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. 

I haven't blogged in awhile. You ask why now?  Well I'm up at this ungodly hour.... 5:00 am.  Troy has been up on  & off crying all night, which has made for a very long night.  The night before wasn't much better. Now shots played a major part in his lack of sleep Thursday night.  He ran a fever most of the day & was just not up to being his perky self.  We did manage to keep his temperature under control & escaped a trip to the emergency room.  I was nervous though that we were making the right decision..  I opted on giving him a double dose of the cortef & giving him liquid tylenol. Within an hour his temperature dropped from 101 to 99.  Then we kept checking it every hour. 

Troy seen Dr. Curry on 9/4th for his well child visit.  He also received his 2nd set of shots.  He now weighs in at 15 lbs 4 oz & is 26" long.  He now is in the 18th percentile for weight & the 40th percentile for height.  Definitely an improvement from his last visit on 6/17th in which he weighed 11 lbs13 oz & was in the 12th percentile for both.  We didn't hear any more talk about him taking growth hormone much to our relief. So,overall he seems to be doing very well.

He continues to reach his milestones.  He rolls everywhere & it is hard to keep him contained to one little area.  He has discovered his  hands & feet & can be seen quite frequently playing with them. Changing him has become a struggle as he tries to roll away from you & dressing him is like dressing an octopus.  In every way Troy is developing like a typical 5 month old baby except he is legally blind. So far I don't see any improvement in his vision but am optimistic that his sight will improve as is the case with many children with SOD.

Troy seen Dr. Lebel a genetics doctor on 18th.  I will try to post the results of that doctors visit shortly.



Patty
Mimi to one special little boy Troy

Manhattan Moon

Last week we enjoyed a dinner with the family at my cousin Kim's restaurant the Manhattan Moon on Oneida Lake.  We had quite the turn-out and I was happy to get together with my family once again. There is nothing more important then family.  I think we all need to stop sometimes and reflect on this.  It was bitter sweet driving by Constantia Cove.  I couldn't help think about all the times we enjoyed out there.  I wish Uncle Mel, Aunt Betty, Uncle Dick, Uncle Bill, Aunt Mary  & especially my Dad were still around to enjoy it with us.  I miss them all and I have fond memories with each & every one of them. 

                        Picture of some of the first cousins at Manhattan Moon in Constantia

                                                        Picture of the Happy Boy

 Troy continues to amaze me everyday with his silliness.  This picture was taken by his mommy after she was beeping his nose. He thinks everything is funny these days.  He eats up all the attention you can give him.  Mimi love you so much Troy Boy.

FAMILY REUNION

It has been quite hectic here lately w/ a whirlwind of activities.  Last Saturday was our family re-union,  I enjoyed getting together with the whole family and we had a really good turn out this year. The weather was absolutely perfect not to hot and not to cold...low 80's.  Unfortunately the beach was closed because of to much algae.  The kids were a little disappointed when they couldn't go in the water but were content having fun with the water balloons.

Family has been in from California so we have been spending a lot of time with them before they head back Friday.  Tricia & Tim & the family left Monday.  We miss them already. I love seeing everyone but it makes me sad when they leave.  Hopefully next year we will be able to fly to California to see them.  It has  been a few years since we have been there.  Need to start saving now.

Got to go get ready for work. Troy has been up on & off all night which makes for a restless night.  I am so glad its Friday.  Sleeping in tomorrow....


Patty

Genetics Doctor

Today Troy seen the genetics doctor. They didn't do any genetic testing as of this point as I guess the chances of Septo Optic Dysplsia being genetically related is extremely small.  I was happy Troy didn't have to be stuck with another needle.  He now weights 13 lbs 3 ozs & is 24 inches long.  He is in the 15th percentile for both height & weight.  I was kinda alarmed by that as Troy looks good size to me.  I hope growth hormone shots are not in his future.  Some more puzzling information we received today is Troy has alot of extra skin around his neck which he said they would be keeping an eye on & his ears are low set.  So, he is not sure yet if anything else may be going along with this.  I don't believe there is.  God is still in control & I hold unto the belief that everything will be alright for him. 

Troy was bubbly & happy at his appointment for the most part. The doctors commented on how active he was.  He now likes you to bounce him up & down while he stands. He will laugh out loud. I love hearing his cute little voice.  We dont have go back to see this doctor now until he is a year old.  So yeah!!!!

FIRST HOSPITAL SCARE

Monday I came home from work to find Troy with a raspy croup type cough.  I hesitantly packed a few bottles & diapers & headed to the emergency room.  Figured better safe then sorry.  After arriving at Upstate Medical Center I parked my car in the Emergency room section of the parking lot.  Pausing to stare at the sign that said 15 min parking only. We quickly gathered his belongings & headed toward the emergency room door to be greeted by a set of metal detectors & a security guard room.  SIGHS!!! What is this world coming to.  We half heartedly threw are belongings on a table & scurried through the metal detectors.  Pausing briefly half expecting the thing to erupt in a shrilling sound. Intruder Alert!!! Intruder Alert! When nothing happened we gathered our belongings (purses, diaper bag) only to have to pass them to the security guard who quickly rummaged through them asking if we carried any weapons, nail clippers, pocket knifes, metal etc.  When we passed  all security points we were allowed to go to the reception area where we were able to tell a nice person the reason for our visit.  I can tell she was not overly impressed when I told her Troy had a really bad cough, along with stuffy nose & congestion.  I could read her thoughts as she reflected on what I said...obviously she thought we were overreacting to what was obviously a minor cold.  Then I dropped the bomb shell.  By the way our doctors have insisted when we visit the emergency room to state right up front that Troy has endocrine insufficiency.  That perked her interest.  I quickly explained that he was cortisol deficient & thyroid deficient & had billateral septo optic dysplasia. We then sat a very brief few minutes & then he was whisked into a room where he was greeted by several doctors & had a battery of test.  Poor kid was invaded in every end possible.  He had blood work via an IV, urine test after being catheterized,  temperature taken rectally, tube shoved up his nose to see if he had the flu, thrown in some device that held him immobilized while they did a chest x-ray.  Every part of my being just wanted to whisk him from there, as he screamed endlessly while they poked & prodded him.  I felt so bad for him but knew it was necessary.  I was alarmed when they told me he had a fever of 100.5.  They quickly game him a stress dose of cor-tef & then some tylenol to bring the fever down.  We sat & sat waiting for all the results to come in.  I was relieved when he doctor finally said that everything came back fine & he had an upper respitory infection & was able to go home. First they checked with his endocrinologist to see how they wanted to proceed with the stress doses of the cor-tef.  We were told as long as he didn't present again with a fever, just to give him his regular dose every 8 hours.  We spent 6 hours in the emergency room but it was worth it all to know that it was safe enough to keep him at home.  We were all dead tired but relieved to be able to bring him home.......

Troy is so precious & so sweet.  His silly little antics just bring a smile to my face. Boy does he have everyone trained on how to take care of him,  in just the few short months he has been here.  He really likes to be held one way & one way only.  He curls himself under your neck in as tight of a ball as he can get with butt in the air.  It's so darn cute! 

He is super strong.  He has rolled so many times I have lost count.  PHHHT to the doctors who told us Troy  displayed weak muscle tone in his neck.  If they could of seen him roll at just 3 weeks. old  I am so thankful for the progress he is making.  I know Jesus has his hand on him.   Please if you are a christian and come across this blog please pray that Troy has a complete recovery.  Let the doctors be amazed at the changes they see in him that they may know the one true God is a mighty healer.

Doctors Appointments & More Doctor Appointments

Again I am starting to feel overwhelmed. I  have this gut wrenching knot in my lower stomach that is just waiting to overpower me and bring me down into the dark sickening abyss.  Although Troy is doing well medically I cannot help but worry about what his future may hold.  I am also worried about Caitlyn's future. If she cannot pull herself out of this rut & move on in the end it is going to affect Troy.  No matter what I say to her or how much I plead it doesn't seem to matter.  It just makes me so sad that she is throwing so much away over someone who isn't worthy of her.  Oh how I wish my children could just learn by my life experiences in stead of going through the school of hard knocks. Enough of this it is not bringing me any peace like I thought putting it into writing would....SIGHS

Troy had his 2 month checkup with his pediatrician. He now weighs 11 lbs 13 ounces. They gave him 3 shots which made him rather miserable yesterday.  Poor little guy.  Tomorrow he returns to the endocrinologist to recheck his thyroid levels &  we have another meeting with early intervention to put a plan into effect, as to how best to help Troy.  So a lot is going on. 

He continues to eat between 6-7 ounces of milk every 3-4 hours, and is sleeping through the night at least 1/2 of the time. He babbles & coos much to our delight and is happy when you talk to him. He can now stand up pretty good on his legs when he feels like doing so.  He holds his neck up fairly well & has rolled on several occasions.  He seems to be hitting his milestones so I am anxious to see what early intervention has to say regarding our boy.  I am amazed every day by his accomplishments.  I continue to take one day at a time without looking to far into the future as no-one seems to have the answers we so desperately seek.  It seems like we have so many doctor appointments & so few answers. I continued to hold unto the Hope that we have through Jesus....that he will bring us through this.....

Patty

Taste of Syracuse

We went to the Taste of Syracuse today in Clinton Square.  We did gravitate towards those State Fair Type foods.  We indulged in Deep Fried Oreo's & deep Fried Cannolis.   Then we washed it down with a Strawberry Banana Smoothie.  Yum!!!!  Troy even seemed to enjoy himself...slumbering through the first hour in his stroller & then cuddled next to his Mom in the carrier.

A big hit was the $1.00 sample items that many of the local restaurants & stands participated in.  Who knows next year I may get a little bit more adventurous & try Fried pickles or Chocolate covered bacon.


 

Ophthalmologist Appointment

Troy had his Ophthalmologist appointment on Tuesday.  After checking both his eyes they determined that his nerves are now sending signals to his brain & his eyes are now reacting to light.  He said that probably the right eye will have better vision then the left eye.  I was happy with this bit of news because at 3 days old he was not reacting to light at all & his eyes were dialated. At this point we still won't know for awhile to what extent he will be able to see. The doctor  said to try not to worry about it because a lot of these kids end of seeing a lot better then projected.  He did say he was going to register him with the county as legally blind, so Troy will be able to receive more services. He did say that could change in the future depending on how much Troy's sight improves. I am optimistic that with the Grace of God that Troy will continued to improve & what a testimony it will be.  I thank God for him.  He is truly a blessing and we love him very much.

Feedings with Troy continued to be a struggle.  He will drink a little of his bottle and then spit out the nipple & cry & fuss. Sometimes just stiffening out his body & then he will settle down & take a few more sips then it starts all over again. We have changed his formula to Similac Gentlease & now to Similac Prosobee. I am beginning to think its some type of sensory issues. He will eat good for a couple weeks then he presents again with the same issues.  Today has been a little better so please pray that Troy continues to improve in this area.

  

A FULL NIGHTS SLEEP

We finally got Troy to sleep through the night. He slept from 10:00-6:00. He is currently playing on the floor kicking & waving his hands.  The key to a good nights sleep was just to let him cry it out a little.  He woke up about 3:00 and Caitlyn patted his back & put him in his crib & he went right back to sleep. I hope to have a repeat of this tonight.

He has been extra cute today & loves to babble after he's content of course with having just finished a bottle & has a clean diaper. Oh how I love this little man.  He melts my heart everytime I see him smile.

I bought him a Mickey Mouse outfit today. I envy the cute little girls clothes & when I come across this outfit I couldn't resist it.   Hmmm...wondering how he would look in a tu-tu. Uggh!!!


Ok well it's late & I'm babysitting tonight while Caitlyn has some alone time.

Dunkin Donuts

I am craving a Stawberry Coolatta from Dunkin Donuts.  The Coolatta is like a Fruitista Freeze from Taco Bell. Caitlyn & I have been on a kick lately & have been stopping quite frequently.  She prefers the Coffee Coolatta which is not for me.  The only coffee this girl is drinking is Hot Coffee. 

EXHAUSTION HAS SET IN

Caitlyn & Troy have been sick all week with a cold, and I'm on the verge of the onset of one myself. I have been on high alert in case he in running a fever, and we need to give him a stress dose of the cor-tef.  On top of  everything he is waking more during the night, because he doesn't feel good so we are drained.  He is 8 weeks old so we are hoping he starts sleeping through the night soon, but I am petrified of what I hear that kids with SOD do not sleep good.  I just don't know how much longer we can take the sleep deprivation.

I got my new-to-me car which I so desperately needed.  It is a Pontiac Grand-Am. I love this car!  The only down side is it's a two door which makes it a little more difficult to get the car seat in and out. I love the sporty look though & I'm glad I got a car that I really like. 

So, that about it....not an exciting post


Patty

Troy had an appointment with the endocrinologist last week. He is now on synthroid in addition to cor-tef. She said he was borderline, so she felt she should start him on it.  I can't tell you how disappointed I was.  It just seems so overwhelming at times.

We do have some good news to share.  We had early intervention in for his evaluation, and they said he is doing great, and that if he hadn't received a diagnosis of Optic Nerve Dysplasia that at this point he wouldn't even qualify for services.  I was elated to say the least.  We have heard from several doctors that he displays weak muscle tone in his neck.  Now I must brag a little bit about our little man. He rolled from his stomach to his back at 3 weeks old. So, I just thank God for keeping his hand on him & continuing to help us through this situation.

For Mother's Day we went to Tully's for dinner with family & friends. We had a great time and then we went back over my brother's house to celebrate my nephew's 19th birthday with cake & ice-cream. It was a nice way to spend the day.  Hope everyone had a Happy Mother's Day as well.


Patty

Septo Optic Dysplasia

Troy was born 3/26/2013 at 10:06 pm.  He came into this world weighing a whopping 8 lbs 5 ozs and was 21 1/2" long.  I was thrilled to have my first grandchild.  We spent a little over an hour getting to know this new little being that was going to quickly take over our hearts.

After his first bottle feeding the nurse started to wheel my daughter & the baby to a permanent room where they would both stay until the baby was released.  I was thinking to myself,  how great it was that Troy could  stay in the same room with his Mom.  It was a warm & cozy atmosphere.  It was now past midnight and I decided it was time that I head home, to give the new Mom & Dad some time alone with the baby.  However,  I lingered when the nurse said she was going to give him his first bath.  She pulled out a thermometer first to take his temperature. He was colder then he should have been, and she then listened to his chest.  Troy was having respiratory problems.  She quickly explained to us that she was going to take him to the NICU.  A 1/2 hour passed and she informed us his sugar was low, and he would be spending the night in the NICU.   I could see the disappointed look wash over my daughter's face. I assured her that he would be fine and he would probably be back in the morning.

Morning came & with it came more upsetting news.  We were told Troy's eyes were dialated & not reacting to light.  They needed to do additional test to determine what was going on.  An MRI was scheduled.  We anxiously waited for the results. We were then informed that they didn't find any cancer in his brain.  At this point we didn't know that they were looking for cancer.  It was shocking to know that this was what they were checking for.  Any test that came back positive gave me confidence that they were just being over cautious because he was in the NICU. An EEG was done this also came back normal.  Still we waited & waited...days passed & more test were done.  An optomologist came in from another hospital & we were told again that his optic nerves were small.  We began to ask more questions.  Would he have vision loss?  This was answered with a "yes". He scheduled an appointment for a follow up for 3 months.  Next came a appointment with an endocrinologist. The endocrinologist told us Troy was cortisol deficient. He would have to be given medication to replace this.  After he was given cortisol he became more alert.

Troy stayed in the NICU a total of 2 weeks & 1 day.  He was seen by many more doctors including a neurologist & many more test were done.  We finally received a diagnosis that Troy had billateral septo optic nerve dysplasia.  A rare condition that happens in 1 in 10,000 births. 

I hope by creating this blog we can see Troy's progress & share with other parents or grand-parents who may be going through the same thing.

Patty