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Tuesday, December 9, 2014


Laughter is so important and something that I've continued to do through all of this, just laugh.  Don't sweat the small things and enjoy the simple moments.  We have our emotional moments - some worse than others...some where we just break which I think has been healthy.  Other moments are wonderful and we are cherishing these .  Yesterday it was as simple as looking at Christmas lights or playing in my daughters room with Max - he just adores his sister and watches every move and coos to get her attention.  Also the ABCs...Max doesn't like to be on his back for any during diaper changes I try to distract him by singing or making funny faces. The other day it was ABCs and I used goofy voices and faces (I think I get that funny gene from my dad).  At the end of the song I asked if he wanted me to sing it again and he laughed at me - so I did it again and asked if he wanted me to do it again - and he laughed.  Small moment to some but amazing to me. He wasn't crying, he wasn't in was just Mommy and Max time and I loved the 5 minutes that we shared before something else changed that.

The hardest part right now is not knowing what's wrong when he cries.  Is he testing me like a normal 10 month old would be?  Is he teething?  Is it gas?  Muscle spasms? What can I do to help and what is wrong?  And I don't know.  Holding him has been key and I treasure this time with him, but it is also hard to hear him cry if I have to put him down. I still talk with him if he's not in my arms - hopefully that is enough to cook dinner, get dressed etc. before I swoop him up again and make him a happy baby.

I can't express enough how much we value your time...your messages...your stories...your personal experiences that you have shared...your gifts...your thoughts...your generous offers...your support...your prayers.  They just mean so much and if I haven't reached out to everyone, I apologize - there is just an incredible amount of people that we have supporting our family and cheering us on.   We value it- whether near, far or a distant friendship, we still value it. We are loved and we are blessed - that is all we can ask for. Thank you.

One update I wanted to share after talking with Max's really intelligent genetics doctor at Phoenix Children's Hospital is the awareness of this disease.  I was initially shocked when I heard that only 2-3 states were testing for this in a newborn screening...why hasn't the word been spread...why aren't more states taking advantage - it shouldn't matter where you live to be tested!  I guess there have been some false positives with this test - parents thinking that their kids will go backwards in development and then it never comes (which was my hope in all of this but his development is deteriorating).  That would be difficult as well - how do you embrace that news and adjust your lives based on what you think may happen, based on a test that you trust - I guess you can't.  You need to take it a day at a time and continue to live in the moment - easier said than done...but something I am striving for every day. It was the way I was brought up and taught to live life...and now it has even more meaning. 

Along with the false positives is the treatment.  There really isn't a good cure or any kind of treatment.  The best chance is looking at stem cell or bone marrow transplants before the symptoms even occur but even in some of these cases, from what I've heard, there hasn't been a ton of success and the success is a longer life but not necessarily stopping the regression in development. I'm still learning so I could be wrong here but again what's been communicated to me so far.  There is research being done to inject these missing enzymes directly into the patient but it is still far from human trials - HOPE - again.

We get the results of his DNA test hopefully by the end of this week or early next week which should be the confirming factor for us.  Still searching for my miracle but trying not to dwell too much on the results.  From there we are looking to get Emma screened just to be sure she doesn't have a later onset of the disease which is highly unlikely (different gene mutation from what I understand) but this test and screening would give us peace of mind. And if she does carry it, this would prepare her in case she is blessed with children in the future.

We are so looking forward to the holidays and the time with our family and friends. Escapes to the snow...looking at lights...get-togethers...laughs...time to spend with all of you.  It will be our best Christmas ever - I'm convinced.  And I think the kids may be just a tiny bit spoiled this year...but you know what...that is just fine.

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