Thanksgiving Living!

In our family the word FAMILY means people who love us, being related to us by blood does not matter. However, there needs to be some gravy loving criteria met before you can truly be counted as one of our own. This Thanksgiving we were surrounded by some of our adopted family and their extended family, ever increasing those who love us and those we love. 

This family has seen us through some tough times in the last few years. Three Thanksgivings ago they sat at our dinner table the day after we were told that Max should be tested for Muscular Dystrophy. How far we have come! This Thanksgiving I was literally overflowing with thankfulness. We are in such a different place now.  A better place!

 In fact we felt so good that we attempted a road trip this year.  We packed some butter, bacon and cheese and hit the road, barely beating a snow storm to our destination. I think a few years ago I would have let something like a special diet keep us home. I was not one for challenging myself anymore than necessary. But we are serious about living these days. And living means a road trip now and then. I am proud to report it was a terrific. The kids were amazing in the car. I was prepared for the worst. I even put ear plugs in my pocket thinking I would need to just check out from the madness at some point. The ear plugs never came out. The kids were in better moods than we were! The drive home took over 10 hours due to weather and no one cried....ever! Ray even downloaded a Yoda voice for our GPS. Now that is living!


We had such a wonderful time with our family. Thanksgiving dinner in a log cabin in the mountains, seeing the Rockettes in the city and taking Caroline to her first grown up ladies tea at a fancy hotel. Ray and Max watched lots of football with the guys (and played on the iphone, see picture below) and a good time was had by all. 

 Ray and Max relaxing after a big turkey dinner

The girls ready for a day on the town!  Seeing the Rockettes and having tea were a perfect way to kick off the holidays.

I am Thankful for my Family!

Little Man Max turns FOUR!

Max is four!  As of this morning, four!  I can't seem to wrap my mind around the fact that he is growing up. 


Three days before his birthday he stopped napping.  Just like that, no nap.  I will admit, I really enjoyed the long naps he took, but I always knew they were due to his lack of energy.  So the fact that he is not napping is just another sign that the diet is working and that he is getting healthier and healthier.  But lest I get too excited about his health, Max evened things out by throwing up on his birthday.  We don't think he is sick, though.  The balance of Max's ketosis can be tricky, add in digestion issues and he then throws up.  The tell-tail red cheeks of high ketosis and the lack of a fever back this up.


Despite not feeling 100%, Max had a nice day.  He did not want a party.  In fact he was adamant about that no children should come over.  He finds them too loud, which I think is really funny since Max himself is quite loud.  For a while he toyed with the idea of inviting two of the neighborhood dogs over, also funny since he is allergic to dogs.  In the end he settled on a Batman- Dinosaur themed family party with lunch at Red Robin with his beloved baby sitter Dee.  Sadly the lunch had to be postponed due to him not feeling well.


His birthday is yet another mile marker for us.  From what we understand, Max will have to be on the Modified Atkins or Ketogenic diet at least until the age of 10, (after the age of ten the brain needs less glucose) and possibly some modified version the rest of his life.  Unless of course another treatment becomes available. 


6 more years of butter and bacon, bring it on, we are ready!


And some good news....Max seems to be taking a break from pork rinds lately!

Glut1 DS Style!

After all the Fancy Nancy fun we have had in our house recently, I have learned something.  Life is just a tad more fun when you accessorize. 

So I asked myself, "How can we make living with Glut1 DS Fancy?"

It is all about the bag!  Why carry Max's food in a Spider Man bag, when I can use a pretty cosmetic bag?  If I end up carrying his food anyway, no matter how cool a "little boy bag" I put it in, shouldn't I have a bag I really like?  Of course then I will need a larger tote to carry my pretty food bag in, along with everything else we need, like meds, wipes (aka de-greasing tools), and less important things like keys and my wallet.

So yes ladies and gentlemen, Glut1 DS can be stylish.  You just have to find your look.  Here is mine!

Really, if you have to carry butter in your purse, being fancy is important! 

Have a great weekend!

Progress in a Party

We had nine Kindergartners in our home on Saturday for a Fancy Nancy Tea Party in honor of Caroline's 6th birthday.  There were feather boas, hair bows, necklaces and more pink than I think Ray and Max knew what to do with!  It was splendiferous, as Fancy Nancy would say! 

After the party I kept telling Ray how much fun it was, and how I didn't feel worn out like I did last year.  I remember barely being able to move after the Tinkerbell party of '09.  It seems like ancient history now, but I realize it was only a year ago that we were in a dark place.  Max, along with other oral medications, was on a nebulizer every day getting steroids for his asthma. I was scared to death about H1N1 and how it could effect him.  We were waiting on the results of Max's Microarray test, which a doctor had told us would surely be positive for chromosome deletions (it was not).  I was processing being told that Max had cranial/facial anomalies, this of all the things we went through bothered me the most.  In one sentence it changed how I viewed the beauty of my son.  I allowed it to.  I feel differently now, but back then it hit me very hard.  During that time we were very stuck, and we were not living. 

Amidst all of that I was procrastinating about the party planning for Caroline's 5th birthday, which is not my style.  Case in point.  Caroline and I already have the theme for next years party.  Kind of scary, I know, but we like to plan and dream.  I decided a week before her Tinkerbell party that I really should do something more than show the latest Tinkerbell movie and serve a few cupcakes.  All of a sudden sewing 5 doll costumes, to dress her dolls like the fairies from the movie, seemed like an excellent idea.  Utah Caroline came to my rescue and made one of them and sent it priority mail.  It should have been fun, but it was more hiding than fun.  

This year was SO different.  Caroline and I started planning two months in advance.  We had a ball talking about colors and crafts and decorating ideas for the dining room.  We made favors and home made candy together.  Ray and I worked together to turn one of the Fancy Nancy books into a video slide show.  I enjoyed ever minute of it.  I even let Caroline pipe a few of the cupcakes. 

Often we can't see how far we have come until we look back.  This weekend was not just an annual birthday party for a child, to me it was a check point in the growth of our family.  I am pleased, I see progress.

I will end with a few more party pictures and one more thought, a favorite quote from my high school years.

You can progress, and you can regress, but you cannot gress.

We Finally Know!

Max has had the clinical diagnosis for Glut 1 DS for over 6 months now.  But is it really Glut 1, or does it just look like Glut 1?  This question has stirred in the back of mind since the day I heard the neurologist's voice on the phone back in May: "Mrs. Martin, do you have a moment to talk?"

I heard the same voice and the same words last night.


"Mrs. Martin, do you have a moment to talk?"

I held my breath.  Here we go, it is time to finally know.  My blood, along with Ray's and Max's blood, was sent to New York a few weeks ago to be tested by Dr. DeVivo.  He is the doctor who discovered Glut 1 DS, often called DeVivo's Disease.  Dr. Devivo has the only test that can prove it, in the absence of a genetic marker (at this time they are unable to locate the marker in Max).

Max has Glut 1.  We now know, without any doubt.  This is a huge relief to us.  Knowing helps, it is hard to explain, but it helps keep the door of the Waiting Room propped open.  Knowing gives us more knowledge and more hope.


We learned something else too, my red blood cells are not processing glucose as they should, just like Max, just not as severe.  I am what is called a mosaic carrier.  The neurologist explained that a mosaic carrier has the mutations in some cells and not others, and does not have symptoms or may have very mild symptoms.  She said that they now believe that Glut 1 in it very mildest form looks like Hypoglycemia, I have had symptoms of that for years.  The neurologist also said that Dr. DeVivo is going to run some DNA tests on all of our blood.  Perhaps this will give us even more information.

I have always wondered and worried what Max's life will be like in the future.  How will this condition effect him, his brain, his intelligence, his movement?  What will Max be like?  The data currently available is only for the more severe forms of Glut 1 DS, and I don't care for the picture it paints.

We have been treating Max for two months and we will continue indefinitely.  By keeping his body in Ketosis with the Modified Atkin's diet, his brain is now getting the fuel it needs.  Could it be...maybe...that Max's future will be not too far off of my present?  I am ok with that, I am thrilled with that!  I could be misinterpreting what it means for me to be a mosaic, but for now, I am resting in the comfort of that idea. 

It is time for us to rest now.  There is a big comfy couch in our Waiting Room and we as a family are going to rest for a while.  We have come along way in our 25 month journey.  I am thankful for the doctors at TCH, and I am so thankful for the support we have gotten from our family and friends.  I am thankful for Dr. DeVivio and his work with Glut 1 DS. 

I am so thankful to be Max's mother.

Happy Birthday Caroline!

6 years later....that dimple gets me every time I see it!

I love you Caroline! 

Check back in a few days to see some Fancy Birthday Fun!