Tuesday, July 23, 2013


Jack had the CT scan of his abdomen yesterday and I talked with the urologist today.  The verdict is that the stone has not gotten any bigger since the last scan in March - keeping in mind that it currently occupies more than half of the space in the collecting system of his right kidney. The urologist did say that the stones that are outside the kidney (because of the perforation that occurred during the first surgery last year) have moved to the pelvic area.  He tells me these "floating" stones aren't painful for Jack.  Call me a skeptic, but I'm not convinced that they are as benign as everyone says they are.  Nevertheless, Jack is having more good days than bad days at the moment and I'll take that.  If the kidney stone(s) had continued to increase in size, I was prepared to tell the nephrologist that we were going to discontinue the meds she has Jack on. I figured if they aren't doing anything to stop the stones from forming, then why be on them.  I guess we'll continue with the meds given the status quo.

That's the short and sweet update from here.



Monday, July 15, 2013

Cure CMD at the NIH

After having just spent two days at the National Institutes of Health for the Cure CMD conference, all I can say is ... Wow!  You can't help but be in awe as you walk around the campus of the NIH.  The place emanates brilliance (and security).  One of those brilliant minds is Dr. Carsten Bonnemann. Dr. Bonnemann works closely with Dr. Anne Rutkowski (Co-Founder of Cure CMD) and he is instrumental in helping Cure CMD carry out its mission.  Notwithstanding his brilliance, Dr. Bonnemann is humble, he is kind and and he is approachable.  He spent the first evening of the conference hanging out with families, answering questions and even looking at an MRI scans brought by a family who traveled from South America to attend the Conference!

My intent in attending the conference was to meet several CMD families who I've only known via email and Facebook.  I wasn't disappointed.  It was such a great experience to not only meet the families I'd connected with online, but to also meet other CMD families, as well as physicians from several top Children's Hospitals across the country, physicians/researchers from Europe, and the geneticists/researchers who work with Dr. Bonnemann at the NIH.  The brilliance factor was off the charts! It was a privilege to participate in such an awesome conference held at such a remarkable venue.  

A few pictures of the NIH campus:  

Lobby of the main clinical building

elevator doors

I loved this quote on the wall of the auditorium named after its author:

Hospitals with long 
traditions of excellence have 
demonstrated abundantly that 
research enhances the vitality of teaching; 
teaching lifts the standards of service; and
service opens new avenues of investigation


Short Jack update:

Jack has his repeat CT scan next week. I had to move it up because the last few weeks he has been experiencing pain and is not tolerating sitting in his wheelchair.  His urine output is also down, which has me concerned that the stone may be blocking things.  I'm not looking forward to where this might be heading.  I'll update after the CT once I know more. 


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.