Good news with a sprinkle of not so good news

We had our follow up appointment today with the Orthopedic Surgeon about Thomas' back.  The dr came in an immediately announce he had good news with a sprinkle of not so good news.  Good news is that Thomas' back doesn't show anything that causes a sense of urgency to have surgery at this time.  He concurred with the dr from the Shriner's hospital that everything is stable enough to allow him to continue to grow and try to push off surgery for as long as we possible can.  The dr even went as far as to say he is normal for a kid with this type of bone deformity.   As strange as it sounds, I've never heard anything of Thomas' explained as normal and it was actually comforting to hear.  He could do surgery now and correct the issue to the best of his ability but would have to continue to adjust for growth as he is only 10 years old and is just beginning to have the hormone surges causing large pockets of growth.  So, the long term plan is to wait as long as we can.

What does it all mean? So, it means, he will have to continue to work to manage the pain and learn how to work through it, with it, avoid it when possible, etc.  We will stay the course with physical therapy with a few tweaks based on the drs recommendations.  Our goal is strengthen supporting muscles that will help provide him with the most support.  We will keep him active, moving, playing, and optimizing low impact activities like swimming, etc.  Let his sweet body grow and do it's thing. 

We will follow up in six months with him as well as the Shriner's hospital.  I am so thankful for the amazing doctors who are with my son through this and truly have his best interest at heart. 

I am so thankful for all of the prayers and support, this was a huge relief off of all of us that we are not going into surgery this year.  We are always humbled when we hear from so many of you covering us in prayer and willing to help us. 

Finally, all of you, be like-minded, be sympathetic, love one another, be compassionate and humble. 1 Peter 3:8

The Journey has Changed

As I mentioned in 2018, no updates on the blog is a good thing.  It means we are living life without any major interruptions in Thomas' medical journey.    If you follow Thomas ~ A Journey for Rare Syndromes  on Facebook, you know that our journey has changed quite a bit but I wanted to share in more detail as I always have here on our blog.

Over the last year, maybe year and a half, Thomas' pain has increased from an occasional hurt now and then depending on activity level or movement, to a constant level of pain daily that increases for those same reasons.  It has been quite gradual and we have tried to change different things in his regular routine, met and worked with the school trying to provide more suitable options, etc.  On top of that add some social issues of threats and bullying.  We had a world wind of a year that was not only physical but emotional for Thomas as well.  Thomas also had a significant increase in urination frequency that was alarming.  It started in September and have not seen any relief, but have noticed certain patterns.  Due to these issues we were seen by his pediatrician and am MRI was ordered by his Nuerosurgeon.

We had an appointment with the Orthopedic Surgeon the end of February and he was concerned about what he saw on the x-rays in regards to Thomas' mid/lower back.  This area has hemi vertebrae, scoliosis and kyphosis.  We discussed him starting physical therapy to work on relieving his pain and providing stability to the area.  As instructed we got him evaluated for PT but then coronavirus hit.  So, we got the evaluation and then never heard back from the PT clinic we went too as everything was shut down and we were quarantined at home.  The MRI was also pushed back due to the shutdown.

The blessing of being home is Thomas did find some relief from the severe back pain from not being at school.  At home he has a desk that fits and supports him properly, the school does not have that.  He also did not have to carry a bookbag around, etc.  We learned that the strains of normal daily activity at school was contributing to his pain.  

Fast forward to May, we started Thomas in physical therapy and have been going three times a week.  The goal is to strengthen his core muscles without agitating his back, strength his ankles, calves, hamstrings to increase strength and balance to provide more stability.  Thomas has worked really hard and tries at every session.  It's not easy at all and there are some sessions that has really increased his pain level.  But to us, it is all data.  The more we learn the more we can address the issues.  We also learned about wet heat and how good it is to relieve his pain.  As seen here, Thomas is able to get wet heat at PT that really helps relieve his pain for a long period of time.  

Thomas also had a check up with his cardiologists, he was born with a heart murmur and it had to be checked and cleared before the MRI.  So, we were able to get that done and all was good.  It is still considered a benign, innocent murmur.

Finally, we got the MRI after rescheduling twice.  Once for the coronovirus shutdown and the second time because Thomas broke out in hives from the steroids he was on for the poison ivy.  Fun stuff!

We finally were able to get the MRI completed on Friday, May 21st through Day Surgery at CHOA.  Due to him needing to be sedated and the complications his neck provides for incubation, they felt more comfortable at Day Surgery.  They were absolutely wonderful with him and although it was not something he was happy about, I think we made it through with mild trauma for him.

The neurosurgeon has reviewed the results and shared that the spinal cord is in tact and is not causing the current issues, which is a huge releif.


Our last appointment was on Tuesday with the Shriners Hospital in Greenville, SC.  Thomas went to the Shriner's hospital in 2012, when we were at the beginning phases of Thomas' journey.  They are extremely knowledgeable and thorough when it comes to kids with bones anomalies, pain, etc.   Thomas is sponsored by a local Shriner here in McDonough who is always loving and encouraging to Thomas and our family.    Thomas was seen by the doctor who in 2014 became one of the first surgeons in the nation to use the Magnetic Expansion Control (MAGEC) spinal bracing and distraction system to benefit scoliosis patients. He has special interest in spine deformities includes scoliosis, as well as spondylolisthesis, congenital scoliosis and kyphosis.  He took his time with Thomas and really reviewed where we were and where we are.  He stated that based on the slow change in Thomas' curvature that he wouldn't go in an perform surgery at this time.  From 2012 to 2020, we have seen an increase from 22.4 degrees to 34.6 degrees.  He did state that we should continue with the physical therapy for strength and stability purposes. 

 Unfortunately, we were unable to deliver him the scans from the MRI so he was unable to address the situation at the site of kyphosis.  He did mention that based on the reports of the findings from the MRI that there could be an additional source of pain being generated at that site and could also be causing urination problems depending on the nerves that are being compromised.  He did want us to share follow up xrays and the MRI imaging with him and return in six months.  He also suggested we move on to a urologists for additional testing.
The Shriner Hospital was amazing to both of us and we definitely feel more confident and more informed in where we are and what we can actively be doing to help Thomas.  They also gave him this super soccer ball which helped distract him and entertain during our wait times.

We have our follow up appointment with our Orthopedic Surgeon here in Atlanta on Tuesday, June 30th.  We should know more definite, the results of the MRI and how we will proceed.  We are also going to fight the insurance company to keep him in physical therapy for as much as he needs and will work with his urologists to determine if there is anything going on specifically with his bladder or kidneys.

One last thing I did want to mention, Thomas is in counseling to work through his medical trauma, bullying, etc.  We understand and recognize the importance of mental health and know that this is a long journey for our sweet boy.  We want him to have the skills to be able to handle this the best way possible and through it all find joy and happiness throughout all of his life!

A fun fact, during quarantine Thomas started raising chickens.  He has two bantam Silkies, named Roodle and Noodle. 

"May the God of hope fill you with all joy and peace as you trust in him, so that you may overflow with hope by the power of the Holy Spirit. " Romans 15:13

Rare Disease Day 2018

Today is Rare Disease Day!

We work hard to try to keep Thomas happy and healthy all year long.  Pretty much we are on a set schedule to get checked by all of his specialists on a rotating basis.  There hasn't been much changed which we are extremely thankful for.  We just work on keeping him strong and comfortable.

I apologize if you are coming to my blog often to look for additional information.  The good news is there is nothing really to report.  We see his doctors and we make the best possible decisions for him.

Thomas is now 7 years old and in the 2nd grade! He is doing well for the most part and we are so grateful that God is holding him closely to him all of his days.

Ears - The Final Appointment

Thomas and I made this video 11 months ago. Yesterday, we went to see our ENT for is most likely our final time. Thomas' ears are still working properly and his hearing is all in normal range. He is confident that the inconsistencies in his speech will level out over time and that his hearing will continue to improve as he grows.

We are very blessed and excited!! For we know the other doctors and specialists in Thomas' life will never have the opportunity to release us from their care, but in respect to his ears, our dreams have come true. God has shed his light on us and touched Thomas' hears with his healing hands.

As his mama, I am overjoyed and cautiously optimistic. It is difficult for me to accept that I will no longer worry about his ears. It has been a constant for so long. I don't know his life without thinking about his ears and where his hearing is. I mean, let's get real for a minute, is that even possible as a mom? Especially, when I will never forget the day it became real that my newborn baby could not hear and I physically collapsed to my knees. Such is life as a mom.

Thank you for your continued love and support for Thomas and our family. His is stable and doing well and thriving at his new school. Making lots of friends and winning over his teachers. He's a hot mess most days, but we wouldn't have it any other way.

Video on his Ears January 11, 2017

Psalm 16:8, NLT I know the LORD is always with me. I will not be shaken, for he is right beside me.

Amazing news on Thomas' ears

Today we had our three month follow up with Thomas' ENT.  I really had no expectations going into this appointment because I honestly didn't have an inclination as to where we were.  Last appointment the right ear showed some negative pressure which was effecting his hearing and the left ear still had the tube in place and was open.  The doctor wanted to wait and see.  I was fine with that since he seemed to be compensating well and not experiencing any pain.

So, he initially looked at his ears and asked me what I thought.  I shared with him that I had my concerns but at times its hard to really know if there is an issue with Thomas' hearing or his attitude. Just being honest.  He said the right ear looked good and the left ear the tube looked like it was trying to come out.  We waited forever for audiology.  But it was worth the wait.  The first test showed that both eardrums were working in his ears.  Even the one with the tube.  The tube has moved itself out of the eardrum and the eardrum healed itself and is working.  He then went into the sound booth to play his games.  I couldn't see what was happening only hear the laughter and words of encouragement through the speaker.  I prayed for good results.  The audiologists popped out and said he did great, "he has perfect hearing in both ears."  I think I was in shock, I think I am still in shock now as I type this. 

From there we had to see the doctor again to share this new information and decide how to proceed.  He mentioned pulling that tube out in the office.  A little history here, Thomas has had 4 sets of tubes placed in his ears.  None of these tubes fell out on their own.  If the ear began rejecting it or pushing it out there was granulated tissue on it and around it kind of anchoring into the ear.  The doctor did remove one of these tubes in office and it was quite painful for all of us, especially Thomas.  So, the doctor, remembering this stated that he would not remove the tube today.  Whew!! Thomas and I both sighed a big sigh of relief.  We will go back in three months and check his ears again and if the tube is still there at that time then he will go ahead and remove it.  So please pray that this tube will break all the rules and come out on its own.

To share this great news, Thomas made a video with my help to tell everyone.  We are still just so excited that this could be the end to our ear issues with Thomas.  Being born with hearing loss and going through surgeries, speech therapy, countless appointments, hearing tests, etc.  It has been a long almost 7 years with this sweet boy and his ears.  There isn't anything we can do about his bone structure, his eyes, his muscles tone and the other anomalies, but I always felt like the ears was something that we could do something about.  That's is why I pushed and kept trying new things and even going as far as Cincinnati to the best to get other opinions.  When it is all said and done, we all know that the Father's hand touched our boy and healed his ears.  God gave this wonderful blessing to my boy and we are SO grateful.

Thank you from the bottom of hearts to all of you who have prayed for Thomas and especially for hearing to be restored in his ears. 

Psalms 107:1 O give thanks to the LORD, for he is good: for his mercy endures for ever.

Psalms 118:24 This is the day which the LORD has made; we will rejoice and be glad in it.

Maintenance

Tonight as I am processing the thoughts and events from today and reading other people's hard struggles, the word that comes to mind is maintenance.  We have been on cruise control where our Thomas is concerned and I am thankful for that.  So thankful!!!  Yes, we have had issues to deal with here and there but nothing that we can't keep moving forward with.  Most days I don't carry the burden with me that comes with having a unique child.  Then there are those times when we have to realize that he is different and there are challenges we have to face.  They can be as small as being invited to a Birthday party that he can't go to because it wouldn't be safe or bigger such as being picked on at school for being little.  I find it easier to distract him and make life fun in the midst of the negative, but there are times when I want to sit down with the kids around him and explain his size, explain his limitations and have them love him as he his.  It hurts your heart as a mom.  Lately, I have felt more of a need to build Thomas up against those who could bring him down since I myself can't take on all the other kids.  I knew this day was coming, I know kids are mean, but it is still a touch reality to take in.

Then there is the conversation I had with my oldest son this morning that makes me take time to pause.  He had a permission slip for a scoliosis test at school.  For most, not a big deal, sign it, don't sign it.  But for us, it brought up a whole conversation that I was expecting.  I told him he could have it if he wanted but that our pediatrician always checks him and that Thomas has it.  Then came the questions about Thomas and his spine, etc.  I learned that he had been reading my blog at school and learning about his brother.  That made me take time to pause.  I have always tried to educate our family on Thomas' limitations and why he has them, but had my oldest son gotten old enough that he could really understand more and grasp the actual anatomy of his brother.  He could, he was and he did.  It made him sad and confused.  It was a conversation that needed to be longer than the fifteen minutes I had to drive him to school and the diagram of vertebrae drawn on my sketch pad.

I am thankful for the calm.  Thankful for routine and normalcy.  In a month, Thomas will have his follow up with his Orthopedic surgeon who is becoming more concerned with the condition of Thomas' lower back.  In the past weeks, we have started to have more concern as he complains more about lower back pain his normal daily activities that he never did before.  He started hurting when riding his bike or playing outside doing certain things.  He has stopped trying to do sit ups or other exercises during PE.  We help him with warm baths and oils, massages, but the fact is it is there and it is not normal. 

If you are reading my blog and are on this journey with us, please pray for him to have comfort and healing.  Pray for us to enjoy and be thankful for the time of maintenance that we may grow and learn from these times as much as the hard times.  Pray for understanding and acceptance of our difference among each other and especially among our children.  Thomas is a smart, strong little boy with lots of family and friends to love and support him.  This is a God thing.

       

He caused the storm to be still, So that the waves of the sea were hushed. Then they were glad because they were quiet, So He guided them to their desired haven. Psalm 107:29-30

Update on ears 10/3/16

Thomas and I had the pleasure of meeting with our favorite ENT.  Thomas has been sharing with me some concerns of popping and pressure.  This is typical for Thomas when a tube is not present in his ears.  As you may remember, we removed the right tube about six months ago, April, and instead of immediately replacing with his tubes.  The doctor had hopes that Thomas' ears would have matured and we wouldn't experience the same issues as the first five years of his life.  Unfortunately, the same pattern has begun.  He showed negative pressure at his June appointment.  In August, his right seemed to have stabilized and was looking good.  Then the end of August, the right ear got a severe ear infection that we had to treat with antibiotics.  Looking at Thomas' ear today there was definitely negative pressure in the right ear.  We checked his hearing and his right ear is starting to show signs of hearing loss.  Having said this, the left tube is doing well and is open and clear.  This is huge as it is the longest that a tube has ever stayed in place in Thomas' ears even though the last three sets were 'long term'.

So, what does this mean?  Good question.  Basically, his right ear is showing the same patterns as before and we should expect his hearing loss to continue in that ear as well as the discomfort of negative pressure.  Short term, not a big deal.  Long term, gets to be a very, big deal.  Considering this would be Thomas' 6th surgery and his 5th one on his ears, we have decided to wait.  Wait it out just a little bit longer to try to stretch the time period between surgeries.  To try and reduce the amount of times he will be put under anesthesia in his childhood.    The doctor expressed his concerns on anesthesia on there little bodies and considering Thomas' first surgery was at 4 month old, I am okay with taking those concerns into consideration.

The doctor has given me the authority to call it when I am ready for surgery.  So, if for any reason Thomas' becomes miserable over the next few weeks and months with this ear we will do what is necessary.

Now we will pray and trust.  Pray for his right ear to find a way to stabilize itself with the negative pressure which we are also going to try to help with a nasal allergy spray.  Pray for NO infections.  Pray his left tube continues to be strong and open for allow for good, clear hearing.  As we enter this Fall season, this will be a true test of how his ear will function without the assistance of a tube.  We may be in surgery before Christmas or we might can hold out until sometime next year.  Time will tell.

Thank you to each and everyone of you who love on us, pray for us and always support us. 

"give thanks in all circumstances; for this is God’s will for you in Christ Jesus. "

1 Thessalonians 5:18

Follow up with Duane Syndrome

Good Afternoon All,

I apologize in advance for being a bit slack on updating the blog, but no updates means nothing to worry about.  We had our annual eye appointment with his eye specialists.  Luckily, once again his vision is developing normally and doesn't need any correction at this time.  As for his actual eye movement and placement, they are each complex in their own way.  That was the doctor's words to describe them.  However, if he turns his head to the right five degrees he can straighten both eyes to focus forward.  As long as his eyes continue to compensate in this manner and we don't see any changes we are good to go.  I am so thankful that his eye muscles are strong and working and his brain is smart enough to make them work.  Duane Syndrome is extremely difficult to work with since the nervous system for his eyes developed differently than normal and it would be impossible to determine which nerve operates which function of the eye.  Anything that we would try to do to improve his eye could traumatically ruin any functionality that he has now.  We are also blessed because this syndrome does not seem to affect or bother Thomas at this time.  He uses it to entertain his brothers by making his eye roll around separately than the other. 

Here is the picture I took from our visit.  He is intently watching "101 Dalmatians" while waiting for the doctor.  This is also a picture of the monkey that he is able to use his monkey magic on while at the office.

On a side note, we are headed back to the ENT on Monday.  Thomas has had some issues with his right ear, non tube ear.  Apparently there is a build up of fluid and/or pressure which resulted in a severe ear infection.  We were able to treat with antibiotics from the pediatrician but the ENT called and wants to see the ear for himself.  I will keep you posted on his findings.  We are trying to elongate the time between surgeries for Thomas in his ears as long as we could keep his hearing stable and infections away.  So, prayers for this sweet boys ears are always greatly appreciated.

Jeremiah 29:11 

¹¹ For I know the plans I have for you,” declares the Lord, “plans to prosper you and not to harm you, plans to give you hope and a future.

ENT Follow Up, no surgery yet

Today we had our follow up with the ENT for Thomas.  Our last visit was in mid April when he removed the right ear tube.  That has been a blessing as it was causing Thomas quite a bit of pain as the ear was rejecting it. 

To follow up the left tube is still in place and looking good with no signs of rejection.  This is a huge blessing as that tube has been in place for 18 months without issue.  Praise Jesus!!  As for the right ear that has been two months without a tube, we are seeing the normal pattern for Thomas' ear.  There is a build up of pressure behind the ear drum causing it to be pulled inward.  This is causing some mild hearing loss at this time.  Most children who need tubes are much younger and the cause is a build up of fluid.  Unfortunately with Thomas, there is some fluid but the issue has mainly been the pressure.  We aren't sure on why his ears cannot stabilize the pressure but the solution does change based on cause.

The doctor is suggesting we wait it out a bit longer.  The new game plan is to try and stretch the amount of time between surgeries as much as we can.  Since the left ear is working and can compensate for now, we are going to keep on this path.  We will follow up in three months and see where his hearing is at that point.  Hopefully it will stay within in the mild range and the left ear will continue to stay stable.  If history repeats itself, the right ear will continue to loose hearing.  So, for now, we will continue to enjoy our summer.

Thomas has been able to swim in the water with confidence this summer with his ears, which hasn't always been the case.  We are using a plug for his left ear as too much water does cause him great pain. 

"Be thankful in all circumstances, for this is God's will for you who belong to ... In all things give thanks; for this is the will of God in Christ Jesus concerning you all. ... I will bless the LORD at all times; His praise shall continually be in my mouth." 1 Thes 5:18

Annual Neurosurgeon Appointment 6~16~16

Well, the only reason why I am writing this blog is to have a record of it.  Today Thomas met with our Neurosurgeon and it was quite uneventful.  Yay!!!  He hasn't changed and everything is still the same.  Thomas seems to be winning against the Klippel-Feil Syndrome at the moment.  All of his cervical spine is fused together with movement only between c3 and c4.  That area seems to be holding its own and allowing Thomas to do all that he wants to and is not causing any pain or discomfort besides the regular muscle tightness.  The doctor wants to see us back in two years! What? I know, right?!?  Two years!!  Praise God!

We truly love the doctor even though we don't like the fact that we have to go.  They gave awesome toys for Thomas and his brother today since he did so good with his neck x-rays.  Sorry, no cool pictures to show you of the x-rays, but these guys are part of my whole world!!

And my God will meet all your needs according to the riches of his glory in Christ Jesus. Phil 4:19

Orthopedic update - Spine Summer 2016

Welcome to Summer!!  Thomas has several check ups that are coming up during the summer months. It is nice to have the day to go to the appointments without him missing school but it also means that we ALL get to go.  It seemed to work out fine though, in fact, I think it was extremely beneficial for the brothers to be a part of Thomas' experiences so that they have a better understanding.

After years of x-rays, he has this down pat now.  He still gets a bit nervous and jumpy, but today with his brothers in attendance.  He stood tall for his x-rays and was a champ!!  He knows the drill and is so happy to stand for them and not have to lay down, he hates that!!!!  Here he is being super serious for his test today.

Today was Thomas' check up for his spine.  We changed doctors last year and couldn't be happier.  The office and the doctor are just wonderful with their bedside manner and competence.

First off, the best news is that Thomas has had some growth in the last year and his bones have stayed stable.  He still has great flexibility and is able to move without pain or discomfort.  The doctor again stated that Thomas is to do no contact sports that just being a 'boy' will be enough for his bone structure.  Here was our topics of discussion:

This x-ray is looking straight on at Thomas.  The top portion is some hemi vertebrae.  It may be hard to see here, but it is where the bone is made up of two triangles balanced on top of each other instead of a solid rectangle.


The lower portion gets a little more complicated.  There are more hemi vertebrae like above with kyphosis. 

The good news here is despite the anomalies in his spine, his head lines up over his pelvis.  This is wonderful!!  He has curves in his spine, also known as scoliosis, but in the end his body is balancing itself out and is working for him.

Here is the second topic for today.  If you look at his x-ray from the side view, you can see the area marked with the arrow.  His spine sway far inward where the majority of the anamolies are located.  This is the biggest area of concern.  However, at this time the doctor doesn't feel we should do anything.  He is more on the conservative side of things, which as a mother I appreciate.  He stated that some surgeons would jump right in and correct this area.  But looking at Thomas as a whole, he sees no reason to do surgery at this time.  We will definitely keep a close eye on this area and monitor it and make those decisions as they become necessary.


Today, we are thankful that things are still stable and there hasn't been any unexpected changes or surprises.  We go back in 6 months for another round of x-rays.

Thank you for always supporting sweet Thomas in your thoughts and prayers.  We appreciate you!!





James 1:1-27   "James, a servant of God and of the Lord Jesus Christ, To the twelve tribes in the Dispersion: Greetings. Count it all joy, my brothers, when you meet trials of various kinds, for you know that the testing of your faith produces steadfastness. And let steadfastness have its full effect, that you may be perfect and complete, lacking in nothing. If any of you lacks wisdom, let him ask God, who gives generously to all without reproach, and it will be given him. ... "

Today's ENT Appointment 4-13-16

So, first off, you know the appointment wasn't typical if it warrants it's own blog.  Needless to say, Thomas has been experiencing pain in his right ear for the last couple of months.  We saw the ENT in February and they noticed some granulated tissue growing around the tube in the ear.  The doctor who saw him just gave us a prescription of more drops to tolerate it.  The tube was still working and hearing was still acceptable.

Today, we went as a follow up on this issue as Thomas has still been experiencing pain.  He is a tough cookie for the most part, but this was quite painful.  They examined his ear and stated the granulated tissue was still there and probably the source of his discomforted.  We didn't test hearing but did do the tympanogram to make sure the tubes were open and working.  They passed.  However, upon returning to the office our ENT came in to take a look and decided we should move to the microscope room.  (Where nothing good happens)  The ENT examined his ear put some lidocaine in his ear and we waited.  At this point, I thought he was going to clean it. 

BUT, he instead decided to remove the tube in office.  Thomas has had this procedure in office before and it was extremely traumatic and painful, although last time he wasn't numbed first.  There was also a lot of additional tissue connected to the back side of that smaller tube.  This tube is rather large and luckily didn't have as much on the backside.  Five sets of tubes and this is the first time we have been given one to take home and share.  I think it's rather gross, but Thomas' thinks it is cool.

At this point, he has a hole left in his ear drum and we will have to wait on it to heal.  Once it has healed then we will begin checking his hearing levels to determine if we need to replace with another tube. 

Thomas is doing fine now, but it was very painful and traumatic for him.  He had a rough morning afterwards and we worked hard on distracting him.  A little treat didn't hurt either.


We will pray for healing at this point and no more pain and discomfort.  It would be wonderful if this was the actual end to our journey with tubes, but I have a feeling this is temporary at this point.


Thank you for everyone who always prays and supports us. 





Hebrews 10:23 "Let us hold fast the confession of our hope without wavering, for he who promised is faithful"

Not sure who is more excited at this point!!

First off I must say, I'm sorry that I haven't updated here much lately.  But the best news is there isn't much to tell.  We are going to start up our round of semi-annual checks with all of Thomas' specialists soon, but we have been on monitor mode and doing well.

Having said that, Thomas will be turning six years old in a month and he is a busy, busy little boy.  Lately, he has shared some of his frustration with me that he is unable to do what other normal kids do.  He so badly wants to jump in a jump castle or jump on a trampoline.  He has asked to join sports like soccer and baseball.  The latest is a guy at the gym told him he should do karate.  Thomas and I had the heart to heart talk about his bones and why the doctors want him to refrain from such activities.  Thus far, Thomas has been okay and moves on to the next thing.  But this time he stopped, looked straight at me and told me he was mad that God gave him these bones.  I was absolutely crushed.  I don't blame God for my sweet Thomas, but I certainly don't want him to blame God either. God made him perfect, just the way he should be and I want him to find his own way of embracing that. 

Thus began my extensive research.  How do I make him feel like he belongs and is capable just like everyone else without putting his health at risk?  What 'can' he do that he wants to do?  I asked in the Klippel Feil support groups and I started talking to other people.  The school has done an excellent job of including him while protecting him.  It was emotional for me in that I don't of Thomas as special needs or disabled, but he does have limitations.  I needed to find something in the in between. 

God answered my prayers when I contacted the owner of a local karate gym.  I have known the owner and his family for years and knew that I could share with him Thomas' limitations and he would give me and honest opinion.  I also knew I could trust them with Thomas and that he would be safe and protected.  I was so relieved after receiving that phone call and being able to share with Thomas that in two weeks he will get to try out karate. 

While I know that he will have many life lessons to be learned through this life and there might not always be an answer that he likes.  But at least for this season of his sweet 6 year old life, he can be just like the other boys and try his hand at karate.  Hi-Yah!!

Photo Credit: Stacie Hart

Matthew 21:22 And whatever you ask in prayer, you will receive, if you have faith.”

 

Quick update on ears

We spent this morning with our favorite ENT.  Well, as with everything with Thomas nothing is cut and dry.  I will take this morning as good news as we do not need another surgery at this time!!! Yay!! She had me scared for a minute.  Apparently, his right ear isn't thrilled that the tube is still there and has created a build up of granulated tissue around the tube.  The build up can get so bad that it will clog his tube and create a loss of hearing.  So, we cleaned it up, performed a hearing test and got more drops to try to keep it under control the best we can. 

Good news, he can hear now and we don't need surgery right now!!!

Sailing into 2016, Counting our Blessings

It has been quite a while since I last updated my blog and felt as though I needed to share with you all the latest on our little man.  First of all, I am happy to report that in this instance no news is good news!! Praise be to God!! 

Our little man is trucking along in Kindergarten, doing all the things that Kindergarteners do.  I love our elementary school and all of the teachers and administration.  They have surrounded Thomas with lots of love and support.  He has some limitations set by his 504plan, but Thomas doesn't even notice at this point and that is a good thing. 

Thomas also has started to take piano lessons, after he negotiated with our piano teacher.  He so wanted to do like his brothers and in so many instances I have to say, 'no'.  However, this was one of those times where I could say, 'yes'.  He is so excited and has practiced all week.  It is so silly how us mommies forget things when we aren't in the thick of it but after we signed him up I realized this is good for his fine motor skills and couldn't strengthen his hands.  Take that low tone!!  By the way, his handwriting is coming along nicely and looks better than his older brothers.  Shhhh!

Most of Thomas' appointments are on a yearly check up rotation at this point.  For the first time since he was born, I know where we are with all of his anomalies and we are stable.  We will go back for a hearing check in the coming months to make sure those tubes are still in place and working properly, other than that we will see all of his specialists as the time arrives. 

We are so grateful and blessed to have our energetic, happy Thomas and can enjoy just living life at this moment.  These moments may be rare and we will not take misuse them. 

Continued prayers for his stability and ease of pain.  We praise our Lord for all he has done in Thomas' life and continues to do daily.  Anyone who has the pleasure of meeting Thomas knows that God's light is shining around him and through him.  We always thank God for all of the people he surrounds us with who lift us up in our time of need and don't forget us when we are silent.  Our hope is that we can pray for you and lift you up at all times.

Until next time. . . . God Bless.

God will shake up your world! This shaking is to remove things that are not part of His plan and leave the things that are part of His plan for your life! Hebrews 12: 26–29

Turkey Tacos - Thanksgiving 2015

Christmas 2015- Thomas(5) with his brothers, Tyler(11) and Tanner (8)

and their Baby Sister, Chelsea (2)

Kindergarten Here We Come

Well, here, south of Atlanta school started on Monday.  Thomas was so excited to be riding the school bus like his two older brothers.  I am not sure he realized that the long day of Kindergarten was going to be in between his bus rides, but he has been happy nonetheless.

We will have our 504 plan meeting in three weeks.  This time is given to allow me to get letters from his doctors on what his limitations in a school setting should be and allow the teachers time to observe for themselves.  I have confidence that this will be what is best for Thomas and that all parties involved are genuinely concerned to make school a safe place for our boy.

We love our elementary school!!  It definitely has its benefits to have two older brothers who have been there.  I have grown to know and love the teachers and administration.  I think this will make for an easy transition for Thomas and the school.  He has a fantastic teacher this year and I just know it is going to be wonderful!



I did not  update much this summer as it was busy and fun!! Besides spending lots of time with mommy and brothers.  Thomas did go to Art Camp and had a blast!! He can't wait to do it again next year!






We also had our annual summer trip to Florida.  Thomas did fantastic in the pool this year with swim lessons and even was able to swim with his head under the water.  He didn't quite want to reach his arms out like he should, but I think in time we can get those muscles to loosen and do better.  He was religious about using his ear plugs and we had NO ear issues this whole summer!! What?!?!  I know, thank you God for your healing and blessings upon his ears.




Tomorrow is Klippel Feil Awareness Day!!  Hopefully we can continue to spread the word and through Thomas' story and many others, we can bring more awareness and educate more people as to what it is and how it effects all who have it.  I never mind anyone asking me questions about Thomas or what anomalies he has.  God has sent him here for an amazing purpose with an incredible journey in mind.  We will always do our best for him and for others like him!!

Nuerosurgeon Update ~ July 2015

Summer has been so much fun this year with my boys that these appointments sneak up on me.  Thomas has been having fun playing with his brothers, outside, in the pool, art camp.  Hard to believe in a couple of weeks we will be back at school and Thomas will be in Kindergarten.

Today was our check up with Thomas' Neurosurgeon.  I would say overall it was a normal, great check up.  I do enjoy going to that office they are efficient with your time but so friendly and helpful.  It is just the right combination.  The neurosurgeon is only concerned with Thomas' neck and the Klippel Feil.  We have done x-rays for the last four years keeping and eye on it all.  Today was no different.  Thomas had his flexion x-rays done of his neck and she allowed him to stand and do it which make him a very happy camper.  He prefers to stand than to lay down on that hard table in awkward positions and I don't blame him.  I am so proud that he is old enough to communicate such things and share with the people we work with.

The only thing we discussed was Thomas has had a couple of episodes of pain that spread across the top of his shoulders in his back and down his spine.  The neurosurgeon said that could easily be explained as a muscle spasms and that while unpleasant they are normal for someone with Klippel Feil Syndrome.  He shared some tips and ideas with me on working Thomas' neck muscles to help massage them, etc. to prevent the spasms.  Of course, Tylenol or Motrin can always be administered as well.  If they become more frequent, I should keep a log and can reach them anytime.  If they continue to worsen we can go back to PT to specifically work on neck muscles.  He said Klippel Feil patients naturally have tight muscles, but Thomas' are not as bad as they could be. 



My sweet boy did a great job and I was very proud of him.  Glad to have another appointment done and moving on to enjoy what little bit is left of our summer.  In the midst of all that could be wrong, everything is Good!

Phil 4:4 Rejoice in the Lord always!! Again, I say Rejoice!!

Update - Hearing May 2015

Thomas completed his 5th surgery on his ears in December.  We had a out post op follow up in January and things looked good, which isn't surprising.  Typical Thomas though begins to reject tubes within the first six months and we have pain, lots of gooey drainage, hearing loss, etc.  His surgery was on Dec 11, 2014 with a hearing loss of:

Sept 2014                                   Dec 2014

The goal to be in normal hearing range is in the grey shaded area.  As you can see, he showed some substantial hearing loss in September and then had a rapid decline to December.  He has always had some level of hearing loss even with the tubes, but it was never as bad as it was in December.  We immediately did surgery to replace the tubes that were not working.

January 2015, we had our post op follow up and things looked good.  Here is the hearing results:

January 2015

So, as you can see, we are pretty much in the grey shaded area at all levels but one.  At the time the audiologists explained to me that this is the best it would get for him based on his history.  She explained that the tube sitting in the canal will prevent his ear from correctly processing that lowest tone.  We were happy and just prayed that his tubes would continue to work and his body would be more accepting of these tubes.  The ENT tried a different kind in hopes that this would be the case.

We are set to follow up every six months unless he begins experiencing pain or showing signs of hearing loss again.  We had a follow up appointment yesterday and it was amazing!!  Here is the results of his hearing test yesterday.

May 27, 2015

Do you see what I see?  Yes, he is in all the grey shaded area!!  For the first time in his life, his hearing is awesome!!  I might also mention that he went swimming in a pool and the beach this past weekend and accidentally got water in his ears and there were no tears.  We have been struggling with his ears since the day he was born and last year was definitely one of the worst years we have had with them.  Today, I feel very optimistic that his ears may not be a major concern for a while (maybe a long while). 

Thank you to each and every one of you for all of your prayers and support.  Prayers work! God works!!  God has an amazing plan for Thomas and I can't wait to see it all unfold. 

He also had his annual with our pediatrician the end of last month and all checked out from her perspective.  He currently weighs 34 lbs and is 40.25 inches tall and is progressing well, BMI is still under the average and is good.  We did discuss possibly getting him back into PT due to tightness in his neck and the unevenness of his shoulders. 

Next week, we have his annual appointment with the pediatric ophthalmologists.  He has Duane syndrome, which to a 5 year old, means I can do cool things you can't with my eyes.  We are praying his vision is still good and that he is continuing to compensate well. 

Up on the lists for follow ups, Neurosurgeon, Orthopedics (possibly Shriner Hospital) and Endocrinologists.     

In August, he will begin Kindergarten at the BIG school and he is so excited.  I am excited and nervous as well.  I know he will do well and I have confidence that the school will do all they can to protect as well as educate Thomas to the best of their ability.  It definitely helps that he is the 3rd from my point of view because I have been at their school now for five years and I have come to know and love so many of the teachers and staff.

But Jesus called them to him, saying, “Let the children come to me, and do not hinder them, for to such belongs the kingdom of God. Luke 18:16

No longer alone

My sweet boy was born April 29th, 2010 and I wrote my first blog on here in October 2011.  Months of distress, confusion and doctors led up to that first blog.  Months of tears holding my infant child not knowing how different he was on the inside and what answers we would find as I pushed.  We continued asking questions, researching and doing tests.  It was expensive and exhausting, but I feel confident now that we at least know what his bone structure looks like and have a baseline to compare as he grows and his body begins to change.

We are now on the cusp of Thomas' 5th Birthday.  Wow! Five wonderful years with this ball of energy!  He might have been early, he might have been slightly delayed but as with anything where Thomas is concerned delay means nothing.  It means, I'll catch up and surpass.  Watch me!  He is now an extremely active, talking nonstop, preschooler who is extremely smart and loves trains and the color blue.

When this blog began, I stated time and time again that I had no idea the direction I was going nor the purpose but that I felt like I was being led to write it.  So I did.  I wrote and wrote.  I went to doctors and then I would come home and write my blog collecting my thoughts and processing along the way.  I felt like it was an easy way to share with family and friends the difficult and complex world of uncovering a rare genetic disorder that my son has.  It seemed easier to collect support and prayers by writing it out and sharing it on media outlets.  There was no group of parents to gain support from, there was no foundation (still isn't), no 5ks and there isn't any medical expense help out there for children like Thomas.  Parents like us are on our own.  Or are we?

Well, since writing this blog there have been Facebook groups formed just for people with Klippel Feil Syndrome, just for Parents of kids with Klippel Feil Syndrome, there is a group for Duane Syndrome and more.  We can talk about tests and compare children's abilities and doctors.  It is through these connections that I was able to get Thomas seen by the amazing doctor in Cincinnati.  I still have moms and grandmas who are just finding my blog through their own research and reading my words for the first time.  I get amazing emails and thank yous from those parents searching for hope.  Through my blog, through Thomas' story, through the sharing of information and real life experiences we have given the gift of hope.  We have made connections for life and will always have each other to help navigate us into the future.

There is another mom sitting down at her computer, holding her baby, looking for answers and my prayer to her is that she will find hope and peace.  There are a lot of scary things and terrible possibilities on the Internet, so I do pray that while I am no doctor, no special foundation but a ray of hope for many.

Thomas is a gift from God that was meant to be shared and not kept hidden.

“For I know the thoughts that I think toward you, says the LORD, thoughts of peace and not of evil, to give you a future and a hope.” Jeremiah 29:11

Surgery #5 Done ~ Ears

Today Thomas completed surgery #5.

He has now had four surgeries on his ears beginning when he was only four months old.  Thomas was very aware of what was happening today and why he had to do it.  Last night before bed our pastor called to let us know we were in his prayers.  I was laying down with Thomas to help him go to sleep and he began to cry asking why everyone was praying for him.  He is so tenderhearted and loves to pray, so he understood on his level how much everyone cares and loves him.

This morning relatively calm.  He was quite upset he couldn't have his morning coffee but he understood that it was the rules.  We had the same nurse as last time and even saw one of our physical therapists.  The hospital went very smoothly and we kept his blanket nearby at all times and both mom and dad were with him until we couldn't be.  There is something that melts your heart when I child has a lovey that brings them comfort and love like nothing else.

Surgery was earlier than planned, which was fine with us.  He went back about 10:45 am instead of 11:15am.  This time they did not have to give him an IV or incubate him, they simply gassed him and then woke him up when he was done.  I was SO relieved.  The doctor came in before and after to talk to us.  He ended up cleaning and replacing the tubes in both ears.  The left one was completed block and covered in granulated tissue, blood, etc.  The right one also had a build up of tissue.  He ended up going with a newer tube that is softer than the previous set but is also considered a long term tube.  It looked similar to this, but keep in mind this is under a microscope and looks much larger than its actual size.  They are really very tiny.

 He assured us that we are doing the best that we can do, but that there are no guarantees.  We could quite possibly be back next year doing this again.

He explained that with Thomas' Eustachian tube dysfunction the only solution they have at this time is tubes.  He also explained that his hearing will not be restored immediately, but should increase more each day as the fluid drains from his ears and the additional drops and the swelling goes down.

Thomas was quite weepy after he came back but as the anesthesia wore off he quickly became himself again.  He has only complained about pain a little bit here and there but overall he is doing great.  I am thankful for all of the prayers and support for our little man and am so very thankful that this is past us for now.


Tonight, I share two Bible verses with you that brought me peace as we now wait on God to heal Thomas and restore his healing.


Jeremiah 30:17 "For I will restore health unto you, and I will heal you of your wounds, saith the Lord."


Isaiah 40:31 "But they that wait upon the Lord shall renew their strength; they shall mount up with wings as eagles; they shall run, and not be weary, and they shall walk and not faint."

On behalf of Thomas and our entire family, we thank you more than you know for all of your prayers and support.  God loves you and will cast his blessings upon you.