Syndrome. . . what a word!

Syndrome is really an odd word.  It can be a no big deal or life altering.  Doctors use the word syndrome when trying to define a group of symptoms or features.  Some are more common than others or have gotten more publicity.  Others seem to be made up and pulled out of thin air.  But what does it all mean really?

 Thomas has been definitely diagnosed with Klippel Feil Syndrome (1 in 42,000) and Duane Syndrome (effects less than 200,000 in the United States) both are considered rare.  In addition to these syndromes, Thomas has other unexplained issues that gave him the encompassing possibility of having Wildervanck Syndrome.  This is a triad that combines the eye syndrome, the fusion and bone issues with his hearing loss issues.  We went to a sub specialists geneticists to try and find the answers and get it on paper.   She is extremely expensive and not covered by our insurance even though we continue to appeal.  We discussed it and had decided it would be better to do this type of research now for several reasons.  First was to make sure we used the current technology to get a definite diagnosis to help us not miss anything else that could be wrong with our little man.  When you find one thing after another that didn't develop properly or isn't working it worries you that their are other things that have yet to surface or may go unnoticed.  One diagnosis after another has led to additional testing, which so far has worked to our advantage.  The second reason was that if we could put a name to it that it may help if he needed financial assistance or school support.  Labels are huge in our society and can really help or harm you.  Either way, we wanted to know what we were facing.

We did the initial DNA test and that test basically came back saying that yes he has them all.  That was a wonderful relief but then leads to more questions.  We then made the decision to send Thomas' DNA to Baylor University which is one of two places in the United States that does Exome Sequence study of DNA.  We had to complete a long form of all the abnormalities that Thomas has and they attempt to link those to a change in his DNA.  They have found variants in Thomas' SALL1 gene which may be related to a different syndrome that has not been discussed with us before.  They are currently testing my DNA and my husbands to confirm this diagnosis.  If we carry this change also then we do not have a change in diagnosis.  However, if both of our SALL1 genes do not show this variant then they would give Thomas a new diagnosis of Townes-Brocks Syndrome.  *sigh*  I have already started googling this syndrome and it sure doesn't sound like it is as good as a fit as Wildervanck.  They are both extremely rare and do not get a lot of recognition in the medical field.  Townes-Brocks affects less than 200 people in the world. 

I definitely don't want to say we did all of this for not because I don't think we did.  We have ruled out a lot of potential issues that don't exist with our Thomas, which is a huge relief.  I know the DNA doesn't lie, but I really think in the end we already have our answer and the test will just be our back up for any agency, medical organization, etc. that we may come across on his life journey.

On a lighter note, Thomas has been doing better in PT and I think is building up some endurance.  We have been working hard on his hump back issues to strengthen his core in order to not only help his neck, back and posture but to help his eating as well.  We have started with the kenesio tape on Tuesday and he never mentioned it today.  YAY!! I think he has already gotten use to having it on.  My SIL mentioned out of sight out of mind and in this case I think it worked!!  It provides just enough tension to him that he should want to sit up and stand up straighter which in essence helps to reteach his muscles how to work and to build of strength for those positions.  I am quite excited about it and it isn't as big of a deal as I thought it was going to be. 

Don't want to bring you down, but on my heart tonight is a family who has lost their child tonight.  He had similar issues as Thomas although much more severe.  As a friend of mine stated, a lot of people don't think of scoliosis as a big issue because it is quite common in teenagers and adults and usually causes minor problems.  It is a much different issue when its congenital and you are born with it.  The effects on your body begin immediately and there is almost nothing you can do to stop the growth of the bones and their formation.  Its always tragic when a little one is taken so soon from their mother's arms.  My prayer is that they can sleep peacefully knowing their baby will suffer no more and has been healed by our ultimate Healer in heaven.

I am thankful that we have such a loving Father God to entrust our family with his Thomas.  He is such a blessing to us all.

Thomas getting kisses from his two older brothers.

The Holidays are Upon Us

This holiday season is a little different than last year for me.  I am sitting here looking at my cute little 4 ft tree that I put in our family room this year.  Its perfect for our little room and Thomas has enjoyed taking the ornaments off, unplugging the lights and he even took the star off the top today by climbing on top of a chair.  Pure craziness, but I love it!! I am so happy that my baby can climb on the chair and can reach the star and that he loves the lights.  He is so excited about Christmas this year and keeps talking about Santa coming and bringing him a bicycle.  We actually took him to Toys R Us and had him 'test drive' a 12" bike.  I wanted to see if his feet would reach the pedals.  He is actually still 2 inches too short according the specifications on the bike, but it didn't stop my little powerhouse.  He was able to get those pedals going and drove all over that store.  It was amazing to see him try to pedal that bike and the people would just stop in the aisles and smile as they watched him.  There really is something about that little boy that can't be explained but only experienced.  I am so grateful for where we are right now.

Last year at this time I had just started this blog.  I didn't know what the coming months would bring the diagnoses we would get and the hours of therapy we would conquer.  But here we are!  We did it!  I say we because I really couldn't have done it without you.  Your prayers and support were always with me and were felt. 

Thomas is really doing good.  We are doing PT weekly which is a lot of hard work on him but he is a great worker.  Waiting on insurance and CHOA to work out covering feeding therapy and Endocrinologists referral.  Thomas did get sick over Thanksgiving break and was put on steroids and breathing treatments.  Seems to be the norm for him when he gets sick, he always gets the croup.  It is pitiful but at least we know what we need to do to get him well.  He is now doing good and hopefully be rid of the cough for good in the next couple of days.

Thank you for loving my little man and our family.  Our prayers are with you this holiday season, may you feel blessed and loved right where you are, just as you are.

Psalm 28:7 -The LORD is my strength and my shield; My heart trusts in Him, and I am helped; Therefore my heart exults, And with my song I shall thank Him.

Read more: http://www.whatchristianswanttoknow.com/thanksgiving-bible-verses-15-great-scripture-quotes/#ixzz2DOBHgZ8i

Psalm 28:7 -The LORD is my strength and my shield; My heart trusts in Him, and I am helped; Therefore my heart exults, And with my song I shall thank Him.

Read more: http://www.whatchristianswanttoknow.com/thanksgiving-bible-verses-15-great-scripture-quotes/#ixzz2DOBHgZ8i

 

 

 

 

Psalm 28:7 (NIV)

⁷ The Lord is my strength and my shield;
    my heart trusts in him, and he helps me.
My heart leaps for joy,
    and with my song I praise him.

We are thankful for you!

Latest Update on our Thomas. . . God is Good

I promised you a medical update in my last blog and I haven't done it yet.  I am sorry.  I have been going, going, going and by this time of night I am exhausted. 

Thomas had his 2.5 year check up and did great.  Everything looks good, he did gain a little weight back from what he was down and had gained some inches.  He is finally up to 33 inches from the 31.5 inches he has been at for months and months.  His weight is back to 23 lbs which isn't bad but still lower then where he should be for his curve.  The pediatrician still thinks it wouldn't hurt to send him to an Endocrinologist just to make sure they don't have any reason for concern.  It seems as though short stature is just a trait of having Klippel Feil Syndrome, but we also want to make sure there is no additional development issues that may be overlooked or an issue with growth hormones.  We are waiting on that referral now.

At the pediatrician's concern, we made an appointment with the ENT as she could not locate his left tube and didn't want to be responsible for accidentally removing it in the search.  We went to the ENT and we was able to clean his ear through the microscope and was able to locate the tube.  He said they should make it another six months. 

We have continued with our physical therapy and its been a lot of hard work on our little man.  His trunk is quite weak and his posture is not well due to the kythosis.  We have been going weekly working on his core abdominal muscles and his back.  Its a lot of hard work and he definitely fatigues quicker than he was with the other sessions.  Today he did great with his sit ups, but his posture is still quite lax when not working.  Her suggestion was to try the kinesio tape.  She has put a small sample on his back for us to test to see if his skin reacts to it.  I am to leave it on until Sunday unless I see a reason before then.  Luckily, its on his back and he has already forgotten it is there.  We go back on Tuesday and if all goes well she is going to put two to three strips down his back.  This tape is quite interesting and unlike anything I have seen before.  I saw some people in the Olympics wearing such tape but really didn't understand the reason.  She explained the way the tape moves with the body and expands with the skin.  It was extremely interesting.  In Thomas' case, she is wanting to use it down the length of his back.  The idea is when he is resting and his back slumps over the tape will go with him but he will feel it and remind him to pull himself back up with good posture.  Its like a retraining of how to stand and sit with good posture for him.  His muscles are getting stronger but somehow we need to mentally trigger him to sit and stand taller.  Hopefully he will begin to do this and will not fatigue.  Our overall goal has always been to protect his spine and do all we can to build his body strong around all of the abnormal bones.  We can prevent the shape of the bones, the curvature of the bones or the way they move as they grow.  So, the only other option is to strength his body around the bones and do all we can to help support it.  We have always paid close attention to his posture, orthopedics for his feet, etc.  Hopefully, this tape will work effectively for Thomas and give us another advantage for him.

The PT also helps with the feeding issues we have had.  Since he has bad posture when he eats, it makes it more difficult for him to line his throat and stomach correctly to eat and swallow for long periods of time.  Long periods of time meaning more than ten minutes in two year old land.  I checked again though on us getting feeding therapy and they are still having to look into the diagnostic code that the insurance company will pay for.  *sighs*  It is still amazing to me how much power the insurance companies hold.

As this year is coming to a close, I can't help but reflect on where we are and how far we have come.  I am so proud of my sweet Thomas and how much he has grown and changed since the beginning of this year.  I feel so blessed to have the team at Children's Healthcare of Atlanta and their wonderful therapist who have really worked with Thomas this last year and made great strides.  I am thankful for his doctors and specialists who continue to monitor him and work hard at being proactive.  We really are blessed to have come so far this year.  We have also spent thousands in his medical care this year alone and we have not only been able to stay current with our medical bills this year but have a small cushion in his medical account for 2013.  I am so humbled to have had so many people reach out to us this year and support us with their prayers, support and donations.  The fear of January coming and the insurance starting over again is real, but I trust that as he has in the past that God shall supply our every need. 

Becoming a mom the first time changed my life dramatically.  Becoming a mother of two challenged me and made me grow as a better person.  Becoming the mother to someone like Thomas has taken me to places I never knew existed.  I could list all of his diagnosis and all of the doctors we have seen this year, but all I can think of is how darn cute he is and how he steals the hearts of every person who sees him.  I think of how my relationship with our heavenly Father has changed over my life and most specially in the last twelve months.  My church became even more of a family to me than they had before because I was willing to open myself up and ask for their prayers and help.  I truly think that raising three boys, raising Thomas, is much bigger than me, he deserves a village to bring him into this world with true faith in our Lord and an optimistic view and attitude to overcome any physical challenges that may arise in his lifetime.  Thomas has changed the person who I was and the way I viewed many things.  My life priorities have shifted and many things have become more trivial and less necessary than before.  Its a good thing.  God is good.  God is always in control and his plan is so much better than anything I could have planned myself.

Everything is better when you smile.

I'll never forget. . .

Once again we have had another week of information and a flood of emotions.  It has been an extremely busy week with Halloween and other activities, but my heart has been full.  As I laid in bed the other night attempting sleep the thought crossed my mind:

I will never forget when truly decided I was ready to have a third child.

I will never forget the September day the test showed positive for the pregnancy.

I will never forget the early December day when I saw you were going to be a baby boy and your name came to me.

I will never forget watching your brothers fall in love with you in amazement while you were still growing inside me.

I will never forget the Wednesday night I came home from church and my water broke.

I will never forget the Thursday morning when your heart was dropping too low during labor and the concern rose greatly for me and the nurses.

I will never forget when my itty bitty 5 lb boy decided to be in my arms for the first time.

I will never forget trying to pass the car seat test with you so we could take you home.

I will never forget the fear that struck me when you failed your hearing tests.

I will never forget the devastation I felt when we learned your hearing loss was real and not just birthing fluid in the ears.  I walked into my friends house and crumbled.  It was the first taste of what it was going to be like to have a child who had disabilities.

I will never forget carrying you to be baptized with our family and our church family. 

I will never forget you getting sick your first Christmas and our first glimpse of your spine and the scare we had.

I will never forget learning about your eyes and the Duane Syndrome that you will always have.

I will never forget walking in front of our church presenting you to everyone asking for them to lay their hands on you with prayer and healing hoping beyond hope for good answers from your tests.

I will never forget January 9th, getting the confirmation that you had Klippel Feil Syndrome.

I will never forget how once again my relationship with God was shaken and rebuilt as if a mighty earthquake had broken my soul wide open for only our Lord to come in and repair.

Having a blog on the Internet makes me very vulnerable and allows you to hear and see me for who I am.  Its easier to see my cracks and flaws that we often try to hide in public.  I am thankful for it though as it has done so much good for not only myself to share Thomas' story with you but to help others as well.  We have been able to find doctors and information that we normally wouldn't have found.  People have come to know Thomas and me through our blog and have embraced us with a special type of love.  We have had continued support from outsiders, our church family and our friends and loved ones.  I couldn't ask for more.

And Thomas, well, Thomas is a two and half year old toddler who doesn't have a clue that there is one thing wrong with him.  He talks, jumps, plays, and throws a fit just like any other 2 year old.  He dressed up for Halloween and was so excited that people were willing to just give him candy.  He loves going to school and church to play with his little friends.  He is counting numbers, knows his colors and learning his letters.  He sings when you aren't looking and giggles when you do.  He wraps his arms around my leg and gives me tight squeezes.  His disabilities are invisible to most and cannot be comprehended by many and as a mother this breaks my heart for him.  I don't think of Thomas has being a Disabled child or a Special Needs Child, but the truth is he does have disabilities that are true and are and will always be a factor in his life.  I will and always will be Mama Bear who will watch out for her cub.

Tonight my heart needed to write this blog, I will update you soon with all the latest medical mumbo jumbo.

 

                  Proverbs 3:1-6

3 My son, do not forget my teaching,
    but keep my commands in your heart,
² for they will prolong your life many years
    and bring you peace and prosperity.

³ Let love and faithfulness never leave you;
    bind them around your neck,
    write them on the tablet of your heart.
⁴ Then you will win favor and a good name
    in the sight of God and man.

⁵ Trust in the Lord with all your heart
    and lean not on your own understanding;
⁶ in all your ways submit to him,
    and he will make your paths straight

Things are picking up a bit

I am so thankful and so happy in this moment.  Thomas has brought such joy to my life.  It is a pleasure to take him with me places and see other people be drawn to him with a smile.  As my friend has said, there is just something about him.  He is so stinking cute and has such a personality about him, yet he is very content and low maintenance from a child standpoint.  He has no idea he is different any way and no one treats him so.  I love all of my boys so deeply, each one of them holding a special place in my heart and sharing such rich qualities.  The bonds we are building are those for a lifetime.

James 1:17 "Every good gift and every perfect gift is from above"

  

It was a nice break but the therapist want to work on Thomas in an effort to help him function better in regards to his core.  His core is quite weak and it shows mostly when its time to sit and eat.  His body is working so hard to compensate for its weakness that he fatigues quickly and leaves meal time.  He also finds alternate ways to play and is usually leaning or propping against something for support.  We had our PT appointment today as suggested by our ST/Feeding therapist.  We focused a lot on his core which includes his stomach and back.  She showed me lots of alternate ways for me to work with him on strengthening those muscles. He had a tough workout today and was so tired when we were done.  A lot of the exercises I should be doing as well. So, we will focus on that for a while.  We will be going to PT every week until he begins to show some real improvement.  We should also start with the feeding therapist soon as well, still waiting on insurance to say 'go ahead'.  Fun!!

We have our 2.5 year check up next week with our pediatrician.  We have a few minor things I know we need to discuss but other than that I think we are doing good.

Thank you always, for your continued love, prayers and support.  I would not be as content as I am today with our past, present and possible future if it weren't for you.

We all thank  you.

Enjoying the Moment.

Right now, this moment.  It's nice.  Our therapy has been cut back since he is doing so well in OT and PT and we are waiting on insurance to begin the feeding therapy.  We are all caught up with our appointments until the end of this month when Thomas will have his two and half year check up.  So, right now I am breathing.  I am able to give my attention to the other boys just a little bit more and let Thomas run and play and just be.  We do all we can to keep things 'normal' around here.  It is much easier to do when our schedule is less hectic.  I also must mention that Tyler is doing well also.  We have changed his medicine, had him in occupational therapy and behavior therapy and together its working.  He is more peaceful and happy
and doing great!

Thomas is doing phenomenal and wins the hearts of all who meet him!  I am so proud of him and all that he has already overcome.  My continual prayer is that this will always be the case!  

Refocus.  I am planning on focusing in me a little bit during this lull.  Get myself back together per se because who knows how long this moment will last.  I am reworking some Bible Studies that I felt needed to speak to me a little more.  Reviewing our finances and updating our budget.  Refinancing the house.  Refocusing. 

Let Go.  I am giving myself a break and letting go of some things that I have found not to be as important.  Some things I have let go were big and were hard and made me very sad.  Some things are small and don't seem like much but add up quickly.  Through this I am finding that even through that sadness it has been the right choice for me.  I want to live and enjoy my boys and my life not just survive.  Through these things God is teaching me if I am willing to listen.

Pick myself back up.  My writing isn't as good as it use to be because I am not reading like I once was.  I am not working out like I once was.  Luckily, I just had a complete physical and everything came back great.  I am lucky that I still healthy and doing well right now.  Seems like most of the time I am barely hanging on.  But I want to do better. . better for me and better for my family.  Back to reading, back to eating healthy, back to working out and back to a little me time.


The only thing left on my to do list that I continue to put off is getting a courtesy draw for Robert and I for Baylor University and Madison, WI.  I know this NEEDS to get done but everyone keeps telling me 'no'.  So, I have to stop and take a break and then go at it again.

Kind of random tonight, but I feel at peace and enjoyed watching all three boys tonight play outside at the soccer fields.  We have come a long way in the past months and I am so happy and so proud of my family.

“From the fullness of his grace we have all received one blessing after another.” John 1:16 (NIV)

Always learning. . .

Its been a while since I have written an updated and I have been digesting the latest developments, so I felt it was a good time to share.

First, we did have our appointment last week with our ENT.  I really like his demeanor and attitude.  Instead of us going through another hearing test, he checked the tubes and informed me that the left one is probably not working well and the right one is fine.  We will just watch them this winter knowing they are going to fall out.  Once they are out we will replace them with new ones.  If he were a normal child, we would not put in new tubes so quickly and just watch the fluid levels for a couple of months.  But fluid levels is not he issue with Thomas so that is not a solution and I am so glad that the ENT and me both agree on this issue.  The ENT does not want him to experience any hearing imbalance which is what he has had since birth if the tubes are not in.  So YAY that we have a doctor who gets it, and YAY we have a solution that works at this time.

Once Thomas is a little bit bigger and a little bit older we will look further into his ears to determine the cause of his hearing imbalance.  It is common with children with low tone for their eustation tubes not to work properly and never will on their own. Its also possible that something just didn't develop properly as with many things in Thomas' little body.  Either way, if tubes are the permanent solution, we will look into placing in permanent tubes.  I never knew there was such a thing but there is.  They are a T shape instead of the standard tube so they won't come out.  What is most comforting to me about all of this is this was my first devastating blow when Thomas was first born was that he failed all his hearing test.  My baby couldn't hear me!  Both my husband and I grieved over the thought but then quickly decided it wasn't the end of the world and while we weren't happy we would make the best of it.  So many other things could be wrong and if it was just his hearing then that would be doable.  So, here we are almost two and half years later and hearing is low on our list or worries and is now in fact something that can be completely prevented with the technology we have today.  He has more than made up for the months that he couldn't hear and is thriving.

Onto our new journey. . .we had a feeding evaluation on Tuesday with a therapist.  I really wasn't sure what to expect.  I thought they would look at his mouth and the way he eats to see if the low tone was effecting his muscles in his mouth in a way that limits his eating abilities.  The speech therapist in the past have discussed cheek rubbing, gum stimulation, lip massage, working with his tongue, etc.  All things that I have paid attention too and worked with Thomas occasionally.  To my surprise, he did great with all of those things at the evaluation and that is not his issue.  He does have an issue though and that is what I love about going to a well educated, experienced therapist who knows what to look for and how we can improve.

Eating is so much more than just putting food in your mouth, chewing and swallowing.  Although, those things alone are a lot of work and takes a lot to happen that we don't just think about.  Unless, of course, you have a baby or toddler who has difficulty eating.  Thomas breastfed great and ate well as a baby.  We had no issues that I was aware of and seemed to stay on his own personal growth chart fine.  As he moved into the toddler eating/walking phase there was a dip in weight which is normal as they learn to burn more calories before they catch up with their eating.  Thomas has since then stopped gaining weight and stopped growing in height.  Why?  We don't know.  However, we do know that the dips in his weight are directly related to his caloric intake.  He is not eating enough calories during his eating sessions.  We can supplement with Pediasure and Whole milk, but that isn't the long term answer. We need to address his way of eating so that he can eat comfortably without fatigue.

Thomas' issue is that his core is quite low tone and he is unable to sit upright for long periods of time without support.  Its not extremely noticeable, unless you are looking.  We have noticed that he chooses certain positions over others and often finds way to prop or lean.  When eating, you must have good alignment from your core up to your head in order to allow food to travel properly.  Thomas will sit up for a while but then he will begin to lean over or slide down in his seat.  His body shows fatigue and he gets down.  He also seems to lift his shoulders up when he swallows.  This is why he prefers smooth easy to swallow foods because they can go down so quickly without much effort.  We are going to work towards providing his body the maximum amount of support so that all he has to work on is eating.

Four Main Points:
Stability: your baby’s body should be stable when feeding.
Alignment: the head, neck and body should be lined up / aligned.
Flexed: the body should be in a slightly flexed or ‘curled up’ position.
Comfort: being comfortable is vital

This may proove to be easier in some settings rather than others.  For snack he can walk around or sit in different positions.  The most challenging is when we have family dinner or go out somewhere else.  He currently still sits in a booster seat at home but even that does not provide him enough support that his body isn't working.  I did get her big fat stamp of approval for his feeding schedule and foods that I offer and he eats.

Once the insurance company gets the evaluation and give their stamp of approval, we will begin going to feeding therapy once a week for at least three months.  Together we will work with Thomas and find the best ways for him to eat properly and get the most out of his time at the table.  We are also going to increase his PT visits again to tackle his core and see if we can increase his strength.  We are already focusing on muscle endurance from our last appointment.  Thomas will only walk for so long and then his muscles start showing fatigue and he wants to be carried or ride etc.  As a two year old you expect there still to be some carrying and toting, but Thomas clearly shows quicker fatigue for his age.  Good thing we have a PT for that!

 I wanted to share 1 Corinthians 10:13. You know the one that says God won’t give you more than you can bear … But wait a minute, that’s not really what the Bible says. It says you won’t be tempted beyond what you can bear. In life, you will go through situations that are more than you can bear alone. It’s only in those times that we realize our full dependency on God.

It does not imply that God won’t let you be stressed beyond what you can bear.
Or challenged beyond your ability.
Or pushed beyond your threshold.In reality, God gives you more than you can bear all the time. On purpose.
It’s only when you can’t bear the load that the strength of Christ kicks in…
and He becomes everything you need and more.

An adult with KFS ~ Rosie's Story

A couple of months back when I first got the actual diagnosis of Klippel Feil Syndrome for my sweet son, my fingers started burning up the keys on my laptop.  I was searching and googling for others who had it, sites that explained it in a way I could understand and relate it to my little man.  What did the doctors know?  What were they not telling me?  What are our options?  While some of these questions still have not been answered, I have met some amazing incredible people through the process.  There are several who have been very near and dear to my heart.  I could write a special post on each of them.

Tonight I want to share with you Rosie (Sharon Rose). Here is a picture of her with one of her babies, Maggs. 

As a 41-year old patient with the congenital rare disease Klippel-Feil Syndrome (KFS), pain is a normal part of every moment, every day.  Because everyone with this disease has different portions of their cervical spine (neck) fused together, we have different symptoms.
I was not diagnosed until the age of thirty-eight; yet, after having several knee surgeries as a child, due to deformed knee joints, the diagnosis made sense to me. I was told by my orthopedic specialist,  ”KFS is not the diagnosis you want.”

"I thought, eh, we can figure this out. In our day and age, where we have access to treatments, ways of fixing things, and most assuredly there would be ways to alleviate pain, I will eventually get back to normal."

I was wrong. After seeing countless Neurologists and Neurosurgeons, and overnight stays in the hospital for pain, the only advocate I currently have maintained by my side, is a board certified Headache Doctor. I take medications for nerve pain, but the pain persists throughout my upper body, as well as other neurological symptoms that make every day a roller coaster.

Like many of us with KFS, I have exhausted all research outlets on-line and attend my physician appointments, organized and ready to advocate on my behalf. But most times, my research efforts come up empty. In addition to the Facebook Klippel-Feil Syndrome group, I co-lead a KFS group on MDJunction. In the past months, many patients and families have continued to bring up ideas surrounding the need for more research, lack of and need for additional, available treatments.

This congenital disease affects people of all ages. We are unknown, and we suffer.


Currently, Rosie has finally found a doctor who is willing to do the test and do something about what is going on.  She has been to many, many doctors who are basically at a loss.  Currently they have discovered that her C1 is not connected to skull..but its not connected to itself either! It formed as two pieces so it is separating which is causing the constant head pain.C1 is the ring that helps rotate your head. Unstable. The doctor has currently put Rosie in a neck brace in an effort to pick her skull up and relieve the pressure off of the unstable C1.  She will be in this for at least 6 weeks to see how she progresses.  Surgery has not been discussed yet, but I don't think it is ever out of the picture.  In other KFS news they found on the scans that she has several nodules on her thyroid, so she will be moving forward on discovering what those might be and what they can do to heal.

Despite battling her illness, Sharon Rose launched the Klippel Feil Syndrome Alliance on Facebook last month in June. Patients and families dealing with KFS have not had a central place to refer to on a nationwide basis – now they do with the KFS Alliance.  They are currently working on becoming an official non profit organization.  One day there will be awareness, walks and fundraisers for our cause and help people like Rosie and Thomas.

A few KFS patients, families and friends, including two moms in the medical field, have worked together to initiate the Klippel-Feil Syndrome Alliance with non-profit status.

We are just beginning. We are aligning ourselves and gathering patients and families. Many have stepped forward who have similar stories. We are all in this together, with hopes of becoming more recognized within the medical community as well as in the general public.

Funding and research is critical. The Klippel-Feil Syndrome Alliance is focused on research and improving the care and treatment of KFS from birth through adulthood. Alliance is key.

Please take a moment to ‘like’ us on Facebook, or follow us on Twitter, @KFSalliance .

People like Rosie have really brought a lot of peace, love and joy into my life.  They have embraced my journey and Thomas in a very special way.  While its not a journey I chose to be on, I am eternally grateful for dear friends like Rosie.  By sharing our stories and experiences we can help each other and direct to and away doctors that may not provide the necessary support that a patient with KFS needs.  Again, only 1 in 42,000 are diagnosed with Klippel Feil each year so the odds are against us from the beginning.  Please add my dear friend Rosie to your prayers tonight.  She is doing a great job of holding her head up high, but she has suffered for a long time and that weighs heavily on you.  And now she is in a place where answers may be on the horizon for some relief.  

I love you Rosie!!

Is it me?

Okay, so here we are 9 months after the official diagnosis of Klippel Feil Syndrome and I have yet to move forward with the Medicaid Deeming Waiver application.  It is completely overwhelming and emotionally draining.  I have such a hard time trying to write about Thomas' issues and making them sound completely horrible and in the worst case scenario.  The truth is he is doing great!! He is doing such a great job but I know for a fact we wouldn't be where we are right now had it not been for the dedicated therapist who have worked countless hours with Thomas and us working with him at home on a constant basis.  Thomas has great drive and determination and it shows in everything he does and tries to do.  Again, the only thing that I can foresee slowing him down is if the bones in his back do not continue to line up and provide stability for his body and protect his spinal cord. 

I have recently started asking questions about the Deeming Waiver again on a Special Needs of GA support group.  They are phenomenal local parents who have been there and done that.  They had so much love and understanding for me that it made me cry.  They understand how overwhelming it feels to go down to DFACS with your child and wait with all of the other people their with their children. Only they are their for food stamps and help for their families that they can get nowhere else.  You feel as though you don't belong.  You feel like you are trying to take funds away from someone else who needs it more or deserves it more than you do.  I have help, I have people who are willing to support me and help me in any way that we need.  We are not drowning right now because of their love.  Not everyone has that and they have to stay and wait and ask for that help.

Then I see the pictures and read the stories of others and their precious babies and it doesn't even compare.  They need so more than we do.  Thomas is functional and has already overcome so many obstacles in his little life and I really don't see that slowing down anytime soon, again if his bones cooperate.  Then I think how can I make sure that Thomas will continue on this path, its been early intervention medically, its been my perseverance to find the answers and understand what was going on in his little body and what we can do, it was me pushing for evaluations, for therapy, for diagnosis.  Why would this be any different?  It is clear that those with the financial means get the better quality of care and better attention.  I only want the best for Thomas and my entire family and if that means completing this damn application and telling them the worse case scenario then that is what I must do.  I don't have to like it and I don't have to enjoy it.  I need to quit second guessing whether or not its the right thing to do, if its necessary, if, what if. . . I need to leave it to God.  IF we are meant to have help through this system it will be provided.  IF we are not then the care for Thomas will come from another source.  I think I just needed to write this to help me process my thoughts and feel good about what I am doing in my heart. 

Pray for me as I complete the application and the process.  It takes a lot of time, a lot of leg work to get documents from the doctors and most of all it takes me sharing the ugly with an agency that I don't know and have no idea what kind of person will be processing it.  I have already had to fight the insurance agency before and failed even with the letters and documentation to back it up.  Sometimes I just think his condition is too rare and not understood that it is just easier to let it go then to deal with it.

This mama is going to suck it up. . . . for him!

Update on the Spine ~ 9-10-12

Today was our follow up with Thomas' Pediatric Orthopedic Surgeon.  First, if he wasn't the best I would replace him. He is highly qualified and is recommended even from my contacts at Boston Children's Hospital.  It may be that I am not knowledgeable enough but he is a very in the box type of doctor to me and only focuses on Thomas' spine.  He barely seems interested in the Klippel Feil.  Today he did test his neck motion and range but no additional x-rays were done on the area.  I am thankful that I have pursued a NueroSurgeon for Thomas who does focus primarily on his neck and the fused bone are. 

We did have x-rays of Thomas' spine today from the bottom of his neck down.  The newest development is Kyphosis in his lower back on the right side.  Thomas' physical therapist was the first to notice a small knot of muscle forming due to the curvature in his back.  It has gotten larger and quite noticeable.  Thomas' occupational therapist also noticed that Thomas has a difficult time sitting on the floor without support.  In essence most kids have incredible posture, yet Thomas seems to have to hunch over.  This is all coming together now as the kyphosis.  

Our Orthopedic Surgeon seemed pleased with Thomas' spine in that it is stable.  While again his spine is made up of complex triangular shapes in the lumbar and thoaric, his scolliosis has not worsened and the angel is still under the need for intervention.  Thomas' spine has the complex triangular shapes and as long as they continue to balance each other out and protect the spinal cord we are stable.

My husband and I had a long discussion tonight about where we are what we need to do at this time with Thomas.  The end of the year is coming and we are almost done with all of our follow ups for this round.  We both agreed that we need to work with the PT on the kyphosis and see what our options are on improving his posture and core strength the best we can despite what his bones are doing from the inside.  We are also going to follow up with the NueroSurgeon for a MRI on his complete spine including cervical.  We both agree that Thomas has a high tolerance for pain and probably has been in some level of pain since birth.  We want to control that pain the best we can so that it does not go beyond his comfortable threshold.  I feel like the best way to do this is the continue with therapy in such a way that his muscles are strong and help compensate as well as orthopedics in his shoes to aid in support and posture. 

We also discussed our medical finances in retrospect and predicting the future.  We have decided that approved or declined Katie Beckett is worth a shot.  I have recently learned that if you are indeed denied for Katie Beckett that their are additional options through the Easter Seals.  I never knew!!  Its so difficult to find and get information about programs and options.  But I am glad that I am getting the information.  We would not be where we are today if had not been for our family and friends providing financial support to us over the last 9 months.  We are still so humbled and so grateful for every dollar you have invested for our son.

We still have our ENT appointment coming up the end of this month. But we are not concerned with his ears or hearing at this time.  This last set of tubes are hanging in their better than his first set and he is hearing great!!  Such a relief after months and months of him not being able to hear.

We have his feeding evaluation the beginning of October, which should be interesting.  We are also going to pursue Thomas being seen by an Endocrinologists.  We definitely have enough evidence to need a specialists to perform some additional testing in regards to his bone age and size.  While we enjoy him being little, its not just the size that is reason for concern but development regulated by his pituitary gland. 

*sighs*  I feel good having a plan in place for my son and knowing that we do have a good team of therapist and doctors willing to do what needs to be done.  I would by lying if I didn't admit that I still get angry that this is even remotely the way our lives are and that this is our reality.  When we don't have as many appointments and we are living daily its easy to not focus on the potential issues and the things that are at stake.  But when intense appointments like the one today come up, its hard not to feel myself slipping and loosing grips of the hope.  Luckily, I have learned to not let it keep me down.  We have a plan and we will always move forward.  God has got my baby boy in his hands and he is standing beside me the whole time.  Together, we will always be surrounding Thomas with light and love for his life!

 The Spirit of God has made me; the breath of the Almighty gives me life. Job 33:4
God brought this little man in to our lives with a purpose.  I feel driven more than every in my life for Thomas and my entire family.  I hope that Thomas' life touches you in some way.  I hope that you feel God's love and presence over and around you as you read his story.  It matters not where you are in your life or your spiritual walk, you are loved tremendously just like you are just where you are.  

If the past is too heartbreaking and the future is to scary and full of unknowns, live in
the present and be surrounded by those who love you most.

Being Thomas' Mommy is Different

Today I was thinking about how being the mom of Thomas really makes my life different, not in a BIG way which is obvious, but in the little ways. Each of my boys are very special in their own way and hold their own challenges.  My oldest who battles ADHD and anxiety issues, which is a daily battle with us and is exhausting.  He brings a bag of concerns with his medication, diet, exercise, therapy and doctors in order to try and provide him with a healthy, happy life.  My middle child is his own person with a very strong charismatic personality.  He doesn't have to demand attention much in that his personality is so full of life that you gravitate to him.  He does have to deal with the fall outs from my oldest which is heartbreaking.  Then you have our sweet little Thomas, who himself while still little is getting amazingly good at sharing his opinion and speaking his thoughts.  Sometimes with a stomp of his feet or a pout in his bottom lip.  These provide the dynamics for our daily life. 

Thomas very quickly has a way of drawing people to him.  Its understandable with those that we know and love, but complete strangers who don't know his story and don't know him will approach us and talk to him.  Its amazing the light that shines out of this special little boy.  That makes being a mommy to Thomas different.  Then we have days like today.  We have a BIG appointment tomorrow so my mind is wandering and my heart is aching with prayer.  Going to church on days like today is uplifting in so many ways for me.  I can be with my church family and be surrounded in our Father's house.  I walk around holding Thomas keeping the other two in tow as we go from Sunday School to Big Church, etc and greet people all along the way.  People who love and support us daily.  They see me smiling and Thomas waving when in my heart I am on my knees.  My prayers are a little deeper, my worship is a little louder as I put all my faith and hope into our Heavenly Father that he will continue to keep Thomas in his hands.  Praying that all of the progress that he has made in so many ways to continue and that his structure on the inside will continue to support him.  We can see him talking, laughing and learning.  We see him grow and develop his personality and attitude.  We can't see what his spine is doing inside, we can't see what is working and what isn't on the inside.  That is difficult to comprehend. 

Tonight before dinner he complained of his side hurting.  If it had been one of my other boys, no big deal.  We would look at it, check it out and tell them to eat their dinner.  Thomas though, what does it mean?  Is it nothing? Is it something?  We took off his shirt and saw nothing, yet he continued to complain.  He ate his dinner and mentioned it a couple of more times.  We massaged the area and gave him some medicine and he is now sleeping.  But again, this is just another example of how being Thomas' mommy is different.

I will update you again tomorrow after our appointment.  We are meeting with the Pediatric Surgeon in the morning.  The doctor who has been following Thomas' spine for months and gave us the official diagnosis of Klippel Feil Syndrome in his neck on January 9th.  We will have x-rays of his back to see where we are from where we have been.  I never take appointments like this lightly as you really just don't know what could be discovered as his little body continues to develop and grow.  I will covet your prayers tonight in my heart and focus on peace for what tomorrow brings.

Matthew 11:28-30  Come to me, all who labor and are heavy laden, and I will give you rest. Take my yoke upon you, and learn from me, for I am gentle and lowly in heart, and you will find rest for your souls. For my yoke is easy, and my burden is light.”

Eye Doctor Appointment Results ~ Aug 27, 2012

I was concerned that as Thomas got older that the anxiety of seeing doctor's would intensify and get worse.  Today he proved to me the completely opposite.  I told him ahead of time that we were going to get his eyes checked.  He kept repeating me over and over. . ."doctor eyes checked" I didn't know if he really understood or if he was just repeating me.  Then in the waiting room he checked my ears, my mouth and my eyes.  This is something he has started doing at home, playing doctor, and I think it is super sweet. 

We were finally called back and the doctor came in and Thomas went and climbed up in the big chair all by himself and sat there.  The doctor giggled and said "not sure how this is going to work?"  I agreed and said I didn't know either.  But I want you to know he sat there and did everything he needed to for the doctor.  He checked the movement and the muscle strength, etc.  Once we were done, the doctor explained that both eyes are still working well together and the muscle is good and strong.  The left eye will still roll and possibly upshoot when he gets tired because in kids the brain will get tired and quit telling the muscle in the eye what to do.  It only really happens when he gets tired and I am not sure how much other people really notice.  I know I do and people who are around him all the time.  He also agreed that Thomas clearly has what is known as 'crocodile tears'.  It has to do with the nerves that connect from your mouth to the eyes and is quite common with people who have Duane Syndrome.  We mainly wanted to rule out that he didn't have a clogged tear duct that may require surgery.  He doesn't though, his eyes will just water up if he is eating, drinking or possibly smells something that wakes up his senses.  Its a strange phenomenon to me, but its not a big deal in the grand scheme of things.

And that was it!! We didn't have to get his eyes dilated this time or anything else.  We were done!! He gave me a copy of the picture eye chart to work with him so that at our next visit we could possibly do it.  No pressure, he said most kids can't do it until they are age 3 or 4.  But I think Thomas would be capable, we will see.  We go back in six months.

Thank you for your prayers!!  I am relieved with our appointment and grateful that there is nothing of concern with his eyes at this time.  He is compensating well and knows nothing different!!

No More Speech Therapy. . . .prayers for eye doctor appt Monday

I still can't believe our insurance company sometimes.  I know you all have your own battles with the beast.  They are willing to pay over $900 dollars for a feeding evaluation after paying over $900 for a speech evaluation but they don't want to pay $400 dollars for an office visit with out sub specialists geneticists.  Whatever!!  I will keep fighting and appealing and maybe they will eventually pay something.  Who knows!?!

The great news is that Thomas no longer needs speech therapy!!  YAY!!  In fact, he has made up for lost time and then some.  He is now above average on his receptive and expressive language.  I was SO Proud!! If you are around Thomas any now you can hear him talking in full sentences and with a wide vocabulary.  I am so thankful for great therapist, a great ENT, teaching him sign language and the time and effort it took by all to get him where he is today.  The goal is to keep his ears clear and open through tubes or anything else so that he can continue to hear well and thrive!!

I am excited about the feeding evaluation.  Thomas is so little and below any chart and his eating is not consistent.  If he could live on yogurt and fruit he would!  He avoids a lot of hard or crunchy foods.  He also will chew up some meat and then routinely spit it out.  Its quite inconsistent to me.  He loves broccoli, but then he will spit it out at times too.  The speech therapist was very interested to hear this and pushed for the feeding evaluation, which does make me happy.  Have I mentioned again how much I love all of the therapist at Children's Healthcare of Atlanta!!  That appointment is set for the beginning of October.

We will also have Thomas' 2.5 year check up in October where we will most likely get our referral to an Endocrinologist.  There is still a very good chance that Thomas' pituitary gland did not develop correctly and he has a growth hormone deficiency.  I have a mutual friend whose son is similar to Thomas in some conditions including KFS and Failure to Thrive.  She is on the same journey as us and the concern was that growth hormone replacement could cause more harm to the spine and its deformities.  But the latest specialists stated that if he needs growth hormones then he needs them and the spine is going to form how its going to form and the hormones will not impact it enough to make a difference.  That information is so valuable to us.  We will see our Pediatrician, the Endocrinologist and we have our follow up with our Pediatric Orthopedic Surgeon.  Between those three, we will decide our path for Thomas. 

Monday, August 27th we have our follow up with Thomas' Ophthalmologists.  Thomas' eyes don't seem to be holding him back much at all, take that Duane Syndrome.  Most times he looks completely normal and it seems to me most people don't notice he has an issue.  If they do see it they don't vocalize it to me.  His left eye does seem to wander a bit especially when he is getting tired.  At this six month check up we are just making sure everything looks good and his vision is still good.  I don't have an reason for concern, but I am not the expert. I will update you all after the appointment.


Your continued prayers, love and support mean more to me than you will ever know.  The appointment last week was not the best news and while I know we aren't going to always have great appointments it still takes its emotional toll on me.  I am thankful for those of you who care and give me encouraging words and remind me about the journey.  A friend wrote this to me and it inspired me to the core "Hang in there, I know you do a wonderful job of staying in the moment and enjoying with him, and that is so good, and so healthy. Day by day... things will unfold and if it is surgery down the road, all of that technology is improving, hold on to that. You are doing such a great job as his advocate and I have no doubt in your determination and wonderful mothering... breathe in and know that time is on your side Allison and we will all keep searching and sharing."

Thank you!!

Thomas is acting like a normal, active 2 year old.  He is going tee tee on the potty quite regularly but he still has lots of accidents.  Last night he peed on his brothers foot!! It was hilarious!!  He knows lots of colors, he is starting to count, we are working on letter recognition, he loves 'reading' to his big brother Tyler. . .he has started laughing a silly laugh and cracks himself up.  I can't express enough how in love I am with Thomas!!

Nuerosurgeon Check up Today.

Wow! Today was long and busy.  This mama bear is ready to crawl in her bed and prepare for Friday.  We started with Mom's Morning Out, which is crazy but fun.  There are so many cuties in there!!  Its such a blessing to enjoy them for my job. 

We left Mom's Morning Out to go to his appointment at the Spine Care Clinic at Scottish Rite.  It is really a pleasure to go there if you have to endure such a thing with your little one.  They are so nice and understanding and are always concerned about the level of pain he might be in.  I was able to brag about how well he is doing and how strong he is getting.  Our appointment went well.  Thomas did good through the x-rays, especially for a 2 year old missing his nap.  I do have to admit while the radiology tech was pleasant I never like the uneducated comments that are made during the x-rays.  They move him one way and take a picture then go and look and you hear the different comments that shows that they have no clue about his case.  Its a little unnerving to me but in the same respect I can't fault them either, they are just doing their job.  NO he hasn't had surgery.  YES there is lots of fusion.  NO he can't bend like that.  YES that is normal for him.  *sighs*

Most importantly, I love, love, love the doctor.  He is so friendly and down to earth.  He will sit their calmly and answer your questions until you are completely comfortable and understand the information.  The doctor came in an explained to me today that Thomas' neck has continued to stay stable.  They were able to get some x-rays showing movement and found one area that needs to be watched.  He has fusion in his neck from C2-C3 and C4-C7.  There is movement between C3 and C4 which in most circumstances would be good, but it can cause reason for concern if it begins to shift against the bone instead of correct movement.  He eluded to the fact that if that were to happen and its probable that we would need to correct it with surgery with a fusion.  That would also limit if neck mobility quite a bit.  Not really the news that I wanted to hear, but at least I know and can be specific in our prayers that that area will continue to cooperate for Thomas now and years and years to come.

The doctor also checked his reflexes and movement in his legs.  He mentioned again that at his last MRI that the spinal canal looked nice and open.  We are both hoping his spine will continue to allow for his spinal cord to not be compromised in any way. 

Waiting to see each of the people in the clinic, x-rays and doctor.  He did great!

Days like today remind me of our reality.  The grim reality of what is going on inside my little man that I don't have to see or face when I am playing with my smiling, adorable little blue eyed blonde headed 2 year old!! I so enjoy him and it really does pain me to think that his life will not always be manageable.  I have always had a good relationship with my Lord and Savior, but it has never seemed more important for me to have a daily walk with him and my boys how to walk in the light. I would not be able to get up each morning without knowing that someone bigger than me, bigger than my problems, bigger than this earth has got me and my babies in his hands.  I will process this information, pray, meditate and spend the next couple of days working to give this back to God. 

On our way home after a very long day!

Thank you for all of your prayers and support.  Overall, he is doing great!! Surpassing what all of the therapist had set for goals for him and is a happy precious little boy.  We walk into a place and he starts waiving "Hi Man".  Hee hee!! I love taking him places, he just makes everyone smile and they don't even know him.  We could have got much worse news today, but as for now I will take that all looks well see you in 6 months.

Our speech evaluation got moved to tomorrow too!! I am excited! They had a cancellation and called me today.  I will update you tomorrow afternoon.  I would love nothing more than for them to tell me I wasted my time and he doesn't need it, otherwise we will move forward with private speech therapy and watch him exceed there as well!

"The LORD your God is with you, he is mighty to save. He will take great delight in you, he will quiet you with his love, he will rejoice over you with singing." Zephaniah 3:17

Here we go!!

You just can't look at this picture with a straight face. . . I mean, really.  This is a great image of how determined he is to do all that he wants to do with no limitations.  I truly think that only an expert hand can feel the low tone in him at this point, because he has gotten so strong and is doing so well.  All of his therapist are blown away with his progress and they are all starting to taper off on appointments.  I am so proud and so happy for both us!! 

Next week is our six month check up with the Neuro Spine Care for Kids Program with Thomas' Pediatric Neurosurgeon and his team.  The are so nice and thorough, its a pleasure to go and learn about what is going on inside Thomas with his spine and neck vertebrae.  Most likely we will have a round of x-rays and then meet to discuss if there have been any changes since his last visit and discuss his next MRI.  I really despise putting his little body through so much radiation, but its the only way to truly see and monitor what is going on with his bone structure as he grows.  I have to remind myself that the long term affects on his body from the radiation outweigh the prevention that we are attempting to do for his spine and neck.

Prayers are always appreciated for this little man.  I pray that everything is stable and looking good and we can just continue and move forward without any further intervention at this time.

Thank you for your continuous prayers and support, it means more to us than you will ever know.

I am with you and will watch over you wherever you go, and I will bring you back to this land. I will not leave you until I have done what I have promised you." Genesis 28:15

Growing in more ways than one!

Yesterday we had our three month height and weight check on Thomas.  We were most concerned about his height growth, since he had actually flat lined on his growth chart.  I was so excited yesterday to find out that he had caught up for height!! His height is still off the curve, but he is back on his curve.  His weight has dropped down a bit on the curve, but this is normal for Thomas as you can see for it to go up and down depending on his caloric intake.

As of 8/03/2012 at 2 years 3 months weighs 23.2 lbs and is 32.7 inches tall with a BMI of 15.25 kg/m2.  I am very pleased with this at this time.  We will go back for another check up in three months when he is 2 and a half.

This does not mean we are in the all clear for the Endocrinologists, in fact, we will probably see one before the year is out.  But I am learning that doesn't mean we will have clear answers then either.  I have since learned that if his pituitary gland did not develop properly and is effecting his growth, they will suggest growth hormones.  However, given that Thomas also has KFS they may not want to give him the growth hormones because their is not enough research to suggest that the growth hormones would not compromise the spine in a negative way.  So once again, we have a issue that may not have a clear answer and we will just need to continue to pray that Thomas will grow and get stronger and little miracles will overcome the challenges in his life.  Most people think that a growth hormone deficiency just means that a person will be really short and small. That's what we thought also, but in reality there are other serious concerns for children with growth hormone deficiency, such as: heart strength, lung capacity, bone density, immune system function and much more!

In the meantime, we will continue to work on increasing his calories again to get his weight back up a bit on his curve the best we can.  I am not overly concerned since he has been teething and his weight has always fluctuated quite a bit.

I have also recently learned that Thomas may not be eligible for Katie Becket Medicaid waiver after all because you have to require therapy 5 times a week.  Thank goodness Thomas is not at that level of care, but in the same respect it would be nice to get Thomas qualified for some type of medical assistance.  I am so grateful that there is such a program that helps children who are really in need and it allows them to stay at home with their family with best support. 

We could not have financially made it through the last seven months without the financial contributions from our family, friends and our awesome church family and organizations like Caring for a Cause.  Our church family had created an unsolicited medical assistance fund for Thomas, which has been such an unexpected family. Caring for a Cause hosted a family event and corn hole tournament with raffle as a local Mexican restaurant that was a wonderful blessing.  I had no idea what this year was going to bring and of course their is the unknown of the coming months and years to come.  Through this God is teaching me to keep the Faith that he will provide.  I thank each of you from the bottom of my heart for every penny that you have given for our sweet Thomas' medical care this year.  We honestly, could NOT have done it without you.

Thank you for your continued prayers and support, it means the world to us to know you have our backs and will hold us when we are weak.

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

As Summer comes to a close

Its hard to believe it, but fall is coming.  Countdown to school starting, football and for us our next round of doctor's appointments.  I spent two hours the other day just calling each of Thomas' specialists office and making his appointments.  At least now we have them all on a six month rotation about the same time.  My hope is we will see all the doctors by the end of September and get his MRI before the end of the year.  My other HUGE hope is that nothing has changed and he is still stable in all areas of concern: eyes, ears, neck, back and growth.  I have enjoyed playing 'normal' with the kids this summer.  Nothing fancy just a water hose in the backyard and ice cream the way it should be, life simple.  Loving and enjoying the time that I have with my three beautiful boys!

Please pray for Thomas that he is continuing to grow stronger each day and that everything is stable right now.  I will keep you updated as our appointments come and go.  We love each and every one of you so very much and I wish I could take Thomas on a tour so you could all meet him for yourself and get some of his sweet, sweet sugar.  He has such a fabulous personality about him and is so sweet with his little talking and how he talks to others (strangers) all the time.  That sweet little face with those big blue eyes looking at you just grinning.  His life is Fabulous!! He is having fun, learning and doing all he can to be like his brothers.  Most people don't have a clue that their is anything different with him and right now I just relish in that fact.  I share all my boys with all of those willing to love them.  They are special blessings from God and I cannot explain to you the amount of gratitude I have for my own children as well as all of the other beautiful children gracing this Earth. 

I do need to mention one other thing that I am SO, SO thankful for and that is the other mother's of KFS children that I have connected with.  So many times from my blog I get emails from other moms asking me questions and comparing stories and its heartbreaking and comforting in the same token.  I don't wish this on anyone of course, but to have someone to compare notes with and doctors and tests.  It helps to answer my own doubts and questions that I have as his mother.  Is this doctor the best?  Should there be more tests? Less tests?  Are we doing this wrong?  Did I miss something?  We are all able to share and figure it out together.  My heart is heavy with some of the information that is shared, I'm not going to lie.  But I would rather know what I might be up against and prepare the best I can than to not know or miss something.  Its actually pretty hard to miss anything with the team of doctors and wonderful pediatrician that I have in our corner.  Doubts are normal.  My fight is to not let them get the best of me and to take them as they are, keep my Faith and Hope and rise above for Thomas. 

Thank you to the other mother's out there who battle with the unknown, make countless phone calls, doctors visits, therapy, nutrition, etc.  To the mother's who have pity parties and often because this wasn't the fairy tale dream we thought we would have.  I feel your frustration, your fear, your loneliness and will tell you its okay.  We never have to truly accept this, after all, we are their mothers. 

Stay positive and show Grace.  Always remember that each day we are getting stronger and are becoming better mothers and better people.  It is our job to teach our children that despite their extra challenges they must stay positive and persevere.  This world is rough, people are mean and selfish, people leave and we get hurt all the time even by those who love us most.   I say show them Grace, real forgiveness from your heart as our heavenly Father has shown us.  In each person I believe there is a little child who is still wanting to know that they are loved for who they are, they are forgiven for their mistakes and will always have someone to wrap their arms around them when things get hard and whisper in their ear "it will all be okay". 

Thomas, my sweet boy, know that no matter what you are going to be okay.

 

Psalm 139:14

New International Version (NIV)

¹⁴ I praise you because I am fearfully and wonderfully made;
    your works are wonderful,
    I know that full well.

Summertime! God's promise of sun and warmth.

Its summertime around here without a doubt.  We have gone on vacation, went to the beach, ate ice cream, played outside A LOT, stayed in our pjs all day, swim lessons, played with bubbles and chalk. . . well, you get the idea.  We have kept up with our therapy with a few cut backs for summer.  I have been trying to balance the busy with the calm the best I could for the boys.  Thomas was able to enjoy the swim lessons a bit, they have fabulous lifeguards that are extremely helpful and fell in love with Thomas.

We have gotten into a great habit of working on some of our OT lessons while I cook dinner each night and he loves it and is getting SO good at it.  My goal is to always be working with Thomas to keep up his muscle usage and thus strength in fun ways.  Its best so he doesn't think he is working.

School starts up in three weeks and our next round of appointments will start kicking in.  We will have our follow up with the Ophthalmologists, Pediatric Orthopedic, ENT, Spine Care Clinic and our annual MRI by December.  I will keep you all updated as these things start coming down the pipeline.

As for me, the mommy, its been still been a roller coaster to be honest.  I like to think that we are normal and that its really no big deal when we are living our daily lives.  But the reality reminders are always popping up again and again.  I biohazardous package coming in the mail, CHOA statements, insurance EOBs, but the most heartwrenching is hearing the stories of other KFS sufferers. 

I have come to know and love them so dearly. It benefits me to know them and to stand with them to promote awareness and research for KFS.  I joined to learn more, to know what we were up against, to try and determine some type of prognosis for Thomas.  They are beautiful people just like you and me, children of God made specially by the makers hand.  There are good things I get to learn about and then their are the disappointing, disheartening things that you read such as this post:

After being given incorrect info about MRI yesterday and going to get report myself ...I am exasperated that Dr has no suggestions on who to see, lack of connection to the pain level, no ideas for new course of treatment and here I am in the same painful place with spinal canal narrowing, which is new. Sorry...just needed to get it out. And before you say, get a new Dr, I should list all the Drs I've seen. Running out of them.

The frustration is overwhelming, the pain is daily and barely manageable.  The medications are numerous.  I could go on and on.  I pray that her life is touched with healing and answers.  I pray that she knows that through her pain God loves her unconditionally and will help her through.  I pray that this will not ultimately be Thomas future.

Jeremiah 29:11
For I know the plans I have for you,” says the Lord. “They are plans for good and not for disaster, to give you a future and a hope.