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