I have not updated in awhile.  Troy continues to do well.  He is now 18 months old and weighs 22 lbs.  He is between the 25-50th percentile for both height and weight.  The endocrinologist is happy with how he is doing.  We are happy that he is continuing to grow at a good pace.  His sight continues to be the same.  He has no sight in his left eye and is light perceptive in his right.  He is cortisol deficient and is thryroid deficient.  Despite taking the cortef that lowers his immunity he continues to be fairly healthy.

He is a very bright and happy little boy.  He amuses us with his silly little antics.  He is not walking yet.  He loves to slide off our laps and stand with support.  He mimics noises we make and laughs with this hysterical little laugh.  oh how I love this little boy to pieces.  Please pray for Troys sight and that he continues to remain free from any types of sickness.

Troys First Chrstmas

We had a wonderful Christmas, but I am quite glad its over.   The hustle & bustle of Christmas shopping can be quite overwhelming. We had a nice leisurely day with Troy waking up at 7:30.  Caitlyn wanted to shower & get around before letting the baby open up his presents.  She wasn't willing to have the messy hair, pajama toting look for pictures.  Can't say that I blame her really.  If anyone knows Caitlyn though,  it takes forever for her to get ready - 3 hours to be exact.  By this time Troy had taken another bottle & zonked back out.  He woke up around 2:00 & we opened up presents with him.  He loved helping rip pieces of wrapping paper off his gifts.  Why is it that babies love wrapping papers & boxes? 

Christmas dinner was spent with my brother & his family & my Mom & Dad.  We had a delicious roast beef dinner.  Overall a great day with family. 

On the health front Troy is doing wonderfully.  He now weighs in at  19 lbs and is 28" long. He was in the 40% for height & weight.  Dr.  Stread was quite pleased with his growth.  She seems to think he is almost out of the woods for developing growth issues, so as of right now we don't have to put him on  growth hormone replacement. He is now starting to sit up on his own  & can get up on his hands & knees to crawl with some support, though he doesn't make any forward movement. 

Hope everyone had a Merry Christmas & to all a Happy New Year.

It has been extremely busy around here so I have not posted in awhile.  I first would like to share Troy's 1st Halloween picture.  He was by far the cutest skunk ever, though I may be a little bias.  Simone even decided to join in on the fun and dressed up as Yoda.  Her picture says it all....what a lack of enthusiasm.

We took Troy back to the Ophthalmologist on the 4th.  I knew there wasn't a change in his eyesight, but to hear it again was quite overwhelming.  I still hold onto hope as his right eye is reacting to light.  The left eye is not reacting at all.  The doctor did say his brain is still growing & maturing so the verdict is still out on whether his eyesight will improve or remain the same.  It is rather frustrating. 

Troy weighed in at 18 lbs 2 oz and was 27" long on 11/14th.  We are working with him on his sitting skills.  He hates to sit up even though I think he is quite capable of doing so.  He is now 8 months old.  He babbles but has not made any noticeable sounds such as D, B , or M sounds.  He is a very happy baby always laughing & jabbering.  His health continues to be great.  He has not had any major medical issues.  The only time we have had to stress dose him with Cortef is when he has had his shots.  He seems to run a low grade fever the next day.  He is a very active & energetic baby & I just love him to pieces. 

Dec 5th marked the 30th year of my father's passing.  For some reason it hit me like a ton of bricks this year.  I fest overwhelmed with grief & had myself a good cry.  It seems strange that I am now older then he was when he died.  The little girl in me still longs for my Dad.  I miss the closeness that I shared with him and pray he is in a better place.  I so wish he was here to see the grandkids, & to see Troy his first great grandchild  He missed so much in life.  Those of you who have your parents hug them a little tighter and be thankful they are still around to hug.

Have a wonderful Christmas & New Year.

Patty
Troy's Mimi

I went to the WIC office yesterday to pick up some more WIC checks to cover formula, cereal and  baby food for Troy.  This program has truly been a blessing as well as a lifesaver for us.  Truly I don't know what I would do without it.  Just so thankful we qualify for something.

Reality did set in when were at WIC office though and I will be honest with you....sometimes I just like to tell myself that everything is going to be fine with Troy.  I think this is a coping mechanism for me.  When I looked around at some of the other babies that were Troy's age or younger, I did feel for a brief moment just an overwhelming sense of grief  I observed them as they glanced around & were reaching for toys, something that Troy has never done.  It just saddened me that he can't experience these things.  Everyday we wait patiently wondering if this will be the day he reaches out to grab something, or is this all the sight he is ever going to have.  I just can't understand how this could happen.  When you have had a healthy pregnancy you expect your going to have a healthy baby.  No one gives you instructions on how to take care of one that is not.  I hate when I have a pity party.  I love Troy and  I just want him to be okay.  SIGHS

Troy I love you always & will be here for you....

Troy's
Mimi

Is this post to personal

This post may be a little personal but here goes.  Troy has been to see another doctor.  Surprise, Surprise!  I seriously have lost count as to how many appointments we have taken him to.  This time we had to have them look at his testicle as it has not descended.  The doctor at this point doesn't seem to concerned and is hoping it will drop on it's own by a year old.  I was relieved to say the least as he has been through so much in his short little life.  He is always so happy & cheerful despite what he has been through.

His new thing that he is enjoying is his jumper.  He will stay in that thing for at least an hour at a time and boy does he jump.  If you even mention the word jump when you are holding him he gets excited & will try to jump no matter what position he is in.  He is such a crazy little boy & I love him so much. 

The eye lady came over from Early Intervention today and now informed my daughter that he is not reacting to light at all.  I just don't know what to think.  How could he be at one time & not at another?.  It is just so overwhelming at times.  I am going to stick by what the opthamologist said, as I feel he is a lot more educated then this lady from Early Intervention.  Oh, how I just want his eyesight to improve.  It is so hard to deal with at times and I get overwhelmed, and then I hold him and he is just so darn happy its hard to stay depressed for too long.

More pics of the little man....He is growing by leaps & bound.

SLEEPY BOY

Love you Troy Boy
Mimi

Ready to Pull my Hair Out

Seriously I am ready to pull my hair out of my head.  Troy has been on a roll the last couple nights literally screaming all night long.  We are trying our best to get him to sleep through the night.  I am not so sure this crying it out technique is going to work for him.  He is on about his 3rd hour of crying.  He stops for a little while only to gear himself up for the next round.  There is no reason for him to be crying really - He has been fed & changed.  We have tried patting his back & talkng to him to try to get him to go back to sleep....Nothing works!!!!  It is very frustrating.  They will not put him on anything to help him sleep until he is a year old.  Then there is no guarantee that will work.  Sighs!!!!  I can't tell you how frustrating this is.  The only one's that can even know what we are going through is someone else who has a special needs child.  A month ago he was sleeping fine - almost 9 hours a night.  What happened?????

GENETIC REPORT FROM DR. LEBEL - Troy seen 7/18/13 at 3 months of age

Here is a copy of the results from the genetics doctor.  I'm afraid it offers more unanswered questions than we had previously....

Differential diagnosis for an individual w/ developmental delays and/or malformation(s) must include1) normal familial variation 2) sporadic events 3) environmental or teratogenic events. 4) chromosomal (aneuploid) states 5) heriditary (mendelian) traits and 6) combination of these.When multiple abnormalities are present, it is difficult to accept either a sporadic event or a teratogenic influence. Rather, it is more likely that a genetic cause (either mendelian or chromosomal) is involved. 

This patient is remarkable for septo-optic dysplasia and adrenal insufficiency, with a few dysmorphic features (low set ears, small penis, undescended testicle, anteverted nares and epicanthus inversus),making him discontinuous.  The family history is unenlightening. We have no evidence of potentially teratogenic events.  It is obvious that we are not seeing one of the more common major aneuploid states but small deletions and duplications may present w/ diverse (uncluding apparently minor) features. In this case any inheritance pattern is possible (except for direct inheritance from an affected parent).

The London Dysmorphology Database (Winter and Baraitser, 2013) is useful in searching for candidate syndromes.  Searching the database for syndromes characterized by low set ears, anteverted nares, bulbous nasal tip, diastasis recti, redundant nuchal  skin, small penis, undescended tessticle, adrenal insufficency and dysplasia of the optic nerves, we find over 1400 syndromes with at least one of the features of interest. We find no syndromes with all 9 of the search criteria, nor do we find any with 8, 7 or 6 of the search characteristics.  There are numerous syndromes with 5 of the search criteria, none of which are attractive candidate syndromes due to lack of pathognomonic features of these syndrome in this patient.  Of these, the only syndromes that actually included the most salient features (septo-optic dysplasia), was CHARGE syndrome, which appears to be a poor choice for this patient.  Some of the other were involved with copy number variants, and this might be worth pursuing if developmental patterns do not prove to be normal.

We should make note that the child's mother was only 16 at the time of birth, and that isolated sporadic septo-optic dysplasia is associated with early maternity.  Thus it could be an isolated nonsyndromic event, but close follow-up is indicated because there are some other suggestive signs of dysmorphism and we would not want to miss the opportunity to detect early any signs of disordered developmental patterns.  It is, however, recognition of her current favorable pattern and the possibility of a nonsyndromic event that leads me to offer no genetic test at present. 

Since we do not have a final diagnosis, we cannot know the actual recurrence risk. It might be less than 1% (associated with a sporadic event), but is also could be as high as the 25% that is associated with autosomal recessive inheritance.  Consequently, we should assume the latter until or unless we can disprove it as our hypothesis.