Wednesday, July 03, 2013

Miscellaneous Stuff


Seven years ago today, I posted my first blog entry. This blog was originally started to keep family and friends updated on Jack's spinal fusion surgery that was taking place in St. Louis.  I originally played with Caringbridge and started to set up a page on their site, but then I discovered Blogger and the rest, as they say, is history.

This is my 802nd blog entry.

4388 comments have been posted over the course of the last seven years.

That's crazy.  And awesome.

We are loved and, trust me, all of you who read this blog and who comment here (or on Facebook) have carried us through the last seven years.

I've only downloaded my 2006-2007 entries into a blog book.  I really need to get the other years downloaded and the memories preserved.  The problem is that I want to save all my comments and those have to be individually cut and pasted into the blog book that is "slurped" into BookSmart - the program I used in the past to download my blog entries.  All I need is time.  Or to pay someone to do it for me.  I'm thinking the latter might be the more realistic option.

Thanks to all of you who follow, who read, who comment and who care! Needless to say, the last seven years have been quite the ride.  If you are interested in reading some of what I consider my "better" writing - I suggest reading the posts that I have listed on the right sidebar under "Blog Thoughts". They cover a range of topics and I think they are representative of this crazy journey we are on.

Cure CMD and More Travel:

I already shared this on Facebook, but for those who are not my Facebook friend, here is the link to an article from the latest edition of Quest (a magazine published by the Muscular Dystrophy Association).

Taking Aim at Congenital Muscular Dystrophies

The article is an interview with Dr. Carsten Bonnemann - a pediatric neurologist at the National Institutes of Health and an expert in the field of congenital muscular dystrophies. Dr. Bonnemann is the person who is trying to determine the genetic basis for Jack's form of CMD through whole genome testing.  Speaking of which, it's been eight months since we sent our blood off to be tested. I'm hoping we hear something soon. Not that it will change anything for Jack, but it's still information that I'd like to have.  We know Jack's subtype of CMD is a dystroglycanopathy.  There are several known subtypes of dystroglycanopathies.  Jack has been tested for four of them in the past and his genes for those known subtypes came back as normal.  I've been told that it's likely that Jack has his own unique subtype of CMD. I wonder if I'll be able to name the subtype if they discover which gene is involved?  I've got a few choice words I can think of to call it. :)

Next weekend, I'll be flying to DC to attend the Cure CMD Family Conference that is being held at the National Institutes of Health.  I was asked if I would be willing to sit on a panel at the conference and I agreed.  When I saw the conference schedule, I discovered that I'm on a panel with four MDs!  The topic is breathing management of individuals with muscular dystrophy.  Of those on the panel, I suppose I have the most practical experience on the topic. I'm actually looking forward to participating in the conference and I'm really looking forward to meeting the families who will be attending.

I have to share an example of the power of the Internet.  Several weeks ago, one of my friends on Facebook shared the link to this blog post: I Effing Hate Holland.  After reading this, I sent an email to the author because of the connection we have as moms of 14 year old sons with a diagnosis of muscular dystrophy. After exchanging emails back and forth and me sharing a little bit about Cure CMD and the upcoming conference - this mom registered and will be attending the conference!  I'll get to meet her in person and introduce her to some of the best of the best when it comes to diagnosing and managing CMDs.  How cool is that?

Why I Hate Meds

It's no secret that my claim to fame when it came to Jack was that he was never on any routine meds except for his morning pulmicort treatment.  Whenever I had to give Jack's history and "list of meds", the docs were always amazed that he didn't have a "list".  That all changed when the kidney stone reared its ugly head.  Now Jack is on several meds that he gets twice a day.  The problem with meds is that they all have side effects.  If you read the side effects of the meds Jack is on, there are some that we wouldn't know if Jack is experiencing because he can't tell us.  That breaks my heart.  Recently though, we've noticed that Jack's hair is really thinning.  That makes me sad.  One of Jack's claims to fame has always been his awesome head of hair.  Almost everyone who saw Jack (from his doctors to the woman who cuts his hair) would comment on what awesome hair he had.  Not anymore.  When I looked up the side effects of his meds, one of them lists alopecia as a side effect. Bummer.  I realize that thinning hair is the least of Jack's problems and I suppose if the trade off for losing your hair is keeping the pain of a kidney stone at bay, it's worth it.  But, it still bums me out.  Fourteen year old boys aren't supposed to be losing their hair.  Then again, they aren't supposed to be trached, vented, g-tube fed, immobile and wheelchair bound either.

Que Sera, Sera.


E Fischer said...

nihil omnino periit - but then you already knew that.

Dana said...

When will u be in town? U know Rachel and I are pretty close to DC. We will be leaving for vacation soon though.

Dana said...

Ann, also how do families get involved to send their child's blood off?