Six Months

 
The last two weeks have been rough.  Not only have we had the emergency room visit, but we have had a ton going on and appointments galore.  Kai has had three other incidents of respiratory distress, but they have been more mild and manageable than that first one.  I have had to do two emergency trach replacements--one by myself.  That was very nerve-wracking but went off without a hitch.

Kai also celebrated his six-month birthday.  Hooray!  Six month stats:  weight is 11 pounds 12 ounces, and he is 24 inches long.  He is in the 1% for height, weight and head circumference.  He still needs head support, and he can roll from one side to another, but he does so only sporadically.  He absolutely loves his fingers.  He will chomp on his fingers all day long, but still refuses a pacifier.  His OT said that he is probably too old now and will never take to the pacifier, but sucking on his fingers is a good sign.  

At his six month check-up, his pediatrician was impressed with his overall growth.  He did have concern over his head, however.  His soft spot is almost completely gone, but his head is slightly misshapen, and not in the cosmetically unpleasing way.  What that could mean in the long term is uneven growth, and even restricted brain growth.  He has recommended that we see a surgeon at Primary Childrens.  What they would do is break his skull and get it reformed.  To say that I am apprehensive about doing something so severe is an understatement.

The CCV Trach Clinic went well.  He saw six different specialists and they were full of praise at how well Kai is doing.  There was no mention of him going back on a ventilator or needing any sort of ventilator support.  Each specialist made a comment about how well I was doing with Kai and how good he is looking.  It was very refreshing to hear positive feedback and to know that my hard work has been paying off. 

We also had an appointment with the Geneticist this last week (why they didn't piggyback onto the CCV Trach Clinic, I don't know).  I left feeling extremely frustrated and angry with the way I was treated.  I am going to rant for just a second.  I understand that doctors are busy and their time is valuable, but so am I, and so is my time.  I make an effort to make it to my appointments on time, and with two children and all the crap I have to do with Kai it is extremely difficult.  It takes three times as long with Kai as it would a normal healthy child.  I just ask that my time is respected as well.  There is a reason an appointment is made.

Now, let me backtrack a bit.  I get to my appointment and we wait for about ten to fifteen minutes in the waiting room.  No big deal.  We go in, and Kai's height, weight, head circumference, and blood pressure are taken (same with every appointment we go).  Then we wait another ten to fifteen minutes. The genetics team comes in and we talk with them.  I will get to what they said in a moment.  After that, they say they are going to bring in the lead doctor (head of the genetics team)--what, my appointment is not over?  Okay...back to waiting.  Over forty-five minutes later the doctor comes in.  By this time Zuri has been telling me she needs to go potty and that she is hungry.  Kai has missed an entire feeding, and I am seething.  I had literally gotten the kids all put together and had put my hand on the door to leave when the doctor walked in and reiterated exactly what the genetics team had told me!  He saw that I was upset and had the gall to suggest that I needed a case manager to help with all my appointments.  I managed to keep my cool and be polite, but I wanted to say, "I am just fine making it to my appointments.  I don't need a case manager, I just need doctors to respect my time and show up."  Then he tells me that we could have met at the Riverton Clinic (which would save me over 30 minutes of drive time plus the gas)!  We have tried to get all our appointments moved to the Riverton clinic but they wouldn't cooperate!  It is just like with the pulmonology when the doctor told me he wanted to see Kai again in October, but when I called to make an appointment, they said nothing is available until December.  By the time I got home from the genetics appointment Kai had missed two feedings.  The worst part about it all is that it could have easily been done over the phone.

The whole escapade with the genetics appointment wouldn't have been so bad if it weren't a reoccurring theme.  Just the day before I had gone to an appointment that should have taken 30 minutes tops, but we were there for over two hours.  In fact, the office had closed down and locked its doors for lunch and was about to reopen for business when I left.  Ridiculous!

As for what the geneticists had to say:  they confirmed the diagnosis of Marshall Smith Syndrome.  They said that J, Zuri and I aren't carriers.  They said that it is a gene mutation that is dominant, so basically, if you have the mutation, you show it--hence Kai.  There is less than 1% chance that we could have another child with the mutation.  They said they can't say 0% because there is always a slight chance but the odds are even greater that we won't now that we have had one child with it (considering less than 50 people worldwide have had this syndrome in the last 40 years, you get the odds).

In a sense it is a relief to hear the news.  There is always something lurking in the back of my mind that wonders if something I did (or didn't) do caused this to happen to my sweet little boy.  There is nothing I can do about a gene mutation.  It happens naturally--part of life.  It is so hard to watch when pregnant women do things that could potentially harm their baby.  I tried to do everything I could so that my baby was healthy.  When my blood sugar came out a bit high, I stopped eating sugar.  Even when I was told I could eat sugar, I still abstained.  I see so many pregnant women doing unhealthy and even risky things and a part of me just cries out at the unfairness of it all.  They aren't taking care of themselves or the baby, why do they get healthy babies?

The other day I was grocery shopping and a woman walked by with a three or four month old.  The mom and the baby were cooing to each other.  I cried.  It seems such a little thing that people take for granted.  I will never hear Kai coo.  He doesn't even look at me and smile.  He doesn't reach for toys.  

I have talked with several specialists about his lack of smiling and head support.  None seem concerned.  They just say that with the trach and his head being so big that it will take longer for head support to come.  They don't want to "limit" him by his syndrome, but we also have to take it into account.  Will he be able to have head support?  Some do, some don't.  We don't know.  Will he smile?  The other children all seem to, so the answer is...yes?  Kai is more on the severe side of the spectrum as far as things go, so really, we don't know anything.

I digress, however.  I didn't intend this post to be melancholy; as I mentioned earlier, it has been a rough couple of weeks.  I am looking forward to Thanksgiving, however, and seeing family.  If the weather remains nice, my grandparents will come out from Sacramento and spend Thanksgiving with us.  We will all go over to Amanda and Tyler's house (providing Amanda hasn't had her baby) and enjoy.  It will be the last family get together before J's brother leaves for his mission to Atlanta.  It will also be the first family function which Kai gets to attend.  Here is hoping all goes well!