What does this mean for his future?

Wow, I get this question a lot and I got it again last night. It usually comes with real genuine love and concern for Thomas and I want to answer it.  I want to give you a positive uplifting answer.  I want it to sound promising and reassuring.  However, this question does not have an easy answer.  The most honest answer would be "I don't know". 

Here are the facts:

• He is currently quit growing and is quite small for his age. 
• He has fusion from C3-C7 which will put extra stress on the vertebrae above and below that area which will lead to degenerative disc disease.  This is not an actual disease but the term they use to describe the process that happens to our bones.  This does cause debilitating pain for any individual who experiences it.  Individuals born with fusion will feel the effects of this much earlier than a normal individual.  Consider the process accelerated.  There is no treatment or prevention other than PT that can be done at this time.
• He has scoliosis in his back along with several abnormal bones making up the structure.  Currently its stable.
• He has Duane Syndrome which has no treatment but effects the movement of his eyes, depth perception and possibly causes double vision.
• He does have low muscle tone which cannot be cured but we can keep his activity level high to build strength in the surround muscles to help him compensate appropriately.  We do PT and OT for this.  We also do ST since this also effects the muscles in his mouth. 
• He does suffer hearing loss when the tubes are not working properly in his ears.  He is on his second set and will have another set before the end of this year.
• All of his organs seem to be in tact and developed properly at this time.

I think that covers it, maybe not.   Its even hard for me to keep up at times.  What does all of this mean for Thomas?  We really don't know.  My prayer is that God will protect him with all of his might and be the absolute Healer that he is for Thomas.  In this, Thomas wouldn't have to suffer the pain that I now know so many adults suffer from with similar issues as Thomas.  The majority of the adults I know with KFS are extremely frustrated and marked by their pain, numbness and disorientation daily.  My heart aches for them and then my eyes widen as I look at my sweet Thomas jumping, running and playing keeping up with all the other kids.  I hold 'virtual hands' with the other mothers who have the same look in their eyes when looking at their own children. 

The other question I often get is "How is he doing?".  I take a deep breathe, smile and say "He's good".  He is, isn't he?  He is running, jumping, climbing all over the place just like every mom wants their two year old to act.  He is talking and learning new words, expressing himself more and more each day.  He eats when he wants too, drinks when he wants too and pouts when he doesn't.  He has an infectious laugh and has become quite good at entertaining himself and others.  People seem instantly drawn to him and I hope that is something he always carries with him in his life.  His therapist are amazed at his progress and how well he is doing in his latest challenges, despite his setbacks he is meeting age appropriate goals.  Speech is still a process but we aren't worried, he's 2!  We have no doubt he is intelligent and will get it in time.  We know other issues may still arise during his life and are prepared to meet each challenge as they present themselves.  That is what we have been able to do so far and that is what we will continue to do with the Lord's help.

The question no one has asked is. .. "How are you financially?"  People have been so generous to us.  I just can't say enough about it.  From our own online fundraiser, to the continued support of donations from our church to the latest event by Caring for a Cause.  It has been a long, long journey for us to get the diagnosis of Thomas and figure out what we were exactly dealing with and the extent of it all.  This journey is not a cheap one and our insurance company has done well in most instances but not in all.  Some things are just beyond their comprehension, in my own opinion, but that doesn't mean we aren't still fighting them with appeals.  We had to cut back, our priorities shifted from our own wants to the needs of our child.  I don't think it is necessarily a bad thing, but I do hate the feeling that we must put living our lives and doing for our other sons on hold completely in order to prevent a financial collapse.  Because of your generous donations, we can pay bills for Thomas, budget properly and live.  Live knowing that God is going to provide for all of our needs if we just believe.

Thomas medical fund is helping to support all of his medical needs.  Thomas needs the therapy to be where he is, I honestly believe the investment and early intervention has made a HUGE difference in his quality of life.  We will probably never be rid of therapy and I am okay with that.  He will need a MRI at least once a year to monitor his vertebrae in his neck and back and this will be under sedation until he is old enough to do without.  X-rays are a constant in Thomas' life as well, at least every six months sometimes more.  We will have to continue to pay for his orthopedics to help his feet be stable and in a good position to help strengthen the alignment in his back. Please don't get me wrong, I not complaining or whining about these things.  I am trying to explain how your money helps us.  I think its hard sometimes for others to comprehend since his disabilities are invisible.  I know its difficult for me sometimes to accept it because he doesn't look sick.  If there ever comes a time where Thomas' Medical Fund happens to have more in it than we need, I promise to pay it forward and donate those funds to a worthy cause similar to Thomas or a supporting organization that Thomas has benefited from. 

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

The Event ~ Caring for a Cause

Oh my goodness, its been twenty four hours since the event and I still don't think my mind has realized the full extent of what happened last night.  My heart is overflowing with joy and my head is bewildered at the kindness of strangers to my family for our little Thomas.

Caring for a Cause is a local group who come together to host fundraisers for little ones in financial need.  I was connected with them through a friend at the church and they immediately took Thomas on and began planning the event.  It was a family fun night with airbrush tattoos, a balloon man, large inflatable slide, t-shirts, raffle and a corn hole tournament.  We were able to invite lots of friends and anyone who could come and enjoy a great Mexican dinner and then the kids played and had a great time.  The adults got to play the corn hole and also had a fabulous time!!  It was really so well organized with lots of attendees.  It was a wonderful way to spend a Saturday afternoon.  The event was to benefit Thomas and Micah.  Micah is a little boy who had a almost SIDS event back on New Year's Eve which has left him paralyzed.  They have lots of challenges ahead of them and most of all they were raising money to be able to get Micah the help he needs to help him.

As the event began lots of people came and went, then the music was turned down and the MC took the mic.  They were thanking everyone for coming out and explaining the corn hole tournament.  I was busy keeping up with three little boys and especially Thomas who kept wanting to go up the big inflatable slide.  I had just taken him down again with the director walked over to me.  She was sure I had missed the big announcement.  That is when the words that came out of her mouth made me freeze.  She informed me that Micah's family was donating all of the proceeds to Thomas.  I thanked her politely and just stood there reminding myself to breathe.  I was having a hard enough time realizing that this even benefited my baby and that all of these people came out to help and support us.  Now all of the benefit is going to my son.  This family has been generous enough to say they need it more than us.  My mind is still reeling about it while my heart is overflowing with thankfulness and gratefulness.

It reminds me that God is working all around us and that there are indeed angels surrounding us at work all the time.  So many times I have felt such frustration doing for others feeling as though I got nothing in return or at least not what I expected in return.  Yet, time and time again I would continue to do for others because service is in my nature and its what makes me happy.  I am reminded by those around me that it is my giving that warms their hearts and urges them to help us.  I now realize I have a hard time being on the receiving end of things time and time again. I am better at being the giver.

I will share with you all the total amount from Saturday night when I get the final numbers from them.  Thank you again for all your support in prayers, positive thoughts, hugs, time and donations.  It is all so appreciated and I will make sure that in time Thomas will know the story of his life and how each of you played such an important role.

 

1 Chronicles 16:8
Give thanks to the LORD, call on his name; make known among the nations what he has done.

Amazing! I'm happy with the insurance company!! What?!!?

I had to follow up today with the geneticists today about the Exome Sequence Testing.  They were going to determine how much the insurance company was going to pay before moving forward with the study.  The study costs $9,000.  You can click here to read the specifics of the test at Baylor University, which is one of only two places in the United States offering this type of test. Exome Sequence Study at Baylor University.

They sent over the paperwork and this was the first thing I looked for and was amazed:

 See all those zeros!! That's right!  We pay nothing to find out more about our son and have this in depth study done to determine the origin of his anomalies and markings of any additional anomalies we have not yet discovered. Other specific indicators that can be found are detailed as follows:

• Identification of mutations in known disease genes for patients with atypical disease, or an extensive differential diagnosis based on his/her clinical presentation
• Diagnosis of a genetic disease that has been associated with multiple genes, but limited testing and/or no comprehensive panels are available
• Discovery of novel mutations and genes associated with Mendelian disorders

Most of our current cases are severely affected individuals who have remained undiagnosed for months to more than twenty years. These families have long struggled with the unknown; they have been truly in the dark and have watched helplessly as the undiagnosed condition worsens.. Without a definitive clinical diagnosis, therapeutic and preventative options are often restricted. To give just one example, options for family planning can be limited. This is one of many burdens that are being lifted with successful diagnosis through clinical exome sequencing. Reactions from the patients upon learning of the exome results have included relief and even tears of joy.

Clinical exome sequencing is a highly complex test. DNA is first isolated from blood, as with most genetic testing. The protein coding regions of the genome (exome) are then captured using a hybridization protocol and amplified. These are then sequenced using next-generation sequencing technology; each base is covered on average more than 100X. The data is analyzed by aligning to the human genome reference sequence and annotating any differences. Each difference, or variant, is then analyzed for frequency in the general population and likelihood to be associated with disease. Using data on the clinical history of each patient and family, including inheritance, each variant is interpreted by our medical team to identify the one(s) most likely to be causative of the patient’s symptoms.

Exome Testing Explained referenced above from the following site: Ambrygen FAQ - Exome Testing

How about that for some science studies for tonight.   The most important thing is this the next step for us and Thomas!  And we don't have to pay anything for a chance, a chance for more answers, a chance to clearly define if Thomas has been diagnosed properly so that he can get the utmost medical care for his conditions.  That is all I have ever wanted from the beginning of all of this!!  Praise God who answers our prayers and lets us know that he will never forsake us. 

Next step is to get his blood drawn and sent to Texas!! Then wait. .. 15 weeks.

Lamentations 3:22-26

22 Because of the LORD's great love we are not consumed,
for his compassions never fail.
23 They are new every morning;
great is your faithfulness.
24 I say to myself, "The LORD is my portion;
therefore I will wait for him."
25 The LORD is good to those whose hope is in him,
to the one who seeks him;
26 it is good to wait quietly
for the salvation of the LORD.

Remembering Eric

We have an extremely small support group for Klippel Feil Syndrome through a website MDJunction.  The core group that has been together for about three years from what I can tell.  The core group has been supporting each other through surgeries, medicines, fighting for disability income, talking about doctors and therapies, anything that can share information and provide support.  I joined the group not long after Thomas' official diagnosis in January and have made some great connections with some extraordinary people.

Today this small community learned that we lost one of our own.  Eric Heistand lost his life due to complications of KFS three weeks ago.  He leaves behind his wonderful wife Jana and two kids, Joshua and Abigail.  See his obituary here:

Kitsap Sun: May 15, 2012

Eric was born January 29, 1976, only eight months before I myself was born.  Here is his bio in his own words:

I am a Christian. :) I believe that God is Sovereign and that He is with me throughout all these medical issues.

I believe in the power of prayer. If you would like me to pray for you, please let me know. Happily married to my wife Jana for 10 years. Daddy to Joshua and Abigail.

Diagnosed with KFS in 2010 at age 34. Chronic headache and motor skills degeneration prompted surgery due to Basilar Impression. On Dec 2, 2010 I went in for Lamenectomy and Cervical Spinal Fusion Occiput through c6 to decompress my Brain Stem. Dealing with increased pain and pretty wild muscle spasms in my left leg. Now I am dealing with a spinal cord injury which is causing havoc on my body. Waiting to see what comes next in all of this.

Eric shared is story as well as many thoughts and frustrations with our support group.  He even shared these amazing images of what he was dealing with and their solution.

Eric's Pre Op MRI, you can see the pinch at the top of
his spinal cord.

Eric's x-ray, post op.

This surgery was performed on Eric about 16 months ago in an effort to correct the pinch and relieve his chronic pain.  The surgery took longer than expected and his recovery was quite trying.  He had about two good months and progressively declined after that.

His sister posted in our support group reaching out to other people with KFS to share his story and his life to learn all that she can and join in our efforts to increase awareness and create an advocacy for Klippel Feil Syndrome.  You can read more at Eric's online diary with our support group, http://www.mdjunction.com/diary/my-new-life-5.  His father has given us permission to share his story.  In fact, I want to share with you his father's beautiful words that he shared with me tonight:
"oh Allison, thank you so much for your words. You have no idea how much they mean to me. Please, by all means... share anything your heart desires concerning Eric. As I just got done telling Sharon, Jesus's light shined through Eric, especially during the last three years when he suffered most. Don't hesitiate the share, let what Christ did in Eric's life shine BRIGHT for Christ's glory!"

I don't know Eric and I never had the privileged of meeting him or his family.  But I can tell from his words and the legacy he has left behind that he was one amazing human being.  He relied heavily on his wonderful wife and loved his kids with all his heart.  He also had an amazing church family who was always there for them and did what they could with prayers, food and financial support.  Proof can be found in this wonderful video that his father posted:                Grieving son hits Grand Slam after father dies

What a beautiful testament of a man who should his family love and God showing his presence on a family who needs to feel uplifted during this time.

His sister used the log in name on our support group as Psalms 75.  I thought it was a beautiful passage!  
We praise you, God, we praise you, for your Name is near; people tell of your wonderful deeds. 


To Eric and his family, our prayers and thoughts are with you and will always be with you as you begin the new chapter of learning to live with God's promise and a life without Eric.  Those who have been touched by Klippel Feil will always remember Eric and pray that this will have a positive impact in our efforts to create awareness and support for this rare disease.  I can't help but think that there are so many opportunities for the doctors and specialists to learn more and to be able to prevent the same ending to so many others.

"Then he (the penitent thief on the cross along side Jesus) said, 'Jesus, remember me when you come into your kingdom.' He replied, 'Truly I tell you, today you will be with me in Paradise.' (Luke 23:42-43)

God used Eric to tell a story, Eric allowed the light of Jesus to shine through him everyday despite the hurdles that his own body gave him.  We can take comfort in knowing that Eric is now pain free and with our one and only Heavenly Father.  Eric brings hope to Robert and I as the parents of sweet Thomas.  We have hope that Thomas will grow up to be a wonderful young man with a family of his own.  We will raise him in the same spirits as our other sons in that God loves you more than I, God has a marvelous plan for you and as long as you have God in your heart you will shine in this world.  Together we will make a difference and we will make sure that Eric's story is heard as well as the many others with Klippel Feil Syndrome.  

"For I consider that the sufferings of this present time are not worthy to be compared with the glory that is to be revealed to us." (Romans 8:18)