Thursday, July 19, 2012

Ambrose is 4 1/2 today!

Today is Ambrose's half birthday!  Hooray for my little champ!
I am so proud of him evey second!  And I am so grateful to be his
We had a wonderful nap together this afternoon.  Heaven!

I just made this shirt for Brosie.

Ambrose just had another ultrasound of his kidneys and appointment with the nephrologist to follow up on his renal calcification.  The ultrasound did not look any better and was possibly worse.  There is a lot of calcium building up in his kidneys.  The diuretics do not seem to be helping him to clear it, although the doctor thinks it might be much worse without them.  He wants us to increase Ambrose's free water by 250 mls a day.  I am gradually working up to this amount.  Also, his potassium is again extremely low at 2.8 (normal range is 3.5-5.0) so his Potassium supplement is increased to 4 times a day.  The good news is that his urine calcium is the lowest since they discovered this problem well over a year ago.  It was 0.58 (normal is 0.2; his last one was 1.2)
His neurologist and GI doctor were both quite pleased with how he is doing.  The neurologist commented, "You're taking such great care of him." 

He keeps biting his tongue

Potty time!

For a long time now, Ambrose waits until a few minutes after waking to pee.  I recently got him a
potty seat and put him on it upon waking and it worked!  For the next few days, every time I put him on it after he woke up, he peed.  Unfortunatly I then noticed he had developed bruises on his bottom and thighs in the areas in contact with the seat.  I am giving him time for his bruises to heal and purchased some foam to try to cushion the seat and try again.

Kindred spirits

Well I am delighted that one of the moms I became aware of through the genetic study got in touch with me.  (A Canadian hospital claimed to have found the gene that causes Taybi-Linder Syndrome and our genetics department got us involved in this study.  The results were that Ambrose did not have this gene but it is believed that he has this syndrome and that there may be another gene that can cause it as well.  Later we were contacted again because this study identified 2 other families who have also had 2 affected children who also tested negative for this gene and they wanted permission to do a more indepth genetic analysis.  I was so excited to hear that there are others, and asked for my contact information to be sent to these other families.)

My new friend lives in Canada and has lost two darling boys with this syndrome.  Tragically their lives were extremely short and the second died only a month ago.  My heart breaks for her, but we are both so happy to be in touch.  I hope that I can be a support for her.  She is a wonderful mother!

We have found so many striking similarities between our children.  (There are so few cases ever reported that the information is so limited.  There are many distinctive features that Sophia and Ambrose both share but I never knew if they were common to this syndrome.)  Some very specific details that all of our children share are: index fingers that cross over the middle finger, the last joint of the pinkies are bent at 90 degree angles, they have high vaulted narrow palates, and most significantly: unusual anatomy of their tracheas.  I have never seen this mentioned in any literature and it is so very important as it contributed to her children's death and has caused many episodes of respiratory distress in Ambrose before they finally figured out an appropriate custom made trach tube.

Ambrose feeling better

Well it has been a long haul.  He started to get better, then had some more fevers.  He did not need to be on the vent during the day, but he still had such copius secretions.  Ambrose was sick for about a month but was able to beat this thing at home!  It was likely a virus. but two different antibiotics were tried "just in case", which reaked havoc on his system.  He is not quite back to his baseline O2 but he is so much better.