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, May 19, 2014

T+292 Angel Wings come in 3s

Today is a sad day in the MPS I family as two Hurler kids earned their Angel wings.  One actually was an adult but she had had a transplant as a child.  I didn't know of her but she must have been one of the first to have had a transplant.  She was 27 years old.  It gives me hope that the woman made it into her mid-20s but at the same time it is a reminder that the BMT was not a cure, just a life extender.. and for how long, no one knows.  In fact, I don't know how old the "oldest" Hurler kid has lived to be.  She may have been it.  The other ones that I am aware of that are Hurler and had transplants are in their early to mid-20s.  She passed from complications with surgery, I don't know what kind of surgery.  These kids undergo so much trauma in their life from the BMT to multiple surgeries, sedations, etc.  The body can only handle so much.

The other was a 10 month old baby who was 27 days post transplant at University of Minnesota.  Baby Vincent's death hits me particularly hard as it was just 9  months ago that Coleson was at that mark at the same place.  I was in contact with his family in the beginning and was planning on seeing them when we go for Coleson's 1 year in July.  To see pictures of him, in the same hospital PJs, in the same hospital room, with the similar looking facial features is very surreal.  That could have been Coleson.

As you read this, Coleson will be in surgery to remove his Hickman line and get his port.  Please pray he endures yet another sedation, another surgery.  I remember thinking when he got his inguinal hernias repaired at 10 weeks old that I hoped it was his last surgery.  Boy, how I long for just the "simple" surgeries of a hernia repair!  I wear very different glasses now.

They say things happen in "3s" so in other sad news, a colleague's husband passed away last week after what I can only describe as an extraordinary fight with appendix cancer. He was diagnosed soon after Coleson was born.  There should be a picture of Joe Kahler in the Hall of Cancer Fame.  His Courage, strength, determination and his love for family is what I will remember most about Joe.  He put a check next to many items on his bucket list even after diagnosis that many would not have.  

On a positive note, Coleson was weaned off Potassium today and tapered off 1 dose of his BP medicine. He also has been switched to monthly Dr. consults with bi-weekly labs.  This means I only have to go to PCH once/month and get his labs done at the PCH clinic in the east valley making that trip a lot shorter.

Please hug your kids, your spouses, your siblings and other family members today and be thankful every day for what you have.  I know I am!

Tuesday, May 13, 2014

T+286 Wear Purple on May 15th for International MPS Day

This Thursday is International MPS Day.  Wear purple in support of Coleson and all other MPS families.  
Also, today was Coleson's last dressing change. Hooray!  Next Tuesday (5/20) he goes in for his line removal and port placement.  He will finally be able to take a real bath and go for a real swim!

Here is a short You Tube video narrated by Alec Baldwin on lysosmal disorders.


Here is some info on MPS as provided by another MPS mother.Thanks Amber Mongan

Treatment for MPS I (Hurler syndrome): Successful HSCT (Hematopoietic Stem Cell Transplantation) has been performed for children with Hurler syndrome since 1980. The immediate benefits include correction of the enzyme deficiency and clearance of glycosaminoglycans (GAGs). Long-term benefits include the possibility of long-term survival by protecting the heart, lungs, and brain from the effects of progression of the MPS disorder. Other organs and tissues can also show benefits from the HSCT; these include the eyes and ears, liver, spleen, joints, airway, etc. However, it should be noted that many children are still requiring a variety of orthopedic surgeries despite a successful transplant. While the term “cure” should not be used, HSCT has the longest track record of any effective therapy for Hurler syndrome, including the ability to preserve cognitive function and development in the normal range. 

Brought to you by Be The Match: WWW.BeTheMatch.OrgA bone marrow or cord blood transplant is the only treatment that can stop the effects of Hurler syndrome at this time. A bone marrow or cord blood transplant begins with chemotherapy, with or without radiation, to destroy the diseased cells and marrow. The transplant replaces diseased blood-forming cells with healthy ones.
The type of transplant used for Hurler syndrome is an allogeneic transplant. This type of transplant uses healthy blood-forming cells from a family member, unrelated donor, or umbilical cord blood unit.
For an allogeneic transplant, a patient gets chemotherapy, with or without radiation, prior to transplant to prepare his or her body for the treatment. Then the replacement cells are infused into the patient’s blood stream. From there, the cells find their way into the bone marrow, where they start making healthy red blood cells, white blood cells and platelets. These new cells have the enzyme needed to break down GAG and stop further damage to the body.

It is because of the shortcomings of the current treatments (and the lack of treatments entirely) that organizations such as The National MPS Society, Hunter Syndrome Foundation, Team Sanfillipo, Hunter Syndrome Research Coalition, Ryan Dant Foundation, and numerous other parent based organizations exist. If it were not for the willingness of families to not only say “Something has to change” but also to stand up and do something about it, doctors like Emil Kakkis would have lost funding for research before they were able to bring a treatment to reality for us. These family organizations work not only at funding promising new research, but also at advocating inside of the FDA and congress to educate on MPS, and negotiate the best ways to bring safe and effective treatments through the system as quickly as possible so that families can gain access before it is too late to help their child.
This year International MPS Awareness Day falls on a Thursday (May 15th) so many families will be celebrating with fundraising events today. The success these events translates to saving the lives. It translates to hope. So make sure you ask the MPS Family you love how you can help give them hope today.
“What we needed was one day. Whatever money you could raise in one day, somewhere somebody could use it.” -Mark Dant  MPS I HS Dad

Friday, May 9, 2014

T+283 A Mother's Day Surprise - a Gift from Strangers

I know... you don't hear from me for 3 weeks and now 3 posts in 1 week!  I was just so moved, not once but twice in the past 30 minutes that I couldn't wait to post for fear that I would get too busy again and not share the beautiful gift that Paul and I received today - mostly from strangers!

First a dear colleague of mine (you know who you are) honored me with a donation to the RMH in my name for Mother's day.  It is the best Mother's day gift that I could receive (well, with the exception of a miracle)!

Secondly, an envelope was delivered today and inside several very generous gifts from complete strangers, spearheaded by one of Paul's dearest friends (again, you know who you are!)  I am literally shaking from the generosity of these people who have not met us nor Coleson, but only know us through the stories of our dear friends (and perhaps/hopefully this blog).  And these friends have already done so much for us, in so many different ways.  If those 16 families read this blog, I sincerely thank you, and to O&C, words cannot express how appreciative we are.  You have made this Mother's day, the best I've ever had.

To all you mothers, I hope your special day is/was as good as mine.  I have met some amazing mothers this past year that will stop at nothing (even the US Gov't and health care system) and who sacrifice everything for their children.   And of course, I already was surrounded by amazing mothers both professionally and personally that do the same for their children day in and day out.

Happy Mother's Day!

Thursday, May 8, 2014

T+282 Oh Peyton

It's time I dedicate one of these posts to my other Hurler kid, because when you have one special needs kid, all of your kids have special needs.  You have to work extra hard as a parent to ensure that all of your kids feel like they receive the same amount of attention as the one that requires the special attention.  I have to say, Peyton has been the best daughter and big sister in the world...of course I'm biased! Precocious Peyton, aka Miss P., aka Sweet P, aka.. many other special nicknames, has taken all of our life adjustments in stride. She is curious about all of the medical stuff and loves to go to the hospital, play with the OT, Connie, get her blood pressure taken, her heart rate and all the other medical things that Coleson "gets" to do.  She is sad when she doesn't "get" to do them with Coleson.  
Besides being the best big sister patient ever (and wanting to be a nurse or a doctor), she has become an amazing swimmer, gymnast and horseback rider!  Since heating the pool this winter (knowing this is one thing Coleson will eventually be able to enjoy), she has become a fish!  Or rather a mermaid.  She swims back and forth the length of the pool, under water the short ways and above water the long ways.  She can dive down and get a small key ring off the bottom of the floor as well.  
She has gotten to "ring the bell" at gymnastics a few times recently and her fearlessness enables her to try all the scarier tricks.  You should see her bounce around our house from the balance beam to the back of the couch to the trampoline to the crashpad.  Our house has become a min-gym, mostly to help Coleson's gross motor skills but Peyton obviously loves the new equipment as well!  I think I've already mentioned how she has aced the monkey bars and has the blisters to prove it!
She also is starting to ride her horse, Tony, all by herself; completing turns and stops all on her own, much to Paul's delight!  We don't own Tony but I can predict we'll be buying another horse in our future.  A new horse is nothing to Coleson's yearly medical bills after all!   
And lastly she is just finishing her first year of school where she has made several friends.  She aced all of her objectives and the teacher commented that she is very compassionate.  And I agree.  She always sticks up for her friends (in a nice way) and mediates any disputes.  She shares very well.  She also wears her heart on her sleeve and does get very hurt, "Mommy my heart hurts" when someone says something mean to her or doesn't want to play with her.  She will do anything for her friends.  Her teacher also mentioned what a good story teller she is.  And she is, although she likes to tell stories when she really shouldn't as well.  She does have quite an imagination though.  And the things she says continue to crack me up.  Sometimes I have to laugh before addressing the reason she's upset from some of her comments.  If my memory was better, I'd give you more examples, but it's pretty much turned to mush!  She also sometimes breaks out in a British accent like Peppa Pig.  She always sounds much more polite when she does this!
Thanks for letting me post (Ok, Brag) about Peyton.  Don't get me wrong, she does have her moments, but overall I am so proud of her.  I know how hard it was for me as a little girl to adjust to some of my life's big adjustments and though she does get frustrated with Coleson every now and then (what siblings don't?!), she really has weathered this storm very well.  I hope she continues to do so as the storm ebbs and flows for the rest of Coleson's life.  

I don't condone climbing on play structures!
Everything is subject to climbing!

T+280 40 Weeks - the first and the most recent

40 weeks... The gestation period for humans.  A time in expecting parents life that is riddled with emotions, anxieties and excitement.  I have to admit my first 40 weeks with Coleson were a lot easier than these past 40 weeks.  I was, in my opinion, a pretty relaxed expectant mother with my second pregnancy.  I naively wasn't worried about the baby being OK, we hadn't known the sex of our baby, wanting it to be a surprise. My second pregnancy was much like my first, both were born a little over 1 week early, they were within 1 oz. of each other, Coleson being bigger.  Of course they were very different babies.
This past nine months however have been a different story. I am no longer "naive" about what can happen to innocent children.  Now I am quite aware of the tragedies that can happen to children, either at birth, as toddlers or as adolescents or teenagers.  I see it day in and day out, from living at the Ronald McDonald House or going to the hospital or reading on facebook.  I've seen all kinds of cancers and anemias, babies born severely pre-maturely, kids who need organ transplants who know that for them to live, someone else must die.   "Butterfly" kids (EB) who have to be bandaged day in and day out, meningitis and SIDS survivors and others.  Kids with all kinds of hardware and tubes attached to them keeping them alive.  Bald heads and heads covered with hats or spunky colored wigs.  Wheelchairs and braces supporting them.  Kids who face chemo and radiation, and even isolation. Surgeries, BMTs, Transfusions, therapies and medications.   Kids who survive and some that don't... all equally courageous as they put up the fight for their life.. quite literally.
I wasn't a Facebook fan until this all happened with Coleson and now I find myself swiping through my news feed reading up on all my new special friends looking for something I know I won't find... a miracle.  I swipe with vigor hoping to find a post of a Hurler child who has not had dozens of surgeries, hospital stays, therapies etc.  I wish I had more time to enjoy the everyday posts but right now I'm focused on connecting with all the other Hurler families and learning from them.  As well as keeping up with good lifelong friends we've met along our way.
Speaking of, two of our RMH families who both had been residents of the RMH for  2 years (yes, 2 years) are home or going home soon.  Cash was 5 weeks old when he was found not breathing in his crib and was resuscitated.  He spent 690 days in the hospital before finally returning home just in time for his 2nd birthday.  Another family, here from Saudi Arabia for their eldest daughter's cancer.  Coco and younger sister Nana were Peyton's best friends at the RMH house.  They arrived in the US in January of 2012 and to the RMH in March of 2012.  They have just been given the green light to return home.  Peyton will be sad that they won't be there when we return in July but I am so happy for them.  Now what does that say about the value of a RMH!  I still say it's priceless!  And oh, BTW, both families gave birth to another child during their stay. On a side note, I currently have nearly 20 lbs of soda tabs ready to deliver to the RMH.  Thanks to all for collecting them!  We leave in early July for our trip to Minnesota so please collect and drop off as much as you can before then. We'll be driving so we can actually take them to "our" RMH.

Coleson has had C-Dif for the past couple of weeks so he's back on antibiotics but otherwise his counts remained fairly stable from 2 weeks ago. We are making progress on weaning off some meds.  He is scheduled for surgery on May 20th to remove his hickman line and replace it with a port so he can finally bathe and swim in our pool.  This makes surgery/procedure #6 (although some of his surgeries were multiple procedures in 1 so it's really higher than that).  As always the scariest part for a Hurler kid with a narrow airway is the sedation.
March's Meds
May's Meds
Lastly, MPS Awareness day is May 15th.  I'll blog more about this specifically over the next few days.

Tuesday, April 15, 2014

T+266 Caught Offguard

"I'm sorry for calling your son a monkey" came the apology from the 10 yr. old girl.  Coleson and I were at McDonalds yesterday while Peyton was at gymnastics.  He hasn't been able to go many places beside children's hospitals and other places were looking different is the norm so I was caught off guard by the apology.  I hadn't heard the girl call him that, but I had witnessed the mother call her down from the play structure and talk to her just minutes before.  I hadn't paid attention to their exchange but then realized the mother must of overheard the kids or at least her daughter making fun of Coleson and made her apologize for it.   I hadn't practiced responses to such interactions.  I have coached Peyton through situations when she is curious about some one else's "owies" and had responded to others when they were inquisitive about Coleson but had not prepared a response for an apology for rude comments.  I fought back tears as I accepted her apology.  I know he must look a bit odd with all his hair and his unusual facial features but I only see a beautiful boy when I look at him and so I guess I was a bit naive to how he looks to others.  The girl went back to playing and I cringed at the lost opportunity to explain why he looked different.  As we were leaving another little girl (probably 5 or 6) asked why he looked so weird and I was able to tell her that he had been sick and the medication made his hair grow but that it was OK to look different.  Her Grandma patted her head and added that she also had unique characteristics since she was a red head.

I know this wasn't the first time he was made fun and certainly won't be the last, and I'm sure I will get used to it, but it took me by surprise for sure.  I won't let another opportunity escape where I can address the reason why he looks different.  Kuddos to the mother and grandmother who addressed the situations as they did.  I know there will be times where mothers won't reacted in the same educational/informative way.

On a happier note, Coleson's BMT doctor reduced some more meds and took him off 1 more as well as changed our appts. to bi-weekly instead of weekly.  I was starting to worry about his hemoglobin level last week as it was steadily marching down week after week and last Monday was at 10.1 (he needs to be at least at 11.5 to be in normal range).  However, all of his counts including his Hemoglobin (10.8) and electrolyte numbers were up this week.  He also had an echo last Thursday and though we do not have the official results, I'm thinking that if there still any concerns with the pericardial effusion that we would have heard by now.  We also talked about his Hickman line removal/port placement around Mid-May.  I'm looking forward to the reduction in hospital trips though I know they need to be replaced with other appts. now.

I also got to see 2 of my BMT mother friend's (Debbie and Kathy) last weekend.  It was nice to be in the company of people who just "know".  Though our kid's illnesses are different, we have the common bond of the BMT and going through such a life altering experience.

I'm hoping too as we round out this year that my focus will be able to shift from Coleson's immediate needs to doing more fundraising/awareness, etc.  I will soon start to utilize some of the other "pages" of this blog that I intentions of doing from the start.  It's amazing what we've been able to do for the MPS society and Ronald McDonald houses in at least 4 different states already without a real focus so I'm excited to start giving back and helping others that come after us!

Sunday, April 6, 2014

T+254 "Well It's Hurlers..."

"Well it's Hurlers" the geneticist said bluntly. The 3 little words I dreaded hearing. It came like a punch in the gut even though I thought I had prepared for it.

In the 3 weeks since first seeing the geneticist I had diagnosed Coleson myself with MPS. There are several symptoms and I could put a check mark next to almost every one. Also, thanks to my boss and her boss, I had gotten in to see another geneticist at Phoenix Children's Hospital, Dr. Aleck who was more experienced in metabolic and lysosomal disorders who also was very confident he had an MPS disorder, but we needed the official lab results for the type.  Despite all this, I still held out Hope that he didn't have MPS and that it was merely coincidence that he displayed some of the symptoms and features.

"Do you have any questions?"
"Hurlers" I said, "that's MPS I, right?" I wanted to make sure of the designation as treatments differed greatly between types.
"No, no other questions".
The geneticist kept speaking but I didn't hear another word.
That phone call that lasted less than a minute would forever change my life.

With those 3 little words I was thrust into the category of "Super Mom", a title reserved for only the bravest of mothers of kids with special needs like Nikki, Laurel and Aggie. I didn't belong in this group. Somehow I had reasoned that their kids were born to them because they possessed super mom powers. I held those mothers on a high pedestal. I did not possess such powers and certainly did not belong on the same pedestal.

There was no time to grieve for the normalcy that was lost. I had done my research in preparation that it was Hurler's and knew that it was critical to get the BMT done before the age of 2 to prevent cognitive decline. There were only 3 hospitals that were experienced in BMTs for Hurler's and U of Minnesota had the most advanced protocol which included an experimental treatment (trials) of 4 inthrathecal injections of the artificial enzyme into the spinal cord in order to get the enzyme into the brain. They also used the other near term treatment of ERT, artificial enzyme replacement therapy, prior to BMT which was not offered at all hospitals. This would immediately get the missing enzyme into his body prior to the BMT, but it would not pass the blood/brain barrier which is why they were trialing the inthrathecal method. Logistically, none of the hospitals were local so we would have to temporarily move for 5 months to have the BMT. There was no time to even worry about this yet. We just needed to get Coleson the Best treatment available.

I emailed Dr. Paul Orchard at University of Minnesota on Saturday and by Sunday he had emailed me back twice, with his entire team on copy. A BMT doctor emailing me on a weekend?! I knew I had made the right choice in Drs./hospitals. Up until then, I had felt all of Coleson's Drs. here had failed us. He had seen several, his pediatrician, his surgeon, his ENT, the first Geneticist (the one who delivered the bad news), none of them had taken Coleson's symptoms seriously or reacted with any sense of urgency. In fact it took 3 weeks to get diagnosed because the geneticist dropped the ball on the lab work (and the MRI). Finally though I felt like we were in the right hands. On Monday, the intake nurse called me at 5:30 am on her way to work to brief me on what I needed to send her so we could arrange the grueling week long baseline testing and evaluation process.

When Coleson was diagnosed he was the only pediatric Hurler case in the valley. Hurlers and MPS belong to the "Rare and Orphan" diseases. The chance of having a child with MPS is 1 in 100,000 to 250,000. In Coleson's case, he was 1 in 5 million living in the Phoenix valley. There were a few other MPS families with other forms but none of the other forms go through BMT and unfortunately some do not have ERT available either. I felt very rare and orphan myself.

Ironically today, on the 1 year anniversary of Coleson's diagnosis, I learned and spoke to another potential Hurler family in the valley. They are in the agonizing waiting-for-the-lab-results stage. Fortunately Dr. Aleck can provide them with a little more guidance than he could us by using Coleson as a reference point.  This is the one of the positives about having a special child, there are numerous ways to give back and help others. Coleson's journey will help others who come after him just as we have benefited from those who have come before us.

I still remember my first phone call with a Hurler dad. Even though we were thousands of miles apart, he was able to give me some hope and lots of info about the journey we were just starting. With that call I felt a little less "rare and orphan". I was also lucky enough to meet him and his boys in person in Minnesota. Thanks Todd for that first conversation and for all the others as well.

This is one reason why I write my blog.  It serves as a historical reference for me and a way to communicate to the masses but also a guide for others.  This is the way the those of us in the Hurler family learn from eachother (blogs and facebook).  This is how I spend my free time, reading blogs and posts from other Hurler and BMT families. We are fortunate to live in a time with these resources and those that came 20, 10 and even 5 years before us did not have these invaluable resources.