrees here last weekend).  Hilary says she's looking forward to snow.  I'm pretty sure come February or March, she'll be sick of that snow she thinks she is looking forward to. She's anxious to come home for Thanksgiving though - she's tired of cafeteria food!

The kids are back in school after being on Fall break for two weeks.  I'm sure it won't be long before we are "hit" with H1N1.  We managed to get through last year with no flu for any of us. I'm not optimistic that we'll  have the same luck this year.  Part of me just wants to get the dang thing and get it over with!

As of now .... all is well. Thanks for checking in my friends.

Happy Saturday

Have a great weekend and may the "pigs" stay away!  To all my friends who've already been slopped on, may you feel better soon.

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"How people treat you is their karma;
 how you react is yours."

Diagnosis and DNA

There was a time in this journey that I wanted -- no, needed -- to know exactly what Jack's diagnosis was. I figured if I could get a diagnosis, then I could set out finding a way to treat (aka: fix) it. I spent hours upon hours on the computer researching and reading PubMed abstracts and articles.  I took my information and pressed Jack's doctors with my theories of what could be wrong with him. I was bound and determined to find a name for Jack's condition, provided it didn't contain the words "muscular dystrophy". There was just no way my child had muscular dystrophy.

Fast forward to July 2005 and a week of appointments in St. Louis that included a bronchoscopy and eye surgery on the schedule.  For some unknown reason the thought occurred to me, and I asked Jack's neurologist if she thought it might be a good idea to get another muscle biopsy from Jack while he was under anesthesia for his other surgeries. (Jack's first muscle biopsy was done when he was 5 months old.)  She jumped at my "offer" and the procedure was added to the list.  Incidentally, you'd never get a Children's Hospital in this City to coordinate the schedules of the ENT, the ophthalomologist and the neurosurgeon to perform their respective procedures on the same day, in the same OR, at approximately the same time, on the same kid!

A few months after we returned home, I heard from Jack's neurologist. Jack's muscle showed reduced alpha dystroglycan and he now had a diagnosis of "congenital muscular dystrophy secondary to reduced alpha dystroglycan".  There was no more denying it - Jack had muscular dystrophy.

In many ways, Jack's diagnosis finally allowed me to "let go".  People with muscular dystrophy don't get better (at least not yet).  There is absolutely nothing that can be done to get Jack walking, talking, eating and breathing on his own.  Jack's muscles simply won't allow it.  It was time to cut myself and Jack some slack and stop setting and trying to reach goals that were not, and never would be, attainable.

The next few years were preoccupied with Jack's spinal fusion surgery and recovery and just dealing with every day life.  With each passing year, I found it a little less difficult (but far from easy) to tell people that my son has muscular dystrophy.  Although, signing on with MDA as one of Jerry's kids is still something I have not done and likely never will.

Fast forward to October 2008 and another trip out to see Jack's team of doctors at St. Louis Children's Hospital.  During our visit with Jack's neurologist she told me about several new DNA sequence tests that could be done at the University of Iowa which could determine if Jack had one of the four known genetic mutations for Jack's type of muscular dystrophy.  It was also the first time that I heard the truly "official" name of Jack's type of muscular dystrophy -- Dystroglycanopathy congenital muscular dystrophy.

Given the severity of Jack's disease, I was fairly certain that Jack wouldn't test positive (ie: he wouldn't have the DNA sequencing) for any of these genetic mutations.  Because the testing is so expensive, they initially did DNA sequencing for only two of the genes: POMT1 and POMT2.  They came back normal.  About a month ago, they tested for the other two genes: FKRP and POMGNT1. When I was in New York visiting Hilary, I received an email from Jack's neurologist that provided in part:

"it should not shock you that Jack's POMGNT1 and FKRP sequencing came back normal.  I have a rule that parents are almost always right about their children and you guessed this."

She went on to tell me that all the tests comment that "it should be realized that DNA sequence tests do not detect all types of disease causing mutations.  Nucleotide variations in non-protein coding regions as well as whole or partial gene deletions and duplications may not be detected by this method."

During Jack's short lifetime, we've gone from an initial muscle biopsy finding of "myopathy, active chronic", to a finding of reduced alpha dystroglycan, to an official diagnosis of dystroglycanopathy congenital muscular dystrophy, to DNA sequencing to rule out four known genetic mutations for dystroglycanopathy CMD.  Amazing!

Jack's neurologist assured me that she would talk with one of the top researchers in the field of muscular dystrophy (Dr. Kevin Campbell at the University of Iowa) about Jack's lack of genetic diagnosis and discuss other research avenues.  I assured her that if Jack has taught me anything, it's that I won't get most my answers this side of heaven.

As I sit here today,  I have my much sought diagnosis and I'm certain that I could find many articles on PubMed discussing Jack's specific disease if I felt like reading up on it.  But the fact is, you lost me back in 2005 when I first heard the words "muscular dystrophy".  While I appreciate the fact that Jack's neurologist is being persistent in trying to find out as much as she can about Jack given today's technology, I'm no longer interested in getting all the information.  I really don't need to know what Jack's specific genetic mutation is.  It doesn't change a thing for Jack.  However, I realize in the big picture, it's important to study Jack in order to help others with his disease in the future.  So, to the extent Jack's brilliant neurologist and the researchers in Iowa (and elsewhere) want to continue to unravel the mystery of Jack, we will support them.

After all, my kid has muscular dystrophy, whether I like it or not.

Anybody Home?

Yes, we are home and all is well. I know I haven't updated in a while and it's simply because I don't have anything to update about. After the last two weekends of travel (which I absolutely enjoyed!) I'm content to just be hanging out at home doing a whole lot of nothing. Well, actually, I'm doing a lot more than a lot of nothing, but it's certainly nothing exciting (it's fun stuff like cleaning bathrooms, scrubbing floors, laundry, dusting, more laundry . . . )

As I sit here today, life is GOOD.  No sick kids, no complaints with nursing agencies, DMEs or insurance companies.  I've had some much needed time away, it was great to see Hilary, the other kids are on Fall break and things are going well.  I know better than to spend too much time worrying about when all good things will to come to an end because then I just end up missing out on enjoying all the good things.

So, enjoy I will.

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A picture Eric drew ... one thing in particular stood out to me. Any guesses?

Apparently, after Jack dies ... according to Eric, he's still stuck in his wheelchair! I think Eric needs some RE (religious education) classes pronto! Hey Jenny, do you teach correspondence courses? :)

Have a great week everyone.

Carpe Diem!

Weekend in Rochester

Well, I had to break down and get a YouTube account because there is no other way to share the videos I create using the Mac on Blogger other than by YouTube. Frustrating! I took a lot of pictures this weekend with Hilary and it's easier to share via a slide show than uploading all the pics. I thought it would be fun to spice it up with a little Vivaldi. Enjoy!

(Unfortunately, you lose a lot of the vibrancy in the pictures when you upload them to a slideshow/video. Hopefully, you get a good idea of all the reds and oranges that are everywhere - it's spectacular).

It was a great weekend and I think Hilary enjoyed seeing us! She is definitely happy here and seems to really be enjoying her classes. I don't think she's feeling too homesick - which is a good thing, I guess.

I'm anxious to get home and stay home for awhile. All this traveling is exhausting and a pain in my rear - literally. I'll share more on that later.

On The Road Again

Mary and I fly out to New York tomorrow morning to spend the weekend with Hilary.  I'm excited to see Hilary and to get to spend another weekend enjoying beautiful Fall weather. We plan to visit Niagara Falls while we are there too.

There's not much to report on here at the Ranch.  All is well ...  everyone is healthy (knock on wood) and happy.  The kids have a 2 1/2 week Fall break starting next week, which should help cut down on the risk of getting sick for awhile.

Between Blogger and the Mac, I'm so frustrated right now. I wanted to share a video I made using iMovie (those of you who are on Facebook have already seen it). But, Blogger fails every time I try to upload it and iMovie won't let me upload the movie to OneTrueMedia.  Arg! I purchased a program that will allow me to legally convert the iMovie to a format that I can upload to OneTrueMedia, but after downloading the program, I can't find it on the damn Mac! Double Arg!  I could upload the movie to YouTube, but I'm not a big fan of YouTube.  I think it's just too big and too much exposure.

So there you go, I've got N-O-T-H-I-N-G for you.

I'll update from New York - with pictures of course.

As always, thank you for checking in.