Wrapping up summer and planning for fall

Sarah and the boys during a ride
on the Eastbank Esplanade.
Sponsor a Child for a Cure Update

Wow!  A week and a half ago, we started asking for your help to raise money to sponsor a runner for the BioMarin MPS Society Run for a Cure on October 2.

Since then, with your help, we have raised over $1,020.  That is fantastic!  Thank you!

Sarah and I would like to raise $1,500 to support the MPS Society's essential research, family support and awareness programs.  But, more important than a specific monetary goal, we would love to receive even small contributions from as many of our friends and family as possible.  It would be great to know that our friends and family have got Ethan's back.  After all, if those who know about rare diseases don't donate, who will? 

To contribute, please send us an e-mail at <toddnsarah@q.com>, letting us know how much you can donate.  We will then send you our mailing address so you can send a check or provide directions for donating on-line.

Wikipedia has an excellent and clear description of MPS disease; this is what your donation will help to fight:

Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans - long chains of sugar carbohydrates in each of our cells that help build bone, cartilate, tendons, corneas, skin and connective tissue. Glycosaminoglycans (formerly called mucopolysaccharides) are also found in the fluid that lubricates our joints.

People with a mucopolysaccharidosis disease either do not produce enough of the 11 enzymes required to break down these sugar chains into simpler molecules, or they produce enzymes that do not work properly.  Over time, these glycosaminoglycans collect in the cells, blood and connective tissues.  The result is permanent progressive cellular damage which affects appearance, physical abilities, organ and system functioning and in most cases, mental development. 

The mucopolysaccharidoses are part of the lysosomal storage disease family, a group of more than 40 genetic disorders that result when a specific organelle in our body's cells - the lysosome - malfunctions.  The lysosome is commonly referred to as the cell's recycling center because it processes unwanted material into substances that the cell can utilize.  Lysosomes break down this unwanted matter via enzymes, highly specialized proteins essential for survival.  Lysosomal disorders like mucopolysaccharidosis are triggered when a particular enzyme exists in too small amount or is missing altogether. 

While the estimated incidence of MPS 1 (Ethan's type) is 1 in 100,000, the overall incidence of all MPS births is estimated at 1 in 25,000.  When you think about it, 1 out of every 25,000 live births, MPS is not as rare or uncommon as you might think.

None of this is intended to scare you.  We simply hope that you will come to understand that MPS isn't something that only happens to other people.  MPS is real, it is unexpected, and it is life changing for families.

Please commit to a tax deductible contribution today.  Thank you for your help in the fight.

And now back to our regularly scheduled programming. 

A Real Boy!
Over the last month or so, a few people have said of Ethan, "just like a normal three year old" (when Katie bit him),  "boys will be boys" (when he picked at the sunburn on his nose till it started bleeding), or "just like any three year old" (he's been a really picky eater) , etc..

The first time I heard it, it took me just a minute to process "normal three year old".  At first, I wasn't sure if I liked this idea of Ethan as a "normal three year old." Somehow, the description fit him, but only partially.  It took me some time to work through this.  I have come to think that Ethan is like a normal boy but with a few reservations, caveats, provisos and limitations. Basically, Ethan's a real boy, but he needs help and can be fragile.

On the plus side, Ethan's health and energy day to day have been fantastic.  He's active, he wants to explore, he wants to copy his older brother, he likes to play, smile and laugh.  Like any three year old, he's starting to be more picky about what he wants to eat.  And he's somewhat more confident and independent when he's in familiar surroundings.

On the reservations side, he's dealing with a number of limitations. Mostly, these are long-term limitations from the disease, not any residual weakness from the transplant.  He can trot, but he can't run; he can't jump; and he can't walk more than a block or two.

Cognitively, I tend to think he's somewhere in between a two and a three year old. That may be a little misleading though because he's non-verbal and he can't adequately express what he's thinking and processing.

The most challenging thing about "real boy" at the moment is that "three-year old picky eater" is intersecting with "kid on medications that screw with his appetite." So we're still having a hard time getting sufficient calories in him and keeping his weight stable.   It's not a serious issue yet.  When necessary, we've given him an appetite stimulant, and he's responded to that, eating more calories--albeit more of the same three foods that he will eat.

Caleb Update
I don't spend nearly enough time on this blog talking about Caleb.  He is an absolutely fantastic kid and each of us love him bunches!

Caleb had a pretty good summer vacation since he got back from Minnesota in June.  He spent four weeks at an outdoors camp where he learned about fishing, and how to be a forest ninja, learned how to do archery and how to survive in the wilderness.  He had a great time, and he still talks about it.

Once Ethan and I got back, the three of us were together during the day and Ethan and Caleb really bonded a lot more.  We played outside a lot and had squirt gun battles.

Also this summer, Caleb discovered the big wheel that we got him about a year ago.  He's had an absolutely fantastic time riding that all over the neighborhood and finding the biggest hills he can to ride down.

Caleb says that he's also had a great time playing with his model trains this summer.

Caleb started first grade this week.  He says he's enjoying it so far.  I notice that when he gets off the bus each afternoon, he's got a little bit more confidence and he's a little more self-possessed. it's really cool to watch.

I've said before that one of my biggest regrets about Ethan's diagnosis is the effect that it has on Caleb.  We spend so much time with Ethan and about Ethan, that I have always tried to encourage Caleb to explore activities that he might like and that would just be about him. I've tried to get him interested in soccer or baseball or swimming or karate, or football; really anything that he might enjoy that would let him expand his horizons and have something he could call his own. He's turned down each activity and each opportunity.

Part of me is disappointed that Caleb hasn't wanted to try any of those things.  But then I look at Caleb as a whole kid and I'm not too worried. The truth is that Caleb is a smart, considerate kid with a greater level of himself and those around him than most kids his age. He's developed that sensitivity and awareness to interact with Ethan.  They are very good skills for him to have and they will serve him very, very well as he grows up.

We're very, very proud of him.

Coming Up
Now that Caleb's back in school, we're gearing up to get Ethan back into speech and occupational therapy.  Ethan, Sarah and I just participated in his annual individualized family service plan (IFSP) with the local school system.  It looks like he'll be getting in home therapy from them about twice a month.  And I've been looking to identify a good rehab center for him to attend once or twice a week.

We've been in touch with the folks at the University of Minnesota about his six month check-up in October. It looks like Ethan and I will be going out there during the last week of October for a week or so.   We'll be doing a lot of things during that visit, but needless to say, we're most anxious to get his engraftment checked so we can see how transplant is doing overall.

If his engraftment is good, then the docs there will likely want to remove his central line. (Oh boy, will we dance for joy when that thing comes out. Ethan's had a line since October 09 and we are so ready to be done with the daily maintenance and constant worrying about infection.)  If they do pull his line, then we've also asked them to finally repair his umbilical hernia so that his belly button no longer looks like an elephant's trunk.  And we've asked them to schedule another sedated hearing test (an ABR).

While we're out there, we're also planning to go "next door" to Gillette Children's Hospital where they've got some orthopedic docs with extensive Hurler's experience.  And we're planning a nerve conduction test to check for signs of carpal tunnel syndrome.   Both the orthopedic and carpal tunnel evaluations will, hopefully, give us a good idea of what Ethan's surgery schedule might look like over the next few years.

Thinking about Friends
 When we were at the Ronald McDonald House, I clearly remember how difficult it was to read about other families who had left the house and gotten back to their lives.  Writing this blog update was more difficult than usual because our thoughts and hearts are with our friends at RMH, many of whom are going through difficult times. 

We were heartbroken to learn that
little Aary Lammo passed away from
complications during her second
BMT.  Aary and her mom,
Jennifer and her sisters were at RMH
from August 10 through August 11.
Lila Beth Hughes, another Hurler's kid, at T+100, she's
fighting graft verus host disease and an irregular

Our beautiful friend, Princess Ireland, admitted to pediatric intensive care this week
due to blood clots in her lungs and legs.

Ella (l) and Emily (R) Brynn.  Emily is another Hurler's kid at T+20, she's
fighting adenovirus.

We love you guys and think of you all the time.  Wishing you all courage and strength.


Anonymous said…
Thank you for the post we love and miss you guys all the time as well, it is very hard and very difficult. Knowing. Our precious. Aary isn't here but in spirit she is, its hard reading other families post hoping for the best. Im so glad to hear how well ethan is doing. I enjoyed reading your update. Thank you keep us posted. Hugs and kisses erika, kylie, Bryanna, jenny miss you all and the rest of our RMH families. Love you guys
Anonymous said…
Just checking in on Ethan and family. It's been a good ride through this gigantic adventure and what a blessing that the outcome has been so fantastic for you all. Just realizing that there are many hills to climb ahead. :-) Keep on truckin'! What a sweet tribute to your friends. The kidlets and their families are true champions! Just want to say that we had a son who, like Caleb, was a reluctant joiner, but somehow we got him out there to do a season of just about everything...nothing really stuck but at least he was then able to choose from a variety. (Of all the activities, he suddenly chose to play football for the first time in high school! End of story: he did wreck his knee. Ha ha.) Try to get Caleb to do something 'with a friend' who is doing it, too. Worked great for our shy boy. Best to you all.