Gage's Story, 48 Syndrome

Well for those who don't already know we ended back up in the hospital.  Gage and I went to the ER at 12:30am on the 15th of September and were admitted around 3 o'clock in the morning.  It's funny that sometimes my husband, myself, and Gage have really bad timing. On the morning of the 15th my husband left to go to San Antonio, later when Gage and I woke up, I noticed he had a runny nose and that was all.  Later through the day I tried giving him Dynatap, but it didn't really do much. He started coughing too, he was just producing too much mucus.  Then when I tried to go get some lunch for us Gage vomitted all over himself in his carseat.  It was so scary!!  I didn't really know what to do and no one was there to help me clean him up.  So I rushed home and on the way called the referral line so I could go to the emergency clinic.  We went to the emergency clinic and I prayed the whole way there that he wouldn't throw up again in his car seat.  We got there fine (Thank the Lord!!) and the doctor looked at him and prescribed some medicine to calm down his gag reflex, albuterol, one to stop his runny nose and one for what the Dr. said looked like a mild ear infection.  My only concern now was how am I going to get all this down him?!  Well the pharamacy said it was going to take an hour - of course!  And then they were going to have to order the medicine for his gag reflex.  In the meatime I gave him some Benadryl, it helped a little, but really just made Gage loopy.  I gave him his albuterol because I noticed he was having difficulty breathing, it helped for about 30 minutes. That's when I decided to just go to the ER, nothing was helping and I could see that he was retracting (when you breath in and the skin pulls in around your ribs, navel and other areas on the upper chest) - REALLY BAD!!  It scared me, I have never seen him do that before and it was like him was fighting to breath (because he was.).  I tried calling my husband and couldn't get ahold of him, which was scarry too!  I ended up getting in contact with him after we were admitted to the hospital, that day at around 8 or so in the morning.  They told me before they admitted him that Gage had pneumonia.  I couldn't believe how fast it had on set! Just that morning he had a runny nose and not even 24 hours later - pneumonia. We had doctors swarming our room, they all wanted to see the "48" baby.  It even got to the point where I was tired of explaining what 48 syndrome was to them.   I had a nurse tell me we should submit Gage's story to Mystery Diagnoses.  Humm. Something to think about.  I was glad when we finally got to leave the hospital (on the 17th) , we when "got out of the fish bowl".  Gage has been doing good since we came home.  We went to our family doctor for a follow up apt, and the doctor told us that she believes that Gage is going to continue to have respiratory problems.  That it is just Gage and unrelated to the 48 syndrome.  So she is sending us to another Pulmonologist so we can get on a scheduled plan of treatment.  Genetics has done us no favors - Gage inherits Jeremy's sensitive gag reflex and all of my respiratory issues.  But on the up side Gage is cute like is mom and is a sweety like his dad!

It has been awhile since last I posted.  So much has happened.  We have traveled to Little Rock and back, to spend some much needed time with my family.  It was a wonderful trip.  Gage took his frist trip to the zoo while in Little Rock, where we experienced what can only be described as "Africa hot" like conditions.  We also went to Arkansas Children's Hospital where we met Dr. Schaefer, a Geneticist and Endocrinologist.  He has seen other boys with 48 and it was nice to get a well informed second opinion.  He told me first of all and most importantly to not believe everything doctors say - this is a spectrum syndrome, i.e. it has a wide range of severity.  Each case is different, each child unique and this means that the future will be hard to predict.  Then he hit me with news I found hard to digest - he has never seen a 48'er go on to live independently.  Even before I was married or had a child, I use to worry about the future - so now having heard this news, you can only imagine how distraught I was, even though Gage is only 18 months old!  I am learning to live one day at a time and just let the future be what it is - unknown to us all.  On a more positive note Gage now know three different signs, "more," "all done or finished," and "eat."  We are working on "please,"  he has a little trouble with placing his hand on his chest but, he'll get it soon enough.  He is still not walking but, I did discover today that he can stand on his own, not holding on to anything or anyone - he is just really scared too.  As soon as he realizes what he is doing he panics and tips himself forward.  He can walk, I know it, it's now up to Gage to decide to do it.  His therapist also agree with me that Gage can walk as soon as he gets up the courage, that's the only thing holding him back.  He is still the sweetest, most loving little boy and I am so blessed that God chose me to be his mommy!   

Well I am happy to annouce that Gage has started cruising.  This means that he is pulling up and then walking while holding on to furniture, ect. He is into everything!!  I have gone on a total cleaning/de-clutterization spree.  I'm forming new healthy habbits to make things easier for my family.  Gage is still not eating that well.  He now has his bottom front two teeth, top front two, and top front molars.  I thought maybe with the more teeth he got the better he would eat.  He still will only eat microscopic pieces of food - and he loves dairy, i.e., yogurt, soft cheeses, sour cream, cottage cheese, and MILK!!  This can prove problematic when coming out the other end, and it hurts me to see him struggle with a bm.  (He'll probably kill me for this post when he gets older! Ha!)  He also loves sweets, which is a going to be a big problem since children with 48 syndrome usually have many issues with their teeth including missing teeth, severe decay and taurodontism.  We have seen a nuritionist and she said I have pretty much tried every trick in the book - now I just need to keep trying and stay consistant with meal time.  Since the last blog, Gage has also been to see his 1st movie: Shrek, Forever After.  It was a really cute movie.  Jeremy and I were really excited to take him to see it.  I was smiling ear to ear when we walked into the theatre.  Gage did really good during the movie, we had one moment towards the very end of the movie.  I gave him a mini oreo and he was all good for the rest of the film.  I can't wait to take him to the zoo - but that will have to wait until we go to Little Rock in a couple of weeks.

Well since my last post, Gage has gotten tubes in his ears - which went off without a hitch.  He is also pulling up like a champ.  He pulls up on anything that will stand still long enough - including the dogs.  Gage is into everything, which I am so not use too!!  He likes to turn off the computer while I am on it.  I'll be typing and all of the sudden, Internet Explorer shuts down and windows logs me out and then black screen.  I look down and Gage's little round face is just cheesing at me.  He has also learned the word "hi" and the proper use for it.  Whenever we go some where, Gage greets all that walk by us.  It's pretty cute!  I have also recently joined a yahoo group, that has other mothers of 48 children and some people actually dealing with some variation of this syndrome.  I found out that there are two different conferences this summer for x, y chromosome disorders.  Not sure yet if we can go - it's pretty expensive.  There are a couple of other mothers I have been speaking to, and it's nice.  They know exactly what I'm up against.  I want to say thank you again, to everyone that has given me encouragement and supported me and my family.  All the comments on this website and facebook, have been amazing, and I appreciate them so much! 

Well, I just created this site. I am excited - it was a goal of mine as soon as I found out Gage's diagnosis.  I will post updates of Gage's progress and new things I discover along our journey!  Thank you all for the support!!