Therapy and More Therapy

The doctors appointments have slowed down a bit right now as we have checked out about everything there is to check out and gotten second opinions where needed.  The specialists all feel that in their particular area that there isn't anything more that we can do and all is being done that can be done.

Therapy is one of those things that is being done.  We are doing OT once a week now and PT is every other week.  Speech therapy has its own schedule since its with the State program.  A lot of why we are doing therapy is for two main issues, his abnormal bones and the congenital hypotonia.  The following is a diagram that I found that really shows how a floppy baby or low tone baby looks.  It is very common with many syndromes that you have probably heard of such as, Downs Syndrome, Fragile X, Prader Willi Syndrome, etc.

It has been explained to me several ways by different people because frankly I still get confused.  Is this long term?  Will he always need therapy?  Etc.  Basically, here is the way I got it.  They don't know what exactly is causing Thomas' hypotonia and until they know the exact cause, they don't know if it will ever improve or not.  So like everything else with Thomas, he was born this way and we don't know why and we don't know what the future holds.  But again, we are on the right track by getting the genetic testing done.  We will wait and see.

An update on Thomas and all of our therapy, which I can't say enough good things about our therapist and the group at Children's Healthcare of Atlanta at Mt. Zion Rehab.  Everyone knows us when we come in and especially our Thomas.  He is loved by all of the therapists and staff there.  He is up to par right now on his Gross Motor Skills.  Our PT, Monica, is thrilled with the progress and described how Thomas is such a different child now than when he first came in.  Our objective was to build up his muscles and get his trunk (core), arms and legs stronger to help compensate for the low muscle tone.  He has done this and worked very well on his body awareness.  Having strong muscles is much different than have low muscle tone and I am still learning the difference and what this means.  He still falls a lot and that is still do the hypotonia as far as we can tell.  It could also be do to lack of depth perception.  We just won't know until he is older and can tell us what he is experiencing.  The good news is he doesn't know any different, so its not a problem for him. He has become the master at catching himself and even impresses the therapists.  With our PT we are still working on stretches for his neck to build those muscles up around his fragile bones and extend his range of motion.  This too he has gotten quite good at!!  His range has increased a lot and he is looking up more and turning his head farther than before.  Thomas has also developed a bulge of muscle in his lower back that has been created from compensating for his scoliosis.  We are working on deep massages to help ease the tension and tightness that this may be causing in his back.  He seems to like it as when you start rubbing, he will lean back into it.  You cannot use the same pressure on the muscles surrounding his neck though, his pain tolerance in that area is much less.  The PT has said that we can probably lessen the amount of sessions that we are having at this time as he is on target per gross motor skills and we have great support at home to continue the progression.  We will always need to have PT for him and will need to check in with her on a regular basis.  The bottom line, we will never be cleared.  There will be times when he might compensate wrong, stop using certain muscles and they weaken or once he gets into school there may be things that he cannot do or do as well as the others that we will need to address.  But overall, the investment we have made into PT is paying off right now and we have an active two year old who is quite capable.

OT is really another chapter on its own and is very much related to speech therapy in its focus and direction.  I will blog again more about his OT, but I did want to mention that he is doing well.  We still have a lot of work ahead of us in his fine motor skills.  I did learn today that Thomas is very much a muscle seeking sensory child.  I may be saying that wrong, but that is what I got from it today.  All children seek sensory, some more, some less.  Thomas is on the high end of this which causes him to be extremely active and constantly climbing up on things and doing things above and beyond.  As a mother of three boys and wanting Thomas to be a normal toddler, I embraced his activeness and love to watch him climb, learn and explore.  Today though, the therapist explained to me what he is actually trying to get out of it all and how I can help him.  It was really amazing!!  She explained how if I can hold him in certain ways and really get into his muscles to activate the nerves in that area. This may actually give him what he needs and be a bit less of a daredevil and be more content on a normal level of activity for a two year old.  Deep pressure therapy is really a topic all on its own as well.  I have lots of different techniques I was researching tonight that I can try with him.  I will update you when we start seeing what we can do. 

I am willing to try it as we are already doing massages on his neck and back and was doing the deep pressure hold for his temper fits.  On a side note, his temper fits or head beatings have reduce which has been a huge relief for this mama.

So, there we are.  I will write another blog on his OT and ST.  But I just wanted to explain in more detail where we were with Thomas.  We are averaging about three appointments a week still and most of that is focused on therapy.  I don't mind it now as it has become normal routine.  Its a little different now being part of our summer, but we will make it work.

On the days we aren't running up town, we are trying to relax in our pool!!

Natalie Grant: "Your Great Name"

This has been my song these last couple of days.  What a powerful song to sing at the top of your lungs in your kitchen or your mini van?!?  To think that the enemy must leave just at the mention of your name, "Jesus".  Yes, he must leave for he is not wanted here.  My God is with me and he is more powerful and stronger than you.  Listen and absorb how mighty and powerful our God is and how much he loves you my sweet friend.  Life is hard, its complicated, people are mean for no reason, they will lie to you, they will hurt you and they will make you feel worthless and abandoned.  Friend, while you are down and on your knees remember to look up.  Your Father has his arms open to you and wants to hold you. . . . . .let him.

 Verse 1: Lost are saved; find their way; at the sound of your great name  
All condemned; feel no shame, at the sound of your great name  
Every fear; has no place; at the sound of your great name  
The enemy; he has to leave; at the sound of your great name
 
Chorus: Jesus, Worthy is the Lamb that was slain for us, Son of God and Man You are high and lifted up; that all the world will praise your great name
 
Verse 2: All the weak; find their strength; at the sound of your great name  
Hungry souls; receive grace; at the sound of your great name 
The fatherless; they find their rest; at the sound of your great name  
Sick are healed; and the dead are raised; at the sound of your great name
 
Chorus: Jesus, Worthy is the Lamb that was slain for us, Son of God and Man You are high and lifted up; that all the world will praise your great name
 
Bridge: Redeemer, My Healer, Almighty My savior, Defender, You are My King

Today. . . May 23rd, 2012

<sup>Luke 6

38</sup> Give, and it will be given to you. A good measure, pressed down, shaken together and running over, will be poured into your lap. For with the measure you use, it will be measured to you.” 

As I sat in my sweet pastor's office this morning, this verse immediately came to his mind and out of his mouth for me to hear.  I sat there asking him how to thank all of those who have helped me.  How do I say more than 'thank you'?  How do I make sure that each person hears those words from me and knows I am genuine?  I was raised to be strong and independent in almost all facets of my life.  This now translates into me having a difficult time asking for help when it truly is needed.  I am learning the hard way, which is the best way, that I can still be strong and independent while leaning on those who are standing beside me with their arms outstretched to me.  I will tell you there is still hesitation before I lean, but once I do lean into your arms I will melt.

All of my life I have tried desperately to make friends, be the good girl, make the good grades, be the best employee, go above and beyond in all that I do.  Its what makes me smile and keeps me going to know that I have done all I can and given my best at what I am doing.  My passion is in others and making them proud and happy.  I won't go into the psychological portion of this with you, but know that I do have some self awareness here. *wink*  Most of the time in my life though, I give knowing I will not get back the same.  Now my life seems quite different with my precious Thomas.  Now those around me are giving to me in ways I cannot fathom without me doing a thing.   There are so many people who need our prayers, our support and donations for bills that cannot be paid, that I still have a hard time believing that someone would sit down and think of Thomas first.  I want to scream at the top of my lungs "Thank You!! I love you!! What can I do for you?"  Most of the people who are doing this purely from their heart are unknown to me.  I am the recipient of the anonymous gift of love.  My prayer is that you read my blog and hear my heart.  I cannot say it enough, "Thank You."

My pastor reminded me today of the verse mentioned above, Luke 6:38.  He gently told me that I do thank people all the time and my giving is my way of service.  I was humbled and needed to hear those words.

I know I spoke about denial before, but I keep coming back to it.  Maybe its not denial, maybe I can't accept that their are unfixable things with Thomas. . . I don't know.  I live with him everyday and love him everyday more than the last.  He is adorable, and his personality is so stinking cute.  He does things that big kids do while walking and talking like a sweet toddler.  Those baby blues and that blonde hair can melt my heart in an instant.  Maybe its just a mother's heart sees the perfection he is instead of the flaws that he holds inside.  I understand the frustration of having invisible disabilities and the challenges that may lie ahead with them, but for now it makes things a little bit easier on a daily basis.


Pray for me and Thomas and know that I am praying for you.  My heart is overflowing and I want everyone to experience the type of joy that God has shown me through your love and your compassion.  Its amazing what one tiny heartbeat can do to so many.


Thank you.

Caring for a Cause

Dear Local Merchant,

We are a Non Profit Organization, Caring for a Cause that reaches out to local families in need.  We began back in November of 2010 by helping out a 2nd grader Maddie Briscoe from Ola Elementary that is fighting Stage 4 Neuroblastoma.  We held a baseball tournament and raised nearly $27,000.00.  Since we have helped many other local families raising over $135,000.00. 

We are currently helping 3 other local children.

Maggi Blair of Stockbridge was born with Trisomy 9 Mosaci Syndrome.  We will be hosting an Evening on the Farm on June 16^th at Southern Belle Farms in McDonough to help with her medical expenses.  This night will consist of a live auction and a catered dinner.  We are in need of auction items for this event.  We will have t shirts for this event any donation of $200.00 or more your business logo will go on the back of the shirt. Any other donations you will be on the event banner.

Micah Richardson and Thomas Jolley will be the recipients of Miracles in the Making.  Micah is an 8 month old baby boy that stopped breathing on New Year’s Eve.  It has been called a near SIDS event.  Where he is a living miracle having been without oxygen for an hour we want to help his family see another miracle.  Micah has been left paralyzed from the waist down and has severe brain damage.  He is a prime candidate for Hyperbaric Oxygen Chamber treatments and this is what the money raised will go towards. Thomas has been diagnosed with several very rare congenital syndromes in the months since he was born.  He has Duane syndrome effecting his eyes, Klippel Feil Syndrome (fused neck vertebrae), Congenital scoliosis including both hemivertebrae and butterfly vertebrae in his spine, low muscle tone, heart murmur and a couple of other minor things.  At this time they are calling is Wildervanck Syndrome, which at most has a paragraph of information on the Internet and in any physician’s books that we have met. The money raised will be to help give Thomas the best medical care he can receive. This event will be held Saturday June 23^rd.  It will be a Summer Festival and Corn Hole Tournament at Padres in Locust Grove. We will also have t shirts for this event.  Any donations of $300.00 or more your business logo will go on the back of the shirt, set up a booth at the event and be on the banner.  All other donations will be on the event banner.

If you would like to be involved with both events we have options for sponsorships below.

Platinum Sponsor – Limited to 3 - $500 cash donation and $300 raffle item or gift card.  In return you will have the largest logo on both t-shirts, as well as both banners.

Gold Sponsor - $500 cash donation. In return you will have your logo on both t-shirts smaller only than the presenting sponsor, be on the banner. And will be allowed to set up a booth at the event.

If you have any questions please feel free to contact Nikki Rogers at 404-731-1635 or nikkirogers03@yahoo.com.

Thank you.

Nikki Rogers

Creating support where there is none. . . .

I have been going non stop for days now and finally I have a chance to take a breath.  Thomas has been doing well.  We are keeping up with all of our therapies and he is excelling in all he does.  He started to complain about his ear the other night, so we are definitely keeping an eye on that.  Last summer just before we left for our little vacation is when his ears started acting up again, so I am very vigilant.  

While the therapies are non stop our appointments have slowed down a bit.  I did get in touch with Dr. Emans the Professor of Orthopedic Surgery, Harvard Medical School Director, Division of Spine Surgery, Department of Orthopedic Surgery, Children's Hospital in Boston.  I want to have confirmation that we were getting the best here in Atlanta in comparison to their Spine Care Clinic in Boston.  He knows our Orthopedic Surgeon and assured us that we were in good hands.  That gave me a sigh of relief that at least for now maybe we can just sit back and continue to pray that things stay stable.

I personally have had to shift focus back to my oldest for a bit as he suffers from ADHD and a mood disorder.  The medicine he was taking was working in some aspects and not in others.  We now have a plan in place for him and are already seeing improvements.  This will always be an ongoing process for all of us, but I am so thankful for great, understanding doctors and friends willing to help me out with my other children when I need them.

I would like for you to take a moment and scroll down at the beautiful children I have added to this post.  Each one of them have a mommy like me, searching the Internet for answers for their sweet children.  We provide understanding, empathy and comfort to one another.  When these women first started to contact me, my heart just broke.  I didn't want anyone else to be on the same journey that we are on or have another child who has an unknown future.  God then turned my eyes and heart so that I could instead embrace that we have each other.  We could share information, doctor's reports, symptoms and hopefully one day we will share all of our success stories!  

We have a team of people who have been touched by Klippel Feil and other associated Syndromes and anomalies working to create awareness so that we can hopefully get enough people to pay attention to provide more funding for research, treatments and prevention!!  Please pray for these and others and that one day this and the other rare genetic disorders no long exist!

Chase, 3 years old, KFS~Mom is Vicki

Ford, Duane Syndrome and possible KFS ~ Mom is Amber Weinhart
Additionally, he has gastrointestinal issues, undiagnosed still.

Bryton, almost 7 months old~Mom is Jordan
possible KFS

Dylan, 2 yrs old~Mom is Erica
Dandy Walker Syndrome, possible Wildervanck without Duane Syndrome.  MRI was done KFS has yet to be confirmed due to impending surgery for fluid on the base of his brain.  Surgery May 15^th.

Confirmed KFS on May 17th, 2012

Tommas, Italy, 2 Years Old~Mom is Frederica
KFS

.

Nolan, 5 months old~Mom is Ali Nelson
KFS – moving to Atlanta for care with CHOA

Molly, 8 months old~Kim is mom
Thought she had Duane Syndrome but doesn’t.  Still testing to figure out what’s going on.

Thomas, 2 years old ~ Mom is Allison
Diagnosed with Wildervanck Syndrome (Duane Syndrome, Klippel Feil Syndrome, hearing loss and other related anomalies.)

 

Celebrating the Blessings!!!

Saturday was Thomas' Birthday party.  We had a lot of family and close friends come and celebrate with us! It was wonderful.  We are so blessed to have so many amazing people surrounding us and this special little boy.

The best was Thomas sitting there for what seemed like an eternity to blow that candle out.  We were very patient holding off the other kids and telling him to blow.  As you can tell from his face, he knew what he was doing the whole time.  He finally blew the candle out and the applause was loud and boisterous!!  It was hilarious!

We have still been working with out PT, ST and OT, but other than that we are kind of on auto pilot for now. We also got the report from the geneticists with the diagnosis of Wildervanck Syndrome, also known as Cervico-Oculo-Acoustic Syndrome.  So, we can finally move forward with our Deeming Waiver application for Medicaid coverage for Thomas.  That would be such a relief for us if he could be covered this way.  We maxed out the insurance by the first week in March and we certainly cannot afford to do that every year, but see no alternative at this time.

Here is a list of Thomas' current diagnosis:

# DUANE'S SYNDROME (378.71):

# LACK OF COORDINATION (781.3):

# CONGENITAL ANOMALY OF SPINE UNSPECIFIED (756.10):

# FAILURE TO THRIVE (783.41):

# MULTIPLE CONGENITAL ANOMALIES SO DESCRIBED (759.7):

# KLIPPEL‐FEIL SYNDROME (756.16):

# UNDESCENDED TESTIS (752.51):

# HEARING LOSS (389):
# SPEECH AND LANGUAGE DEFICIT UNSPECIFIED (438.10):

# HEART MURMUR (785.2):

I despise talking about money and finances.  Funny being that I have extensive experience in financial planning, but I don't like talking about our personal financed.  Our online fundraiser came to an end on Thomas' Birthday with a total of $5300!!!  Wow!!  All of these funds have gone directly into Thomas' medical account and I have already begun writing checks.

 Such a rewarding feeling to be able to pay these fabulous doctors, nurses and physicians who have been providing ultimate care to our sweet Thomas.  I have prayed diligently to God for his guidance and to provide for us.  I finally made the ultimate step and started seeking for care for Thomas no matter the costs.  The blessings have poured in from each of you and beyond.

A fabulous blessing last week was as bill that should have been over $2,000 dollars that had a courtesy discount that lowered the amount to $100.  That is GOD!!  Companies don't just give you a discount of $2,012.  Its amazing what happens when companies and people do things just because.

Tommas, Italy, 2 years old

I do want to share one last thing with you that I also found truly amazing this week.  Through my blog and word of mouth, many moms have come in contact with me through this site and from referrals.  We share frustrations, pain, love, medical diagnosis and our children. I pray that God continues to use me in this manner because it is such a blessing to reach out to these moms and share.  The latest I got this week was from Italy, her son Tommas (Thomas in English) is her third son who also has KFS.  He was born on April 5th, 2010.  Isn't that amazing!!  My Thomas is our third son born on April 29th, 2010.  That is not coincidence, that is God!  Isn't he adorable?!

Please continue to pray for us and all of those who have to deal with such rare and unusual conditions.  Pray for the medical field that they will have compassion for our children and others who have unknown futures due to their abnormalities that they will fight, research and find treatments.  Thank you for your commitment and undying support.  We are touched by you all, everyday!

Pediatrician ~ 2 Year Check Up

The Good News!! No Shots this visit.  There was no screaming or fighting during this visit either.  Amazing!! The only thing he had to do that he didn't like was lay down so we could measure his height.  Everything else he was game for today.  Amazing, two days in a row of him cooperating and not freaking out.  I know its not his fault that he has such anxiety at doctor's offices, but it sure makes things harder.

I didn't post about yesterday, so I will real quick.  We went to Scottish Rite where they have a new Audiology testing facility which was full of toys.  Thomas walked right in and she was able to complete all of the test without any screaming, crying or fights.  In the sound booth, we tried to get some ear specific test done.  He froze up when they put the probes in his ears so we had to test him using speakers.  It is a horrible feeling to hold your child in your lap and sit still while you hear the sound that he should be turning too.  You are willing your child to turn their head with your mind.  His hearing tested fine for him, he is still hearing all of the normal ranges, but it did slightly decrease from last time.  We will go back in September unless his tubes fail before then.

Today we had his two year well visit check up.  He seems healthy despite all of his conditions at this time.  We discussed each specialists and therapy that Thomas is involved with and she made sure all of her records were up to date.  Thomas appears to be catching up quite well with his other two year old counterparts and is hardly showing any signs of developmental delay.  Yay!!  She did notice that his left tube is already sliding out of place and working its way out.  She said when his tubes do begin to fail this one will be the one to fail first.  The right one is still doing good.  Funny because his left ear has always showed more hearing loss than his right.  I wonder if there is something more specific to that?  Anyway.  We will watch it and let the ENT know if anything changes.  We don't want to have any lapse in hearing if we can avoid it.

The other concern with Thomas is of course his size.  In particular his height.  It doesn't matter how big or small your children are just as long as their is consistent growth there is no need for concern.  However, if there is a flat line or drop off on the cure, well then you don't have a curve anymore.  It has taken us 12 months to get Thomas' weight back on the chart where is should be and kept it where it is.  He is still in the >3% percentile but we have recovered from his drop off with the PediaSure supplements.  As expensive as they are, it is working for him and we must continue with them.  Now, as for this little guys height.  It has been steady as he grows, but in the last six months we have had a drop off.  Weight is directly related to calorie intake, but height is not.  Height is based on other factors including such things as growth hormones.

What's the plan?  Well, we are just going to have his height and weight checked every three months so that we have clear data as to his growth pattern.  Is this a fluke?  Will he have a growth spurt, etc?  If his height is showing a clear pattern of decline then we will have to go see and Endocrinologist and have him tested for growth hormone deficiency.  Here is a link for more information: http://www.hgfound.org/pub_growth.html I have already done a little research and have found some interesting information in this respect.  People with KFS tend to be on the short side and I can see where the fusion would limit the extension of the neck, but not overall height.  Maybe it is more commonplace without medical data that it is another congenital factor that comes with the 'package'.  For now we wait and see and cross that bridge when we get there.  At least now I have a better idea of what we may or may not be up against.

For now, I will enjoy my little man and all that comes with being little. 

“Life shouldn’t be predetermined by my needs to have an ‘easy’ life…. I am not sure what is in store for us and Thomas, but to think of anything less than allowing God to unfold in this beautiful, yet challenging moment of creation, would be unconscionable. No matter where Thomas goes in this life, I will know that life was given a chance to exist unhindered by any act of self-centeredness.”