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.

Monday, April 29, 2013

Happy to be Home - even if it is only temporary.

So sorry to not have posted until now but I have not found a chance to do so since Coleson got out of surgery on Friday.  All the surgeries went well with the exception that the
anesthesiologist did have a difficult time getting a tube down his very narrow airway.  Hopefully this will start to open up after the BMT and ERT. 

We got called back to the recovery room right when they said we would at 2:20pm.  This was after all 6 procedures performed by various Drs.  Amazing their timing accuracy.  He was only happy being in mommy's arms for the rest of the night but did feel well enough to eat some macaroni and cheese, banana and a dinner roll.  He did spike a fever and his blood pressure jumped up so they gave him some antibiotic just in case he was starting an infection.

Saturday was ERT day, Hooray!  Doesn't seem like something to celebrate but it means he is starting to receive the missing enzyme.  It was more cuddling for most of the day but he did have a restful sleep during most of the 4 hr ERT transfusion. 

Meanwhile Paul and I got lessons in how to care for his Hickman port and G-tube.  Since the Hickman goes straight to his heart, we have to be super careful no bacteria or infection gets in the incision area or port.  So we have to flush the port daily and change the dressing every 7 days.  We also have to ensure he doesn't get it wet or pull it out.  I did the first flush and dressing change prior to leaving the hospital.  Paul walked me through the checklist and made sure I did not touch any unsterilzed surface.  If there is any risk of touching an unsanitzed surface (even accidentally touching my arm) we have to throw away the gloves and get fresh supplies.  We actually had to change the dressing again when we got home on Sunday (along with the daily flushing of the port) as the dressing seemed to be coming off.  We were a bit surprised that the contents of the dressing kit weren't exactly the same as the hospitals.  Tomorrow the local home health nurse will be coming over to train us again the kit from the local pharmacy.

Coleson was pretty lathargic sunday morning but seemed to brighten up when we got home.  He was smiley, running around, playing with all his toys and his big sister.  He was definately happy to be home as we all were.   The hospital sent us home with "patient" sock monkeys that have g-tubes and hickman ports so that Peyton and Coleson could play Dr. with them.  Peyton didn't seem too upset to see brother's owies but was a little disappointed that she couldn't help us flush his port or change his dressings.   She is good big sister.

Today was back to "normal" under the new definition.  Back to work, normal schedules, routine etc.  Of course our new normal includes the nightly port flushes, daily calls with drs./hospitals/insurance etc.  We have our first local ERT at Phoenix Children's this friday. 

Also, first round pass at finding potential donors is promising.  3 8for8 chromosone bone marrow donors (adults) were found and a few 5of6 chromosone cord blood donors as well.  Further analysis, testing etc. will be needed to identify which source will be used.  There are risks and benefits for each type. 

We are starting to prepare for the big trip back to Minnesota probably mid-June.  Trying to determine logistics/schedules for all of us.  We appreciate the offers of help from our Minnesota based friends and colleagues.  We will definately let you know what you can do to help.  If it's visiting with us, bringing us dinner at the hospital, sitting with Coleson while we take a shower, playing with Peyton or even borrowing some children's gear, etc.  It is a long time to be away from the comforts of home.

Friday, April 26, 2013

Long Day of Surgery

All smiles before surgery!
Today marks the first day of Coleson's treatment plan.  It is the day we've been waiting for since we received the diagnosis but a tough day none the less.  He is having 6 procedures today and will be under aesthesia for about 6 hrs.  So if there is a day we need thoughts and prayers, it's today.

He first is having a ERG - Electro Retina Gram - measuring the electrical response of his eyes and then an eye pressure exam.  Then he gets his Hickman port and G-Tube put in.  He also has another MRI and his first intretecal injection (to the spinal cord to get the enzyme to the brain).   Then he has to have his ear tubes replaced.  The left one is clogged due to the thick waxy fluid build up that is common in MPS kids. 

Yesterday we saw the PT/OT/ENT... QRST (just kidding) and Pulmonologist.  As far as his fine and gross motor skills he is right on track with a normal 18mo. old, however we know his progress will be halted by chemo/BMT so we need to start therapies and working with him pre-BMT to ensure he gains as much as possible beforehand.  Also the Pulmonologist said his lungs/breathing/respitory system seems strong though she did inform us of the eventual risk of Restrictive Lung Disease which is due to the smaller rib cage that will prevent him from taking deep breaths as he grows.  So he may not be able to run a marathon or exert himself like a healthy kid could...but perhaps he will follow daddy and be a golfer or horseman! 

The worst news we received yesterday was from the ENT who informed us of the clogged tube and also did some audio tests on him.  He has mild to moderate hearing loss in both ears and recommended we get the sedated ABR test to be certain the degree of loss.  We tried to schedule it for today since he was going to be sedated any way but they couldn't fit it in with the already very full day of surgeries/tests.  Since we don't want to sedate him more than necessary we will probably wait until we return in June to have it done.  She also recommended a sleep study to see if he has sleep apnea - another common MPS sypmtom.  As many of you know, he wakes up frequently in the night still..which means so do I.  Also as many of you know he has had hearing issues since he was born and I have not been happy with his ENT since it took 17 months to convince him to do the tubes in the first place.  I really feel let down that he did not take his hearing issues as seriously as he should and if he did, we may have corrected any hearing issues within the first months of his life.  However, I will try not to dwell on this for too long.

Everyone here is so nice and they really care for the familes.  In fact we were delayed at the ENT, missing our consult with the surgeon so the surgeon actually came over to the ENT's office to meet with us.  It is even in a different building! We also met another mother (not an MPS mother) in the OT's office who recognized us the other day at the cardiologist.  She is a manager at Bruegger's Bagels and gave us a free breakfast today.  This is the first breakfast I've had all week!  This is where I'm typing at the moment since Coleson won't be out until 2:30 this afternoon. 

We skyped with Peyton again last night and you can tell now that she is starting to miss us, especially her baby brother.  He was sleeping during our video call but she got a kick out of seeing him none the less.  At one point we thought she was close to crying but we reassured her that we were going to be home soon.  She is counting down the days with smiley faces on the calendar.  She seems so grown up.  She has told us all about her days playing with friends (it was Avery and Jocee last night) and what a good girl she has been.  I was her age when my mother was dying of cancer and finally did so soon after I turned 4.  I know she will have some memories of this time even later in life and so I get particularly emotional when it comes to the impact on her.  But I know she is a strong little girl and will be the best big sister that Coleson can have.    Here is a picture of our princess (princess Belle this day).

Princess Belle going to see Beauty and the Beast at Gammage Theater

We will be staying overnight in the hospital and he will have his first Enzyme Replacement Therapy tomorrow.  Another long day but again a day we've been looking forward to halt futher progress of this disorder.  Then we will be coming home... albeit temporarily.  We will be returning for the long haul in June perfect timing to miss the Arizona Summer and enjoy a Minnesota summer.. albeit from inside the hospital room. 

I will try to update again after he is out of surgeries!

Wednesday, April 24, 2013

and Rainy Minnesota

Well today the snow turned to rain.  We got "winter" yesterday, "spring" today and by the weekend are supposed to get "summer". 

Today was a good day.  We met with the neuropsychologist who assessed Coleson's development.  Cognitivly he is right on track for a 19mo old.  He has some delayed speech and some delay in his motor skills but otherwise doesn't seem to have any serious developmental delay.  It is expected that the chemo and BMT will halt some of his development but hopefully he will recover in these areas.  We will start occupational, physical and speech therapy and meet with all these specialist tomorrow.

We had a little bit of a break from the Drs. today and Paul even got to run along the river. 

We headed back to the hospital late in the afternoon to meet with the cardiologist.  His EKG and echocardiogram and x-rays all looked good.  He has a very small opening between the Aorta and Pulmonary arteries which is unrelated to MPS.  All babies are born with this opening but it typically closes within 48 hrs after birth.  His is very slight though and the cardiologist is consulting with another to determine if this needs to be corrected with surgery.  The cardiologist was surprised at how unaffected his heart was by the MPS (he must have gotten his father heart - not mine!).  There is some slight thickening of the valves but on the spectrum his is on the better side.  We left the hospital feeling good that at least he has a strong heart.

It was Bingo night at the RMH and Paul won on the first game.  He got Coleson some Hot Wheels which he is thoroughly enjoying. He is getting a bit bored of the few toys we brought.  It is amazing the number of prizes they had and they gave away all of them tonight.  Families who won multiple times received numerous prizes.  Which for these kids who are here for weeks/months at a time is so very appreciated and needed. Bingo is a weekly event and I am amazed at the donations that RMH receives.  It truely is amazing.

Peyton is having alot of fun.  We are so fortunate to have technology like Skype to be able to see and talk to her nightly.  She had fun at Grant's house on Monday and went to Rachel's friends Monday evening to play with her kids.  Tuesday she went to Issy and Quinn's house and played with stickers, Kim sent me pics, and Brody came over Tuesday night.  Today she had Gymnastics and my friend Andi's mom is watching her while Rachel is at school. I think she is having so much fun that I'm not sure she wants us to come home!  But I do miss her dearly and can't wait to be able to give her hugs.

Tomorrow is a busy day with all the therapies, the ENT and the pulmonologist.  Friday is the Big day.  He has surgery to place his hickman line and G-Tube as well as has a sedated eye exam.  He also will get his first inthrathecal injection and our first stay overnight.  Saturday he will have his first ERT and hopefully we will be able to go back to the RMH by Saturday night.. and home on Sunday. 

I have received several emails and texts over the week from friends, family and colleagues.  I truly appreciate everyone's kind words.  I may not get a chance to respond to all of them but do know how much they help me get through this.  Today was a good day but they won't always be good and it will be the emails and texts that I will reread again that will help in those times. 

Tuesday, April 23, 2013

Welcome to Snowy Minnesota

We left for Minnesota on Sunday evening after having to tell Peyton why Daddy, Mommy and Coleson were leaving but she wasn't.  She took it better than I was able to tell her, thankfully Paul stepped in to get straight to the point.  Basically, Coleson's sick on the insides and needs to go to the hospital... or in her words, Coleson's sick and has to go to hosbital.  I haven't left her for more than 1 night at a time since she was 6 months old.  Fortunately for many great friends and neighbors, she has plenty of play dates lined up to keep her from missing us too much.  Thanks to Richard, Sydney and Tate, we were able to leave the house and make it to the airport without too many tears. 

We were welcomed to Minnesota by a cold rainy and later on snowy day.  It's hard to believe we left 90 degree weather in Phoenix.  We arrived in our hotel at midnight and reported for our first day of evauluations, consults and tests by 8:30am.  We first spoke to Dr. Whitley, a metabolic geneticist who was here for the first BMT (Bone Marrow Transplant for MPS I) in 1983. He explained the differences in the MPS disorders and the treatment protocols for those that have treatments.  He was also the first to explain why MPS I is the only MPS with a BMT treament, which I have been curious about from the beginning.  Basically, MPS I is a double edge sword...it has one of the worst prognosis if left untreated, specifically neurologically and life expectancy, however it responds the best to BMT.  So though BMT is a drastic procedure, it is worth the risk for MPS I whereas the other treatable forms of MPS respond well enough to ERT (Enzyme Replacement Treatment) alone that they don't warrent the risk of BMT.  I don't know if this makes me feel better or worse... which is kind of how I feel after every consult we've had. 

After the geneticist we met with the BMT Drs.Orchard and Miller.  Coincidentally enough we were on the same flight as Dr. Miller from Phoenix to Minneapolis.  He was visting in-laws.  Dr. Miller spent about 2-3 hrs. explaining the protocol, the research, the schedule, the risks, the drugs, the bone marrow donor matching process, what to expect post BMT and just about everything else.  We are overwhelmed with information.  Fortunatly Paul is taking copious notes so eventually we can remember everything we learned.

We then met with with the neurologist who explained the neurological effects of MPS I and showed us Coleson's MRI and explained the risk of stroke.

Coleson had is first EKG on Monday, which of course he didn't like and also had to do more blood work. He has really little veins and thick skin which makes it hard for the lab techs to find a vein. After being unsuccessful locating a vein they had to bring in an imaging device to locate a vein.

Tuesday we woke to a beautiful sunny day that revealved a 4" blanket of snow.  It felt like Christmas... but in April!

We first met with the Anesthesiologist who also has been doing MPS BMTs since the beginning.  It makes us confident we are at the right place and in the right hands.  He also explained the complications of sedation and anesthesia with MPS patients because of their shortened neck, thicker tongues and smaller airways.  It is very risky to sedate and especially to put MPS kids under anesthesia but obviously necessary so should only be done by those familiar with MPS.  Hopefully after the BMT the airway will open up a bit and the tongue will become smaller and lessen the risk.

Then it was on to an echocardiogram and chest x-rays.

Then we spoke to a nurse regarding his Hickman line which is a temporary port in his chest that they will be able to administer drugs and draw blood from.  It will be how he will receive his ERT and chemotherapy among other things.  More risks, complications, precautions and care advice.

Lastly we spoke to a social worker who talked to us about "life" during the BMT process.. which is around a 4 - 5 month event.  She talked about the financial aspect, the emotional aspect, the family aspect etc.  She also took us around the BMT ward... which will be where we set up residence for about 50 days (20 pre-BMT and 30 post-BMT).  They are "closed clean" rooms with Hepa filters as the chemo will wipe away any immune system he has.  I have to say they really have tried to make it very comfortable for the families.  One of us will have to stay with him at all times since he is so little.

We were able to get in to the Ronald McDonald house on Monday which is really fortunate for us.  The RMH is AMAZING!  I loosly knew about RMHs and have donated leftover change from the McDonald's drive thru on occasion, but I have a new found respect for this charity and the volunteers that make this place a home away from home for families with really sick kids.  To be displaced from one's home for months and for the reason being a sick kid is very difficult.  This place does a pretty good job at trying to provide a home away from home.  And to be able to talk to other families who are going through similar situations is priceless.  In fact we met the parents of the only living set of twins with MPS I today.  I had read about these kids a week or two ago and to meet them and talk to their parents was inspiring.  They were diagnosed and had their BMTs at an earlier age than Coleson but they had significant challenges as well.  But their parents were so forthcoming with information and seemed so happy despite having two kids with Hurlers.  It gave me a lot of hope.

The RMH is located right near U of Minn campus (in fact right next to a frat house) so we went to Chipotle for dinner.  For a minute I was taken back to my college days, listening to the conversations going on around me... but my son quickly reminded me that I am a 30 something year old mommy with a sick kid when he had yet another blowout!  He's been having intestinal issues for the past 2 days burning through several diapers and outfits.  Fortunately laundry is part of the perks at the RMH so we have done a few sanitary loads already!

Tomorrow is a long day of neuropsych evaluations to understand where he is developmentally and what type of therapy he will need pre and post BMT.  And then we meet with the cardiologist in the late afternoon.    We are very overwhelmed and tired so hopefully this post makes some sense.

Tuesday, April 16, 2013

The Journey Begins

“Well it’s Hurler's!”  said the Geneticist late on Friday April 2nd, just 2 days shy of Coleson’s 18 month birthday.  I confirmed that Hurler's is MPS I.  "Yes,  any questions?" 

This was how we found out our lives would be forever changed.  (Mind you this was coming from the first Geneticist we saw who dropped the ball on the lab work/MRI several times.)

Since then it has been a whirlwind of phone calls with Dr.s, hospitals, insurance companies, friends and family.  I quickly learned that you can’t just rely on the medical system to handle the care of your child in a timely fashion and that as a parent you need to take charge of the situation.  Doesn’t leave much time to grieve, which may be a good thing. 

However I do feel confident that we are in the right hands and that Coleson will be getting the needed care and attention he deserves.    We will be starting his treatment regimen including intrathecal injections, Enzyme Replacement Therapy (ERT) and eventually a Bone Marrow Transplant.  Dr. Orchard and the University of Minnesota will be overseeing Coleson’s treatment and we will be temporarily relocating to Minneapolis (from Arizona) for 4-5 months. 

Coleson, Paul and I leave this Sunday for our initial visit with Dr. Orchard and his team for a week long of baseline tests on just about every part of his body, he gets his port put in and will receive his first inthrathecal injection (this is in the spine with the hope of getting the enzyme to the brain as regular ERT does not break the blood/brain barrier. 

They are currently testing to see if Peyton is a match for the bone marrow but chances are slim that she is both a match and a non-carrier of the recessive gene that causes MPS.  They don't seem worried about finding a match though.  There are bone marrow banks and cord blood banks to search from. 

I will try to keep up with regular status updates on this page and use "The Journey" page as more of a story format and Peyton's Pages so you can keep up with what is going on with her.  Afterall this is a family journey,  not just Coleson's. 

We thank all of my friends and family for the support they have given us thus far and for the support we will continue to rely on in the future.