Today's Appointment 4/23/13 ~ Endocrinologist

I am hoping this all comes out right because I am super duper tired tonight and should be in bed.  However, if I don't type this out tonight I am afraid some information might be lost.  Today was extremely stressful.  I attempted to get to the appointment early as we had not seen this specialists before, but that didn't work out.  Atlanta traffic worked against me the whole way, although it could have been much worse.  Then the parking garage to the hospital was full so I had to go to the other parking garage.  That made it so I had to carry my 25 lb boy through four buildings and two overpasses before getting to the correct location, 5 minutes late.  Ugh!!  I finally sat down and filled out paperwork trying to calm down.  My phone was ringing, Thomas wanted to go home, and I was having to think about how tall my husband's mom is.  What?  Got through the paperwork and checked my phone, my middle child was running fever at school and needed to go home.  Actually, I had two phone calls one mentioning each of my sons, so I thought they were both sick and needed to come home.  Luckily, it was just one and there was some confusion.  Called the hubbs got that done, Called the Ped and set up an appointment.  Heard the lady behind say she had been waiting two and half hours to see the doctor.  I refused to panic at this point.

Luckily, it was not THAT long and it was a pleasure to meet her.  She was very calm and thorough.  We went over medical history, growth charts, nutrition, etc.  She was even familiar with Klippel Feil Syndrome! I was very impressed.  She had not heard of the Townes-Brock Syndrome but assured me she would do her research and share any discoveries related to hormone production or alike.  She knew that KFS did have the trait of short stature and most times hormone therapy does not work for such individuals.  I found that to be interesting.  Again, I am not seeing her because I am afraid he will be too short or small, I am more concerned about any other underlying issues that are related or causing it that can be addressed.

She stated that clearly he was small for his age but she was going to back and check to see how his birth weight ranked for his gestation period.  She stated something about small babies not growing appropriately to age 2.  I honestly can't remember the relation at this point but she is going to check.  Thomas was 5 lbs 9.5 oz at 35 weeks and 4 days gestation.  We are doing a preliminary tests and then based on those results we will make the next move if there is one.  She is definitely going to continue to monitor him since he has had flat lines in his height growth and a history of problems maintaining weight.  He has had large dips of dropping weight based on his curve and we have to work to rebound.  She said at this point she isn't worried about him being malnourished but his body may have a hard time absorbing certain nutrients or minerals that could be working against us. 

We left the doctor and went to the lab for his lab work.  Held screaming baby down while they filled over five vials up for his blood work.  I was impressed at the level that she was going to test him for including liver function, kidney function, gluten tolerance, testosterone levels, etc.

 Again, more stress holding my sweet Thomas.  Its not often that we have to do blood work.  Thank goodness.  Then it was off to the hospital across the street for an x-ray of his hand.  He screamed bloody murder through this easy test as well.  I pinned him down another tech got him to lay his hand up there.  This is a Bone Age test that she wanted.  I thought it was interesting that she explained that she could predict his adult height with this test.  If the predicted height is 5'3" or less, then he would be automatically approved for growth hormones.  She discussed that there are quite a few side effects that should be discussed before taking that journey and that we would discuss them when and if we cross that bridge.  She also mentioned that it would mean a daily injection that I would have to give him and that I would be trained by a nurse to do so.  Eek!  Okay.  Oh, and it costs anywhere from $10,000 to $30,000 a year.  Sure, why not. . . makes sense.  I plan on applying for Katie Beckett again if it comes to that.  Just sayin.  So we wait.  She is going to call me with the results and we go back to her three months. 

We finally got home so I could take my middle child to the doctor.  All is well and today is done.  I will update you when I get the test results back from the doctor.  I honestly don't have a preference of how I want this to go, but it will be nice to have some answers.  Even if we just get to rule out some things that aren't an issue. 

I have to say, I got quite mad today.  I don't usually but the stress of the day just got on me and I started thinking about my baby's birthday is this weekend and I want to be party planning instead of spending my day here.  (Picture a little girl stomping her feet)  I then pulled myself together, thankful we had the appointment and would soon have more information than before. 

Done.  We are done with today, file it, stamp it and move on.  We are out of here!!

Philippians 4:6,7.  “Do not be anxious about anything, but in everything, by prayer and petition, with thanksgiving, present your requests to God.  And the peace of God, which transcends all understanding, will guard your hearts and your minds in Christ Jesus.”

Orthopedic Surgeon Appointment Results

Well, we are home now.  We had x-rays of just his back done today.  Good news is that things have continued to stay stable and there hasn't been any significant change.  The uncertain news is that the bulge on his back is being caused by a protruding bone off of his vertebrae in his lower back.  Sounds bad, right?  What is the world is that?  I don't have his actual x-ray but I did find a pretty good example:

 So, if you look at the picture on the right, that is sort of what Thomas X-ray showed in his lower back.  Only the top bone comes down much more and is very slanted and the bottom bone is a lot smaller.  The small bone piece that is at the arrow is larger and actually coming at you more.  This small bone is making a knot in his lower back. 

I took this picture just to show you from the outside looking what we can see.  Again, its not exact as I am doing it myself but the main thing is that the bulge is there and is quite significant.  The major question they kept asking me was if he was in pain.  My initial response is 'I don't think so'.  I guess he should be based on their expertise and the x-rays, but to my knowledge and the communication skills of my almost 3 year old he hasn't really complained of specific pain.  He does fatigue and such, but not pain.  Long term, I have no idea what this means.  The orthopedic surgeon is quite confident that he will be able to treat any scoliosis issues that may arise.  Which leads me to our next topic of discussion.

Endocrinologists.  I asked his opinion on the medical debate of the link between growth hormone therapy and worsening the conditions of his spine.  He stated he was aware and the reading and research and felt it was inconclusive.  He has had patients on all scales and there is really nothing showing a direct link.  He stated if we were referred to do such therapy on Thomas that it would our call but ultimately we would have no one way of knowing how or if it would impact the stress on his spine.  He has had children on it who had no change and others whose back began moving aggressively that weren't on hormone therapy.  Having said that, he did state that if we moved forward and Thomas' back began to change in such a manner that was very significant than at that point we would probably stop the hormone therapy and focus more on the condition of his spine.  Again, he was quite confident that he can treat any scoliosis symptoms that may occur since we have our eye on it and have been tracking it for so long. 

I did ask if physical therapy could help with this hemi vertebrae condition and the answer given was a flat 'no'.  Not sure how I feel about that to be honest.  I don't know what this means for Thomas' future at this point.  The orthopedic surgeon is also concerned about another abnormal vertebrae just below his neck and wants to review that one more closely when we go back in six months.  So, that's what I know.  I don't have many more answers, but we know a little bit more of what is going on with his spine.  We only go back if he appears to be showing pain or I see any other changes like fever, cold chills, etc.  Otherwise we will go back in October.

He did get very upset and anxious when we went back for x-rays.  They only did back which was good because the neck x-rays hurt him.  These don't, but he didn't understand that nonetheless.  He was so sweet though, he was crying that he had to go 'tee tee', which we had already been twice since getting there.  They told him to say 'cheese' for the picture and he did through the tears and the whimpering.  He also wanted his brothers, Tyler and Tanner which I thought was so sweet.  That was the hardest part, everything else was talking and looking.  We made it back from Atlanta in time to stop by the school for lunch with his brothers.  It made everyone happy!

Three goofy brothers at lunch!

If you have experience with a similar back condition, please share with us.  We are just taking this one appointment at a time.  No need to worry about the future as we do not possess a way of knowing what it may bring.  We will live, laugh and love as often as we can!!  God has promised great things for us.

"Not one of all the LORD's good promises to the house of Israel failed; every one was fulfilled." Joshua 21:45

Three appointments in April

I just wanted to update and share with you that we do have three rather large appointments this month starting tomorrow.  Tomorrow we go to the Orthopedic Surgeon to check on his spine, etc.  I am really hoping they will tell me that all still looks stable and he is doing well.  Although, I honestly am not sure how much longer they are going to tell me that.  I'm not trying to be pessimistic by any means, but more realistic.  This morning while putting Thomas' shirt on him for church I realized how much higher one shoulder was than the other one.  I realize its difficult for others to see this as I often don't see it myself.  He is so busy running around and playing and being well, so gosh darn cute, that we literally don't see the flaws.

Then on April 23rd we will have our first appointment with the Endocrinologists.  The reason for this appointment is Thomas' growth chart, or should I say the growth chart Thomas has created.  We know he will most likely be of small stature which that in itself isn't much reason for concern but with failure to thrive there may be other complications with his pituitary gland or alike.  His hormones in general may be affected and we want to be sure to address any of those issues as necessary.  As some of you might have seen on FaceBook, Thomas has finally gained some height.  I am thrilled to me moving from 12 month clothes to 18 month clothes for him!!  He still wears 12 month shorts, etc but a lot of the shirts aren't covering up that cute little belly and his arms have gained a little bit of length.  The experience has been much different than with my other two boys in that he is wearing out his shoes and clothes in much smaller sizes.  His feet haven't grown so he has been in the same shoes for probably a good year and a half.  Anyway, I will update after that appointment with any information or tests that we discover for our Thomas.

His last appointment this month is for his three year annual.  What?  I know, my baby is going to be 3 years old.  Its amazing how the time flies! This appointment really isn't one to worry about but just a chance to review his overall health with one of our favorite pediatricians.

Financially we have been okay.  I just thought I would mention that because a lot of you helped us out tremendously with donations.  We still do not have any State benefits for Thomas as he does not qualify.  We are looking to possibly reapply with new diagnosis.  Its crazy to me how nothing has changed with Thomas but through continued research and test we can just name it differently and changed the name can make a difference.  We have cut back on therapy this year due to costs, but I assure you Thomas is healthy and thriving.  We have no real immediate concerns at this time and hopefully that will not change.  Having said that we are holding our breath and preparing in case something does develop.  We have a savings account with funds just for Thomas' medical.  Its important for me to have some kind of safety net for the future.  Especially since our insurance company can be a bit cantankerous about some things like continuously not helping us pay for our sub specialists geneticists.  Looks like I am filing another appeal and making some phone calls at the off chance they will apply the over three hundred dollars to his deductible which is almost met for the year.  Luckily, the medical expenses are moving a lot slower this year than last year.

We love our little Thomas SO much and love sharing him with all of you.   He truly is such an amazing blessing for so many who have the privilege of knowing him.  He brings peace in our home, laughter and just an overall great deal of entertainment.  Think of us tomorrow and I will update you at my first opportunity.

Isaiah 43:2
When you go through deep waters, I will be with you. When you go through rivers of difficulty, you will not drown. When you walk through the fire of oppression, you will not be burned up; the flames will not consume you.