The House of Doo

The House of Doo

Tuesday, July 30, 2013

Geneticist Follow-up.

We went to the geneticist today to get the test results from our last visit.  The Fragile X test I mentioned was negative.  The micro-array analysis was basically a breakdown of Colt's genetic material.  It was mostly normal except for one part, where Colt has some extra genetic material.  I didn't really understand this, but there is one part where there are two strands and one of them was "diseased."  This isn't really that big of a deal, unless both parts are diseased.  It was kind of strange though because if both parts were diseased, it could cause respiratory disease in him.  We went to the pediatrician yesterday for this horrible cough that has been hanging around and he has bronchitis.  It kind of fit.  BUT, Dr. Stevens wasn't alarmed with that part.  So, we now have no answers.  Still 

Dr. Stevens said at the first visit she thought of something called "Sotos Syndrome."  She kind of mentally ruled it out though.  At the visit today, she told us she had been thinking about Colt yesterday and wanted to revisit the possibility of Sotos Syndrome.  It is basically an "overgrowth syndrome" where the child is much bigger than other kids his age, has developmental delays, vision problems, etc.  Colt fit many, however, he didn't have the facial features of one with Sotos.  This can happen sometimes, so today they drew blood to test for that.  We did a bad thing and Googled it, but for the most part, this seems to be the best scenario.  The one major scary thing with this one (and the doctor mentioned this) is that children with this syndrome are prone to cancerous tumors as children.  Bah.  So, now we can worry about that.  :/  We won't know the results for this test for at least a month because it is a little more in-depth, and the doctor will call us herself with the results. 

That is where we stand right now.  If this comes back negative, I think we are going to step back and let things go for a while.  See how he progresses and give ourselves a break.  I hate seeing Colt cry and not understand why we are holding him down AGAIN to let someone stab him with needles.  The older he gets, the more he understands and knows what is coming.  I can't handle it. 

Other than that, not much is going on.  Colt does have bronchitis again, for the third time this year.  He is on antibiotics to see how it responds.  If it responds, it is infectious bronchitis, if not, it is "reactive" bronchitis.  If it is this kind, he'll have to do long-term nebulizer treatments.  Bah.  Poor kid.  He hates the nebulizer.  It's worse than getting blood drawn! 

He is otherwise a very happy, beautiful child.  He is making improvements every day and we are so proud.  Please keep us (and our anxiety) in your prayers.  :)

 Bubble Pool!
 New haircut!
Beautiful boy.

Thursday, July 11, 2013

Geneticist Visit and More.

It has been a couple of weeks since I last posted.  Last time I posted, I was upset because we hadn't gotten a very satisfying answer from our neurologist on the comparison of Colt's two brain MRIs.  We finally got a call from him personally.  I am going to preface this with the fact that I am sure the man is a genius, but he is the weirdest human being I have ever encountered.  He is a TERRIBLE communicator.  When you do talk to him, you leave more confused than when you started.  This time, he did say that the two MRIs were indeed different.  The first one is perfectly normal.  The second one is different, though only slightly.  The first time he called to tell us that Colt's MRI showed brain damage, he rated the damage as a 3 on a 0-10 scale.  This time, he said that the more he looked at it, he wanted to change that from a 3 to a 1 or 2.  That is great!  I think.  It may change again the next time we see him, but hopefully not.  Unless it changes to a 0.  That would be acceptable.  ;) 

On Monday of this week, Colt's geneticist's office called.  We were not able to get in to see her until September, but I recently called and got us put on the cancellation list.  When they called on Monday, she had some cancellations this week!  We took the one that was open yesterday.  For the most part, we had a great experience at Dr. Stevens' office. They took us back pretty quickly and took us to a little room.  They did the usual doctor things, measuring Colt's height, weight, and head size.  In a few minutes, a genetic counselor came in the room and went over our medical history.  My entire pregnancy, Colt's birth, the time frame of all his major developmental milestones, and our family histories.  Shortly after, Dr. Stevens came in.  We were in there for quite a while, she analyzed him from head to toe, even noting something about how his toenails "spooned."  Detailed, for sure.  In the end, there are a few things that she decided to test him for.  Some chromosomal abnormalities.  We had to take him down to the dreaded lab.  We've been there a few times and Colt knew where he was immediately.  Usually when they take blood from Colt, he screams like crazy and we have to literally lay on top of him to be able to hold him still.  Ryan did lay down on him while I held his arm still, but he never even flinched.  They took three big vials of blood and he didn't whimper or shed a single tear.  Amazing.  I guess he is getting used to this, sad to say.  We didn't get any answers yesterday, but we go back in a little less than 3 weeks, on July 30th to find out the results of these blood tests. 

One thing the geneticist suggested was that Colt should be getting physical and occupational therapies, along with the speech. She thinks it would have helped him a lot.  It has been mentioned to us a few times at speech, but then dismissed.  So, I will be calling our case manager and talking to her about that.  The thing is that Colt can only have therapy through these programs until he's 3, so he'll only get it for a few months.  It takes a while to get it started, so I am not sure we would even get any before he turns 3.  I will ask though. 

I feel like we are so close to an answer and I am excited and terrified at the very same time.  I am excited to have an answer and a direction, but terrified of what that answer may hold for Colt's future. 

While we are in the waiting room at the geneticist's office, I had an interesting encounter.  I was sitting, waiting while Colt and Ryan were in the restroom, and I could feel a lady looking at me.  You know the feeling.  So I glanced over at her and she said "I know you from somewhere."  I hate that.  I never know where that could be.  So we talk for a few minutes and I finally say, "Do you ever buy ice?"  Ha.  It was my last ditch effort.  She said "Well, actually, yes.  I used to do so often!"  This led to her saying "I had a really great experience there years ago..."  She began to tell me a story that made me cry right there in the doctor's office.  She was a foster parent and about 8 years ago, she called to see if they could have some ice donated for a fundraiser for the foster children.  She spoke to a really nice older lady (my precious Nana) who agreed to donate the ice a few times.  The lady went on to say she sent a thank you card to the ice company and went on about her business.  Then, a couple of months later, before Christmas, the lady's phone rang.  The woman (my Nana) said "I know you don't remember me, but I can't stop thinking about those children."  Nana then told her that she wanted to help her with Christmas for those children.  She told me that she would forever be grateful.  Nana never told anyone what she did.  I had never heard that story, but it absolutely made me cry like a baby right there in the waiting room.  I have never been more proud of her. 

My stepdad got the results of his MRI on Tuesday.  He has a few tumors they are watching and one of them has not shrunk anymore and some of the smaller ones seem to have shrunk a bit.  At least they are not growing, so that is great news.  However, there is now a spot on his lungs they are going to watch and check again in August.  They are not biopsying it because he is already undergoing chemo, so there isn't really much more they can do anyway.  We are praying hard that it was just a bad read and it will not be there on the next scan.  

Other than that, not much has changed in our lives.  We still haven't sold our house and it is hanging on me like a weight.  Colt is continuing to do new things every day.  He is "talking" a lot, though we technically don't have many new real words.  He has a new favorite game.  He loves cars, and also loves logos.  The logos of anything, stores, the hospital, etc.  He can recognize them all!  The combination of the logos and the cars is the new game.  He sees a car, a Lexus for example, and can tell you who drives that brand of car.  Whenever he sees a Lexus, he yells "Pawpaw!"  Whenever he sees a Toyota, he says "Eeeeah!" (Leah).  Whenever he sees a Cadillac, he says "Gaga!" (Granddad and Nana).  It doesn't have to be the same model, either.  I love it!  :) 

Anyway, sorry this was so long!  I'll add in some of my favorite pictures from the past couple of weeks. :)
 Playing golf with Daddy.
 Puddle jumping!
 Doggie snuggles!
 Playing in the TV box while it storms.
Colt got a sour blackberry!