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Welcome to Coleson's blog. We've created it to keep friends and family updated on the journey we are about to embark on.. We appreciate your support and words of hope and encouragement during this time when it matters most.

Tuesday, July 28, 2015

The Good, the Bad and the Ugly

I believe I had a prior post with the same title… C’est la Vie! 

As promised, a medical run down of our week in Minneapolis.  You’ll know why I separated these posts about half way through it. 

 The Good
Our week started with fasting labs followed by a consult with Dr. Wes Miller, Coleson’s BMT Dr.  I feel consult is a more appropriate description for out visits and none of our appts. are straight forward.  There is a lot of back and forth and decision making that happens within these windows of time and I need to take full advantage of the time we have with these Dr.s in person.  It’s hard to have your medical “team” be 2000 miles away from you.  We do have local counterparts here for many of the areas but the Hurler experts are in Minnesota.  Remember Coleson was the first BMT Hurler patient in the valley in the last 20 years. 

Wes (yes, we are on a first name basis with our Dr.s) thought he looked great! His chemistry was all in “normal” range. It will be a few weeks yet before we get his engraftment and enzyme levels which I am always anxious to receive.  Last month we saw our local Phoenix geneticist and they took GAG & Antibody levels.  These 4 tests are the key indicators of how Coleson is doing from a “Hurler”/BMT view.
Wes Miller - much better photo than 2 years ago.
Engraftment - means what percent of “Jacob cells” (I no longer need to refer to them as donor cells) he is producing.  He was 100% last year and of course what we hope continues.

Enzyme levels – the amount of enzyme he is producing (0% = Hurler), and he was within normal range last year at 49%.  The higher the better for this normal to eat away at some of the GAG (build up in his body that occurred pre-transplant that wreaks havocs on joints, bones and muscles).

GAG – As mentioned above the amount of “Stored” build-up in his body.  He was at 85 last year and post-transplant has held steady at 5 for the past 2 years.

Antibody Level – Is he building antibodies against the enzyme, rendering the transplant not effective?  This came back negative (which is good).

 We talked about continued Enzyme Replacement Therapy and he felt that is still very beneficial and according to a recent study that U of Minn participated in, the more enzyme circulating in the blood stream the better.  So for now, he will continue.  We even got a half way decent photo with Wes, nurse coordinator Teresa and Paul Orchard, the head Hurler BMT Dr. at the U and is highly involved in the clinical trials and advancements in Hurler and Storage disorder treatments.  I will never forget his email response to me on that Sunday afternoon!


Paul Orchard, BMT, Paul and Coleson with his Recycle Truck
We had X-Rays, EKG and Echo next.  I say “we” as I often have to hold Coleson during everyone one of these procedures to keep him calm.  He really is a trooper no doubt but can you imagine, we are already at our 5th “procedure” on our first day and it’s not even noon!

 
 
 
 
 
 

We will miss Teresa!  Good Luck at NP school.

In the afternoon we had neurology and cardiology consults.  Neurology was painless but the wait was not!  We were in the room for 45 minutes before thankfully a music therapist showed up and Coleson got to take out some much needed energy on the drums!  He loves the drums.  Another 15 minutes later, the neurologist arrived and gave him a gold start.  He doesn’t show any signs of nervous system or brain impact.  He actually is quite smart!
The cardiologist consult was the last of the day and overall his heart condition was great!  He has minor thickening of the mitrial valve but it is not impacting his heart function…but

 The Bad
… I was hoping his PDA had closed on its own but this was wishful thinking as she confirmed it was still there, not surprising to her, and we were still on schedule for his heart surgery to fix the PDA on Wednesday.

Tuesday was an earlier morning and I pulled Coleson right out of bed and into the car where he promptly said, “No hospital, No hospital!”  Broke my heart and we were only starting day 2!   I promised him no “owies” though I am not sure how honest I was being considering we started the day with a 4 hr. neuropsych evaluation.  It is one of the most dreaded appts. for me, nothing like over analyzing everything your kid does/doesn’t do.  However, for him, hopefully it feels more like playing.
 
The Good
However, I guess the 4 hr. duration was worth it as he made progress in every developmental area, even his receptive/expressive communication which is the one area he had been a little lagging in.  They stressed the continued need for speech therapy for his enunciation and OT for his fine motor skill development.  He scored average in both areas while his cognitive scores were still above average (he can count to 100 already!)  I often wonder what he would have been like had he not had Hurler but these are fleeting thoughts as there is no purpose on dwelling on the what ifs.  We quickly squeezed in a pulmonary consult which happens to be on the same floor where which he sailed through with flying colors, despite the respiratory scare we had the week before. Then we were off to St. Paul to Gillet’s Children’s hospital for a hand ultrasound (to check for carpel tunnel) and a consult with the hand Ortho.

 Technical Solutions Difficulties (the bad)
When we checked in, we were handed a tracking device and a buzzer similar to what is used for restaurant wait lists.  As the newly named Director of Contracts Technical Solutions, I am always impressed with new technology that better enables a process.  After waiting 45 minutes without a "buzz", I waited in line for the receptionist.  There was only 1 of her and 3 of “me” in line so it took 30 minutes to get to her.  By that time we had missed the consult with the Dr. and when I handed her my tracking device and buzzer, she informed me that the buzzer had not been assigned correctly!  As you just read, we had already been through 5 hrs. of appts.,  travel to 2 hospitals and an 1:15 hr. wait. I was not happy to say the least!

Customer Service (the good)
However, the receptionist provided great customer service which always makes these things a little easier - right HW colleagues?  J and got us right into the Ortho for our consult and based on her range of motion exercises with Coleson determined that his wrists, elbows and shoulders had actually improved and we could skip the ultrasound!  I guess it was worth the wait to skip another “picture taking” session!

Are you exhausted yet?  We are only on Tuesday people!

The Ugly
Wednesday started early, with a 5:00am wake-up call and a 6:00am check-in time.  After the usual 1:30mins of pre-op, meeting with the Dr.s, nurses and anesthesiologists (who I have the utmost respect for!), he was taken back to the OR.  It never gets easier no matter how many times we have been through this routine.  It is comforting to see familiar faces, although I would be happy if I never saw any of the surgical team ever again!  J  Its funny how even the smell of the surgical ward is familiar... and we have our typical routine.  I struck a conversation with another mother whose son was getting his adenoids out, a first timer.  I feel like a pro at the waiting room protocol and let her discuss all of her anxieties, nervousness, etc…  Only then did I tell her that this was at least number 10 for Coleson (I have to finish documenting all of his surgeries to be sure and how do I count multiple procedures at one time?)   

 He was supposed to have an MRI after the procedure but they failed to realize that they would be inserting a metal coil into him for his PDA and putting him into a gigantic magnet right afterward may not be the best idea!  I thought perhaps we would escape the MRI this year but since he is participating in a trial for the intrathecal enzyme therapy, it is required… after all the intent of the intrathecal is too deliver the enzyme to the brain.  So unfortunately we will have to follow up in Phoenix with an MRI after the tissue has formed around the newly placed coil (6-8 weeks).  Though the procedure itself is fairly low risk, the recovery from it is difficult.  He has to lie still, strapped to a board for 4 hrs. while the blood clots around the incision areas (one in the vein and another in the artery in his right groin).  It took him longer to wake up from this surgery than prior surgeries and I was getting anxious to get back to him post-op.  I always forget how cold it is in the PACU and we were there for 4 hrs.  Longer than required as they needed to one last echo to ensure the coil stayed in place and though they called the echo tech @ 1:00, they didn’t arrive until 2:00, just my luck the tech was training so not only did we have to wait for her to do the echo, he got a “bonus” echo by the trainee (Just our luck).  No problem if this had occurred during the 4 hr. lie motion less post-op but this was hr. 5 and all 3 of us were getting a bit restless.   We still had to be careful of his incisions and as we arrived at Janna and Steve’s for dinner and he comes running out of the car I mention how I have to ensure blood doesn’t start gushing out of his incisions!  You would have never known that he had spent from 6:00am to 3:00 in the “surgical process” besides the gnarly bruise and the new “beauty marks” (scars)!

What day are we on again?!

The Bad
Ah yes, another pull him out of bed right into the car for the audiology testing.  I was hoping for good results since the ABR he had in December showed normal hearing activity and his vocabulary and communication skills have improved greatly.  However, the pressure in both ears was not equalizing and he does have fluid in his left ear (his eustachian tube is not as vertical as it should be).  So they only got one recordable event which happened to be normal range but recommended he get tubes in his ears again (3rd time is a charm)!

Next stop endocrinology with a new Dr.  Dr. Polgreen who had seen the Hurler kids for years left to go to California to do research and clinical trials for Hurler.  I was skeptical to see Dr. Miller (Brad– not Wes) but was pleasantly surprised and really like him.  He was so good with Coleson and explained everything very thoroughly, though it did confirm that the thyroid medicine that Coleson has been on for about 3 months is keeping his TSH levels in normal range (which is a good thing) but just confirms that he has hypothyroidism.  I was hoping his TSH would be too low and would indicate Thyroid medication is not needed.  It’s not the end the world but it is a daily medication… for which I have found a new transport vehicle… Reese’s Peanut Butter Cups!  The crushed pill sticks to the PB and he is none the wiser!    

 The Good

Other than the above news, he is growing according to the chart and actually gained a %.  He is now on the 2% growth curve!  We talked in great detail about Growth Hormone, a controversial topic and one that we do not need to get to deep into yet.  We traveled to the Spine Center to see Dr. Schwender, neck and spine ortho.  This was probably one of the most positive consults.  After more “pictures”, Coleson’s kyphosis had improved from 42% arc to 15% arc.  That’s from all that swimming and climbing!  I tell you, he tries to do everything his sister does and she’s a daredevil herself!  Not sure if that is a good thing or not!  His spine and neck looks great and foresees no spine surgery in his future much to my relief… however, he also was formerly the hip and knew ortho and he prepared us for what Dr. Walker, our next appt. would be telling us, and what I knew but was hoping for a miracle would not be required…

 
The really UGLY
Dr. Walker (appropriately named considering he is a hip and knee specialist) was the appointment I was dreading the most.  Yes, even more so than surgery and neuropsych eval.  After another round of “pictures” (we’re getting good at bribing) we had a “extended consult” with the Dr.  It’s never good when your appointment is labeled, “Extended”.  We spent nearly 2 hrs. Discussing the surgery Coleson will need next summer, Pelvic Osteotomy and Proximal Femoral Osteotomy.  In layman’s terms, Hip Reconstruction, on both hips.   Basically, they will cut his hips and create a wedge and cut off another piece of his hip to insert into these wedges so that it completes the hip sockets.  At the same time, they cut his femurs and reposition the thighbone into the hip socket.  They screw a metal plate into his femurs (which requires another surgery to remove).  Sounds fun, huh?  Oh, then he will need to wear a cast from his thighs to below his knees for at least 4 weeks.  Ideally they will do both sides and both procedures at the same time.  These surgeries are fraught with risk.  They are cutting the very place where bone marrow is made with high risk of blood loss and transfusions required, potential of the bone dying (and therefore not ever growing), spinal injuries (from being sedated & intubated for so long), infections, etc.  They have 2 surgeons working on him at the same time to reduce the surgical time and hook him up to electrodes to monitor his central nervous system.  Did I leave anything out?  Oh, yeah, that outside of the BMT, this is probably going to be the most stressful, worrisome procedure he will need to have.  And we will do this in Minnesota so we will be living away from home for the summer again.    Though I love the RMH, I do not want to live there again necessarily.  It has its pros and cons and it was there when we needed it most, but I think for this procedure, it is better for Coleson and our whole family to be somewhere I can protect him better.


Anyone have a rental house in the Minneapolis area?  J