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.

Zuri and Kai

Yesterday, Zuri got to meet Kai for the first time.  She has had a persistent cough the last couple of weeks, and although she didn't seem sick otherwise, we thought it best to wait until the cough was gone.  She has been excited to meet Kai, and she was really cute when she did meet him.  She kept saying, "baby Kai," and wanting to touch him.  She asked about all the tubes and wires and was really curious about everything, especially the camera--I think she is turning into a little diva! ;-)  They have a ten minute limit for children to be at the bedside, so she was unable to stay very long.

Surgery

 

Friday Kai underwent surgery.  He had two different procedures done--the G-tube and a tracheotomy.  The surgery went very well and there were no complications.  Although Kai is still uncomfortable because of the surgery, he still seems much calmer than before the surgery.  He also looks like a different baby as well.  I had never gotten to see him without all the tape and tubes in his mouth, so it is neat to see his full face.  He also uses his mouth for a lot of expressions.  The most common that we have seen is a frown (probably because he still has pain from the surgeries), but he has also pursed his lips and given a couple other expressions as well.  It has been fun to see.  They have kept him fairly sedated and on pain medication so we don't have a good picture of him with his eyes open.

 

Care Conference

It has been a rough 24 hours.  We had a lot thrown at us in a very short time.  Last night we had the Care Conference where we discussed Kai's situation and his upcoming care.  We got together with several of the specialists that have been overseeing Kai's care/situation.  The conference itself was fairly positive.  The overall consensus was that a tracheotomy is the best and safest route to go at this time.  More damage is being done by the current tube in his mouth than a trach would do.  They all seemed to see the trach as a temporary measure right now.  In fact, the ENT doctor said that there is a procedure that can be done to bring Kai's jaw forward, which would bring his tongue forward and relieve the pressure off the epiglottis so that it would function normally.  However, he feels like the safest way to go would be to get the trach in first and then do the procedure after.  

The RT (respiratory therapist) said that the current tube could do more damage to his vocal cords, lungs and esophagus than the trach would.  She also mentioned that having the tube in could damage the soft palate and create an oral aversion (which we certainly don't want).

The geneticist said that they have been unable to identify a syndrome or any genetic abnormalities and that once we get the airway issue corrected, we are looking at a non-lethal case.  Basically, Kai has a really good chance of surviving--that he won't just stop breathing on us or have heart failure (or have a SIDS-like case).  Additionally, when there is no syndrome, children with trache's often do much better.  

We actually got to see a baby who was about to be released to go home who had a trache.  The mother said that had they made the decision to do the trache earlier, her baby might have been released much sooner.  She said that once her baby got the trache, she became much more relaxed and started to thrive.  The nurses say that those who get the trache actually become more like a baby and less like a patient.  We will also be in charge of changing the tubing and all the care so that when Kai is released we will be competent.  

Along with the trache is the GT tube, where they insert a feeding tube right into the stomach.  The other option is to have the tube in the mouth or running through the nose down into the stomach.  Again, it seems so invasive, but we are aiming at long-term results versus short-term desires.  With the GT tube we will be able to work on breastfeeding (or bottle feeding if need be).  We will also be able to work on Kai's sucking reflex, and keep the oral aversion to a minimum.  

There was one other thing thrown at us today, amidst our turmoil of decision making.  Audiology finally came in to do a hearing assessment on Kai.  The good news is that he can hear.  The bad news is that he can't hear very well--out of either ear, and it is permanent.  He can hear slightly better out of his right than his left (which we expected), and he can hear lower frequencies better than higher frequencies.  They briefly mentioned hearing aids as an intervention, but at this point in time they are going to wait until he is more "medically stable" and do another assessment (most likely in four to six weeks) and go from there. 

To end on a positive note, Kai gained an additional 80 grams last night which brings him to just over four pounds.  He did drop 30 grams the night before but overall he is still gaining--on an upward trend, which is what we like to see!