Upgrade

Kai was upgraded to a crib today!  One step closer to bringing him home. :-) We are looking at a discharge date sometime next week, most likely Wednesday.  In our trach class we learned about suctioning and took turns suctioning Kai.  Poor guy got suctioned six times in a row, but he was a trooper!

Big News

 Sorry I haven't posted sooner.  This has been a big, busy week.  This little guy is coming home soon!  When I say soon--it could be as early as Monday if we are able to get everything done by then.  They started doing the trach mask trials over the weekend, starting with 1/2 hour increments every six hours.  He did that with no problem so they let him stay on for an hour, then an hour and a half and so on.  By the time they got to the 2 1/2 hour mark, he was getting really fussy and irritable every time they put him back on the vent, so they left it off to see how long he could go, and he hasn't gone back on.  Today marks day three without the vent, and he is thriving.  He is so much more comfortable.

So, we are now scrambling to get everything done to bring him home.  The most important thing is the trach classes; there are four and we had the first one today.  After the classes we will do a "room-in" where we stay overnight in the hospital and take care of him all on our own.  Then we have a few videos to watch and a CPR class designed specifically for trachs, and then we can bring him home!

We are so excited, especially since we thought it would be at least another month or so.  My family is also coming in from California tomorrow, so if all goes well, they may get to be here when he comes home.  :-)

A Good Day

Today was a good day--and an eventful day.  J took the exam for his license and passed (whoohoo!).  Now he has his *** and when he completes his clinical hours (4,000) over the next two years, then he will have his clinical license.  We are very excited and glad the exam is finally over.

Kai has also been making some great progress.  Last night they decided to try the trach mask again to see if we can get him off the ventilator and breathing on his own.  The original plan was to wean him off gradually, starting with half hour increments during the night.  Last night he did so well that they let him stay on for over an hour and instead of waiting another day or two, they decided to do it in six hour increments.  So, every six hours he will get the trach mask, and they have increased from an hour to an hour and a half.  He has been doing great!  In fact, all day today he was a little fussy and restless, but when they put the trach mask on, he calmed down, became very content, and fell asleep.  His oxygen saturation levels were at 99% and 100%.  :-) 

I have also been doing the trach care for Kai.  Yesterday, even though I have not taken the class yet, they let us actually take out the old trach and put in the new one.  J took out the old and I put in the new one.  It was a little nerve-wracking because during the "procedure" Kai isn't breathing, but we did so fairly flawlessly and his oxygen saturation didn't dip below 90.  We only have to change out the trach tube once a week so it isn't too bad.  Today, I cleaned around the trach and changed the ties.  The RT said that I am a natural and said I should be in nursing.  Haha.  I remember when Zuri was in the NICU in American Fork that some of the nurses there had similar comments.  Good thing, because with all the care that Kai will require, I will need those skills--so I am glad I am competent!  It is really nice that they are letting us have hands on experience even before we have the class so that we can feel comfortable and competent when we are able to take Kai home.

One Month

 There are times when I am sitting with Kai while he is sleeping, and it is hard to remember that he has all the problems--all I see is this tiny little person sleeping so peacefully.  I forget about all my worries and fears for the future and how I am going to be able to take care of him and just enjoy.  The miracle that is life and love overwhelms me.  I know that we have a rough road ahead of us and it has just begun, but it is nice to sit back and watch Kai just be a baby.  He has a very sweet spirit about him--all who have spent time with him have commented on it, even the nurses, and he loves to be held.  He is also very calm (unless we are bugging him with all the cares that we need to do with the tubes and monitors and diapers--he doesn't like his diaper to be changed, but he also doesn't like to be dirty).

Today marks his one month birthday.  It seems silly to keep track of his life in days and months, but the reality is, we don't know how long he will be with us.  We never truly know with anyone, but in Kai's case his time with us is even more limited.  It is almost a surety that J and I will outlive him; which is painful for us to know, so we treasure each day a little more. 

We are getting more competent in taking care of him.  While we spend a limited time at the hospital, when we are there we are taking over more and more of his care.  We are changing the dressing for his gastronomy tube and helping out with the tracheostomy care.  By the time Kai leaves the hospital, we will be doing all the care for him.  

 

Kai is spending more time awake and acting much more like a baby.  It is fun to watch him looking around and grabbing at the tubes (even though we don't like him grabbing the tubes).  He is almost five pounds now.  The doctors had started to supplement my breastmilk with some formula for extra protein and calories to help boost him up, but he started spitting up a lot and getting really fussy, so they now have him purely on my breastmilk again.  They are also giving him some vitamins to help, which he is somewhat tolerating.

We also have had a little success in getting him to suck on the binky.  We are very excited about that because it helps develop his sucking reflex, cancel out the oral aversion that he has developed with all the tubes in his mouth, and is one step closer to getting the g-tube out and having him eat via mouth.  He has taken about eight to nine sucks on the pacifier a couple times in a row which is really great.  We also want to get him sucking on the pacifier while being fed so he gets the connection between sucking and eating.

It is encouraging to see the progress he is making, and we hope he will continue to make progress so we can bring him home!

Not Coming Home Just Yet

 When can Kai go home?  That is the most frequently asked question.  The answer is that we don't know.  It could be two weeks or two months.  Right now Kai is far from being "medically stable" as the doctors and nurses term it.  He still needs a lot of additional care that we wouldn't be able to provide at this time.

Basically, three major things (and several smaller ones) have to happen before we can bring him home.  Either he needs to breathe on his own, or he has to double in size so he can come home on the ventilator.  Right now he is breathing room air but he is on a respirator which is helping him take breaths.  He is currently on ten breaths a minute--which means the machine is helping him out with an additional ten "breaths" every minute.  We have tried several times to get him off the respirator and breathing on his own, and he does well for a little while, but after a few hours he just gets too tired and starts to struggle.  In order to bring him home on a ventilator, he has to double in size because the home ventilators aren't made for really small infants.

The third thing that would have to happen is that we take the tracheostomy class and learn to care for his trach to the extent that we perform all his trach care while he is in the hospital, even to the extent of rooming in for 24 hours to make sure that we have no questions and are completely competent.  They won't even let us take the class until there is a discharge date set, or he seems much closer to leaving.  I have met mothers whose babies have been in the NICU at Primary Childrens for more than four months and they are still there.  While we certainly hope that it will not take that long for Kai, it is going to be quite some time before he is able to come home to us, but, as the nurses like to say, it is up to Kai how long he stays.

He has been gaining weight like a champ, even with the two surgeries he had last week.  He is now back up to full feedings and they have taken the IV out.  He was up to 4 lbs 11 ounces, however, yesterday he dropped several ounces and is now only 4 lbs 6 ounces.  He has grown five inches since birth, and is now just over 22 inches long; so even though he is gaining, it just all just seems to go to his length.  He is oh-so tiny.  Pictures really do make him appear a whole lot bigger.  I have included a shot of J holding him from today and it gives a bit of perspective.

Hope

This video gives me hope.  It is taken at a what they call the MSS Family Event in the Netherlands.  The next event is next week, again in the Netherlands, but it is really nice to see the children with this syndrome interacting, mobile and happy.



This is the best website I have been able to find on this syndrome.  http://www.marshallsmith.org/

Marshall-Smith Syndrome

Before Kai went into surgery on Friday, the geneticist held an impromptu conference with us.  He told us that he is fairly certain (about 90%) that he has pinpointed what is going on with Kai.  He then told us about an extremely rare (by rare I mean less than 50 cases ever reported world-wide) condition called Marshall-Smith Syndrome.  There is no way to test for this condition because the gene has not yet been identified.  They think it is caused by a gene mutation, but in all but one of the cases, the chromosomes have all been tested and come back normal.  There have been no correlation with any of the parents, family history, occupation, parental age, etc.  It is one of those random mutations that seem to happen.  --How sick I am of that word, random.  We have a better chance of winning the lottery, twice, then having this happen to us, but here we are. 

The geneticist gave us two research articles on the syndrome.  If you would like to read the articles for yourself, this is the link for the more comprehensive article: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33709/abstract. There is a pdf file that you can click on in the right hand section that says "article tools" in which you can read the full article, or you can click on the pdf at the end of the abstract.  For those of you who don't want to read the technical jargon, or just don't have the time, I will give you a condensed version. 

Basically, (this summary is taken from the abstract of the other article) Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including   prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. ..... Our study demonstrates an increased rate of nontraumatic fractures and other bony and connective tissue abnormalities that support the hypothesis that MSS should be considered an osteochondrodysplasia. In addition, long-term survival beyond infancy is possible if respiratory problems are expectantly and aggressively managed. © 2005 Wiley-Liss, Inc.  (The link is: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.30580/abstract).

I will try to put it more in layman's terms.  Basically, the greatest risk is the respiratory issue.  Most of the children who have this syndrome die in early childhood (by age three) because of respiratory illnesses such as pneumonia.  We asked the doctor what is the best way to help prevent that, and he said what we are doing, putting in the trache.  There is evidence that the children can live to adulthood.  There is one female who is currently in her 30's, and a couple of people in their teens.  Speech is possible, but very limited; in fact, most only say a few words if they do speak.  The 30 year old didn't say her first word until she was ten, and didn't walk until she was nine.  Many have never walked or talked.  The earliest child who walked was at two years old, and the earliest first word was at 36 months old.  However, despite the developmental delays and the mental retardation, the children with MSS are described as having a happy demeanor and enjoying social interactions with friends and family.

Another issue is with the bones, but we haven't really had a chance to address that yet with the doctor.  According to the articles, every child exhibited very advanced bone age for their respective age.  Examples include "patient 1" who at birth had a bone age of a 3 1/2-4 year old.  At 22 months, her bone age was that of a 5 9/12 year old.  "Patient 2" had a bone age of a 3 year old at 2 weeks old.  Additionally, many of the children's bones bowed over the years.

Kai's age has been under debate as well.  He was born at 34 weeks, but according to his bone density, it showed he was 36 weeks along.  According to the date of my last period, he was only 33 weeks, but the ultrasound from my first prenatal visit showed he was a week bigger developmentally (that was overall growth, not just from his bones though), so we went with that.  So, there has been a debate as to whether Jeremy was born at 33, 34, or 36 weeks.  The main consensus is the 34 weeks gestational age.

We have been asked to participate in research for this syndrome because it is so rare and there is so little data on it.  We have accepted and hope to be able to add to the knowledge for this condition which will help future children with this syndrome.

As with all syndromes, there is variability within the syndrome.  So, while having the diagnosis is in a way devastating because of all the implications, we are still hopeful that with early intervention we can help Kai live longer and have a richer life on this earth.