Saturday, July 25, 2009

Summer Update

I wanted to get all caught up on the blog before we left for Utah, but that obviously didn't happen. We've been in Utah for two weeks so far and the kids are having lots of fun with their cousins and grandparents while Dan is getting LOTS done without us around.

So here is the update of what we had been up to so far for the summer before we left for our trip.

THE ZOO: For a few years we've had a pass to the Oakland Zoo so we made lots of trips there, but we haven't had one in a while and we got a free pass to go again. We always love going it!

FATHER'S DAY: I was pretty sick on Father's Day, so no breakfast in bed or special treatment, but the kids did a great job making Dan feel special for Father's day. He's such a great Dad to these kids! He takes the kids on endless outings, plays lots of computer games with them, puts them to bed, gets up at night with them, and takes really good care of their mom. :) He's the best! We're all desperately missing him!

The kids all decorated him a tie in Primary for him to wear on Father's day... his neck was pretty crowded with all three ties. :)

WATERWORLD: We've never been brave enough to take all the kids to a real Waterpark, but we finally got a couple of them old enough to do it. I love waterparks, and Max and Lincoln are definitely our water lovers. Doman did pretty good condidering he usually stays clear of water altogether. And then poor Cali couldn't handle how freezing cold the water was. But we had a really fun time!

I feel really lucky that a few of my favorite people from Berkeley live closeby enough to see. Now that school is out we've been able to play with some friends!

We drove down to San Jose to spend the day with Britney. My kids loved her big house and yard with,of course, a trampoline. I loved talking all day with Britney. ;) I really miss having her live so close, but at least we can visit.

We went to Pleasanton to visit my good friend Rebecca. We met at a little Park with lots of water that the kids all loved. Here is Max and Doman with Kaiyah. These guys have actually left for Texas already... we're going to miss them!

IT COULDN'T GET ANY SADDER... Our friend Mindy and her great family has left us for Alaska! So far I've handled the friends leaving not so far away, but Alaska??? It definitely has broken our hearts and is going to leave a hole for a long time. Thank goodness for blogs and all the Girls' trips we're planning to Portland and Salt Lake to play. ;)

Here's Mindy for ya... at her girls goodbye party she's laughing through her tears.

And I don't know how she found time the night before she left to squeeze in one more Samantha Who marathon with me and Marianna. Mindy, you're too much fun! You've taught me SO much about motherhood and service! We'll really miss you!

Wednesday, July 08, 2009

Doman's Biopsy Results

We found out Doman's muscle biopsy results several weeks ago, but I'm just now starting to talk about it without crying. The biopsy showed that he has a rare form of Muscular Dystrophy called Ullrich's Congenital Muscular Dystrophy (UCMD).

Partly I've put off posting anything because we've been waiting for his genetic test results to confirm 100% the diagnosis. We got those results last week and they turned out to be very "interesting" as our doctor put it. They are quite intrigued in Doman's unique case which is awesome because his doctor keeps moving us along instead of making us wait the 8 months until his next opening. Anyway, there is a chance Doman has something even more rare, but it's still in the same family as UCMD. It is called Bethlem Myopathy, and it's typically less severe than UCMD. We're learning all kinds of things about DNA, mutations, collagen, proteins, autosomal dominant and autosomal recessive genes. Our bodies are so incredibly complicated! Today both Dan and I went down to Stanford to have the genetic testing done on ourselves and our doctor is confident they'll be able to tell if it's UCMD or Bethlem. Crazy! I can't believe how far we've come and how close we are to a final diagnosis!

So what is it going to be like for Doman to have UCMD or Bethlem? The degree of severity and the rate of progression varies widely with each child, so it's too hard to predict exactly what we're to expect. Basically all kids with UCMD and Bethlem can expect their muscles to progressively get weaker over time. With UCMD kids usually lose the ability to walk early in life and could have severe respiratory problems amongst other complications. With Bethlem, they usually don't see severe weakness until they are middle-aged, but since Doman already has severe muscle weakness, we would have no idea what to expect.

Of course there is no cure to either, but he'll always be in physical therapy to help avoid the muscles contracting and becoming weak and stiff. He has some new leg braces (which we're struggling with so far), and there will be other devices he'll get as they see the need. He'll likely have multiple surgeries throughout his life to help him where needed as well. We'll join the Muscular Dystrophy Association and have a clinic to support whatever we need.

Obviously this has been hard for us to deal with. Dan has handled it much better than me and I'm glad because I really need his positive perspective on the whole thing. As we've been searching for the past couple of years for what has caused Doman's muscle weakness, I've always hoped we'd find out it was something that was either going to get better with time, or something that would be easily treated. I didn't really think we'd ever find out it was a genetic defect he was born with that he'd live with his whole life. Of course no parent wants to see their child live anything but a normal life, right? And I've been so sad realizing he'll never be a little boy that can run and jump, play soccer, go hiking, and do so many other physical things we all take for granted.

At the same time, we have felt incredibly blessed. Doman has the sweetest spirit in the whole world and he is completely happy and content. It is incredible how amazing he is for the many doctor appointments he goes to. He has become more and more aware of his physical limitations, and he accepts it as part of who he is. We're also beyond fortunate to be living in this area while he is so young. These are such rare forms of Muscular Dystrophy and I'm certain it would have been many, many years before he was ever diagnosed if we didn't live here. So if this turns out to be the only reason we were meant to come to Berkeley, then I'll never complain!

We really appreciate everyone who has always been so concerned for little Doman. He is lucky to be such a loved little boy! It feels so good to know we have such a strong support group from our family and friends. Thanks to all my sweet friends who have had to be around me while I've cried and cried. Now I'm ready to move forward and be that great support to Doman that he'll need throughout his life.

I'll post an update as soon as we get the genetic test results with hopefully the final diagnosis!