ENT Appointment ~ Next up Surgery

Last ENT appointment was in September and all looked good.  He passed his hearing test and appeared to have no fluid in his ears but possibly some pressure.  From that time frame until now his ears have not been able to stabilize and cannot move the fluid or pressure out as it should.  In visually looking at his ears today there was no doubt of his hearing issues since both ear drums were drawn back.

The Eustachian tubes cannot equalize pressure adequately. What little air enters the ear passes up the Eustachian tube and into the middle ear where it is absorbed into the surrounding tissue. This creates a low pressure area (a vacuum) that can then pull the eardrum inward or pull fluid from the surrounding tissues into the middle ear. If bacteria travel up the Eustachian tube from the nose and infect this fluid, an ear infection can develop.

So the verdict is he needs another set of tubes.  This will be his third set of tubes.  While I am not surprised and from the beginning of this journey assumed we would struggle with this for most of his life or at the very least his childhood, I was trying to be optimistically positive that his ears would overcome and work on their own.  The ENT said that without tubes we lead ourselves to more problems and issues that cannot be fixed and may cause permanent damage, but we aren't there yet.  He also said that without tubes his ears may be clear on there own once a year at the end of summer.

He will be putting in a more long term tube into his ear.  The tube is called the "U tube" and will last two to three years instead of the normal one year tubes.  Here is a visual difference:

Since Thomas was born he has suffered from hearing loss.  It is only through the use of these tubes that we have been able to restore his hearing.  This is a common procedure for many children and as they grow older the need for tubes is no longer needed.  However, this is not the case with Thomas.  His issue is not as easy to solve.  The other issue with Thomas we must consider is a child his age, 3, would normally just be put to sleep with a mask, tubes put in 10-15 minutes and then wake them up.  Due to the dynamics of Thomas neck, he cannot be manipulated with his head back in the appropriate position.  Therefore he has to get an IV and have a breathing tube even for a procedure such as this so that his airways are not in jeopardy at any time. 

The doctor also opted not to perform a hearing test today as it was evident that his hearing was being compromised by his ears.  Thomas was disappointed since I talked it up to him so much, but a little red lollipop made it all better.

I will update you all with the surgery date once we have it all planned.  Thank you always for your continued love and support for our little man.

Give thanks to the LORD, for he is good; his love endures forever. Psalms 107:1

Orthopedic Surgeon 6 month Follow Up

Today went very well, I hate to say it but I think Thomas is getting the hang of this.  This morning I told him he had an appointment and they were going to take pictures of his back.  Well, he freaked out and began to cry and pitch a fit that he didn't want to go.  I reminded him it doesn't hurt and it won't take long.  Didn't help as his anxiety leveled increased and he talked to me the whole drive to North Atlanta for the appointment.  I thought he was old enough to be able to process better. 

Once we got there a great man from radiology came and got us.  He weighed and measured him (Thomas weighed 29.2 lbs!! So Close!!!)  and then went to take his blood pressure.  Thomas started to freak with the blood pressure and the sweet man said you don't like it we don't do it.  Its more important to get the x-rays.

We then waited for him to come back and get us for radiology and Thomas started asking a million questions.  He also stated that they needed to have a picture on the blank wall, I agreed.  He was thrilled to realize that he had won the battle over the blood pressure cuff.  The sweet man came back for the x-rays and Thomas was amazing!!!  He stated he wanted to sit and not lay down but the man explained he had to lay down.  I don't know if it was the man himself or just that he was a man but Thomas trusted him and listened to him.  It was the first time that I did not have to hold my son in the apron for x-rays, I stood behind the window and watched. 

The doctor came in with copies of the x-rays and explained that basically his x-rays are boring.  He has grown a little in the last six months and his spine has made no significant changes.  Whoopie!!!  I questioned about his difficulty to sit criss cross applesauce and he examined him.  He stated that his hip movement showed some lack of range in motion and that is to be expected based on his spine.  He said that he indeed would be uncomfortable sitting in that position.  It was nice to have confirmation that what was observed in the classroom and at the table was indeed a physical limitation and not just a 3 year old attitude. :)  And with that we were done, off to McDonald's for his reward and we go back again in 6 months!!

As Thomas has learned to sing the song:

"The LORD has done it this very day; let us rejoice today and be glad." Psalms 118:24

How's Thomas doing?

 

I seem to be getting this a lot lately and it may have more to do with the fact that I have been slack on my blog.  I am so sorry for this. Raising three boys who are all in school and various activities has been keeping me extremely busy.  I have been trying to find my groove and routine but keep getting thrown around a bit more than I would like to admit.  In a nutshell, I think Thomas is doing good. 

When Thomas was born in April of 2010, he failed every hearing tests.  It was very traumatic for me to be holding my precious new baby in my arms and think that he can't hear me.  I still talked to him and sang to him as I had my other babies but sometimes tears would roll down my face as I did it.  I still vividly remember leaving our first follow up appointment confirming he couldn't hear and crumbling into my friend's arms in tears.  Once we were able to comprehend what was going on it was pretty easy to pull myself together.  We realized that hearing loss was a obstacle but something that can be overcome.  There is technology and information that will still make his life wonderful!!  We could do this and we would.  We have been through two surgeries and speech therapy and now you can't tell my baby ever had hearing loss.  In fact, at our last ENT appointment we were able to test and find out that for the first time ever his left eardrum is working on its own!!!  Praise God!!  Hopefully this means no more surgeries on his ears and we will continue to pray for healing on his right ear and no ear infections that may slow down our progress.  It was such a huge relief to me that his ears may give him less problems than originally thought.  In light of all the other issues that have been discovered with out little man, I didn't really want his ears to be one of them.

We have also seen the Neurosurgeon last month.  We did more flexion x-rays on his neck where he has Klippel Feil Syndrome that explains his fusion of all seven cervical vertebrae except between c3 and c4.  We have these to make sure the space between these vertebrae are moving as they should and not sliding.  If they begin to slide it will put his spinal cord in danger.  Luckily, both sets of x-rays show that we are still stable at this time.  We are very thankful for these results!!

Next up this month, is the orthopedic surgeon.  Both the Neurosurgeon and the Orthopedic Surgeon are concerned with his bone structure and his level of pain.  They both believe that he was born with a certain level of pain and we are trying to monitor if his pain level increases.  However, I am beginning to think he doesn't understand the feeling of being fatigue or discomfort.  Its one thing to feel a sharp pain like stepping on a rock verses the feeling of your back hurting from sitting too long.  We have learned that he cannot sit for long in traditional circle time and the teacher has made some adjustments that have made a great difference.  I am so happy for them both!! We still have issues at the dinner table, etc and I am going to bring this up at our next appointment.  I know they will do x-rays and we will see if his back has moved any over the last six months and go from there.  My prayer is that is hasn't.  I like stable.

Anything else you want to know, just ask!  

Thank you so much for reading, praying and supporting Thomas and our family.  It really is beyond my scope of comprehension and you are loved so much for all that you do for us. 

"'If you can'?" said Jesus. "Everything is possible for one who believes."
 Mark 9:23

Our Summer Update

Let me give the quick and skinny of things:

Our summer was fun, full and fast!  Thomas has been going, going, going which has been great for him.  He has stayed very active.  He has his regular bumps and bruises from falling or running into things which we have found to be normal with him.  Still not sure if its his low muscle tone or his eyes but its just him at this point.  It takes a lot to knock him down.

The biggest issue we have this summer is his ears.  We have still had some issues since our last ENT appointment.  He had an ear infection in his right ear which still has the tube in place that cleared up with antibiotics.  Now his left ear is tender, he is constantly messing with it telling me its bothering him.  I took him to the pediatrician and she said it did seem tender but she didn't see anything that showed an infection.  We did the drops twice a day for a week and they seem to do nothing but make Thomas scream in agony and pain.  I did the drops Monday through Friday and then quit.  Clearly they weren't working and just hurt him more.  I am debating on moving up our ENT appointment which is currently set for September 18th.  

Thomas has started going to preschool and loves it!! 

We are about to get into the season of specialists appointments.  Already set up is our follow up with the Neurosurgeon and the Endocrinologists.  I am still in the process of reviewing our appointments and specialists to set up the rest of the appointments.

Another issue that has surfaced in my discussions with other KFS parents in his heart.  A heart murmur in a normal child, without over complications, is not a big deal.  However, there is a history of patients with KFS that has a heart murmur that also have ASD and VSD.  We are due back to see him again in February of 2014.  I feel confident in waiting until then, but I like have more information to make sure he is screened for anything that might be overlooked.  I am not one for unnecessary testing, but as another mother said when it comes to certain things its never unnecessary.

I will be sure to keep you all informed as the appointments roll through and if anything changes.  In the meantime keep the prayers coming, they work!!

Thomas first day of 3k.  Still wearing 18 month clothes
and even some of those shorts are falling down.  Doesn't
slow him down and it never will!!

John 16:33 So do not fear, for I am with you; do not be dismayed, for I am your God. I will strengthen you and help you; I will uphold you with my righteous right hand.

ENT Appointment ~ June 2013

*sighs* today was long.  Seeing your child in so much pain can take everything out of you.  We had our follow up appointment today with Thomas' ENT.  I had gone in very prepared with my concerns, questions and even computer printouts on KFS and hearing loss.  Immediately, my concerns were heard and the doctor came in to check Thomas' ears.  He saw that the left tube clearly was out of place and not working properly.  It had been not looking right for about nine months so I was grateful that he had come to the conclusion that this must be rectified.  He said he wanted to go ahead and just take it out.  I agreed with him.  We walked down to the microscope room (which is never good for my little man) and pinned him down and the doctor dug in there and pulled it out.  Unfortunately, when he pulled the tube out he also pulled out some ear canal and left a small hole in his ear drum.  *sighs*  Like I said, it was not a good day.  Poor Thomas was in quite a lot of pain for quite a while and there was some bleeding for quite a while afterwards. 

Then I was left to calm him down to attempt hearing tests with the audiologists.  Luckily, I know how Thomas is and I had prepared myself with lollipops and my charged Kindle.  It did prove to be more difficult especially with the trauma he had just experienced.  We had to wait a while though which worked to our benefit today.  We finally were called back and first up was the Tympanometry which test for fluid, etc in the ear.  His right ear was working properly and tube is still in place.  Left ear was all wrong since well there is a hole in his ear drum.  The second test we tried to do with headphones, but Thomas was not willing to cooperate with those.  He did not want them on his head at all.  So, the behavior booth we went in mommy's lap.  He did very well in there.  So, that shows that he can localize the sound.  What all does that mean?  It means once again they can say he can hear acceptably with at least one of his ears but they cannot say at what level each ear is hearing.

The plan: We wait and see how the left ear heals.  Praying it heals completely and has normal hearing without any aid.  We go back in three months.  Depending on how the left ear heals, etc. our next surgery will either be a tube removal from the right ear or a tube replacement for both ears.  He assured us that no matter the results he will continue to monitor Thomas' hearing for quite a while unlike his other patients because he does understand the circumstances of his conditions.  That put me at ease as well.  I always feel like I am having to defend Thomas and explain this is not normal and nothing about him is normal.  I also had him explain to me how the tubes corrected his hearing so that I had a better understanding.  Most people assume we have tubes due to infections and that is NOT the case.  In fact, I think Thomas has maybe had one ear infection his whole life.

We did also get the Doc ProPlugs today fit for his ears and he seems to like them okay.  I talked them up as big as I could and even had help.  They are for him to wear to prevent any water from getting into his ears.  It was an issue before but now it is even a bigger issue until the hole in his ear drum heals completely.

On a side note, the audiologists mentioned that Thomas seemed very stiff when turning in the behavioral booth.  I just stopped and smiled and explained his neck fusion and she felt relieved.  She stated that she was not a physical therapists but it seemed unusual.

Our doctor did feel very bad about pulling the tube out today and apologized.  He said in hindsight he wouldn't have done that.  In most cases, with most children, the tube is basically sitting in the ear canal and can be just plucked out.  Thomas' however was more attached.  The doctor said he felt bad to have cause him so much pain.  I believe he was sincere.

Please pray that his hear heals and the hearing is restored.  I would love nothing more than to write ears off of our list of concerns.  If not, I pray that we continue to make the right choices for him to have healthy, hearing ears to the best of our ability.

James 5:14 Is any sick among you? let him call for the elders of the church; and let them pray over him, anointing him with oil in the name of the Lord

Endocrinologists Update ~ May 2013

The Endocrinologists called me back yesterday.  What I really liked is that she called me herself from her office where we could talk.  She stated that she apologized for being late in getting back to me but she had been out of town for a conference and then busy with clinics.  Basically, she explained that all of the test came back normal.  His liver and kidneys are functioning well, he is strong and healthy and seems to not have any issues with gluten, etc.  His bone age test came back at 3 years old, which is also on target.  So, what does this mean?

Well, we discussed that and we agree.  If he is healthy and everything is developing correctly then there is no need to intervene just because he is going to be short and small.  My initial concern was his lack of growth and small stature was a sign that something else was wrong or didn't develop correctly.  Growth hormones effect a lot more than just growth.  If he is just going to be small, I am good with that.  At most she the test predicts he will be 5'3".  She still wants to monitor his growth progress to make sure he continues on his own growth chart and there are no stalls, but other than that we are good to go!!

¹²The Lord will open to you His good treasure, the heavens, to give the rain to your land in its season, and to bless all the work of your hand. You shall lend to many nations, but you shall not borrow.

Deuteronomy 28:12

Thomas is "3"!!

As of April 29th, our sweet Thomas is three years old.  He has been so excited with all the preparations of baking the cake and getting the decorations.  Everywhere we went he would invite people over to our party.  And honestly, anyone could have come to celebrate our little man.  He was definitely given to me to share with all.  The party was a success. The reason I know that is because that night while tucking him into bed I asked him how was his party.  He answered me "weally awesome". 

We haven't heard back from the Endocrinologists yet.  I did call again yesterday asking for the results and they stated they would get a note to the doctor.  Okay.  Seems like I am doing a lot of waiting lately so its getting to be the new normal for me. I will update you all when I know more.

He had his three year well visit on Tuesday of last week and there were no surprises.  I like that!!  We weren't worried about his size since we are now under the care of the Endocrinologists.  He neck and back we are monitored by his specialists.  Same with his eyes and his ears.  She could not see the tube in his left ear, which isn't surprising.  That one side has been working its way out for about six months and our ENT is watching it for hearing loss.  We get his eyes checked week after next so we will have an update with them.  We are planning on having him evaluated by PT and OT just to make sure we are still on target.  With Thomas it has never really been the issue of reaching milestones but more of the quality in which he does it.  We want to make sure we are using his body the best that we can to reach these milestones and prevent pain in the future.  Speech, she mentioned his clarity wasn't the best, but again I am not concerned.  He is talking and expanding his vocabulary and for the most part people do understand him.  He is only "3"! I think he speaks well for a three year old and others agreed.

He was put on allergy medicine orally and for his nose as well as breathing treatments.  Its hard to tell if its a cold or allergies, but its gotten down into his chest so we are trying to knock it out.

What an amazing, crazy three years its been!!  I have changed and learned so much that I do believe that I am not the same that I was when he was first born.  I am so proud and happy to have him as my son.  He is one special blessing in not only our life but all who know him.

Born April 29, 2010  5lbs 9.5 oz

A boy and his bike, a love like no other!

James 1:17  Every good gift and every perfect gift is from above, coming down from the Father of lights with whom there is no variation or shadow due to change.

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.

Hearing - "Good Enough"

So today was our six month follow up with the ENT on Thomas' tubes and his current hearing.  We first discuss where we have been and where we are.  I mentioned the new diagnosis and he looked right up at me.  He admitted he had one other patient who also has Townes-Brocks Syndrome.  Then we both discussed how the diagnosis can help the medical professions but not necessarily change your child.  Did I mention how much I like him?  I do.  Anyway, he said the diagnosis just helps them to narrow down possible causes for the issues.

He then checked his ears.  As before the right one looks fine and the left one looks like its working its way out.  Its been like that for over six months and the tubes have lasted two years now.  So grateful he put in the long term ones so that we aren't having surgery every year.  Thomas does scream when water happens to get in his left ear during bath and will put his fingers in his ears a lot.  We don't have an explanation for this except that his ears just may be sensitive.  It is always interesting to note that his ear tag was in front of his left ear. 

Based on his findings we went to audiology.  Here is where its gets grey, yep, medical is not black or white, it is grey and fuzzy and. . . well, you get the point.  So, both ears showed no fluid so the tubes are preventing any fluid build up.  Yay!  In the sound booth Thomas performed at an acceptable level.  It was explained that at least one of his ears are hearing at a speaking level, which means he can hear and understand sounds that are at the level that most people talk in.  At this time, based on his age, it is 'good enough'.  This means there is a possibility that there are tones he cannot hear in either one or both ears, but for all intents in purposes it is most important for him to hear those talking around him and he can do that.  In fact, they were all very impressed with his speech and vocabulary. 

So, we go back in three months to check that left ear again and discuss if we need to do anything.  I am good with that.  A celebration in my opinion is that as we were walking out of the office the doctor told me that he really doesn't see any reason to suspect a long term hearing issue in Thomas' case.  He was born without hearing and got his first tubes at 5months old.  He then got his second set of tubes 12 months later which are the same ones that are in now.  He did not suffer from ear infections like normal children, but in each surgery fluid was removed.  The doctor mentioned that we could do a MRI to examine the interior of his ear for any malformations or such but that would mean sedation again for him and he doesn't want to do excessive, unnecessary testing.  Did I mention how much I like him?  Oh yeah, I did.  If as time goes on we continue to have issues it is always an option, but overall he feels this is more of a temporary issue and as his ears mature this will resolve itself.  We aren't out of the woods with another set of tubes, but I am over the moon with his words.  He said in his professional opinion he is going to be all good.  He would be presently surprised if something did show or develop.

I will take 'Good Enough'.  I am extremely grateful for 'Good Enough'.  At one time in my life that would have been something that I wouldn't have like to hear, but in Thomas' case I'll take it and smile!!  Next up is our three year check up and our consult with the Endocronoligists. 

I love this verse:

Jeremiah 29:11 For I know the plans I have for you, declares the LORD, plans for welfare and not for evil, to give you a future and a hope.

Quick Update - March 5, 2013

I wanted to make sure to thank everyone who helped support Rare Disease Day on February 28th!!  It was amazing to see all the pictures and stories shared on Facebook.  It was also nice to get questions and smiles from others when they saw my ribbon.  I am hoping that in years to come more people will know what it means and what it stands for.  Awareness is definitely key!!

Thomas is doing good.  We are trucking right along towards his 3rd Birthday.  Hard to believe how much time has passed.  He doesn't seem to be showing a lot of problems right now which is wonderful!!  There are some things that make Thomas stand out from his small stature to his wide vocabulary, but medically I think we are okay.  We get his ears checked the end of this month, three year check up next month and then our six month check up on his eyes the beginning of May.  So, we are a little spread out right now with specialists.  I do need to call and get him re evaluated for PT and OT to see where we are and where we should be.  I am always concerned about his back and neck and he does show some signs of discomfort, but nothing too bad.  I am also always trying to get the right nutrition in him which I may seek a nutritionist since this is an area I am not as familiar with.  We also still have the possible referral to an endocrinologists in the coming months. 

As for me, I am good.  I have come to realize that through these past two years many things have hit me hard and I have not learned a good way of coping.  As a result, this mom is in the worst shape of her life and is quite disgusted with herself.  Don't worry, I am quite healthy besides being overweight.  I have a complete physical in October.  I am now taking action beyond anything I have ever done before.  Finances are always a concern for me especially if its for me and not Thomas, but I truly felt God calling me to do this for me and everything fell into place as I could not have planned.  I have a strange peace about it.  So, now I have to put forth my time and effort and do the work.  I feel like I have to, for me, for Thomas and for God who has made this all possible.  I know he wants so much for me in this life and for my sweet boy.  Anyway, I know that is a bit personal but hey it's my blog!!

My ultimate goal: 1 Corinthians 6:19-20

¹⁹ Do you not know that your bodies are temples of the Holy Spirit, who is in you, whom you have received from God? You are not your own; ²⁰ you were bought at a price. Therefore honor God with your bodies.

Thank you again for always supporting, praying and thinking of us.  It is always appreciated and felt!

My silly Thomas!!  Love him!

Doctor's Notes ~ TBS Diagnosis

The sub specialists geneticist has submitted her report to us and our pediatrician.  I thought I would share the highlights with you.  She basically is stating that based on the variants in his SALL1 gene he is considered to have Townes-Brocks Syndrome.  This is an autosomal dominant disorder and as such if we were to get pregnant again there would be a 50% chance of having another child with problems like Thomas.  I had assured her that we were not looking to have anymore children at this time and therefore do not need to move forward with genetic counseling on that front.

We were currently aware that with similar disorders kidneys may be effected.  We had an ultrasound on Thomas' kidneys and all was fine.  However, there is evidence that young adults will develop kidney disease who have TBS, therefore, it has been suggested that Thomas has a CMP (Comprehensive metabolic panel) each year to check for developing issues in his kidneys.  We shoudl do the same on his thyroid as it was also suggested as this is another organ that may be affected by TBS and develops issues over time.

We also learned through the exome sequence study that showed that he may have a difficult time metabolizing certain types of drugs.  These drugs include but are not limited too anti-depressants, anti seizure medicines and certain blood thinners for the heart.  To me this is quite disturbing since any one of these may be needed in his future, but there again this is extra information we just happen to know that we can use in his future when and if needed.

I will be meeting with our pediatrician in a couple of weeks and we will review this information and adjust our game plan for Thomas as needed. 

Thank you for all you do for us.  Keeping praying and being positive for us!!  I hope someone makes you special tomorrow on this Valentine's Day.

"No one has ever seen God; but if we love one another, God lives in us and his love is made complete in us." (1 John 4:12)

Townes-Brocks Syndrome (TBS)

I really wanted to title this blog "God hid peanut butter in my van."  No joke!  I really wasn't sure of my expectations for today.  I always get a weird feeling in my stomach on appointments such as these.  Am I going to be disappointed? Let down?  The truth is that nothing has changed, he is still Thomas and he still has the same issues he has been having.  But to label it, diagnosis, name it adds a whole different dimension to it.  As a mother of child with unexplained structural, congenital issues when you first learn of them you want answers.  You want to define what it is, what caused it and most importantly what can I do to fix it.  As time goes on you learn that some things can't be defined, causes may never be known and there is nothing to 'fix'.  You grieve, you get angry, you ask questions and search for understanding, and you pray.  Today I was in a bit of a fog.  I got to the appointment with the geneticists one hour early.  Yes, that's right.  I took a 2 year old to an appointment on the other side of town and was there one hour early with no lunch.  Thomas had eaten at school and wasn't hungry and I wasn't.  I thought we will do this and then eat when our nerves are better.  But then we ended up waiting for one hour and then having our one hour appointment.  Oops.  Good thing Thomas didn't mind.  I also realized while we were waiting that I no longer had my van keys with me.  I sat in the waiting room very calm though thinking to myself , ' oh well, if the van is still there when we are done then so be it, if not we will figure it out.'  I didn't realize I was that early until after we had waited forty five minutes which gave me no time to grab food or check for my keys.  Fog.  Then we are called back and I start hearing genetic mutation, variant, VUS, SALL1, cannot dismiss, cannot confirm, bell curve.  Wait! Bell curve?  I know what that is.

She explained to me the results to the Baylor University Exome Sequence Study performed on Thomas' DNA and that of mine and my husband's.  They found a variant mutation of gene SALL1.  This mutation has been linked to Townes-Brocks Syndrome.  In there study they found that I was positive for the same mutation but my husband tested negative.  So basically in looking at the findings of Thomas' anomalies in comparison to the anomalies in Townes-Brock Syndrome she cannot dismiss this as a possible diagnosis.  In fact, she is writing in her report that this is indeed the result of her findings and this is his clinical diagnosis.  Official Literature Townes-Brock Syndrome
This link will send you to the real information collected by the National Center of Biotechnology Information if you would like to read more, it is not the google information or the wikepedia information as these can most times be misleading or at the very least terrifying.

To compare Townes-Brocks to Thomas I have created the following:
Eyes: So far, no vision loss
Kidneys: Thomas has had an ultrasound and all is well at this time
Hearing: Thomas has had hearing loss since birth, cause not yet determined, tubes are currently in place and working
Heart: Thomas has had an EKG and all looks well, but he does have a heart murmur
Gastrointestinal: Thomas has had acid reflux and bouts of constipation, but nothing to require a specialists
Face: Thomas had the infamous ear tag at birth which later fell off and has additional cartilage in the other ear  (this sounds small, but that dang ear tag is huge in the health world and these syndromes and its relation to hearing loss)
Lower extremities: Thomas' toes 4 and 5 on each foot curl and lean in quite a bit but again just a characteristic
Genitourinary: Cryptorchidism, we had surgery last year
Central nervous system: Duane Syndrome both eyes, and as for the behavioral issues listed well, I think it will take a lot more time before we know if he has any additional issues.  Some of the things I have read explain that behavior will mimic such things as ADHD and alike.  We will deal with those crossroads when they come.  Also, listed in this category is Arnold-Chiari malformation type I, which hasn't been completely ruled out in my opinion for Thomas.  His MRI last year showed characteristics of Chiari but again I think it will be more prominent as he ages.
Skeletal: This one we blow out of the water, it states fused ribs and mild vertebral anomalies.  Thomas has fusion in all cervical vertebrae except between c4 and  c5 and has butterfly vertebrae and hemi vertebrae throughout his spine resulting in scoliosis and kyphosis at this time.
Endocrine:  Congenital hypothyroidism - this term was new to me but definitely something for us to explore.  I will bring this up with our Pediatrician as we have already been discussing the possibility of an Endocrinologists based on Thomas' small stature.
Growth:  Seems redundant but it was listed as a separate category stating postnatal growth retardation.  Upon researching further this is simply failure of an individual to develop at a normal height and weight for their age

So as you can see for yourself, it truly is hard to dispute that this syndrome would be the umbrella syndrome overshadowing the cause of his anomalies.  The only other thing I can think of that wasn't listed was his hypotonia (low tone), which is easily detectable and something that could possibly be related.


Baylor has only been conducting such testing to the public for a year and has a limited database.  As the program continues and more data is collected, it is possible that they will find this to be a true diagnosis or it could possibly lead us to another one.  Either way, we are done.  This was the end of this path with the geneticists as this time. 

My purpose in this path was to do what we needed to make sure that we were not overlooking anything that we might have missed or anything that we might need to prepare ourselves for in his future that I was currently not aware of.  The key to doing our best for him has been early intervention.  I was hoping we would find a syndrome more well known with support, walks, research, anything.  Instead, I have learned that less than 200 people in the world are diagnosed with this syndrome.  It has only been defined since 1972.  So we went from rare to even more rare.

As the information was swimming in my fog, we went to the van and opened the door to find my keys sitting there.  Thank goodness I had not locked the van this time.  I also saw laying next to my keys a large jar of peanut butter.  I had purchased said peanut butter about a week ago.  I paid $5.19 plus tax for that peanut butter along with some other items while shopping with my three boys.  I was so frazzled that when we got home I could not locate the peanut butter. I made everyone search for the peanut butter and it was no where to be found.  I just knew I had left it at the store.  I checked my receipt and I had paid for it.  But I smiled today as I saw that peanut butter laying on the floor.  I believe now that God was waiting for the right moment to show me he was with me all the time.

I do wish there was a way to 'fix' it, but there isn't.  As a mother to Thomas, I feel as though I will instead be thankful for all that I have been given and all that is left to receive from him.  I will intervene when necessary and step back accordingly.  I know that God created him and placed him in my care as a precious gift and as a gift to you.  But I will honestly admit, that as his mother I will also always be holding my breath with each milestone and each appointment with prayers that pain and change will not harm my son.

Matthew 18:10 “See that you do not despise one of these little ones. For I tell you that in heaven their angels always see the face of my Father who is in heaven.

Check Up with Neurosurgeon

Its always such a shock away from our normal routine when I have to shift things to allow for big appointments such as the one we had today.  Changing and moving things around to make it work for all and the nerves and stress that rise in me as my mind begins racing.  When we are going along without these appointments we seem almost 'normal'.  I use that word very loosely! I normally take things a week at a time, so since Monday my mind, body and spirit has shift to thinking about the appointment.  Praying for wisdom for the doctors and technicians, praying for my son and for myself and of course asking others for prayers as well.  I am continually fighting to ground myself in my Faith and rely on God, its all already there and with him yet the mom in me can't help but be concerned about if our near future is going to change or shift or do we have more time.  That's is basically how I think about it.  There is always the chance of a real miracle that there will never be any major issues in his life, but honestly I don't feel that is realistic given the cards we have been dealt.  Good news, I survived and so did Thomas.

Today was overall a good appointment.  The initial weight wasn't bad but then they wanted his blood pressure and that was the first thing that upset him.  So it was a little high since he was quite upset and they had to hold him.  Then I had to pin him down in an attempt to get his height.  It doesn't seem like either has changed much since our last pediatric appointment in October.  He is still wearing 18 month clothes.

They took x-rays of his neck with extensions.  I swear it is extremely painful for him, not just uncomfortable as it would be for us.  When Thomas eats, gets upset, etc. his shoulders go up.  We don't know why but they do.  He was so distraught as he was pinned down on that cold hard table that they were tight and really up.  He was screaming so hard that not a sound was coming out of his mouth.  The technician is almost yelling at me to pull harder and to get his shoulders out of the shot so that they can get his neck.  UGH!!  I wanted to scream, or cry or just yank my baby and leave.  But, nonetheless, I tried my best to pull my baby's arms and shoulders down while he screamed and fought me.  We had three sets to do like this.  I am not sure who was relieved more when they said they were good enough, him or me.

The doctor came in and did an external check of his back, I will get back to that in a minute and told me that his neck had not changed since the last time in August.  There is still good movement between the two vertebrae in his neck that aren't fused and it has not increased or began to slide.  So his spinal cord is still safe.  *sigh*  He said the fact that he is little and not growing much has helped from not putting more pressure or strain on the growth of his neck or spine.  So, we are stable and are to come back in six months to do this again.

As for his back, well, I requested that he do x-rays of his back to check up on his scoliosis and kyphosis.  The NP did an external check of his spine and the dr did as well.  He suggested we not subject him to more x-rays today that if he had scoliosis it was minor.  OK, so here is my mommy vent!!!!  He has it!  Last March it was at 27 degrees and he showed no kyphosis, now almost a year later he definitely shows kyphosis and the PT suggested another round of x-rays.  The neurosurgeon focuses on his neck and the orthopedic surgeon focuses on his back.  I don't understand why they can't do the same damn thing!!!!!  So, we are do for our follow up with the ortho in February anyway so I suppose that is when we will get the update on his back.  I am also debating on going back to the Shriner hospital for an update but I don't want to duplicate what we are already doing.  I am not sure if I should have pushed more today or not.  My resolution is that once I do have updated x-rays of his back I will send a copy to the neurosurgeon for his records.  If anything is there of concern, at least he will be aware.

My sweet, sweet Thomas.  From the day he was born he has really been special.  I love all of my boys so much and in different ways.  It is hard to explain but people are just drawn to Thomas.  When we are out, people can't help but to comment about him or talk to him or high five him.  I was laughing about it with my friend and she mentioned that he has a special purpose on this earth and he is already starting.  I believe it is true!!  Its amazing to me how someone so young can be so powerful in touching others, but he can.  With Christmas just passing, it makes me think of Mary and Jesus.  Not that I think of myself as Mary or Thomas Jesus at all, but the magnitude of what she must have felt as his mother.  I honestly want to share Thomas with all of you as much as I can.  I want you to experience his funny expressions, his little personality and even his defiance that he shows.  There is so much wrapped up in that little body of his.  I always want him to be lifted up and surrounds my love.  I want him to always be positive, think positive and have Faith in our Heavenly Father.  These I feel are the tools he was born with and the tools that he must always be reminded of through his journey with us.

Thomas was worn out on the way home today.  My sweet boy.

James 1:12

Blessed is a man who perseveres under trial; for once he has been approved, he will receive the crown of life, which [the Lord] has promised to those who love Him.

New Year, New Appointments

We had a wonderful Christmas together with family and really felt very blessed.  The boys got a little sick and of course Thomas ended up with a horrible cough and his ear drum burst in one ear.  Luckily with some medicine he was able to recover rather quickly and we weren't on breathing treatments for a long time.  This is HUGE for him since it seems to be the norm rather than the exception. 

Thomas has been really growing in leaps and bounds. . .  just not physically.  He is learning so many of his letters and numbers, colors and shapes, and all of those wonderful things that two year olds learn.  He has become quite the chatter box and likes to talk, A LOT!  Its cute most of the time.

So, this month we have two rather large appointments that I would love to have your prayers and well wishes for.  The first is this Thursday with our appointment at the Spine Care Clinic.  Last visit he was particular interested in the mobility between C3 and C4.  It is really the only place in his neck that is currently not fused and allows him to have mobility.  However, he is concerned that the vertebrae will begin to slide rather than move properly due to the fusion above and blow that area.  We will take more x-rays on Thursday with movement in an attempt to see how the bones are moving.  My prayer is that all is stable and his body is moving in a manner that is healthy to him.

The second appointment this month is January 29th, when we have our follow up appointment with our Geneticists to go over the results of the Exome Sequence study performed by Baylor University.  I never really know what to expect going into these appointments.  The concept idea was to be able to take all of his anomalies and issues into one package and give it a name per se.  Or at least determine a name for what caused this and all of the possible related issues in an effort not to miss anything that could benefit by early intervention.  We shall see what this appointment will reveal in due time. 

That is where we are at this time.  We are still continuing with all of therapies and will be making his follow up appointments with other specialists and his pediatrician in the coming months.  Hard to believe we do this every six months now, but it could be worse.  I am thankful that Thomas is happy and at this point is able to play and do all that he wants to do without restrictions.

Thank you for always thinking, praying and keeping up with us.  It is always felt in my heart and I am so appreciative of you all.